Summaries for X-linked Ichthyosis

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44Wikipedia, 33OMIM, 22MalaCards
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Wikipedia: X-linked ichthyosis (XLI) (also known as \"Steroid sulfatase deficiency,\" and \"X-linked recessive...44 more...

MalaCards: X-linked Ichthyosis, also known as placental steroid sulfatase deficiency, is related to harlequin type ichthyosis and chondrodysplasia punctata. An important gene associated with X-linked Ichthyosis is STS (steroid sulfatase (microsomal), isozyme S), and among its related pathways are Androstenedione and testosterone biosynthesis and metabolism p.1 and Androstenedione and testosterone biosynthesis and metabolism p.1. The compounds estradiol sulfate and 4-methylumbelliferyl sulfate have been mentioned in the context of this disorder. Affiliated tissues include skin and b cells.

OMIM: 308100

Aliases & Descriptions for X-linked Ichthyosis

Sources:
6Disease Ontology, 30NIH Rare Diseases, 16GeneTests, 8DISEASES, 33OMIM, 32Novoseek , 43UMLS, 40SNOMED-CT, 27NCIt, 24MeSH
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Aliases & Descriptions:

x-linked ichthyosis 6 30 8
placental steroid sulfatase deficiency 30 16 43
steroid sulfatase deficiency disease 30 16
ichthyosis, x-linked 33 43
x linked ichthyosis 30 16
x-linked ichthyosis with steryl-sulphatase deficiency 6
x-linked placental steryl-sulphatase deficiency 6
x-linked recessive ichthyosis 6
steroid sulfatase deficiency 30
congenital ichthyosis 43
ichthyosis x-linked 32
ssdd 30
ssd 30

External Ids:

SNOMED-CT40 72523005, 402771003, 254160003 205552006, more

Related Diseases for X-linked Ichthyosis

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13GeneCards, 14GeneDecks
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Diseases related to x-linked ichthyosis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1harlequin type ichthyosis29.4TGM1, FLG
2chondrodysplasia punctata29.2SUMF1, XG, STS, ARSH
3chondrodysplasia29.2STS, SUMF1, ARSH, XG
4renal agenesis29.0KAL1, STS, TGM1
5anosmia28.7XG, KAL1
6kallmann syndrome28.7VCX, VCX3A, VCX3B, XG, KAL1, NLGN4X
7mental retardation, x-linked28.4VCX2, VCX3A, VCX3B, NLGN4X, STS
8ichthyosis28.3VCX3A, VCY, VCY1B, XG, XGPY2, KAL1
9hypogonadism28.0XG, KAL1, SULT2A1, STS
10congenital ichthyosiform erythroderma27.9FLG, STS, TGM1
11endometriosis of ovary13.2STS, ARSH
12gonadoblastoma13.0VCY1B, VCY
13glucocorticoid deficiency13.0STS, FLG
14pachyonychia congenita12.9FLG, KRT86
15ichthyosis vulgaris12.9TGM1, STS, FLG
16epidermolytic hyperkeratosis12.8FLG, KRT86, TGM1
17netherton syndrome12.7TGM1, FLG
18color blindness12.6XG, XGPY2
19mucolipidosis ii12.5SUMF1, ARSH
20epidermolysis bullosa simplex12.5FLG, KRT86
21mucosulfatidosis12.5ARSH, SUMF1, STS
22alopecia12.5FLG, STS, KRT86, TGM1
23metachromatic leukodystrophy12.4ARSH, SUMF1, STS
24skin disease12.4STS, ARSH, TGM1, FLG
25albinism12.3ARSH, KAL1, STS, VCX3A, XGPY2
26leukodystrophy12.3ARSH, STS, SUMF1
27intellectual disability12.2NLGN4X, VCX3B, VCX, VCX3A, STS
28mayer-rokitansky-kuster-hauser syndrome12.1KAL1, FLG, ARSH, STS
29ocular albinism10.8STS, VCX, VCX2, VCX3A, VCX3B, XG
30autosomal recessive congenital ichthyosis9.5
31placental steroid sulfatase deficiency9.3
32chondrodysplasia punctata with steroid sulfatase deficiency7.9
33speech-sound disorder7.7
34cataract and congenital ichthyosis7.2
35cyp4f22-related autosomal recessive congenital ichthyosis7.2
36nipal4-related autosomal recessive congenital ichthyosis7.2
37pnpla1-related autosomal recessive congenital ichthyosis7.2
38tgm1-related autosomal recessive congenital ichthyosis7.2
39abca12-related autosomal recessive congenital ichthyosis7.2
40alox12b-related autosomal recessive congenital ichthyosis7.2
41aloxe3-related autosomal recessive congenital ichthyosis7.2
42congenital ichthyosis, microcephalus, quadriplegia7.2
43heterotopia7.0
44periventricular nodular heterotopia7.0
45ichthyosis congenita biliary atresia6.7
46ichthyosis mental retardation dwarfism renal impairment6.7
47ichthyosis with confetti6.7
48ichthyosis, nonlamellar and nonerythrodermic, congenital6.7
49photosensitive trichothiodystrophy6.7
50sjogren-larsson syndrome6.7

Graphical network of the top 20 diseases related to x-linked ichthyosis:



Graphical network of diseases related to x-linked ichthyosis

Clinical Features for X-linked Ichthyosis

Sources:
33OMIM
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Clinical features from OMIM: 308100

Drugs & Therapeutics for X-linked Ichthyosis

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for x-linked ichthyosis

Drug clinical trials:

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Search NIH Clinical Center for x-linked ichthyosis

Search CenterWatch for x-linked ichthyosis

Genetic Tests for X-linked Ichthyosis

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16GeneTests
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Genetic tests related to x-linked ichthyosis:

id Genetic test Affiliating Genes
1 X-linked Ichthyosis
clinical/research
STS

Anatomical Context for X-linked Ichthyosis

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22MalaCards
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MalaCards organs/tissues related to x-linked ichthyosis:

22
Skin, B cells

Phenotypes for genes affiliated with X-linked Ichthyosis

Publications for genes affiliated with X-linked Ichthyosis

Sources:
35PubMed
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Articles related to x-linked ichthyosis:

(show all 45)
idTitleAuthorsYearAffiliating Genes
1Analysis of the STS gene in 40 patients with recessiv e X-linked ichthyosis: a high frequency of partial deletions in a Spanish popul ation. (20236202)CaA+ueto J.... GonzA!lez-Sarmiento R.2010STS
2HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase. (20722631)Preumont A.... Van Schaftingen E.2010HDHD1
3X-linked ichthyosis: an oculocutaneous genodermatosis . (20080321)Fernandes N.F.... Schwartz R.A.2010STS
4Evidence for genetic modifiers other than filaggrin m utations in X-linked ichthyosis. (20149601)Gruber R.... Schmuth M.2010STS, FLG
5Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) gene. (19200188)Gonzalez-Huerta L.... Cuevas-Covarrubias S.2009STS
6X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. (18413370)Kent L.... Yates J.R.2008STS, NLGN4X
7Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis. (18076704)Cuevas-Covarrubias S.A.... Gonzalez-Huerta L.M.2008STS, VCX3A, VCX2
8Segregation analysis in X-linked ichthyosis: paternal transmission of the affected X-chromosome. (18205863)Toral-Lopez J.... Cuevas-Covarrubias S.A.2008STS
9Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation. (17113756)Hosomi N.... Ishii M.2007STS
10Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis. (17468528)Krishnamurthy S.... Yadav S.2007STS, TGM1
11Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. (17657246)Liao H.... McLean W.H.2007STS, FLG
12Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. (15888481)Van Esch H.... Froyen G.2005STS, VCX, VCX3A
13STS gene in a pedigree with X-linked ichthyosis. (16196306)Liu A.... Liu Y.2005STS, KRT86
14Mutations in X-linked ichthyosis disrupt the active site structure of estrone/DHEA sulfatase. (15607112)Ghosh D.2004STS
15End-stage renal failure in a child with X-linked ichthyosis. (12644929)Matsukura H.... Miyawaki T.2003STS
16Deletion of exons 1-5 of the STS gene causing X-linked ichthyosis. (11231321)Valdes-Flores M.... Cuevas-Covarrubias S.A.2001STS
17Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis. (11477606)Valdes-Flores M.... Cuevas-Covarrubias S.A.2001STS
18Molecular analysis of X-linked ichthyosis in Japan. (11910205)Sugawara T.... Fujimoto S.2001STS
19Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population. (11844872)Jimenez Vaca A.L.... Cuevas-Covarrubias S.A.2001STS
20Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques. (10759956)Aviram-Goldring A.... Peleg L.2000STS
21Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis. (10692123)Valdes-Flores M.... Cuevas-Covarrubias S.A.2000STS
22Novel point mutations in the steroid sulfatase gene in patients with X-linked ichthyosis: transfection analysis using the mutated genes. (10844566)Oyama N.... Kaneko F.2000STS
23PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene. (10679952)Sugawara T.... Fujimoto S.2000STS
24An atypical contiguous gene syndrome: molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis. (10396356)Maya-Nunez G.... Mendez J.P.1999KAL1
25Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. (9727739)WeissAPrtel R.... Meitinger T.1998STS
26Deletion pattern of the steroid sulphatase gene in Japanese patients with X-linked ichthyosis. (9764155)Saeki H.... Ishibashi Y.1998STS
27Prenatal diagnosis of X-linked ichthyosis using molecular cytogenetics. (9101220)Santolaya-Forgas J.... McCorquadale D.J.1997STS
28Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. (9252398)Alperin E.S.... Shapiro L.J.1997STS
29X-linked ichthyosis in Mexico: high frequency of deletions in the steroid sulfatase encoding gene. (9375723)Cuevas-Covarrubias S.A.... Orozco Orozco E.1997STS
30A novel point mutation in the steroid sulfatase gene in X-linked ichthyosis. (9242515)Morita E.... Yamamoto S.1997STS
31A model of corrective gene transfer in X-linked ichthyosis. (9175741)Freiberg R.A.... Khavari P.A.1997STS
32A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction. (8615047)Nomura K.... Hashimoto I.1995STS
33Cholesterol sulfate is not degraded but does not accumulate in Epstein-Barr virus-transformed lymphoid cells from patients with X-linked ichthyosis. (7548238)Tempesta M.C.... Levade T.1995STS
34X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies. (8588575)Robledo R.... Filippi G.1995STS
35Clinical pathologic correlation of superficial corneal opacities in X-linked ichthyosis. (7943126)Macsai M.S.... Doshi H.1994STS
36Correction of steroid sulfatase deficiency by gene transfer into basal cells of tissue-cultured epidermis from patients with recessive X-linked ichthyosis. (8262159)Jensen T.G.... Bolund L.1993STS
37Steroid sulfatase deficiency in Japanese patients: characterization of X-linked ichthyosis by using polymerase chain reaction. (8186420)Sugawara T.... Makita A.1993STS
38Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. (1539590)Basler E.... Ballabio A.1992STS
39Ocular findings in X-linked ichthyosis: a survey on 38 cases. (1923309)Costagliola C.... Delfino M.1991STS
40Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. (1785631)Ballabio A.... Strisciuglio P.1991STS
41Two cases of X-linked ichthyosis associated with myopathies (2253421)Ishikawa Y.... Minami R.1990STS
42Steroid sulfatase activity in nails: screening for X-linked ichthyosis. (2080119)Matsumoto T.... Ueda K.1990STS
43X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene. (3165728)Ballabio A.... Andria G.1988STS
44X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. (3007328)Ballabio A.... Andria G.1986XG
45Further evidence for the assignment of the steroid sulfatase X-linked ichthyosis locus to the telomer of Xp. (6948769)Muller C.R.... Ropers H.H.1981STS

Expression for genes affiliated with X-linked Ichthyosis

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with X-linked Ichthyosis

Pathways for genes affiliated with X-linked Ichthyosis

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41Thomson Reuters, 10EMD Millipore
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Pathways related to x-linked ichthyosis according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1Androstenedione and testosterone biosynthesis and metabolism p.1419.9SULT2A1, STS
2Androstenedione and testosterone biosynthesis and metabolism p.1109.6SULT2A1, STS

Compounds for genes affiliated with X-linked Ichthyosis

Sources:
32Novoseek , 9DrugBank, 18HMDB, 42Tocris Bioscience
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Compounds related to x-linked ichthyosis according to GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1estradiol sulfate32 10.3STS, ARSH
24-methylumbelliferyl sulfate32 10.3STS, ARSH
3medrogestone32 10.3ARSH, STS
4estrone-3-o-sulfamate32 10.3ARSH, STS
5norelgestromin32 9 9 12.2STS, ARSH
6dydrogesterone32 9 9 12.2STS, ARSH
7androsterone sulfate32 18 11.2STS, SULT2A1
8promegestone32 10.2ARSH, STS
9mucopolysaccharide32 10.2STS, ARSH
10androstenediol32 10.2ARSH, STS
11cerebroside32 10.2STS, ARSH
12nomegestrol acetate32 10.1STS, ARSH
13Dehydroepiandrosterone9 18 9 12.1SULT2A1, STS
14arsenate32 10.0FLG, STS
153-phosphoadenosine 5-phosphosulfate32 10.0SULT2A1, STS
16danazol32 9 18 9 12.9ARSH, STS
17cholesterol-sulfate32 9 9 11.9SULT2A1, TGM1, STS
18pregnenolone sulfate32 9.9ARSH, SULT2A1, STS
1917beta-hydroxysteroid32 9.8STS, SULT2A1, ARSH
20dehydroepiandrosterone sulfate32 9.8STS, SULT2A1, ARSH
21hydroxysteroid32 9.8SULT2A1, STS
22dhea32 9.7ARSH, SULT2A1, STS
23calcipotriol32 42 9 9 12.7FLG, TGM1
24estrone32 9 18 9 12.6ARSH, SULT2A1, STS
25formylglycine32 9.6SUMF1, ARSH
26tibolone32 9.6ARSH, STS
27sulfate32 18 10.6STS, SULT2A1, ARSH
28steroid32 8.5STS, TGM1, SULT2A1, ARSH, FLG, KAL1

GO Terms for genes affiliated with X-linked Ichthyosis

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12Gene Ontology
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Cellular components related to x-linked ichthyosis according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.1ARSH, SUMF1, STS

Biological processes related to x-linked ichthyosis according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sphingolipid metabolic processGO:0066659.1ARSH, SUMF1, STS
2glycosphingolipid metabolic processGO:0066878.8ARSH, SUMF1, STS

Sources for X-linked Ichthyosis

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS