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
Genetic analysis of a 12-year-old boy with X-linked ichthyosis in association with sclerosing glomerulonephritis. (23939749)
2013
2
Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene. (23807007)
2013
3
Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis. (24291327)
2013
4
Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis. (21530180)
2011
5
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
6
Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis. (20149601)
2010
7
HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase. (20722631)
2010
8
Burn injury and wound healing in X-linked ichthyosis. (20523225)
2010
9
Fluorescence in situ hybridization analysis is useful for the diagnosis of the carrier state of X-linked ichthyosis. (18412879)
2008
10
Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. (17657246)
2007
11
Topical tazarotene 0.05% versus glycolic acid 70% treatment in X-linked ichthyosis due to extensive deletion of the STS gene. (16191859)
2005
12
Mutations in X-linked ichthyosis disrupt the active site structure of estrone/DHEA sulfatase. (15607112)
2004
13
Frequency of X-linked ichthyosis in coastal southern Italy: a study on a representative sample of a young male population. (12920363)
2003
14
Poland's syndrome and recessive X-linked ichthyosis in two brothers. (10971493)
2000
15
Novel point mutations in the steroid sulfatase gene in patients with X-linked ichthyosis: transfection analysis using the mutated genes. (10844566)
2000
16
Male-pattern baldness in men with X-linked recessive ichthyosis. (10828635)
2000
17
Ichthyosis vulgaris and X-linked ichthyosis: simultaneous segregation in the same family. (10598781)
1999
18
X-linked ichthyosis in Mexico: high frequency of deletions in the steroid sulfatase encoding gene. (9375723)
1997
19
Accuracy of the clinical diagnosis of recessive X-linked ichthyosis vs ichthyosis vulgaris. (8916657)
1996
20
Hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis, and renal malformation syndrome. (7704955)
1995
21
Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis. (7726134)
1995
22
Correction of steroid sulfatase deficiency by gene transfer into basal cells of tissue-cultured epidermis from patients with recessive X-linked ichthyosis. (8262159)
1993
23
Biochemical and immunological characterization of X-linked ichthyosis. (8487498)
1993
24
Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation. (1355069)
1992
25
Two cases of X-linked ichthyosis associated with myopathies]. (2253421)
1990
26
X chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis). (3163320)
1988
27
Characterization of low-density lipoproteins from patients with recessive X-linked ichthyosis. (3162681)
1988
28
More on X-linked ichthyosis, steroid sulfatase deficiency, and hypogonadism and anosmia. (3422798)
1988
29
Ocular findings and skin histology in a group of patients with X-linked ichthyosis. (3166940)
1988
30
X-linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia. (3477126)
1987
31
Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency). (2884621)
1987
32
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
33
Interactions of cholesterol and cholesterol sulfate with free fatty acids: possible relevance for the pathogenesis of recessive X-linked ichthyosis. (3740936)
1986
34
Early diagnosis of recessive X-linked ichthyosis: elevation of cholesterol sulfate levels in placental sulfatase deficiency before the onset of skin symptoms. (4070088)
1985
35
Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency. (3860470)
1985
36
The effect of steroid sulphatase on stratum corneum shedding in patients with X-linked ichthyosis. (3868421)
1985
37
Detection of heterozygotes of X-linked ichthyosis by measuring steroid sulphatase activity of lymphocytes. Mode of inheritance in three families. (3868422)
1985
38
Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp223-pter. (3864397)
1985
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
Prenatal diagnosis of X-linked ichthyosis. (6461439)
1982
41
X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein. (6945674)
1981
42
Further evidence for the assignment of the steroid sulfatase X-linked ichthyosis locus to the telomer of Xp. (6948769)
1981
43
Sex ratio in families with X-linked ichthyosis. (7424916)
1980
44
X-linked ichthyosis. Five families in southern Kyushu. (6999054)
1980
45
Deficiency of arylsulfatase C in cultured skin fibroblasts of X-linked ichthyosis. (575348)
1979
46
Estimating sex ratio biases in X-linked disorders: is there an excess of males in families with X-linked ichthyosis? (517522)
1979
47
X-linked ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation in two siblings. (4250)
1976
48
Concurrent hypohidrotic ectodermal dysplasia and X-linked ichthyosis. (4544634)
1973
49
Linkage studies on X-linked ichthyosis in Sardinia. (5703691)
1968
50
X-linked ichthyosis and ichthyosis vulgaris. Clinical and genetic distinctions in a second series of families. (6072316)
1967

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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Sources:
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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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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Sources:
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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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