SSD
MCID: XLN001
MIFTS: 60

X-Linked Ichthyosis (SSD) malady

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

Summaries for X-Linked Ichthyosis

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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 mental retardation, and has symptoms including undescended/ectopic testes/cryptorchidia/unfixed testes, undescended/ectopic testes/cryptorchidia/unfixed testes and hyperactivity/attention deficit. An important gene associated with X-Linked Ichthyosis is STS (steroid sulfatase (microsomal), isozyme S), and among its related pathways are PTM- gamma carboxylation, hypusine formation and arylsulfatase activation and Estrone metabolism. The compounds estradiol sulfate and 4-methylumbelliferyl sulfate have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and olfactory bulb.

Description from OMIM:48 308100,300001

Aliases & Classifications for X-Linked Ichthyosis

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Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 59SNOMED-CT, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
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 9 44 11 50
ichthyosis, x-linked 10 48 63
placental steroid sulfatase deficiency 44 63
steroid sulfatase deficiency disease 44 63
steroid sulfatase deficiency 44 50
x linked ichthyosis 44 21
x-linked ichthyosis with steryl-sulphatase deficiency 9
x-linked placental steryl-sulphatase deficiency 9
syndromic recessive x-linked ichthyosis 50
syndromic x-linked ichthyosis 50
x-linked recessive ichthyosis 9
recessive x-linked ichthyosis 50
congenital ichthyosis 63
speech-sound disorder 63
ichthyosis x-linked 46
syndromic rxli 50
rxli 50
ssdd 44
xli 50
ssd 44


External Ids:

Disease Ontology9 DOID:1700
MeSH36 D016114
NCIt41 C84779
MESH via Orphanet37 D016114
ICD10 via Orphanet27 Q80.1
SNOMED-CT via Orphanet60 402771003, 72523005
UMLS via Orphanet64 C0079588, C2717836
ICD1026 Q80.1

Related Diseases for X-Linked Ichthyosis

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18GeneCards, 19GeneDecks
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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 58)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis vulgaris31.0TGM1, FLG, STS
2mental retardation30.9VCX3A, STS, NLGN4X
3hypogonadism30.8KAL1, STS, CGA
4kallmann syndrome30.5CGA, NLGN4X, STS, VCX2, VCX3A, VCX
5renal agenesis30.3KAL1
6epidermolysis bullosa simplex30.3KRT86, FLG
7cryptorchidism30.2KAL1, STS, CGA
8chondrodysplasia punctata with steroid sulfatase deficiency10.5
9hypertrophic pyloric stenosis10.4
10epidermolysis bullosa10.4
11pyloric stenosis10.4
12chondrodysplasia10.3
13steroid-resistant nephrotic syndrome10.2
14periventricular nodular heterotopia10.2
15polymicrogyria10.2
16unilateral polymicrogyria10.2
17attention deficit hyperactivity disorder10.1
18burns10.1
19end stage renal failure10.1
20hypogonadotropism10.1
21hypohidrotic ectodermal dysplasia10.1
22down syndrome10.1
23cervicitis10.1
24corneal dystrophy10.1
25glomerulonephritis10.1
26leukemia10.1
27lung cancer10.1
28lymphoblastic leukemia10.1
29myopathy10.1
30nephrotic syndrome10.1
31ophthalmoplegia10.1
32tinea corporis10.1
33dominant ichthyosis vulgaris10.1
34ectodermal dysplasia10.1
35recessive dystrophic epidermolysis bullosa10.1
36autosomal dominant progressive external ophthalmoplegia10.1
37abdominal wall defect10.1
38atopy10.1
39short stature10.1
40testicular microlithiasis10.1
41pre-descemet corneal dystrophy10.1
42unilateral renal agenesis10.1
43pachyonychia congenita10.1KRT86
44mucosulfatidosis10.1STS, ARSH
45chondrodysplasia punctata syndrome10.1ARSH, STS
46metachromatic leukodystrophy10.1ARSH, STS
47harlequin type ichthyosis10.1TGM1, FLG
48congenital ichthyosiform erythroderma10.1TGM1, FLG
49anencephaly10.0CGA, STS
50keratosis10.0KRT86, FLG

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



Diseases related to x-linked ichthyosis

Symptoms for X-Linked Ichthyosis

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

308100

Clinical features from OMIM:

308100,300001

Symptoms:

50 (show all 23)
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hyperactivity/attention deficit
  • insterstitial/subtelomeric microdeletion/deletion
  • 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
  • x-linked recessive inheritance
  • short stature/dwarfism/nanism
  • ichthyosis/ichthyosiform dermatitis
  • corneal clouding/opacity/vascularisation
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • late puberty/hypogonadism/hypogenitalism
  • renal failure
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • stomach/gastric anomaly
  • dry/squaly skin/exfoliation
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • seizures/epilepsy/absences/spasms/status epilepticus

Drugs & Therapeutics for X-Linked Ichthyosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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:
21GeneTests
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Genetic tests related to X-Linked Ichthyosis:

id Genetic test Affiliating Genes
1 Ichthyosis, X-Linked21 STS

Anatomical Context for X-Linked Ichthyosis

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Sources:
34MalaCards
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MalaCards organs/tissues related to X-Linked Ichthyosis:

34
Skin, Testes, Olfactory bulb, Eye, Kidney, Lung

Animal Models for X-Linked Ichthyosis or affiliated genes

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Publications for X-Linked Ichthyosis

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Sources:
53PubMed
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Articles related to X-Linked Ichthyosis:

(show top 50)    (show all 177)
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
Genetic analysis of a 12-year-old boy with X-linked ichthyosis in association with sclerosing glomerulonephritis. (23939749)
2013
3
Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene. (23807007)
2013
4
Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population. (20236202)
2010
5
X-linked ichthyosis: an oculocutaneous genodermatosis. (20080321)
2010
6
Xp22.3 microdeletions in three Chinese families with X-linked ichthyosis. (19556107)
2009
7
Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) gene. (19200188)
2009
8
Fluorescence in situ hybridization analysis is useful for the diagnosis of the carrier state of X-linked ichthyosis. (18412879)
2008
9
Topical tazarotene 0.05% versus glycolic acid 70% treatment in X-linked ichthyosis due to extensive deletion of the STS gene. (16191859)
2005
10
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. (15888481)
2005
11
Prenatal diagnosis for placental steroid salfatase deficiency with fluorescence in situ hybridization: a case of X-linked ichthyosis. (14641695)
2003
12
Deletion of exons 1-5 of the STS gene causing X-linked ichthyosis. (11231321)
2001
13
Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis. (11477606)
2001
14
Molecular analysis of X-linked ichthyosis in Japan. (11910205)
2001
15
X-linked ichthyosis associated with congenital dislocation of the hip. (11554998)
2001
16
Deletion 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)
2000
17
Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis. (10692123)
2000
18
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. (9727739)
1998
19
Antenatal molecular diagnosis of X-linked ichthyosis by maternal serum screening for Down's syndrome. (9623797)
1998
20
Clinicopathologic study of the cornea in X-linked ichthyosis. (9076217)
1997
21
Heterogeneity of X-linked ichthyosis. (9332673)
1997
22
A case of recessive X-linked ichthyosis: scale-specific abnormalities of lipid composition may explain the pathogenesis of the skin manifestation. (9114611)
1997
23
Hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis, and renal malformation syndrome. (7704955)
1995
24
Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis. (7726134)
1995
25
Steroid sulfatase deficiency in Japanese patients: characterization of X-linked ichthyosis by using polymerase chain reaction. (8186420)
1993
26
Ocular findings in X-linked ichthyosis: a survey on 38 cases. (1923309)
1991
27
X-linked ichthyosis and congenital abdominal wall defects. (1825203)
1991
28
Steroid sulfatase activity in nails: screening for X-linked ichthyosis. (2080119)
1990
29
Two cases of X-linked ichthyosis associated with myopathies]. (2253421)
1990
30
Physical mapping of deletion breakpoints in patients with X-linked ichthyosis: evidence for clustering of distal and proximal breakpoints. (1983039)
1990
31
A family with X-linked ichthyosis and hypogonadism. (2493379)
1989
32
X chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis). (3163320)
1988
33
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
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
X-linked ichthyosis and cryptorchidism. (2874061)
1986
37
Lipoprotein electrophoresis in recessive X-linked ichthyosis. (2424217)
1986
38
X-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)
1986
39
Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis. (6592175)
1984
40
Topical cholesterol treatment of recessive X-linked ichthyosis. (6147684)
1984
41
Topical cholesterol treatment of recessive X-linked ichthyosis. (6139672)
1983
42
Prenatal diagnosis of X-linked ichthyosis. (6461439)
1982
43
Current clinical problems in placental steroid or aryl sulphatase C deficiency and the related 'cervical dystocia' and X-linked ichthyosis. (6820435)
1982
44
X-linked ichthyosis associated with hypertrophic pyloric stenosis in three brothers. (7196302)
1981
45
Sex ratio in families with X-linked ichthyosis. (7424916)
1980
46
X-linked ichthyosis. Five families in southern Kyushu. (6999054)
1980
47
Autosomal dominant and X-linked ichthyosis in the same family. Biochemical analysis of steroid sulfatase activity. (6932268)
1980
48
Enzymatic basis of typical X-linked ichthyosis. (82112)
1978
49
X-linked ichthyosis: linkage relationship with the Xg blood groups and other studies in a large Dutch kindred. (5307231)
1969
50
X-LINKED ICHTHYOSIS AND THE XG GROUPS. (14231212)
1964

Variations for X-Linked Ichthyosis

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for X-Linked Ichthyosis:

65
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 X-Linked Ichthyosis:

1
id Gene Name 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 X-Linked Ichthyosis

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2BioGPS, 16Gene 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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Sources:
51PathCards, 56Reactome, 52PharmGKB, 39NCBI BioSystems Database, 61Thomson Reuters
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Compounds for genes affiliated with X-Linked Ichthyosis

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Sources:
46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience
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Compounds related to X-Linked Ichthyosis according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1estradiol sulfate4610.4STS, ARSH
24-methylumbelliferyl sulfate4610.4STS, ARSH
3estrone-3-o-sulfamate4610.4STS, ARSH
4medrogestone4610.4STS, ARSH
5DHEA sulfate2510.4SULT2A1, STS
6norelgestromin46 52 1212.4STS, ARSH
7promegestone46 3011.4STS, ARSH
8androsterone sulfate46 2511.4STS, SULT2A1
9arsenate4610.4STS, FLG
10mucopolysaccharide4610.4ARSH, STS
11androstenediol4610.4ARSH, STS
12cerebroside4610.4ARSH, STS
13Dehydroepiandrosterone25 1211.3STS, SULT2A1
14nomegestrol acetate4610.3STS, ARSH
153-phosphoadenosine 5-phosphosulfate4610.3STS, SULT2A1
16calcipotriol46 62 30 1213.3FLG, TGM1
17tibolone4610.3ARSH, STS
18hydroxysteroid4610.3SULT2A1, STS
19danazol46 25 1212.3ARSH, STS
20letrozole46 52 62 1213.2CGA, STS
21steroidal4610.2ARSH, STS
22cholesterol-sulfate46 1211.2TGM1, SULT2A1, STS
23pregnenolone sulfate4610.2ARSH, STS, SULT2A1
24estrone sulfate46 2511.1ARSH, STS
25dydrogesterone46 30 1212.1ARSH, CGA, STS
26dhea4610.1ARSH, STS, SULT2A1
27phenol46 2511.1SULT2A1, STS
283beta-hydroxysteroid4610.1CGA, STS, SULT2A1
29estrone46 30 25 1213.1SULT2A1, STS, ARSH
30sulfate46 2511.1ARSH, STS, SULT2A1
31progestin4610.0STS, CGA, ARSH
32epoxide4610.0ARSH, STS
33dihydrotestosterone46 30 25 1213.0ARSH, CGA, STS
34gnrh469.8KAL1, CGA, ARSH
35dehydroepiandrosterone sulfate469.8SULT2A1, STS, CGA, ARSH
3617beta-hydroxysteroid469.8SULT2A1, STS, CGA, ARSH
37histidine469.8ARSH, STS, FLG
38tamoxifen46 52 30 1212.8SULT2A1, STS, CGA, ARSH
39estradiol46 25 1211.7SULT2A1, STS, CGA, ARSH
40progestins469.7ARSH, STS
41vitamin d469.6CGA, SULT2A1, TGM1
42testosterone46 62 25 1212.6ARSH, CGA, STS, SULT2A1
43progesterone46 30 62 25 1213.5ARSH, CGA, STS, SULT2A1, TGM1
44lipid469.4TGM1, SULT2A1, FLG, STS, ARSH
45arginine469.3TGM1, FLG, CGA, ARSH
46steroid469.0KAL1, TGM1, SULT2A1, FLG, STS, CGA

GO Terms for genes affiliated with X-Linked Ichthyosis

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17Gene Ontology
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Biological processes related to X-Linked Ichthyosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratinocyte differentiationGO:03021610.0FLG, TGM1
2glycosphingolipid metabolic processGO:0066879.7ARSH, STS

Products for genes affiliated with X-Linked Ichthyosis

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Sources for X-Linked Ichthyosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet