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Orphanet Rare Disease Ontology
| Preferred Name | Homocystinuria due to cystathionine beta-synthase deficiency | |
| Synonyms |
CBS-deficient HCU Cystathionine beta-synthase-deficient homocystinuria Homocystinuria due to CBS deficiency Cystathionine beta-synthase deficiency |
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| Definitions |
A rare metabolic disease of methionine catabolism characterized by accumulation of methionine and homocysteine with clinical involvement of the eye, skeletal system, vascular system and central nervous system (CNS). |
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| ID |
http://www.orpha.net/ORDO/Orphanet_394 |
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| alternative_term |
CBS-deficient HCU Cystathionine beta-synthase-deficient homocystinuria Homocystinuria due to CBS deficiency Cystathionine beta-synthase deficiency
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|
| definition |
A rare metabolic disease of methionine catabolism characterized by accumulation of methionine and homocysteine with clinical involvement of the eye, skeletal system, vascular system and central nervous system (CNS).
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=394 |
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| has_age_of_onset |
Adolescent Adult Childhood
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|
| has_inheritance |
Autosomal recessive
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|
| hasDbXref |
MedDRA:10071093 ICD-11:5C50.B OMIM:236200 ICD-10:E72.1 UMLS:C0751202
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| label |
Homocystinuria due to cystathionine beta-synthase deficiency
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|
| notation |
ORPHA:394
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| part_of |
http://www.orpha.net/ORDO/Orphanet_519292 http://www.orpha.net/ORDO/Orphanet_98638 http://www.orpha.net/ORDO/Orphanet_522554 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_225689 http://www.orpha.net/ORDO/Orphanet_98644 http://www.orpha.net/ORDO/Orphanet_79173 |
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| prefixIRI |
ORDO:Orphanet_394
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|
| prefLabel |
Homocystinuria due to cystathionine beta-synthase deficiency
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| present_in |
Germany AND has_birth_prevalence_average_value : 0.77 AND has_birth_prevalence_range : 1-9 / 1 000 000 Qatar AND has_birth_prevalence_average_value : 55.5 AND has_birth_prevalence_range : 1-5 / 10 000 Japan AND has_birth_prevalence_average_value : 0.11 AND has_birth_prevalence_range : 1-9 / 1 000 000 Ireland AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.65 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 15.6 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000
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| treeView |
http://www.orpha.net/ORDO/Orphanet_519292 http://www.orpha.net/ORDO/Orphanet_98638 http://www.orpha.net/ORDO/Orphanet_522554 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_225689 http://www.orpha.net/ORDO/Orphanet_98644 http://www.orpha.net/ORDO/Orphanet_79173 |
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| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
| Mapping To | Ontology | Source |
|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_394 | CCONT | SAME_URI |
| http://www.orpha.net/ORDO/Orphanet_394 | EFO | SAME_URI |
| http://purl.bioontology.org/ontology/OMIM/236200 | OMIM | LOOM |
| http://www.gamuts.net/entity#homocystinuria | GAMUTS | REST |