Homocystinuria due to cystathionine beta-synthase deficiency

Preferred Label : Homocystinuria due to cystathionine beta-synthase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Homocystinuria with or without response to pyridoxine; Cystathionine beta-synthase deficiency; Cbs deficiency;

Included titles and symbols : Hyperhomocysteinemia, thrombotic, cbs-related;

Description : Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS; 154700), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010). Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cystathionine beta-synthase gene (CBS, 613381.0001);

Laboratory abnormalities : Homocystinuria; Methioninuria; Cystathionine beta-synthase deficiency;

Prefixed ID : #236200;

Details

Origin ID

236200;

UMLS CUI

C0751202;

Currated CISMeF NLP mapping
- Cystathionine beta-synthase deficiency [MedDRA Preferred Term]
- Cystathionine beta-synthase deficiency (disorder) [SNOMED CT concept]
- cystathionine beta synthase deficiency [Disease (Nov.)]
- cystathionine beta-Synthase deficiency disease [MeSH concept]
- cystathionine beta-synthase deficiency [SNOMED Notion]
DO Cross reference
- homocystinuria [DO Concept]
Genes related to phenotype
- Cystathionine beta-synthase [OMIM gene]
HPO term(s)
- Arachnodactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Biconcave vertebral bodies [HPO term]
- Brittle hair [HPO term]
- Cerebrovascular accident [HPO term]
- Childhood onset [HPO term]
- Codfish vertebrae [HPO term]
- Cutis marmorata [HPO term]
- Dental crowding [HPO term]
- Depression [HPO term]
- Disproportionate tall stature [HPO term]
- Ectopia lentis [HPO term]
- Failure to thrive [HPO term]
- Generalized osteoporosis [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- Hepatic steatosis [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Homocystinuria [HPO term]
- Hyperhomocystinemia [HPO term]
- Hypermethioninemia [HPO term]
- Hypopigmentation of the skin [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Kyphoscoliosis [HPO term]
- Lens subluxation [HPO term]
- Limitation of joint mobility [HPO term]
- Methioninuria [HPO term]
- Mitral valve prolapse [HPO term]
- Myocardial infarction [HPO term]
- Myopia [HPO term]
- Neonatal onset [HPO term]
- Normal to tall stature [HPO term]
- Osteoporosis [HPO term]
- Pancreatitis [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Personality disorder [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Stroke [HPO term]
- Tall stature [HPO term]
- Thromboembolism [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Classic homocystinuria [ORDO Disease]
See also inter- (CISMeF)
- Classical homocystinuria [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic homocystinuria [ORDO Disease]
- Classical homocystinuria [ICD-11 More detail]
- Cystathionine beta-synthase deficiency [MedDRA Preferred Term]
- Cystathionine beta-synthase deficiency (disorder) [SNOMED CT concept]
- cystathionine beta-Synthase deficiency disease [MeSH concept]
- cystathionine beta-synthase deficiency [SNOMED Notion]
Validated automatic mappings to NTBT
- Classic homocystinuria [ORDO Disease]
- Congenital glaucoma associated with homocystinuria [ICD-11 More detail]
- homocystinuria [MeSH Descriptor]
- homocystinuria [Disease (Nov.)]
- homocystinuria [DO Concept]

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