DISEASE: Ichthyosis, spastic quadriplegia, and impaired intellectual development
Entry
H02935 Disease
Name
Ichthyosis, spastic quadriplegia, and impaired intellectual development
Description
Ichthyosis, spastic quadriplegia, and impaired intellectual development (ISQMR) is an autosomal recessive neuro-ichthyotic disease characterized by congenital ichthyosis, seizures, mental retardation, and spasticity. It has been reported that mutations in ELOVL4 cause this disease. ELOVL4 is essential for the synthesis of epidermal very long chain fatty acids (VLCFAs), and is required for generating omega-O-acylceramides, a key ceramide molecular species that is essential for permeability barrier function. In addition, VLCFAs are essential components of the sphingolipids that make up 30% of the myelin sheath of the brain.
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
H02935 Ichthyosis, spastic quadriplegia, and impaired intellectual development
Pathway-based classification of diseases [BR:br08402]
Cellular processes
nt06545 Cornified envelope formation
H02935 Ichthyosis, spastic quadriplegia, and impaired intellectual development
Vasireddy V, Uchida Y, Salem N Jr, Kim SY, Mandal MN, Reddy GB, Bodepudi R, Alderson NL, Brown JC, Hama H, Dlugosz A, Elias PM, Holleran WM, Ayyagari R
Title
Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death.
