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
Detection of the deletion of the STS gene and flanking sequences using polymerase chain reaction in a Chinese pedigree: the first case report of X-linked ichthyosis associated with testicular microlithiasis. (24126298)
2013
2
Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency-x-linked recessive ichthyosis: a case report and review of literature. (22419362)
2012
3
X-linked ichthyosis: an oculocutaneous genodermatosis. (20080321)
2010
4
X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. (18413370)
2008
5
Analysis 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)
2008
6
Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis. (17468528)
2007
7
Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis). (16536827)
2006
8
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
9
Prenatal diagnosis for placental steroid salfatase deficiency with fluorescence in situ hybridization: a case of X-linked ichthyosis. (14641695)
2003
10
Deletion of exons 1-5 of the STS gene causing X-linked ichthyosis. (11231321)
2001
11
Molecular analysis of X-linked ichthyosis in Japan. (11910205)
2001
12
X-linked ichthyosis associated with congenital dislocation of the hip. (11554998)
2001
13
Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population. (11844872)
2001
14
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
15
An atypical contiguous gene syndrome: molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis. (10396356)
1999
16
Most "sporadic" cases of X-linked ichthyosis are not de novo mutations. (10228635)
1999
17
X-linked ichthyosis: relation between cholesterol sulphate, dehydroepiandrosterone sulphate and patient's age. (9640374)
1998
18
Deletion pattern of the steroid sulphatase gene in Japanese patients with X-linked ichthyosis. (9764155)
1998
19
Clinicopathologic study of the cornea in X-linked ichthyosis. (9076217)
1997
20
Heterogeneity of X-linked ichthyosis. (9332673)
1997
21
A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction. (8615047)
1995
22
X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies. (8588575)
1995
23
Inguinal hernia in recessive X-linked ichthyosis. (7868777)
1994
24
Tinea corporis due to Trichophyton verrucosum in recessive, X-linked ichthyosis. (8015564)
1993
25
X-linked ichthyosis. (8230579)
1993
26
Deletion 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)
1991
27
Detection of carriers for X-linked ichthyosis by Southern blot analysis and identification of one family with a de novo mutation. (2366000)
1990
28
A family with X-linked ichthyosis and hypogonadism. (2493379)
1989
29
Diagnosis of recessive X-linked ichthyosis: quantitative HPLC/mass spectrometric analysis of plasma for cholesterol sulfate. (2776315)
1989
30
X/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)
1988
31
Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency). (3169744)
1988
32
Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome. (3480263)
1987
33
Substrate specific sulfatase activity from hair follicles in recessive X-linked ichthyosis. (2448986)
1987
34
Corneal changes in X-linked ichthyosis. (3872899)
1985
35
Absence of testicular steroid sulphatase activity in a boy with recessive X-linked ichthyosis and testicular maldescent. (2865141)
1985
36
Steroid sulphatase deficiency in patients initially diagnosed as ichthyosis vulgaris or recessive X-linked ichthyosis. (3857937)
1985
37
Current clinical problems in placental steroid or aryl sulphatase C deficiency and the related 'cervical dystocia' and X-linked ichthyosis. (6820435)
1982
38
Cryptorchidism and hypogenitalism in X-linked recessive ichthyosis vulgaris. (6122644)
1982
39
Rapid laboratory diagnostic of X-linked ichthyosis. (6953038)
1982
40
Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis. (6939689)
1981
41
X-linked ichthyosis. Ultrastructural study of 4 cases. (7195832)
1981
42
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. (6930361)
1980
43
X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations. (6929654)
1980
44
Steroid sulfatase deficiency and X-linked ichthyosis. (294955)
1979
45
Enzymatic basis of typical X-linked ichthyosis. (82112)
1978
46
X-linked ichthyosis due to steroid-sulphatase deficiency. (74568)
1978
47
X-linked ichthyosis. (889699)
1977
48
Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis. (4117150)
1972
49
Histology of autosomal dominant ichthyosis vulgaris and X-linked ichthyosis. (5444074)
1970
50
X-linked ichthyosis: linkage relationship with the Xg blood groups and other studies in a large Dutch kindred. (5307231)
1969

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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  • Antibodies
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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