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MEDNIK syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).
Uniprot Description A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea.
Disease Ontology Description A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.
Mondo Term and Equivalent IDs
MONDO:0012251:  MEDNIK syndrome
MESH:C563739: 
Orphanet:171851: 
SCTID:722035007: 
UMLS:C1836330: 
UMLS:CN229776: