SSD
MCID: XLN001
MIFTS: 61

X-Linked Ichthyosis (SSD) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases categories
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Summaries for X-Linked Ichthyosis

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

MalaCards based summary: X-Linked Ichthyosis, also known as ichthyosis, x-linked, is related to ichthyosis vulgaris and hypogonadism, and has symptoms including hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance, hyperkeratosis/ainhum/hyperkeratotic skin fissures and dry/squaly skin/exfoliation. 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 4-methylumbelliferyl sulfate and estradiol sulfate have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and eye.

Descriptions from OMIM:46 308100,300001

Aliases & Classifications for X-Linked Ichthyosis

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 62UMLS, 9diseasecard, 46OMIM, 20GeneTests, 44Novoseek, 57SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

X-Linked Ichthyosis, Aliases & Descriptions:

Name: X-Linked Ichthyosis 30 8 42 10 48
Ichthyosis, X-Linked 9 46 62
Placental Steroid Sulfatase Deficiency 42 62
Steroid Sulfatase Deficiency Disease 42 62
X-Linked Recessive Ichthyosis 8 62
Recessive X-Linked Ichthyosis 48 46
Steroid Sulfatase Deficiency 42 48
X Linked Ichthyosis 42 20
X-Linked Ichthyosis with Steryl-Sulphatase Deficiency 8
X-Linked Placental Steryl-Sulphatase Deficiency 8
 
Syndromic Recessive X-Linked Ichthyosis 48
Syndromic X-Linked Ichthyosis 48
Speech-Sound Disorder 62
Congenital Ichthyosis 62
Ichthyosis X-Linked 44
Syndromic Rxli 48
Rxli 48
Ssdd 42
Xli 48
Ssd 42


Classifications:

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


External Ids:

Disease Ontology8 DOID:1700
NCIt39 C84779
MeSH34 D016114
MESH via Orphanet35 D016114
ICD10 via Orphanet26 Q80.1
UMLS via Orphanet63 C0079588, C2717836
ICD1025 Q80.1

Related Diseases for X-Linked Ichthyosis

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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 61)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis vulgaris31.3TGM1, FLG, STS
2hypogonadism30.8CGA, STS, KAL1
3renal agenesis30.8KAL1
4mental retardation30.8STS, VCX3A, NLGN4X
5cryptorchidism30.5KAL1, CGA, STS
6kallmann syndrome29.8NLGN4X, KAL1, CGA, STS, VCX2, VCX3A
7chondrodysplasia punctata with steroid sulfatase deficiency10.5
8pachyonychia congenita10.4KRT86
9hypertrophic pyloric stenosis10.4
10pyloric stenosis10.4
11mucosulfatidosis10.3STS, ARSH
12epidermolysis bullosa10.3
13chondrodysplasia10.3
14chondrodysplasia punctata syndrome10.3STS, ARSH
15metachromatic leukodystrophy10.3STS, ARSH
16harlequin type ichthyosis10.3FLG, TGM1
17steroid-resistant nephrotic syndrome10.3
18ichthyosis lamellar 110.2STS, FLG, TGM1
19periventricular nodular heterotopia10.2
20polymicrogyria10.2
21unilateral polymicrogyria10.2
22congenital ichthyosiform erythroderma10.2FLG, TGM1
23epidermolysis bullosa simplex10.2FLG, KRT86
24anencephaly10.2CGA, STS
25keratosis10.2FLG, KRT86
26epidermolytic hyperkeratosis10.2TGM1, FLG, KRT86
27attention deficit hyperactivity disorder10.2
28acute lymphoblastic leukemia10.2
29burns10.2
30ectodermal dysplasia10.2
31end stage renal failure10.2
32glomerulonephritis10.2
33leukemia10.2
34hypogonadotropism10.2
35hypohidrotic ectodermal dysplasia10.2
36down syndrome10.2
37cervicitis10.2
38corneal dystrophy10.2
39lung cancer10.2
40lymphoblastic leukemia10.2
41myopathy10.2
42nephrotic syndrome10.2
43ophthalmoplegia10.2
44tinea corporis10.2
45dominant ichthyosis vulgaris10.2
46oculo-auriculo-vertebral spectrum10.2
47recessive dystrophic epidermolysis bullosa10.2
48autosomal dominant progressive external ophthalmoplegia10.2
49abdominal wall defect10.2
50atopy10.2

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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Symptoms by clinical synopsis from OMIM:

308100

Clinical features from OMIM:

308100,300001

Symptoms:

48 (show all 23)
  • 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
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • anomalies of the abdominal wall
  • stomach/gastric anomaly
  • agenesis/hypoplasia/aplasia of kidneys
  • renal failure
  • late puberty/hypogonadism/hypogenitalism
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • seizures/epilepsy/absences/spasms/status epilepticus
  • testicular/seminal neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • acute leukemia
  • short stature/dwarfism/nanism

HPO human phenotypes related to X-Linked Ichthyosis:

(show all 36)
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 dry skin hallmark (90%) HP:0000958
6 hyperkeratosis hallmark (90%) HP:0000962
7 hypohidrosis hallmark (90%) HP:0000966
8 ichthyosis hallmark (90%) HP:0008064
9 neurological speech impairment typical (50%) HP:0002167
10 attention deficit hyperactivity disorder typical (50%) HP:0007018
11 opacification of the corneal stroma typical (50%) HP:0007759
12 cognitive impairment typical (50%) HP:0100543
13 attention deficit hyperactivity disorder typical (50%) HP:0007018
14 opacification of the corneal stroma typical (50%) HP:0007759
15 cryptorchidism occasional (7.5%) HP:0000028
16 renal insufficiency occasional (7.5%) HP:0000083
17 autism occasional (7.5%) HP:0000717
18 seizures occasional (7.5%) HP:0001250
19 abnormality of neuronal migration occasional (7.5%) HP:0002269
20 acute leukemia occasional (7.5%) HP:0002488
21 abnormality of the stomach occasional (7.5%) HP:0002577
22 abnormality of the abdominal wall occasional (7.5%) HP:0004298
23 short stature occasional (7.5%) HP:0004322
24 abnormality of the sense of smell occasional (7.5%) HP:0004408
25 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
26 testicular neoplasm occasional (7.5%) HP:0010788
27 cryptorchidism occasional (7.5%) HP:0000028
28 autism occasional (7.5%) HP:0000717
29 neurological speech impairment occasional (7.5%) HP:0002167
30 cryptorchidism HP:0000028
31 x-linked recessive inheritance HP:0001419
32 abnormality of metabolism/homeostasis HP:0001939
33 neoplasm HP:0002664
34 congenital ichthyosiform erythroderma HP:0007431
35 opacification of the corneal stroma HP:0007759
36 ichthyosis HP:0008064

Drugs & Therapeutics for X-Linked Ichthyosis

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Drug clinical trials:

Search ClinicalTrials for X-Linked Ichthyosis

Search NIH Clinical Center for X-Linked Ichthyosis

Genetic Tests for X-Linked Ichthyosis

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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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MalaCards organs/tissues related to X-Linked Ichthyosis:

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

Animal Models for X-Linked Ichthyosis or affiliated genes

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Publications for X-Linked Ichthyosis

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Articles related to X-Linked Ichthyosis:

(show top 50)    (show all 182)
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
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
16
Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis. (10692123)
2000
17
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. (9727739)
1998
18
Antenatal molecular diagnosis of X-linked ichthyosis by maternal serum screening for Down's syndrome. (9623797)
1998
19
Clinicopathologic study of the cornea in X-linked ichthyosis. (9076217)
1997
20
Heterogeneity of X-linked ichthyosis. (9332673)
1997
21
A case of recessive X-linked ichthyosis: scale-specific abnormalities of lipid composition may explain the pathogenesis of the skin manifestation. (9114611)
1997
22
Hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis, and renal malformation syndrome. (7704955)
1995
23
Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis. (7726134)
1995
24
Steroid sulfatase deficiency in Japanese patients: characterization of X-linked ichthyosis by using polymerase chain reaction. (8186420)
1993
25
Ocular findings in X-linked ichthyosis: a survey on 38 cases. (1923309)
1991
26
X-linked ichthyosis and congenital abdominal wall defects. (1825203)
1991
27
Steroid sulfatase activity in nails: screening for X-linked ichthyosis. (2080119)
1990
28
Two cases of X-linked ichthyosis associated with myopathies]. (2253421)
1990
29
Physical mapping of deletion breakpoints in patients with X-linked ichthyosis: evidence for clustering of distal and proximal breakpoints. (1983039)
1990
30
A family with X-linked ichthyosis and hypogonadism. (2493379)
1989
31
X chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis). (3163320)
1988
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
Multipoint linkage analysis of steroid sulfatase (X-linked ichthyosis) and distal Xp markers. (3478297)
1987
34
A failure of detection of complementation group in X-linked ichthyosis. (2442949)
1987
35
X-linked ichthyosis and cryptorchidism. (2874061)
1986
36
Lipoprotein electrophoresis in recessive X-linked ichthyosis. (2424217)
1986
37
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
38
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
39
Topical cholesterol treatment of recessive X-linked ichthyosis. (6147684)
1984
40
Topical cholesterol treatment of recessive X-linked ichthyosis. (6139672)
1983
41
Prenatal diagnosis of X-linked ichthyosis. (6461439)
1982
42
Current clinical problems in placental steroid or aryl sulphatase C deficiency and the related 'cervical dystocia' and X-linked ichthyosis. (6820435)
1982
43
X-linked ichthyosis associated with hypertrophic pyloric stenosis in three brothers. (7196302)
1981
44
Sex ratio in families with X-linked ichthyosis. (7424916)
1980
45
X-linked ichthyosis. Five families in southern Kyushu. (6999054)
1980
46
Autosomal dominant and X-linked ichthyosis in the same family. Biochemical analysis of steroid sulfatase activity. (6932268)
1980
47
Enzymatic basis of typical X-linked ichthyosis. (82112)
1978
48
X-linked ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation in two siblings. (4250)
1976
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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UniProtKB/Swiss-Prot genetic disease variations for X-Linked Ichthyosis:

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 X-Linked Ichthyosis:

6
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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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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Compounds for genes affiliated with X-Linked Ichthyosis

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

(show all 46)
idCompoundScoreTop Affiliating Genes
14-methylumbelliferyl sulfate4410.4ARSH, STS
2estradiol sulfate4410.4ARSH, STS
3medrogestone4410.4ARSH, STS
4estrone-3-o-sulfamate4410.4ARSH, STS
5norelgestromin44 50 1112.4ARSH, STS
6DHEA sulfate2410.4STS, SULT2A1
7promegestone44 2811.4ARSH, STS
8androsterone sulfate44 2411.4STS, SULT2A1
9arsenate4410.4STS, FLG
10mucopolysaccharide4410.4STS, ARSH
11androstenediol4410.4ARSH, STS
12cerebroside4410.4ARSH, STS
13Dehydroepiandrosterone24 1111.3STS, SULT2A1
14nomegestrol acetate4410.3STS, ARSH
153-phosphoadenosine 5-phosphosulfate4410.3STS, SULT2A1
16calcipotriol44 61 28 1113.3TGM1, FLG
17tibolone4410.3ARSH, STS
18hydroxysteroid4410.3SULT2A1, STS
19danazol44 24 1112.3ARSH, STS
20letrozole44 50 61 1113.2CGA, STS
21estrone sulfate44 2411.2ARSH, STS
22cholesterol-sulfate44 1111.2STS, TGM1, SULT2A1
23pregnenolone sulfate4410.2SULT2A1, ARSH, STS
24steroidal4410.1STS, ARSH
25dydrogesterone44 28 1112.1ARSH, STS, CGA
26dhea4410.1ARSH, SULT2A1, STS
27phenol44 2411.1STS, SULT2A1
283beta-hydroxysteroid4410.1SULT2A1, STS, CGA
29estrone44 28 24 1113.1SULT2A1, ARSH, STS
30sulfate44 2411.1STS, ARSH, SULT2A1
31progestin4410.0STS, CGA, ARSH
32epoxide4410.0STS, ARSH
33dihydrotestosterone44 28 24 1113.0CGA, STS, ARSH
34gnrh449.8KAL1, CGA, ARSH
3517beta-hydroxysteroid449.8STS, ARSH, SULT2A1, CGA
36dehydroepiandrosterone sulfate449.8ARSH, CGA, STS, SULT2A1
37histidine449.8STS, FLG, ARSH
38tamoxifen44 50 28 1112.8STS, SULT2A1, ARSH, CGA
39estradiol44 24 1111.7ARSH, SULT2A1, STS, CGA
40progestins449.7STS, ARSH
41vitamin d449.6CGA, SULT2A1, TGM1
42testosterone44 61 24 1112.6STS, SULT2A1, CGA, ARSH
43progesterone44 28 61 24 1113.5STS, ARSH, TGM1, SULT2A1, CGA
44lipid449.4ARSH, STS, FLG, SULT2A1, TGM1
45arginine449.3TGM1, FLG, CGA, ARSH
46steroid449.0KAL1, SULT2A1, CGA, STS, FLG, ARSH

GO Terms for genes affiliated with X-Linked Ichthyosis

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet