ZFIN Human Disease: Arts syndrome

OBO ID: DOID:0050647

Term Name:	Arts syndrome		Search Ontology:
Synonyms:	ARTS fatal X-linked ataxia with deafness and loss of vision Lethal ataxia with deafness and optic atrophy MRXS18 MRXSARTS syndromic X-linked mental retardation 18 syndromic X-linked mental retardation Arts type
Definition:	An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. (5)
References:	GARD:8756 MESH:C535388 OMIM:301835 ORDO:1187 SNOMEDCT_US_2023_03_01:702441001 UMLS_CUI:C0796028
Ontology:	Human Disease ( DOID:0050647 )

Relationships

is a type of:	syndromic X-linked intellectual disability syndromic X-linked intellectual disability Show first 5 Terms

OTHER Arts syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PRPS1	prps1b prps1a	Arts syndrome	301835

ZEBRAFISH MODELS

Fish	Conditions	Citations
prps1b^hg19/hg19; prps1a^{la015591Tg/la015591Tg}	standard conditions	Pei et al., 2016

PHENOTYPE No data available

CITATIONS (1)