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 24
Clouston Hidrotic Ectodermal Dysplasia 24
Hidrotic Ectodermal Dysplasia 73
Clouston Syndrome 24

Characteristics:

GeneReviews:

24
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 10.2

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

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
A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q. ( 10036193 )
1999
3
The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. ( 8845850 )
1996
4
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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