| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
4 |
| A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec). |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Primary malignant nerve sheath neoplasm of peripheral nervous system structure (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Metastatic malignant neoplasm of peripheral nervous system (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Some |
4 |
| Ataxia co-occurrent and due to phytanic acid storage disease (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
4 |
| Complex regional pain syndrome, type II (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Complex regional pain syndrome type I (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. Type 4 is less common and often limited to certain ethnic groups. Patients present with the typical CMT phenotype along with typical features of progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterised by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (including kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus). |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (including hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles). |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| X-linked hereditary motor and sensory neuropathy |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability have been reported in some individuals. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions). |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterised by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large, myelinated fibres on sural nerve biopsy is equally characteristic of the disease. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards. |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare axonal hereditary motor and sensory neuropathy with characteristics of slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare axonal hereditary motor and sensory neuropathy with characteristics of progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Charcot-Marie-Tooth disease type 2B5 |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of severe, early childhood-onset Charcot-Marie-Tooth neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. Caused by homozygous mutation in the GDAP1 gene on chromosome 8q21. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterised by a CMT neuropathy associated with developmental delay, self-abusive behaviour, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. Caused by homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. There is evidence this disease is caused by a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| A rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare genetic neuromuscular disease characterised by normokalaemic episodes of painful muscle cramping followed by progressive permanent flaccid weakness. Triggered by stress, cold and exercise and associated with myopathic myopathy and painful acute oedema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| A rare genetic neuromuscular disease with characteristics of acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset chronic slowly progressive distal axonal neuropathy. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease with characteristics of debilitating neuropathic pain associated with mild distal symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting or throbbing pain and intermittent paresthesia in toes, heels and ankles. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare genetic subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. Caused by heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Infectious disorder of the peripheral nervous system |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare genetic peripheral neuropathy with characteristics of early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Caused by homozygous mutation in the TECPR2 gene on chromosome 14q32. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
4 |
| A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fiber uniformity, absent or abnormally small type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare subtype of axonal hereditary motor and sensory neuropathy with characteristics of distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/areflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy. There is evidence this disease is caused by heterozygous mutation in the DCAF8 gene on chromosome 1q23. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare genetic peripheral neuropathy with characteristics of congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhoea and/or constipation. Cognitive development is normal. Caused by heterozygous mutation in the SCN11A gene on chromosome 3p22. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare genetic axonal hereditary motor and sensory neuropathy disorder with characteristics of adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. The disease can be caused by homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare genetic demyelinating hereditary motor and sensory neuropathy disorder with characteristics of slowly progressive mild to moderate distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (for example pectus excavatus, dolichocephaly) may also be associated. There is evidence the disease is caused by heterozygous mutation in the gene encoding fibulin-5 (FBLN5) on chromosome 14q32. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Schwartz-Jampel syndrome |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| Roussy-Lévy syndrome |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Hereditary autonomic neuropathy (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Hereditary sensory autonomic neuropathy type IIA |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Hereditary sensory autonomic neuropathy type IIB (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Hereditary sensory autonomic neuropathy type ID |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Hereditary sensory autonomic neuropathy type IE |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Hereditary sensory autonomic neuropathy type IA (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Hereditary sensory autonomic neuropathy type IC (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Huntington's chorea |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
5 |
| Juvenile onset Huntington's disease |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
4 |
| Late onset Huntington's disease |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
4 |
| Akinetic-rigid form of Huntington's disease |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
4 |
| Hypertrophic interstitial neuropathy |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Déjérine-Sottas disease |
Finding site |
False |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Neonatal hypotonia |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Neonatal neuromuscular disorder |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| Autosomal recessive Charcot-Marie-Tooth disease type 2 |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Autosomal recessive distal hereditary motor neuropathy (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Autosomal dominant distal hereditary motor neuropathy (disorder) |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| X-linked distal hereditary motor neuropathy |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (around 10 years after onset). |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive distal hereditary motor neuropathy with characteristics of slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. There is evidence this disease is caused by homozygous mutation in the DNAJB2 gene on chromosome 2q35. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| Spinal muscular atrophy with respiratory distress type 1 |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A complex hereditary spastic paraplegia with characteristics of progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| A rare slowly progressive genetic peripheral neuropathy with characteristics of distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with unilateral or bilateral vocal cord paresis leading to hoarse voice, breathing difficulties and facial weakness. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
| A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordosis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
4 |
| Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
2 |
| X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
1 |
| A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. |
Finding site |
True |
Peripheral nervous system structure |
Inferred relationship |
Some |
3 |
FHIR