| ADR Ontology |
| ADR Term |
Homocystinuria |
| ADR ID |
BADD_A02090 |
| ADR Hierarchy |
|
| Description |
Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979) [MeSH] |
| MedDRA Code |
10020365 |
| MeSH ID |
D006712
|
|
ADR Severity Grade (FAERS)
|
|
|
ADR Severity Grade (CTCAE)
|
Not Available
|
| Synonym |
| Homocystinuria | Cystathionine beta-Synthase Deficiency Disease | Cystathionine beta Synthase Deficiency Disease | Cystathionine Beta Synthase Deficiency | Deficiency Disease, Cystathionine beta-Synthase | Deficiency Disease, Cystathionine beta Synthase | CBS Deficiency | CBS Deficiencies | Deficiencies, CBS | Deficiency, CBS |
|
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| ADR Related Proteins |
| Protein Name |
UniProt AC |
TTD Target ID |
| Not Available | Not Available | Not Available |
|
| Drugs Leading to the ADR |
| Drug ID | Drug Name | ADR Frequency (FAERS) | ADR Severity Grade (FAERS) | | BADD_D00259 | Betaine | - | - |
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