| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Familial renal iminoglycinuria |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Classical phenylketonuria |
Is a |
False |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Gamma-glutamyl transpeptidase deficiency |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Ornithine carbamoyltransferase deficiency |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Isovaleryl-CoA dehydrogenase deficiency |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Biotinidase deficiency |
Is a |
False |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Erythropoietic protoporphyria |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Inherited disorder of bilirubin metabolism |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Porphobilinogen synthase deficiency |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Inborn errors of metabolism screen |
Has focus |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
2 |
| Gout screening (procedure) |
Has focus |
False |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Essential pentosuria |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Inborn error of metabolism diet education (procedure) |
Has focus |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
2 |
| Amino acid metabolism disorder diet education (procedure) |
Has focus |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
3 |
| Carnitine deficiency due to inborn error of metabolism (disorder) |
Due to |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
1 |
| Lysosomal acid lipase deficiency |
Is a |
False |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. |
Is a |
False |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. |
Is a |
False |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities. |
Is a |
False |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome |
Is a |
False |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. |
Is a |
False |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Pyridoxine-dependent epilepsy (disorder) |
Is a |
False |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A rare genetic X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalised, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A rare genetic syndromic sterol biosynthesis disorder affecting males. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11. |
Is a |
False |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A very rare inborn error of metabolism disorder with a highly variable phenotype. Typical characteristics are neonatal to infancy-onset of seizures, psychomotor delay and abnormal muscle tone that may include hypo and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties and pulmonary hypertension. There is evidence the disease is caused by compound heterozygous mutation in the LIPT1 gene on chromosome 2q11. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder with characteristics of a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Dyshormonogenic goitre |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Synthetic defect of bile acids |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A rare disorder of ketone body transport characterised by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycaemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis, and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism, and hepatomegaly. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A rare inborn error of amino acid metabolism with characteristics of elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. The most common form of the condition is known as classical phenylketonuria and has severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninaemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA). The disease is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Transmission is autosomal recessive. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A rare inborn error of metabolism characterised by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odour in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate). |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Chorea due to inborn error of metabolism (disorder) |
Due to |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
2 |
| A rare inborn error of metabolism characterized by severe neonatal encephalopathy with EEG abnormalities, increased serum lactate, little or no psychomotor development, and sometimes death in infancy. Brain imaging may show cortical atrophy, enlarged ventricles, delayed myelination, and white matter abnormalities, among others. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A rare inborn error of metabolism characterized by cabbage-like breath odor with high levels of methanethiol and dimethylsulfide in oral and nasal breath, due to methanethiol oxidase deficiency. Laboratory examination shows elevated levels of dimethylsulfide, dimethylsulfoxide, and dimethylsulfone in blood, cerebrospinal fluid (CSF), and urine. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A rare developmental defect during embryogenesis with characteristics of unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. NSDHL (Xq28) encodes a protein responsible for cholesterol biosynthesis, mutations are typically lethal in males. X-inactivation creates a mosaic of cells lacking the enzyme in females, disrupting embryonic development and leading to a highly variable spectrum of anomalies. Transmission is X-linked dominant. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Deficiency of Xaa-Pro dipeptidase |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A metabolic disorder characterized by prolonged apnea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency. It is caused by mutations in the BCHE located on chromosome 3 (3q26.1-3q26.2) and multiple atypical variants have been identified. The condition is transmitted as an autosomal recessive trait. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| A rare subtype of haemochromatosis characterised by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related haemochromatosis is not enough to fully explain the clinical picture of the patient. |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
| Glucose-galactose malabsorption |
Is a |
True |
Inborn error of metabolism |
Inferred relationship |
Some |
|
FHIR