IKSHD
MCID: ICH079
MIFTS: 10

Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features (IKSHD)

Categories: Eye diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and...

MalaCards integrated aliases for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features:

Name: Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features 57 6
Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facies 57
Ikshd 57

Classifications:



External Ids:

OMIM 57 618527

Summaries for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and...

OMIM : 57 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity (Mueller et al., 2019). In addition, patients exhibit mild facial dysmorphism (Kutkowska-Kazmierczak et al., 2018). (618527)

MalaCards based summary : Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features, is also known as ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies. An important gene associated with Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features is ELOVL1 (ELOVL Fatty Acid Elongase 1).

Related Diseases for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and...

Symptoms & Phenotypes for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and...

Clinical features from OMIM:

618527

Drugs & Therapeutics for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and...

Search Clinical Trials , NIH Clinical Center for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features

Genetic Tests for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and...

Anatomical Context for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and...

Publications for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and...

Articles related to Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features:

# Title Authors PMID Year
1
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features. 38 8
29496980 2018
2
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. 8
30487246 2019

Variations for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and...

ClinVar genetic disease variations for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ELOVL1 NM_022821.4(ELOVL1): c.494C> T (p.Ser165Phe) single nucleotide variant Pathogenic 1:43830119-43830119 1:43364448-43364448

Expression for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and...

Search GEO for disease gene expression data for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features.

Pathways for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and...

GO Terms for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and...

Sources for Ichthyotic Keratoderma, Spasticity, Hypomyelination, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
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19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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