MCID: ICH054
MIFTS: 34

Ichthyosis, X-Linked malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases categories

Summaries for Ichthyosis, X-Linked

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OMIM:47 Ichthyosis is a genetically heterogeneous disorder of the skin. See, e.g., autosomal dominant ichthyosis vulgaris... (308100) more...

MalaCards based summary: Ichthyosis, X-Linked, also known as x-linked ichthyosis, is related to mental retardation and ichthyosis vulgaris, and has symptoms including dry skin, hyperkeratosis and hypohidrosis. An important gene associated with Ichthyosis, X-Linked is STS (steroid sulfatase (microsomal), isozyme S). Affiliated tissues include skin, testes and eye.

Wikipedia:65 X-linked ichthyosis (XLI) (also known as \"Steroid sulfatase deficiency,\" and \"X-linked recessive... more...

Aliases & Classifications for Ichthyosis, X-Linked

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Sources:
47OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 12DISEASES, 45Novoseek, 49Orphanet, 57SNOMED-CT, 40NCIt, 62UMLS, 35MeSH, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
See all sources

Ichthyosis, X-Linked, Aliases & Descriptions:

Name: Ichthyosis, X-Linked 47 11
X-Linked Ichthyosis 32 10 43 12 49
Recessive X-Linked Ichthyosis 43 49
Steroid Sulfatase Deficiency 43 49
X Linked Ichthyosis 43 22
Rxli 43 49
Xli 43 49
X-Linked Ichthyosis with Steryl-Sulphatase Deficiency 10
 
X-Linked Placental Steryl-Sulphatase Deficiency 10
Placental Steroid Sulfatase Deficiency 43
Steroid Sulfatase Deficiency Disease 43
X-Linked Recessive Ichthyosis 10
Ichthyosis X-Linked 45
Ssdd 43
Ssd 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

49
x-linked ichthyosis:
Inheritance: X-linked recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy


External Ids:

OMIM47 308100
Disease Ontology10 DOID:1700
NCIt40 C84779
MeSH35 D016114
Orphanet49 461
MESH via Orphanet36 D016114
ICD10 via Orphanet28 Q80.1
UMLS via Orphanet63 C0079588, C2717836
ICD1027 Q80.1

Related Diseases for Ichthyosis, X-Linked

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Graphical network of the top 20 diseases related to Ichthyosis, X-Linked:



Diseases related to ichthyosis, x-linked

Symptoms for Ichthyosis, X-Linked

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Symptoms by clinical synopsis from OMIM:

308100

Clinical features from OMIM:

308100

Symptoms:

 49 (show all 11)
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • dry/squaly skin/exfoliation
  • ichthyosis/ichthyosiform dermatitis
  • x-linked recessive inheritance
  • insterstitial/subtelomeric microdeletion/deletion
  • corneal clouding/opacity/vascularisation
  • hyperactivity/attention deficit
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • autism/autistic disoders

HPO human phenotypes related to Ichthyosis, X-Linked:

(show all 16)
id Description Frequency HPO Source Accession
1 dry skin hallmark (90%) HP:0000958
2 hyperkeratosis hallmark (90%) HP:0000962
3 hypohidrosis hallmark (90%) HP:0000966
4 ichthyosis hallmark (90%) HP:0008064
5 attention deficit hyperactivity disorder typical (50%) HP:0007018
6 opacification of the corneal stroma typical (50%) HP:0007759
7 cryptorchidism occasional (7.5%) HP:0000028
8 autism occasional (7.5%) HP:0000717
9 neurological speech impairment occasional (7.5%) HP:0002167
10 cryptorchidism HP:0000028
11 x-linked recessive inheritance HP:0001419
12 abnormality of metabolism/homeostasis HP:0001939
13 neoplasm HP:0002664
14 congenital ichthyosiform erythroderma HP:0007431
15 opacification of the corneal stroma HP:0007759
16 ichthyosis HP:0008064

Drugs & Therapeutics for Ichthyosis, X-Linked

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Drug clinical trials:

Search ClinicalTrials for Ichthyosis, X-Linked

Search NIH Clinical Center for Ichthyosis, X-Linked

Genetic Tests for Ichthyosis, X-Linked

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Genetic tests related to Ichthyosis, X-Linked:

id Genetic test Affiliating Genes
1 Ichthyosis, X-Linked22 STS

Anatomical Context for Ichthyosis, X-Linked

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MalaCards organs/tissues related to Ichthyosis, X-Linked:

33
Skin, Testes, Eye

Animal Models for Ichthyosis, X-Linked or affiliated genes

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Publications for Ichthyosis, X-Linked

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Variations for Ichthyosis, X-Linked

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UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, X-Linked:

64
id Symbol AA change Variation ID SNP ID
1STSp.Ser341LeuVAR_007240
2STSp.Trp372ArgVAR_007241
3STSp.Cys446TyrVAR_007242
4STSp.Trp372SerVAR_014020
5STSp.Gly380ArgVAR_014021
6STSp.His444ArgVAR_014022
7STSp.Gln560ProVAR_014023

Clinvar genetic disease variations for Ichthyosis, X-Linked:

7
id Gene Variation Type Significance SNP ID Assembly Location
1STSNM_000351.4(STS): c.1114T> A (p.Trp372Arg)single nucleotide variantPathogenicrs137853165GRCh37Chr X, 7243397: 7243397
2STSNM_000351.4(STS): c.1337G> A (p.Cys446Tyr)single nucleotide variantPathogenicrs137853166GRCh37Chr X, 7252107: 7252107
3STSNM_000351.4(STS): c.1022C> T (p.Ser341Leu)single nucleotide variantPathogenicrs137853167GRCh37Chr X, 7223150: 7223150
4STSNM_000351.4(STS): c.1115G> C (p.Trp372Ser)single nucleotide variantPathogenicrs137853168GRCh37Chr X, 7243398: 7243398
5STSNM_000351.4(STS): c.1331A> G (p.His444Arg)single nucleotide variantPathogenicrs137853169GRCh37Chr X, 7252101: 7252101
6STSSTS, IVS8DS, G-T, +1single nucleotide variantPathogenic

Expression for genes affiliated with Ichthyosis, X-Linked

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Search GEO for disease gene expression data for Ichthyosis, X-Linked.

Pathways for genes affiliated with Ichthyosis, X-Linked

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Compounds for genes affiliated with Ichthyosis, X-Linked

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GO Terms for genes affiliated with Ichthyosis, X-Linked

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Products for genes affiliated with Ichthyosis, X-Linked

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ichthyosis, X-Linked

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet