ZFIN Human Disease: Charcot-Marie-Tooth disease X-linked recessive 5

OBO ID: DOID:0110210

Term Name:	Charcot-Marie-Tooth disease X-linked recessive 5		Search Ontology:
Synonyms:	Charcot-Marie-Tooth neuropathy X-linked recessive 5 CMT5X CMTX5 optic atrophy, polyneuropathy, and deafness Rosenberg-Chutorian syndrome X-linked Charcot-Marie-Tooth disease type 5
Definition:	A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. https://www.ncbi.nlm.nih.gov/pubmed/15955956
References:	ICD10CM:G60.0 OMIM:311070 ORDO:99014
Ontology:	Human Disease ( DOID:0110210 )

Relationships

is a type of:	Charcot-Marie-Tooth disease type X X-linked recessive disease Charcot-Marie-Tooth disease type X X-linked recessive disease Show first 5 Terms

OTHER Charcot-Marie-Tooth disease X-linked recessive 5 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PRPS1	prps1b prps1a	Charcot-Marie-Tooth disease, X-linked recessive, 5	311070

ZEBRAFISH MODELS

Fish	Conditions	Citations
prps1a^{la015591Tg/la015591Tg}	standard conditions	Pei et al., 2016
prps1a^{la015591Tg/la015591Tg}	standard conditions	Pei et al., 2016

PHENOTYPE No data available

CITATIONS (1)