MCID: HDR007
MIFTS: 7

Hidrotic Ectodermal Dysplasia 2

Aliases & Classifications for Hidrotic Ectodermal Dysplasia 2

MalaCards integrated aliases for Hidrotic Ectodermal Dysplasia 2:

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

Characteristics:

GeneReviews:

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

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 ectodermal dysplasia, and has symptoms including photophobia

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:

# Related Disease Score Top Affiliating Genes
1 clouston syndrome 11.6
2 ectodermal dysplasia 10.3

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

Publications for Hidrotic Ectodermal Dysplasia 2

Articles related to Hidrotic Ectodermal Dysplasia 2:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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