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Human Phenotype Ontology
| Preferred Name | Homocystinuria | |
| Synonyms |
High urine homocystine levels |
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| Definitions |
An increased concentration of homocystine in the urine. Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency. |
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| ID |
http://purl.obolibrary.org/obo/HP_0002156 |
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| comment |
Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency.
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| database_cross_reference |
UMLS:C0019880 SNOMEDCT_US:11282001
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| definition |
An increased concentration of homocystine in the urine.
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| has_exact_synonym |
High urine homocystine levels
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| has_obo_namespace |
human_phenotype
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| id |
HP:0002156
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| label |
Homocystinuria
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| notation |
HP:0002156
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| prefLabel |
Homocystinuria
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