SSD
MCID: XLN001
MIFTS: 47

X-Linked Ichthyosis (SSD) malady

Eye, Skin categories

Summaries for X-Linked Ichthyosis

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 X-linked ichthyosis (XLI) (also known as \"Steroid sulfatase deficiency,\" and \"X-linked recessive... more...

MalaCards: X-Linked Ichthyosis, also known as ichthyosis, x-linked, is related to mental retardation and ichthyosis vulgaris, and has symptoms including seizures/epilepsy/absences/spasms/status epilepticus, intellectual deficit/mental/psychomotor retardation/learning disability and speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia. An important gene associated with X-Linked Ichthyosis is STS (steroid sulfatase (microsomal), isozyme S), and among its related pathways are Estrone metabolism and Estrogen metabolism. The compounds 4-methylumbelliferyl sulfate and estradiol sulfate have been mentioned in the context of this disorder. Affiliated tissues include skin.

Description from OMIM:47 308100,300001

Aliases & Classifications for X-Linked Ichthyosis

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye, Skin


Characteristics (Orphanet epidemiological data):

49
x-linked ichthyosis:
Inheritance: X-linked recessive; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal
syndromic recessive x-linked ichthyosis:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

x-linked ichthyosis 8 43 10 49
ichthyosis, x-linked 9 20 47 61
placental steroid sulfatase deficiency 43 61
steroid sulfatase deficiency disease 43 61
steroid sulfatase deficiency 43 49
x-linked ichthyosis with steryl-sulphatase deficiency 8
x-linked placental steryl-sulphatase deficiency 8
syndromic recessive x-linked ichthyosis 49
x-linked recessive ichthyosis 8
recessive x-linked ichthyosis 49
syndromic x-linked ichthyosis 49
congenital ichthyosis 61
speech-sound disorder 61
ichthyosis x-linked 45
syndromic rxli 49
rxli 49
ssdd 43
xli 49
ssd 43


External Ids:

Disease Ontology8 DOID:1700
MeSH35 D016114
NCIt40 C84779
MESH via Orphanet36 D016114
ICD10 via Orphanet26 Q80.1
SNOMED-CT via Orphanet58 402771003
UMLS via Orphanet62 C0079588, C2717836
ICD1025 Q80.1

Related Diseases for X-Linked Ichthyosis

Sources:
17GeneCards, 18GeneDecks
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Diseases related to X-Linked Ichthyosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 119)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.9NLGN4X, STS, VCX3A
2ichthyosis vulgaris30.9STS, FLG, TGM1
3kallmann syndrome30.8VCX, VCX3A, VCX2, CGA, STS, KAL1
4cryptorchidism30.4CGA, STS, KAL1
5renal agenesis30.2KAL1
6epidermolysis bullosa simplex30.1KRT86, FLG
7alopecia29.9KRT86
8congenital ichthyosiform erythroderma29.9TGM1, FLG
9harlequin type ichthyosis29.9TGM1, FLG
10epidermolytic hyperkeratosis29.9TGM1, KRT86, FLG
11autosomal recessive congenital ichthyosis10.8
12chondrodysplasia punctata with steroid sulfatase deficiency10.4
13mental retardation, x-linked10.4
14hypertrophic pyloric stenosis10.4
15ichthyosis, congenital, autosomal recessive 110.3
16speech disorder10.3
17cataract and congenital ichthyosis10.3
18chondrodysplasia10.3
19ichthyosis, autosomal recessive 4b10.3
20ichthyosis, congenital, autosomal recessive 510.3
21steroid-resistant nephrotic syndrome10.2
22periventricular nodular heterotopia10.2
23polymicrogyria10.2
24periventricular heterotopia10.2
25unilateral polymicrogyria10.2
26sjogren-larsson syndrome10.2
27congenital ichthyosis, microcephalus, quadriplegia10.2
28ichthyosis, congenital, autosomal recessive 4a10.2
29ichthyosis, congenital, autosomal recessive 610.2
30ichthyosis, congenital, autosomal recessive 1010.2
31ichthyosis, congenital, autosomal recessive 810.2
32ichthyosis, congenital, autosomal recessive 710.2
33ichthyosis, congenital, autosomal recessive 910.2
34ichthyosis, congenital, autosomal recessive 210.2
35ichthyosis, congenital, autosomal recessive 310.2
36congenital ichthyosis - microcephalus - tetraplegia10.2
37lissencephaly10.1
38spinal muscular atrophy, x-linked infantile10.1
39lissencephaly x-linked10.1
40attention deficit hyperactivity disorder10.1
41hypohidrotic ectodermal dysplasia10.1
42poland syndrome10.1
43down syndrome10.1
44n syndrome10.1
45recurrent corneal erosion10.1
46acute leukemia10.1
47b cell deficiency10.1
48t cell deficiency10.1
49tinea corporis10.1
50short syndrome10.1

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



Diseases related to x-linked ichthyosis

Clinical Features for X-Linked Ichthyosis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

308100,300001

Clinical synopsis from OMIM:

308100

Symptoms:

49 (show all 23)
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • corneal clouding/opacity/vascularisation
  • ichthyosis/ichthyosiform dermatitis
  • short stature/dwarfism/nanism
  • late puberty/hypogonadism/hypogenitalism
  • renal failure
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • dry/squaly skin/exfoliation
  • stomach/gastric anomaly
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • x-linked recessive inheritance
  • insterstitial/subtelomeric microdeletion/deletion
  • hyperactivity/attention deficit
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • autism/autistic disoders
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • agenesis/hypoplasia/aplasia of kidneys
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • acute leukemia
  • testicular/seminal neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • anomalies of the abdominal wall

Drugs & Therapeutics for X-Linked Ichthyosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for X-Linked Ichthyosis

Drug clinical trials:

Search ClinicalTrials for X-Linked Ichthyosis

Search NIH Clinical Center for X-Linked Ichthyosis

Search CenterWatch for X-Linked Ichthyosis

Genetic Tests for X-Linked Ichthyosis

Sources:
20GeneTests
See all sources

Genetic tests related to X-Linked Ichthyosis:

id Genetic test Affiliating Genes
1 Ichthyosis, X-linked20 STS

Anatomical Context for X-Linked Ichthyosis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to X-Linked Ichthyosis:

33
Skin

Animal Models for X-Linked Ichthyosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for X-Linked Ichthyosis

Sources:
51PubMed
See all sources

Articles related to X-Linked Ichthyosis:

idTitleAuthorsYear
1
Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation. (23791652)
2013
2
Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene. (23807007)
2013
3
Xp22.3 microdeletions in three Chinese families with X-linked ichthyosis. (19556107)
2009
4
Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation. (15733277)
2005
5
Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy. (10922387)
2000
6
Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp223-pter. (3864397)
1985
7
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. (6930361)
1980

Genetic Variations for X-Linked Ichthyosis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for X-Linked Ichthyosis:

63
id Symbol AA change Variation SNP ID
1STSp.Ser341LeuVAR_007240
2STSp.Trp372ArgVAR_007241
3STSp.Cys446TyrVAR_007242
4STSp.Trp372SerVAR_014020
5STSp.Gly380ArgVAR_014021
6STSp.His444ArgVAR_014022
7STSp.Gln560ProVAR_014023

Expression for genes affiliated with X-Linked Ichthyosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with X-Linked Ichthyosis

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

Pathways for genes affiliated with X-Linked Ichthyosis

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 30KEGG, 54Reactome
See all sources

Pathways related to X-Linked Ichthyosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Estrone metabolism
Hide members
10.0STS, SULT2A1
210.0STS, SULT2A1
3
Hide members
9.8ARSH, STS, SUMF1
4
Hide members
9.8ARSH, STS, SUMF1

Compounds for genes affiliated with X-Linked Ichthyosis

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB
See all sources

Compounds related to X-Linked Ichthyosis according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
14-methylumbelliferyl sulfate4510.4ARSH, STS
2estradiol sulfate4510.4ARSH, STS
3estrone-3-o-sulfamate4510.4STS, ARSH
4medrogestone4510.4STS, ARSH
5norelgestromin45 1111.4ARSH, STS
6androsterone sulfate45 2411.4STS, SULT2A1
7promegestone45 2911.4ARSH, STS
8mucopolysaccharide4510.4STS, ARSH
9androstenediol4510.4STS, ARSH
10arsenate4510.4FLG, STS
11cerebroside4510.4STS, ARSH
12formylglycine4510.3ARSH, SUMF1
13Dehydroepiandrosterone11 2411.3STS, SULT2A1
14nomegestrol acetate4510.3ARSH, STS
153-phosphoadenosine 5-phosphosulfate4510.2SULT2A1, STS
16cholesterol-sulfate45 1111.2STS, SULT2A1, TGM1
17pregnenolone sulfate4510.2SULT2A1, STS, ARSH
18dydrogesterone29 45 1112.2CGA, STS, ARSH
19dhea4510.1ARSH, STS, SULT2A1
20calcipotriol45 60 29 1113.1TGM1, FLG
213beta-hydroxysteroid4510.1SULT2A1, CGA, STS
22estrone45 29 11 2413.0SULT2A1, STS, ARSH
23hydroxysteroid4510.0SULT2A1, STS
24progestin4510.0CGA, STS, ARSH
25sulfate45 2411.0ARSH, STS, SULT2A1
26letrozole45 50 60 1113.0CGA, STS
27tibolone4510.0ARSH, STS
2817beta-hydroxysteroid459.9ARSH, STS, CGA, SULT2A1
29dehydroepiandrosterone sulfate459.9ARSH, STS, CGA, SULT2A1
30dihydrotestosterone45 29 11 2412.9ARSH, STS, CGA
31tamoxifen45 50 29 1112.8ARSH, STS, CGA, SULT2A1
32danazol45 11 2411.8STS, ARSH
33estradiol45 11 2411.7SULT2A1, CGA, STS, ARSH
34progesterone45 60 29 11 2413.6ARSH, STS, CGA, SULT2A1, TGM1
35steroid459.2KAL1, ARSH, STS, FLG, CGA, SULT2A1

GO Terms for genes affiliated with X-Linked Ichthyosis

Sources:
16Gene Ontology
See all sources

Cellular components related to X-Linked Ichthyosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.8SUMF1, STS, ARSH

Biological processes related to X-Linked Ichthyosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1post-translational protein modificationGO:0436879.8SUMF1, STS, ARSH
2glycosphingolipid metabolic processGO:0066879.7SUMF1, STS, ARSH
3sphingolipid metabolic processGO:0066659.5SUMF1, STS, ARSH

Products for genes affiliated with X-Linked Ichthyosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Ichthyosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet