ZFIN Human Disease: EAST syndrome

OBO ID: DOID:0060484

Term Name:	EAST syndrome		Search Ontology:
Synonyms:	epilepsy, ataxia, sensorineural deafness and tubulopathy seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance SeSAME syndrome
Definition:	A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. (3)
References:	MESH:C557674 OMIM:612780 ORDO:199343 SNOMEDCT_US_2023_03_01:721207002 UMLS_CUI:C2748572
Ontology:	Human Disease ( DOID:0060484 )

Relationships

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

OTHER EAST syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KCNJ10	kcnj10b kcnj10a	SESAME syndrome	612780

ZEBRAFISH MODELS

Fish	Conditions	Citations
TL + MO1-kcnj10a	standard conditions	Mahmood et al., 2013
mitfa^w2/w2; icm05Tg + MO2-kcnj10a	standard conditions	Cozzolino et al., 2020

PHENOTYPE No data available

CITATIONS (2)