DISEASE: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
Entry
H02675 Disease
Name
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
Description
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is a rare neurological disorder caused by mutations in ELOVL1. ELOVL1 catalyzes fatty acid elongation to produce very long-chain fatty acids, most of which are components of sphingolipids such as ceramides and sphingomyelins.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD27 Syndromes with skin or mucosal anomalies as a major feature
H02675 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06545 Cornified envelope formation
H02675 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
Kutkowska-Kazmierczak A, Rydzanicz M, Chlebowski A, Klosowska-Kosicka K, Mika A, Gruchota J, Jurkiewicz E, Kowalewski C, Pollak A, Stradomska TJ, Kmiec T, Jakubowski R, Gasperowicz P, Walczak A, Sladowski D, Jankowska-Steifer E, Korniszewski L, Kosinska J, Obersztyn E, Nowak W, Sledzinski T, Dziembowski A, Ploski R
Title
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.
