HED2
MCID: CLS005
MIFTS: 53

Clouston Syndrome (HED2) malady

Skin diseases, Fetal diseases categories

Summaries for Clouston Syndrome

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Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected.

MalaCards: Clouston Syndrome, also known as hidrotic ectodermal dysplasia, is related to hidrotic ectodermal dysplasia 2 and hypohidrotic ectodermal dysplasia, and has symptoms including chronic skin infection/ulcerations/ulcers/cancrum, hypotrichosis/atrichia/atrichiasis/scalp hairlessness and fine hair. 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. Affiliated tissues include skin, and related mouse phenotypes are hearing/vestibular/ear and reproductive system.

Wikipedia:63 Clouston\'s hidrotic ectodermal dysplasia (also known as \"Alopecia congenita with keratosis... more...

Description from OMIM:46 129500

Aliases & Classifications for Clouston Syndrome

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Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 60UMLS, 46OMIM, 34MeSH, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

48
clouston syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

clouston syndrome 8 21 10 48
hidrotic ectodermal dysplasia 8 48 60
ectodermal dysplasia 2, clouston type 21 46
clouston's syndrome 8 21
clouston's hidrotic ectodermal dysplasia 8
clouston hidrotic ectodermal dysplasia 21
hidrotic ectodermal dysplasia syndrome 8
hidrotic ectodermal dysplasia 2 21
ectd2 21
hed2 21


External Ids:

Disease Ontology8 DOID:14693
OMIM46 129500
MeSH34 D004476
SNOMED-CT56 54209007
ICD10 via Orphanet26 Q82.8
SNOMED-CT via Orphanet57 54209007
UMLS via Orphanet61 C0162361

Related Diseases for Clouston Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Clouston Syndrome:



Diseases related to clouston syndrome

Clinical Features for Clouston Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

129500

Clinical synopsis from OMIM:

129500

Symptoms:

48 (show all 26)
  • chronic skin infection/ulcerations/ulcers/cancrum
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • fine hair
  • short stature/dwarfism/nanism
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • strabismus/squint
  • defect/anomaly of lacrimal system
  • syndactyly of fingers/interdigital palm
  • upper limb polydactyly/hexadactyly
  • terminal broadening/clubbing of toes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • palmoplantar hyperkeratosis/keratoderma
  • anomalies of eyelids, eyelashes and lacrimal system
  • absent/decreased/thin eyebrows
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • irregular/in bands/reticular skin hyperpigmentation
  • decreased body hair/axillar/pubic hairlessness
  • alopecia
  • thin/hypoplastic/hyperconvex fingernails
  • dysplastic/thick/grooved fingernails
  • abnormal nails colour/leukonychia/melanonychia
  • onycholysis
  • autosomal dominant inheritance
  • cataract/lens opacification
  • photophobia
  • hairy patch

Drugs & Therapeutics for Clouston Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Clouston Syndrome

Drug clinical trials:

Search ClinicalTrials for Clouston Syndrome

Search NIH Clinical Center for Clouston Syndrome

Search CenterWatch for Clouston Syndrome

Genetic Tests for Clouston Syndrome

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Anatomical Context for Clouston Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Clouston Syndrome:

32
Skin

Animal Models for Clouston Syndrome or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Clouston Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9EDARADD, FGF9, GJB6, GJB2
2MP:00053898.0TP63, EVC, GJB2, FGF9, EDARADD
3MP:00107717.8EDAR, EDARADD, FGF9, GJB3, GJB2, TP63
4MP:00053907.5FGF9, GJB2, EVC2, EVC, TP63
5MP:00053717.1TP63, EDAR, EDARADD, FGF9, GJB2, EVC2
6MP:00053827.0EDAR, EDARADD, FGF9, GJB2, EVC2, EVC
7MP:00107686.6EDAR, EDARADD, FGF9, GJB3, GJB2, EVC2

Publications for Clouston Syndrome

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Sources:
50PubMed
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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

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Clouston Syndrome:

62
id Symbol AA change Variation ID SNP ID
1GJB6p.Gly11ArgVAR_015696
2GJB6p.Ala88ValVAR_015697rs28937872
3GJB6p.Val37GluVAR_016838

Expression for genes affiliated with Clouston Syndrome

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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

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Sources:
53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN, 29KEGG
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Compounds for genes affiliated with Clouston Syndrome

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Sources:
59Tocris Bioscience, 28IUPHAR, 24HMDB, 44Novoseek, 11DrugBank, 2BitterDB
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Compounds related to Clouston Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx599.4GJB4, GJB6, GJB3, GJB2
2gap 27599.4GJB6, GJB3, GJB2, GJB4
3carbenoxolone disodium599.4GJB6, GJB3, GJB2, GJB4
4scrambled 10panx599.3GJB6, GJB3, GJB2, GJB4
5octanol28 2410.3GJB6, GJB3, GJB2, GJB4
6carbenoxolone28 44 1111.2GJB4, GJB2, GJB3, GJB6
7ca2+289.1GJB6, GJB3, GJB2, GJB4
8matrigel448.9TP63, GJB2, FGF9
9flufenamic acid44 28 2 1111.9GJB4, GJB2, GJB3, GJB6

GO Terms for genes affiliated with Clouston Syndrome

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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Clouston Syndrome

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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