HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE

CBS DEFICIENCY

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

http://purl.bioontology.org/ontology/OMIM/236200

HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE

CBS DEFICIENCY

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED

CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

C0751202

C3150344

21q22.3

CBS

http://purl.bioontology.org/ontology/OMIM/MTHU007306

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU000191

http://purl.bioontology.org/ontology/OMIM/MTHU005403

http://purl.bioontology.org/ontology/OMIM/MTHU037512

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU012420

http://purl.bioontology.org/ontology/OMIM/MTHU007752

http://purl.bioontology.org/ontology/OMIM/MTHU012421

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU001106

http://purl.bioontology.org/ontology/OMIM/MTHU012425

http://purl.bioontology.org/ontology/OMIM/MTHU037509

http://purl.bioontology.org/ontology/OMIM/MTHU001151

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU003881

http://purl.bioontology.org/ontology/OMIM/MTHU037510

http://purl.bioontology.org/ontology/OMIM/MTHU004673

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU008847

http://purl.bioontology.org/ontology/OMIM/MTHU012429

http://purl.bioontology.org/ontology/OMIM/MTHU012424

http://purl.bioontology.org/ontology/OMIM/MTHU012423

http://purl.bioontology.org/ontology/OMIM/MTHU012430

http://purl.bioontology.org/ontology/OMIM/MTHU001468

http://purl.bioontology.org/ontology/OMIM/MTHU008101

http://purl.bioontology.org/ontology/OMIM/MTHU012428

http://purl.bioontology.org/ontology/OMIM/MTHU025933

http://purl.bioontology.org/ontology/OMIM/MTHU012427

http://purl.bioontology.org/ontology/OMIM/MTHU073532

http://purl.bioontology.org/ontology/OMIM/MTHU012426

http://purl.bioontology.org/ontology/OMIM/MTHU010388

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000940

Phenotype description, molecular basis known.

236200

3

pound

HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

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]

T047