HED2
MCID: CLS005
MIFTS: 50

Clouston Syndrome (HED2) malady

Genetic diseases, Skin diseases, Fetal diseases, Rare diseases categories
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Summaries for Clouston Syndrome

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Sources:
21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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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 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 Cell adhesion Gap junctions and Myometrial Relaxation and Contraction Pathways. The compounds scrambled 10panx and 10panx have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

Wikipedia:65 Clouston\'s hidrotic ectodermal dysplasia (also known as \"Alopecia congenita with keratosis... more...

Description from OMIM:47 129500

Aliases & Classifications for Clouston Syndrome

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Sources:
8Disease Ontology, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 58SNOMED-CT, 35MeSH, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
clouston syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

clouston syndrome 8 21 10 49
hidrotic ectodermal dysplasia 8 49 62
ectodermal dysplasia 2, clouston type 21 47
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
OMIM47 129500
MeSH35 D004476
SNOMED-CT58 54209007
ICD10 via Orphanet26 Q82.8
SNOMED-CT via Orphanet59 54209007
UMLS via Orphanet63 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

Symptoms for Clouston Syndrome

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

129500

Clinical features from OMIM:

129500

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Clouston Syndrome

Search NIH Clinical Center for Clouston Syndrome

Genetic Tests for Clouston Syndrome

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Anatomical Context for Clouston Syndrome

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Sources:
33MalaCards
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MalaCards organs/tissues related to Clouston Syndrome:

33
Skin

Animal Models for Clouston Syndrome or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Clouston Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.6GJB4, TP63
2MP:00053779.0GJB2, GJB6, EDARADD
3MP:00107718.0EDARADD, EDAR, TP63, GJB2, GJB3
4MP:00053767.8EDARADD, TP63, GJB6, GJB2, GJB3
5MP:00053717.7EVC2, GJB2, TP63, EDAR, EDARADD
6MP:00053827.6EDARADD, EDAR, TP63, GJB2, EVC2
7MP:00107687.1EDARADD, EDAR, TP63, GJB2, GJB3, EVC2

Publications for Clouston Syndrome

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Sources:
52PubMed
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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

Variations for Clouston Syndrome

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Clouston Syndrome:

64
id Symbol AA change Variation ID SNP ID
1GJB6p.Gly11ArgVAR_015696
2GJB6p.Ala88ValVAR_015697rs28937872
3GJB6p.Val37GluVAR_016838

Clinvar genetic disease variations for Clouston Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1GJB6NM_006783.4(GJB6): c.31G> A (p.Gly11Arg)single nucleotide variantPathogenicrs104894415GRCh37Chr 13, 20797589: 20797589
2GJB6NM_006783.4(GJB6): c.263C> T (p.Ala88Val)single nucleotide variantPathogenicrs28937872GRCh37Chr 13, 20797357: 20797357
3GJB6NM_006783.4(GJB6): c.110T> A (p.Val37Glu)single nucleotide variantPathogenicrs104894416GRCh37Chr 13, 20797510: 20797510

Expression for genes affiliated with Clouston Syndrome

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2BioGPS, 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:
50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 30KEGG
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Compounds for genes affiliated with Clouston Syndrome

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Sources:
61Tocris Bioscience, 29IUPHAR, 24HMDB, 45Novoseek, 3BitterDB, 11DrugBank
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Compounds related to Clouston Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1scrambled 10panx619.1GJB3, GJB4, GJB6, GJB2
210panx619.0GJB6, GJB2, GJB4, GJB3
3carbenoxolone disodium619.0GJB3, GJB4, GJB2, GJB6
4gap 27619.0GJB3, GJB4, GJB2, GJB6
5octanol29 249.9GJB3, GJB4, GJB2, GJB6
6flufenamic acid29 45 3 1111.9GJB3, GJB4, GJB6, GJB2
7carbenoxolone45 29 1110.8GJB6, GJB2, GJB4, GJB3
8ca2+298.6GJB4, GJB2, GJB6, GJB3

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
1connexon complexGO:0059228.6GJB3, GJB4, GJB2, GJB6
2integral component of membraneGO:0160217.5GJB6, GJB2, GJB4, GJB3, EVC2, EDAR

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

idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:0071549.4GJB6, GJB4, GJB3
2sensory perception of soundGO:0076059.2GJB3, GJB2, GJB6
3apoptotic processGO:0069159.1EDAR, TP63, GJB6
4hair follicle developmentGO:0019429.0EDARADD, EDAR
5odontogenesis of dentin-containing toothGO:0424758.8EDAR, TP63, EDARADD

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:0052439.6GJB3, GJB2

Products for genes affiliated with Clouston Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Clouston Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet