Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024

Id	http://www.orpha.net/ORDO/Orphanet_212 http://www.orpha.net/ORDO/Orphanet_212
Preferred Name	Cystathioninuria
Definitions	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.
Synonyms	Gamma-cystathionase deficiency Cystathionase deficiency Cystathionine gamma-lyase deficiency syndrome
Type	http://www.w3.org/2002/07/owl#Class

definition_citation	Orphanet
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.
label	Cystathioninuria
prefLabel	Cystathioninuria
hasDbXref	ICD-11:5C50.B OMIM:219500 ICD-10:E72.1 MeSH:C535408 UMLS:C0220993
notation	ORPHA:212
alternative_term	Gamma-cystathionase deficiency Cystathionase deficiency Cystathionine gamma-lyase deficiency syndrome
present_in	Europe AND has_point_prevalence_range : 1-9 / 100 000 Canada AND has_point_prevalence_average_value : 7.1 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
part_of	http://www.orpha.net/ORDO/Orphanet_79173
prefixIRI	ORDO:Orphanet_212
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=212
subClassOf	http://www.orpha.net/ORDO/Orphanet_377788 http://www.orpha.net/ORDO/Orphanet_557493
type	http://www.w3.org/2002/07/owl#Class
has_inheritance	Autosomal recessive
has_age_of_onset	All ages
treeView	http://www.orpha.net/ORDO/Orphanet_79173

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