SSD
MCID: XLN001
MIFTS: 64

X-Linked Ichthyosis (SSD) malady

Eye diseases, Skin diseases categories

Summaries for X-Linked Ichthyosis

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 ichthyosis vulgaris and hypogonadism, and has symptoms including renal failure, agenesis/hypoplasia/aplasia of kidneys and stomach/gastric anomaly. 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, testes and olfactory bulb.

Description from OMIM:46 308100,300001

Aliases & Classifications for X-Linked Ichthyosis

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 9diseasecard, 20GeneTests, 46OMIM, 60UMLS, 44Novoseek, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 10 48
ichthyosis, x-linked 9 20 46 60
placental steroid sulfatase deficiency 42 60
steroid sulfatase deficiency disease 42 60
steroid sulfatase deficiency 42 48
x-linked ichthyosis with steryl-sulphatase deficiency 8
x-linked placental steryl-sulphatase deficiency 8
syndromic recessive x-linked ichthyosis 48
x-linked recessive ichthyosis 8
recessive x-linked ichthyosis 48
syndromic x-linked ichthyosis 48
congenital ichthyosis 60
speech-sound disorder 60
ichthyosis x-linked 44
syndromic rxli 48
rxli 48
ssdd 42
xli 48
ssd 42


External Ids:

Disease Ontology8 DOID:1700
MeSH34 D016114
NCIt39 C84779
MESH via Orphanet35 D016114
ICD10 via Orphanet26 Q80.1
SNOMED-CT via Orphanet57 402771003, 72523005
UMLS via Orphanet61 C0079588, C2717836
ICD1025 Q80.1

Related Diseases for X-Linked Ichthyosis

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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 118)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis vulgaris30.8TGM1, STS, FLG
2hypogonadism30.7STS, CGA, KAL1
3kallmann syndrome30.6VCX, CGA, KAL1, STS, NLGN4X, VCX2
4cryptorchidism30.3STS, KAL1, CGA
5congenital ichthyosiform erythroderma30.2FLG, TGM1
6epidermolytic hyperkeratosis30.2TGM1, FLG, KRT86
7renal agenesis30.1KAL1
8epidermolysis bullosa simplex30.1KRT86, FLG
9harlequin type ichthyosis30.1FLG, TGM1
10alopecia29.8KRT86
11netherton syndrome29.8TGM1
12autosomal recessive congenital ichthyosis10.7
13chondrodysplasia punctata with steroid sulfatase deficiency10.4
14peeling skin syndrome10.4
15hypertrophic pyloric stenosis10.3
16epidermolysis bullosa10.3
17pyloric stenosis10.3
18speech disorder10.3
19cataract and congenital ichthyosis10.3
20ichthyosis, autosomal recessive 4b10.3
21ichthyosis, congenital, autosomal recessive 110.3
22ichthyosis, congenital, autosomal recessive 210.3
23x-linked disease10.3
24ichthyosis, spastic quadriplegia, and mental retardation10.2
25periventricular nodular heterotopia10.2
26polymicrogyria10.2
27sjogren-larsson syndrome10.2
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 with hypotrichosis10.2
33ichthyosis, congenital, autosomal recessive 710.2
34ichthyosis, congenital, autosomal recessive 910.2
35ichthyosis, congenital, autosomal recessive 310.2
36ichthyosis, congenital, autosomal recessive 510.2
37congenital ichthyosis - microcephalus - tetraplegia10.2
38reading disorder10.1
39lissencephaly10.1
40spinal muscular atrophy, x-linked infantile10.1
41attention deficit hyperactivity disorder10.1
42burns10.1
43hypohidrotic ectodermal dysplasia10.1
44end stage renal failure10.1
45hypogonadotropism10.1
46down syndrome10.1
47recurrent corneal erosion10.1
48acute leukemia10.1
49cervicitis10.1
50complement deficiency10.1

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



Diseases related to x-linked ichthyosis

Clinical Features for X-Linked Ichthyosis

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

308100,300001

Clinical synopsis from OMIM:

308100

Symptoms:

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

Drugs & Therapeutics for X-Linked Ichthyosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Sources:
20GeneTests
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Genetic tests related to X-Linked Ichthyosis:

id Genetic test Affiliating Genes
1 Ichthyosis, X-Linked20 STS

Anatomical Context for X-Linked Ichthyosis

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Sources:
32MalaCards
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MalaCards organs/tissues related to X-Linked Ichthyosis:

32
Skin, Testes, Olfactory bulb, Kidney, Eye, Lung

Animal Models for X-Linked Ichthyosis or affiliated genes

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Publications for X-Linked Ichthyosis

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Sources:
50PubMed
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Articles related to X-Linked Ichthyosis:

(show top 50)    (show all 197)
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
X-linked ichthyosis along with epidermolysis bullosa. (22629078)
2012
3
X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient. (20523032)
2010
4
Xp22.3 microdeletions in three Chinese families with X-linked ichthyosis. (19556107)
2009
5
X-linked recessive ichthyosis. (16403384)
2005
6
Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-HA1nermann-Happle syndrome). (14726822)
2004
7
Male-pattern baldness is common in men with X-linked recessive ichthyosis. (14571075)
2003
8
A novel association in a family with oculo-auriculo-vertebral spectrum and x-linked ichthyosis. (12657025)
2003
9
X-linked ichthyosis in southern Italy. (14576695)
2003
10
End-stage renal failure in a child with X-linked ichthyosis. (12644929)
2003
11
X-linked ichthyosis and undescended testes. (12358837)
2002
12
Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis. (11477606)
2001
13
Higher prevalence of X-linked ichthyosis vs. ichthyosis vulgaris in Mexico. (10440291)
1999
14
Recessive x-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality. (9804339)
1998
15
Are atopy and palm-sole hyperlinearity clinical tools in the differential diagnosis between ichthyosis vulgaris and X-linked ichthyosis? (9769606)
1998
16
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study. (9851061)
1998
17
Prenatal diagnosis of X-linked ichthyosis using molecular cytogenetics. (9101220)
1997
18
Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. (9252398)
1997
19
A novel point mutation in the steroid sulfatase gene in X-linked ichthyosis. (9242515)
1997
20
A model of corrective gene transfer in X-linked ichthyosis. (9175741)
1997
21
Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis. (7726134)
1995
22
X-linked dominant chondrodysplasia punctata/ichthyosis/cataract syndrome in males. (7677158)
1995
23
Clinical pathologic correlation of superficial corneal opacities in X-linked ichthyosis. (7943126)
1994
24
X-linked dominant ichthyosis with peroxisomal deficiency. An ultrastructural and ultracytochemical study of the Conradi-HA1nermann syndrome and its murine homologue, the bare patches mouse. (8129411)
1994
25
Steroid sulfatase deficiency in Japanese patients: characterization of X-linked ichthyosis by using polymerase chain reaction. (8186420)
1993
26
Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. (1539590)
1992
27
X-linked ichthyosis and congenital abdominal wall defects. (1825203)
1991
28
Two cases of X-linked ichthyosis associated with myopathies]. (2253421)
1990
29
Proliferation and differentiation of cultured epidermal cells from patients with X-linked ichthyosis and ichthyosis vulgaris. (1969216)
1990
30
Commercial assay for steroid sulphatase activity in X-linked ichthyosis. (2095187)
1990
31
Gene diagnosis in X-linked ichthyosis. (2493225)
1989
32
Calorimetric and electron spin resonance examination of lipid phase transitions in human stratum corneum: molecular basis for normal cohesion and abnormal desquamation in recessive X-linked ichthyosis. (2844913)
1988
33
Acitretin in the symptomatic therapy for severe recessive x-linked ichthyosis. (2965549)
1988
34
Multipoint linkage analysis of steroid sulfatase (X-linked ichthyosis) and distal Xp markers. (3478297)
1987
35
A failure of detection of complementation group in X-linked ichthyosis. (2442949)
1987
36
Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis. (3531932)
1986
37
Carrier identification in steroid sulphatase deficiency and recessive X-linked ichthyosis. (2424236)
1986
38
Prenatal diagnosis and variable presentation of recessive X-linked ichthyosis. (3857936)
1985
39
Topical cholesterol treatment of recessive X-linked ichthyosis. (6147684)
1984
40
Hair root analysis in X-linked ichthyosis. (6422158)
1983
41
X-linked recessive ichthyosis vulgaris: rapid identification by lipoprotein electrophoresis. (6682648)
1983
42
Gas-chromatographic determination of cholesterol sulfate in plasma and erythrocytes, for the diagnosis of recessive X-linked ichthyosis. (6222850)
1983
43
X-linked ichthyosis associated with hypertrophic pyloric stenosis in three brothers. (7196302)
1981
44
Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis. (6947980)
1981
45
X-linked ichthyosis. (7009454)
1981
46
Autosomal dominant and X-linked ichthyosis in the same family. Biochemical analysis of steroid sulfatase activity. (6932268)
1980
47
Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome. (293682)
1979
48
X-linked ichthyosis: a metabolic disease. (160423)
1979
49
Ichthyosis vulgaris showing features of the autosomal dominant and X-linked recessive variants in the same family. (668182)
1978
50
Possible genetic heterogeneity of X-linked ichthyosis. (5173313)
1971

Genetic Variations for X-Linked Ichthyosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for X-Linked Ichthyosis:

62
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

Expression for genes affiliated with X-Linked Ichthyosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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12EMD Millipore, 37NCBI BioSystems Database, 53Reactome, 29KEGG
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Pathways related to X-Linked Ichthyosis according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with X-Linked Ichthyosis

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB
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Compounds related to X-Linked Ichthyosis according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
14-methylumbelliferyl sulfate4410.4ARSH, STS
2estradiol sulfate4410.4ARSH, STS
3estrone-3-o-sulfamate4410.4STS, ARSH
4medrogestone4410.4STS, ARSH
5norelgestromin44 1111.4ARSH, STS
6androsterone sulfate44 2411.4STS, SULT2A1
7promegestone44 2811.4ARSH, STS
8mucopolysaccharide4410.4STS, ARSH
9androstenediol4410.4STS, ARSH
10arsenate4410.4FLG, STS
11cerebroside4410.4STS, ARSH
12formylglycine4410.3ARSH, SUMF1
13Dehydroepiandrosterone11 2411.3STS, SULT2A1
14nomegestrol acetate4410.3ARSH, STS
153-phosphoadenosine 5-phosphosulfate4410.2SULT2A1, STS
16cholesterol-sulfate44 1111.2STS, SULT2A1, TGM1
17pregnenolone sulfate4410.2SULT2A1, STS, ARSH
18dydrogesterone28 44 1112.2CGA, STS, ARSH
19dhea4410.1ARSH, STS, SULT2A1
20calcipotriol44 59 28 1113.1TGM1, FLG
213beta-hydroxysteroid4410.1SULT2A1, CGA, STS
22estrone44 28 11 2413.0SULT2A1, STS, ARSH
23hydroxysteroid4410.0SULT2A1, STS
24progestin4410.0CGA, STS, ARSH
25sulfate44 2411.0ARSH, STS, SULT2A1
26letrozole44 49 59 1113.0CGA, STS
27tibolone4410.0ARSH, STS
2817beta-hydroxysteroid449.9ARSH, STS, CGA, SULT2A1
29dehydroepiandrosterone sulfate449.9ARSH, STS, CGA, SULT2A1
30dihydrotestosterone44 28 11 2412.9ARSH, STS, CGA
31tamoxifen44 49 28 1112.8ARSH, STS, CGA, SULT2A1
32danazol44 11 2411.8STS, ARSH
33estradiol44 11 2411.7SULT2A1, CGA, STS, ARSH
34progesterone44 59 28 11 2413.6ARSH, STS, CGA, SULT2A1, TGM1
35steroid449.2KAL1, ARSH, STS, FLG, CGA, SULT2A1

GO Terms for genes affiliated with X-Linked Ichthyosis

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Ichthyosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet