Details of Disease

General Information of Disease (ID: DISOYL0V)

Disease Name Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
Synonyms IKSHD; ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES; ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies
Disease Hierarchy
DISYKSRF: Genetic disease
DISOYL0V: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
Disease Identifiers
MONDO ID
MONDO_0032798
UMLS CUI
C5193147
OMIM ID
618527
MedGen ID
1682428

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ELOVL1 OTIDTQ8R Strong Autosomal dominant [1]
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References

1 De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. J Med Genet. 2019 Mar;56(3):164-175. doi: 10.1136/jmedgenet-2018-105711. Epub 2018 Nov 28.