MCID: HDR007
MIFTS: 8

Hidrotic Ectodermal Dysplasia 2

Categories: Genetic diseases

Aliases & Classifications for Hidrotic Ectodermal Dysplasia 2

MalaCards integrated aliases for Hidrotic Ectodermal Dysplasia 2:

Name: Hidrotic Ectodermal Dysplasia 2 23 24
Clouston Hidrotic Ectodermal Dysplasia 23 24
Clouston Syndrome 23 24
Hidrotic Ectodermal Dysplasia 69

Characteristics:

GeneReviews:

23
Penetrance Penetrance is high [hayflick et al 1996], likely 100% [author, personal observation]...

Classifications:



Summaries for Hidrotic Ectodermal Dysplasia 2

MalaCards based summary : Hidrotic Ectodermal Dysplasia 2, also known as clouston hidrotic ectodermal dysplasia, is related to ectodermal dysplasia 2, clouston type and ectodermal dysplasia, and has symptoms including photophobia An important gene associated with Hidrotic Ectodermal Dysplasia 2 is GJB6 (Gap Junction Protein Beta 6).

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:

id Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 2, clouston type 11.1
2 ectodermal dysplasia 10.2

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

Genetic tests related to Hidrotic Ectodermal Dysplasia 2:

id Genetic test Affiliating Genes
1 Hidrotic Ectodermal Dysplasia 2 24 GJB6

Anatomical Context for Hidrotic Ectodermal Dysplasia 2

Publications for Hidrotic Ectodermal Dysplasia 2

Articles related to Hidrotic Ectodermal Dysplasia 2:

id Title Authors Year
1
A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis. ( 18717672 )
2008
2
Hidrotic Ectodermal Dysplasia 2 ( 20301379 )
1993

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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