IKSHD
MCID: ICH079
MIFTS: 19

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 56 6
Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facies 56 73
Ikshd 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 2 unrelated patients (last curated august 2019)


HPO:

31
ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features:
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM : 56 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). Affiliated tissues include skin and eye, and related phenotypes are dysarthria and photophobia

UniProtKB/Swiss-Prot : 73 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies: An autosomal dominant disease characterized by ichthyosis due to epidermal hyperproliferation and increased keratinisation, hypomyelination of the central white matter, spastic paraplegia, central nystagmus, optic atrophy, reduction of peripheral vision and visual acuity, and dysmorphic facial features.

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

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

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dysarthria 31 HP:0001260
2 photophobia 31 HP:0000613
3 acanthosis nigricans 31 HP:0000956
4 dry skin 31 HP:0000958
5 reduced visual acuity 31 HP:0007663
6 optic disc pallor 31 HP:0000543
7 neurogenic bladder 31 HP:0000011

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
photophobia
reduced visual acuity
pale optic discs
nystagmus, horizontal high-frequency low-amplitude
progressive difficulty with night vision
more
Neurologic Central Nervous System:
neurogenic bladder
dysarthric speech
spastic paraplegia of lower extremities
exaggerated deep tendon reflexes
upgoing plantar reflexes
more
Head And Neck Ears:
sensorineural hearing loss, high frequency

Genitourinary Bladder:
neurogenic bladder (patient a)

Skin Nails Hair Nails:
thickened fingernails
horizontally split fingernails

Skin Nails Hair Skin:
dry skin
orange skin discoloration
unusual body odor
ichthyotic scales within first year of life
hyperkeratotic skin, especially over extensor surfaces
more
Skin Nails Hair Skin Histology:
focal parakeratosis
thickening of stratum corneum
thickening of stratum spinosum
reticular hyperkeratosis
focal acanthosis
more
Abdomen Gastrointestinal:
fecal incontinence, intermittent (patient a)

Skin Nails Hair Skin Electron Microscopy:
numerous lysosomes filled with lipopigment

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...

MalaCards organs/tissues related to Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features:

40
Skin, Eye

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. 61 56 6
29496980 2018
2
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. 56 6
30487246 2019

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

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ELOVL1 NM_022821.4(ELOVL1):c.494C>T (p.Ser165Phe)SNV Pathogenic 652597 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
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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