MCID: CLS005
MIFTS: 36

Clouston Syndrome malady

Summaries for Clouston Syndrome

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Clouston\'s hidrotic ectodermal dysplasia (also known as \"Alopecia congenita with keratosis... more...

MalaCards: Clouston Syndrome, also known as hidrotic ectodermal dysplasia, is related to ectodermal dysplasia and hidrotic ectodermal dysplasia 2. An important gene associated with Clouston Syndrome is GJB6 (gap junction protein, beta 6, 30kDa), and among its related pathways are Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane and Cell adhesion Gap junctions. The compounds 10panx and gap 27 have been mentioned in the context of this disorder. Related mouse phenotypes are hearing/vestibular/ear and reproductive system.

Description from OMIM:47 129500

Aliases & Classifications for Clouston Syndrome

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 47OMIM, 35MeSH, 57SNOMED-CT
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Aliases & Descriptions:

clouston syndrome 8 10
hidrotic ectodermal dysplasia 8 61
clouston's hidrotic ectodermal dysplasia 8
hidrotic ectodermal dysplasia syndrome 8
clouston's syndrome 8


External Ids:

Disease Ontology8 DOID:14693
OMIM47 129500
SNOMED-CT57 54209007
MeSH35 D004476

Related Diseases for Clouston Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Clouston Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia30.8TP63, EDAR, GJB2, EVC2
2hidrotic ectodermal dysplasia 230.5TUBA3C, GJB6, GJB2
3hypohidrotic ectodermal dysplasia30.4EDAR, EDARADD
4sensorineural hearing loss30.1GJB2, GJB3, GJB6
5ectodermal dysplasia, hidrotic, christianson-fourie type10.4
6halal setton wang syndrome10.4
7pili torti10.3
8congenital ectodermal dysplasia with hearing loss10.3
9pili torti onychodysplasia10.3
10alopecia congenita keratosis palmoplantaris10.2
11ectodermal dysplasia 2, clouston type10.2
12ainhum10.1
13pachyonychia congenita10.1
14conn's syndrome10.1
15alopecia10.1
16keratoderma10.0GJB2
17keratosis10.0GJB2
18palmoplantar keratosis10.0GJB6
19dfnb110.0GJB6, GJB2
20skin disease10.0GJB3, GJB4
21bart-pumphrey syndrome10.0GJB6, GJB2
22dfnb 1 nonsyndromic hearing loss and deafness10.0GJB6, GJB2
23dfna 3 nonsyndromic hearing loss and deafness10.0GJB6, GJB2
24erythrokeratodermia variabilis10.0GJB3, GJB4
25hodgkin's lymphoma, nodular sclerosis10.0GJB6, GJB3
26usher syndrome10.0GJB2
27nonepidermolytic palmoplantar keratoderma10.0GJB3, GJB2
28tooth agenesis10.0EDARADD
29enlarged vestibular aqueduct10.0GJB2, GJB3, GJB6
30nonsyndromic deafness10.0GJB2, GJB3, GJB6
31hypohidrosis10.0EDAR, EDARADD
32polydactyly10.0EVC2, EVC
33sensenbrenner syndrome10.0EVC, EVC2
34ellis-van creveld syndrome10.0EVC, EVC2
35dysostosis10.0EVC, EVC2
36congenital heart defect10.0EVC, EVC2

Graphical network of the top 20 diseases related to Clouston Syndrome:



Diseases related to clouston syndrome

Clinical Features for Clouston Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

129500

Drugs & Therapeutics for Clouston Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Clouston Syndrome

Genetic Tests for Clouston Syndrome

Anatomical Context for Clouston Syndrome

Animal Models for Clouston Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Clouston Syndrome

Sources:
51PubMed
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Articles related to Clouston Syndrome:

(show all 20)
idTitleAuthorsYear
1
Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. (23863883)
2013
2
GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63. (23219093)
2013
3
Clouston syndrome: first case in Russia. (24052723)
2012
4
Clouston syndrome and eccrine syringofibroadenomas. (19318801)
2009
5
A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis. (18717672)
2008
6
Clouston syndrome associated with severe congenital pseudo-ainhum. (17542906)
2007
7
A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. (15245427)
2004
8
Clouston syndrome can mimic pachyonychia congenita. (14708603)
2003
9
Metastatic melanoma in a patient with Clouston syndrome successfully treated with isolated hyperthermic limb perfusion. (12362262)
2003
10
A novel connexin 30 mutation in Clouston syndrome. (11874494)
2002
11
What syndrome is this? Hidrotic ectodermal dysplasia (Clouston syndrome). (10720992)
2000
12
Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family. (10730756)
2000
13
A 1.5-Mb physical map of the hidrotic ectodermal dysplasia (Clouston syndrome) gene region on human chromosome 13q11. (10903849)
2000
14
Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations. (9665391)
1998
15
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. (9215774)
1997
16
Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17. (8752831)
1996
17
Clouston syndrome: an ectodermal dysplasia without significant dental findings. (8741874)
1996
18
A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome? (8574423)
1995
19
Clouston syndrome: a rare autosomal dominant trait with palmoplantar hyperkeratosis and alopecia. (1837030)
1991
20
Clouston syndrome: an ultrastructural study. (6616952)
1983

Genetic Variations for Clouston Syndrome

Expression for genes affiliated with Clouston Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Clouston Syndrome

Search GEO for disease gene expression data for Clouston Syndrome.

Pathways for genes affiliated with Clouston Syndrome

Sources:
54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN, 30KEGG
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Compounds for genes affiliated with Clouston Syndrome

Sources:
60Tocris Bioscience, 29IUPHAR, 24HMDB, 45Novoseek, 11DrugBank, 2BitterDB
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Compounds related to Clouston Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx609.4GJB4, GJB6, GJB3, GJB2
2gap 27609.4GJB6, GJB3, GJB2, GJB4
3carbenoxolone disodium609.4GJB6, GJB3, GJB2, GJB4
4scrambled 10panx609.3GJB6, GJB3, GJB2, GJB4
5octanol29 2410.3GJB6, GJB3, GJB2, GJB4
6carbenoxolone29 45 1111.2GJB4, GJB2, GJB3, GJB6
7ca2+299.1GJB6, GJB3, GJB2, GJB4
8matrigel458.9TP63, GJB2, FGF9
9flufenamic acid45 29 2 1111.9GJB4, GJB2, GJB3, GJB6

GO Terms for genes affiliated with Clouston Syndrome

Sources:
16Gene Ontology
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Cellular components related to Clouston Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junctionGO:0059219.9GJB3, GJB4
2microtubule basal bodyGO:0059329.3EVC, EVC2
3connexon complexGO:0059229.3GJB4, GJB2, GJB3, GJB6
4cilium membraneGO:0601709.2EVC, EVC2
5integral to membraneGO:0160217.4EDAR, GJB6, GJB3, GJB2, GJB4, EVC2

Biological processes related to Clouston Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:0071549.7GJB6, GJB3, GJB4
2sensory perception of soundGO:0076059.7GJB2, GJB3, GJB6
3positive regulation of smoothened signaling pathwayGO:0458809.6FGF9, EVC
4hair follicle developmentGO:0019429.5EDARADD, EDAR
5smoothened signaling pathwayGO:0072249.3EVC, EVC2
6positive regulation of mesenchymal cell proliferationGO:0020539.3TP63, FGF9
7embryonic limb morphogenesisGO:0303269.0TP63, FGF9
8odontogenesis of dentin-containing toothGO:0424759.0TP63, EDARADD, EDAR

Molecular functions related to Clouston Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:0052439.5GJB4, GJB2, GJB3

Products for genes affiliated with Clouston Syndrome

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Sources for Clouston Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet