| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A clinically heterogeneous progressive condition with characteristics of a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. NARP syndrome is a maternally inherited syndrome and women can transmit to all their offspring. Clinical severity usually depends on the mutation load. |
Is a |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
| A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine. |
Is a |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
Is a |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
| A rare genetic neurometabolic disease characterised by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anaemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum. |
Is a |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
| Glutaryl-CoA dehydrogenase deficiency |
Is a |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
| A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. |
Is a |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
| A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate. |
Is a |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
| A rare syndrome with combined immunodeficiency characterised by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leucoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects. |
Is a |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
| Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. |
Is a |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
| A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion). |
Is a |
True |
Inherited metabolic disorder of nervous system |
Inferred relationship |
Some |
|
FHIR