MCID: HDR007
MIFTS: 16

Hidrotic Ectodermal Dysplasia 2

Aliases & Classifications for Hidrotic Ectodermal Dysplasia 2

MalaCards integrated aliases for Hidrotic Ectodermal Dysplasia 2:

Name: Hidrotic Ectodermal Dysplasia 2 24
Clouston Hidrotic Ectodermal Dysplasia 24
Hidrotic Ectodermal Dysplasia 72
Clouston Syndrome 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance is high [hayflick et al 1996], likely 100% [author, personal observation].

External Ids:

UMLS 72 C0162361

Summaries for Hidrotic Ectodermal Dysplasia 2

MalaCards based summary : Hidrotic Ectodermal Dysplasia 2, also known as clouston hidrotic ectodermal dysplasia, is related to clouston syndrome and 48,xyyy, and has symptoms including photophobia An important gene associated with Hidrotic Ectodermal Dysplasia 2 is GJB6 (Gap Junction Protein Beta 6). Affiliated tissues include skin, heart and endothelial.

GeneReviews: NBK1200

Related Diseases for Hidrotic Ectodermal Dysplasia 2

Diseases related to Hidrotic Ectodermal Dysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 clouston syndrome 11.9
2 48,xyyy 10.4
3 hypotrichosis 10.4
4 ectodermal dysplasia 10.4
5 dowling-degos disease 1 10.2
6 keratosis 10.2
7 palmoplantar keratosis 10.2
8 alopecia 10.2
9 posttransplant acute limbic encephalitis 10.2
10 hyperpigmentation of the skin 10.2
11 keratitis, hereditary 10.2
12 branchiootic syndrome 1 10.2
13 ichthyosis 10.2
14 kid syndrome 10.2
15 erythrokeratoderma 10.2
16 sensorineural hearing loss 10.1
17 skin disease 10.1
18 erythrokeratoderma ''en cocardes'' 10.1
19 acanthosis nigricans 10.0
20 ainhum 10.0
21 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.0
22 pachyonychia congenita 1 10.0
23 split-hand/foot malformation 1 10.0
24 teeth present at birth 10.0
25 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.0
26 ectodermal dysplasia with natal teeth, turnpenny type 10.0
27 nail disorder, nonsyndromic congenital, 9 10.0
28 nail disorder, nonsyndromic congenital, 10 10.0
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
30 tooth agenesis 10.0
31 hyperostosis 10.0
32 acral lentiginous melanoma 10.0
33 nonsyndromic hearing loss and deafness, dfna3 10.0
34 nonsyndromic hearing loss and deafness, dfnb1 10.0
35 patel bixler syndrome 10.0
36 isolated split hand-split foot malformation 10.0
37 rare genetic skin disease 10.0

Graphical network of the top 20 diseases related to Hidrotic Ectodermal Dysplasia 2:



Diseases related to Hidrotic Ectodermal Dysplasia 2

Symptoms & Phenotypes for Hidrotic Ectodermal Dysplasia 2

UMLS symptoms related to Hidrotic Ectodermal Dysplasia 2:


photophobia

Drugs & Therapeutics for Hidrotic Ectodermal Dysplasia 2

Search Clinical Trials , NIH Clinical Center for Hidrotic Ectodermal Dysplasia 2

Genetic Tests for Hidrotic Ectodermal Dysplasia 2

Anatomical Context for Hidrotic Ectodermal Dysplasia 2

MalaCards organs/tissues related to Hidrotic Ectodermal Dysplasia 2:

41
Skin, Heart, Endothelial

Publications for Hidrotic Ectodermal Dysplasia 2

Articles related to Hidrotic Ectodermal Dysplasia 2:

(show top 50) (show all 108)
# Title Authors PMID Year
1
G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family. 38 4
20536673 2010
2
Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin. 38 4
19200200 2009
3
A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis. 38 4
18717672 2008
4
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. 38 4
15140211 2004
5
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. 38 4
12788524 2003
6
A novel connexin 30 mutation in Clouston syndrome. 38 4
11874494 2002
7
Mutations in GJB6 cause hidrotic ectodermal dysplasia. 38 4
11017065 2000
8
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. 38 4
10854098 2000
9
A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q. 38 4
10036193 1999
10
Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations. 38 4
9665391 1998
11
New form of hidrotic ectodermal dysplasia in a Lebanese family. 38 4
9450885 1998
12
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. 38 4
9215774 1997
13
Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17. 38 4
8752831 1996
14
The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. 38 4
8845850 1996
15
Clouston syndrome associated with eccrine syringofibroadenoma. 4
24937830 2014
16
GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63. 4
23219093 2013
17
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. 4
17259707 2007
18
A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. 4
16525032 2006
19
A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1. 4
15675952 2005
20
Gap junction diseases of the skin. 4
15468169 2004
21
A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. 4
15245427 2004
22
Clouston syndrome can mimic pachyonychia congenita. 4
14708603 2003
23
Towards a new classification of ectodermal dysplasias. 4
12823289 2003
24
Functional studies of human skin disease- and deafness-associated connexin 30 mutations. 4
12419304 2002
25
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. 4
10471490 1999
26
Trafficking pathways leading to the formation of gap junctions. 4
10207897 1999
27
Connexin 26 gene linked to a dominant deafness. 4
9620796 1998
28
Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype. 38
30983611 2019
29
GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family. 38
30620052 2019
30
Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis. 38
30043857 2018
31
Impacted Lower Second Permanent Molars at the Ramus and Coronoid Process: A New Clinical Symptom of the WNT10A Mutation in Ectodermal Dysplasia. 38
29403230 2017
32
Ellis-van Creveld with an Unusual Dental Anomaly: A Case Report. 38
29234185 2017
33
Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts. 38
28871934 2017
34
Do you know this syndrome? Clouston syndrome. 38
29186264 2017
35
[A gene study of a family with hidrotic ectodermal dysplasia]. 38
27817781 2016
36
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 38
27137747 2016
37
Novel mutations in GJB6 and GJB2 in Clouston syndrome. 38
25808784 2015
38
Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics. 38
25575739 2015
39
Conventional Complete Denture in Patients with Ectodermal Dysplasia. 38
26425372 2015
40
Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia. 38
23981984 2013
41
[Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia]. 38
23926005 2013
42
Familial ectodermal dysplasia: a peers' agony. 38
23880572 2013
43
Hypohidrotic and hidrotic ectodermal dysplasia: a report of two cases. 38
24010518 2013
44
Clouston syndrome: first case in Russia. 38
24052723 2012
45
Poromatosis in pregnancy: a case of 8 eruptive poromas in the third trimester. 38
22474731 2012
46
Ellis-van Creveld syndrome: report of two cases. 38
21210265 2011
47
Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generations. 38
17539905 2007
48
Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation. 38
17550568 2007
49
A patient with alopecia, nail dystrophy, palmoplantar hyperkeratosis, keratitis, hearing difficulty and micrognathia without GJB2 or GJB6 mutations: a new type of hidrotic ectodermal dysplasia? 38
17298485 2007
50
[Mutation screening and prenatal diagnosis of hidrotic ectodermal dysplasia in a Chinese family]. 38
17160938 2006

Variations for Hidrotic Ectodermal Dysplasia 2

Expression for Hidrotic Ectodermal Dysplasia 2

Search GEO for disease gene expression data for Hidrotic Ectodermal Dysplasia 2.

Pathways for Hidrotic Ectodermal Dysplasia 2

GO Terms for Hidrotic Ectodermal Dysplasia 2

Sources for Hidrotic Ectodermal Dysplasia 2

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