loading...| Preferred Name |
Cystathioninuria |
| ID |
http://www.orpha.net/ORDO/Orphanet_212 |
| alternative_term |
Cystathionine gamma-lyase deficiency syndrome Gamma-cystathionase deficiency Cystathionase deficiency |
| definition |
A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=212 |
| has_age_of_onset |
All ages |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
ICD-10:E72.1 UMLS:C0220993 MeSH:C535408 OMIM:219500 ICD-11:5C50.B |
| label |
Cystathioninuria |
| notation |
ORPHA:212 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_212 |
| prefLabel |
Cystathioninuria |
| present_in |
Europe AND has_point_prevalence_range : 1-9 / 100 000 Canada AND has_birth_prevalence_average_value : 7.1 AND has_birth_prevalence_range : 1-9 / 100 000 Canada AND has_point_prevalence_average_value : 7.1 AND has_point_prevalence_range : 1-9 / 100 000 |
| treeView | |
| subClassOf |