ZFIN Human Disease: cystinosis

OBO ID: DOID:1064

Term Name:	cystinosis		Search Ontology:
Synonyms:	cystine storage disease
Definition:	A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. (3)
References:	GARD:6236 MESH:D003554 NCI:C129932 OMIM:219750 OMIM:219800 OMIM:219900 ORDO:213 SNOMEDCT_US_2023_03_01:62332007 UMLS_CUI:C2931187
Ontology:	Human Disease ( DOID:1064 )

Relationships

is a type of:	autosomal recessive disease lysosomal storage disease autosomal recessive disease lysosomal storage disease Show first 5 Terms

OTHER cystinosis PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CTNS	ctns	Cystinosis, late-onset juvenile or adolescent nephropathic	219900
		Cystinosis, nephropathic	219800
		Cystinosis, ocular nonnephropathic	219750
		Cystinosis, atypical nephropathic	219800

ZEBRAFISH MODELS

Fish	Conditions	Citations
ctns^{sa14661/sa14661}	standard conditions	(2)
ctns^{sa14661/sa14661}	standard conditions	(2)
ctns^{sa14661/sa14661} (AB)	standard conditions	Berlingerio et al., 2021
ctns^zh601/zh601	standard conditions	Festa et al., 2018

PHENOTYPE No data available

CITATIONS (6)