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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/236200
http://purl.bioontology.org/ontology/OMIM/236200
|
|---|---|
| Preferred Name | HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY |
| Synonyms |
HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE
CBS DEFICIENCY
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE
CBS DEFICIENCY
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
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|---|---|
| prefLabel | HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
|
| Gene Symbol | CBS
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| Scope Statement | Pyridoxine responsive individuals often have milder manifestations than those not responsive [MISCELLANEOUS]
Fifty-percent of individuals responsive to pyridoxine (vitamin B6) [MISCELLANEOUS]
Frequency between 1 in 58,000 to 1 in 1,000,000 [MISCELLANEOUS]
Thromboembolism is the most common cause of death [MISCELLANEOUS]
Caused by mutation in the cystathionine beta-synthase gene (CBS, 613381.0001) [MOLECULAR BASIS]
Management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders [MISCELLANEOUS]
Treatment with betaine, especially for pyridoxine nonresponders [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 21q22.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 236200
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C0751202
C3150344
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |