MCID: ECT114
MIFTS: 18

Ectodermal Dysplasia 10b

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ectodermal Dysplasia 10b

MalaCards integrated aliases for Ectodermal Dysplasia 10b:

Name: Ectodermal Dysplasia 10b 12 15
Ectodermal Dysplasia 10b, Hypohidrotic/hair/nail Type, Autosomal Recessive 12
Ectd10b 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111665

Summaries for Ectodermal Dysplasia 10b

Disease Ontology : 12 A hypohidrotic ectodermal dysplasia that has material basis in homozygous or compound heterozygous mutation in EDAR on chromosome 2q13.

MalaCards based summary : Ectodermal Dysplasia 10b, also known as ectodermal dysplasia 10b, hypohidrotic/hair/nail type, autosomal recessive, is related to ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive and clouston syndrome. An important gene associated with Ectodermal Dysplasia 10b is EDAR (Ectodysplasin A Receptor), and among its related pathways/superpathways are Cytokine Signaling in Immune system and TRAF Pathway.

Related Diseases for Ectodermal Dysplasia 10b

Graphical network of the top 20 diseases related to Ectodermal Dysplasia 10b:



Diseases related to Ectodermal Dysplasia 10b

Symptoms & Phenotypes for Ectodermal Dysplasia 10b

Drugs & Therapeutics for Ectodermal Dysplasia 10b

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 10b

Genetic Tests for Ectodermal Dysplasia 10b

Anatomical Context for Ectodermal Dysplasia 10b

Publications for Ectodermal Dysplasia 10b

Variations for Ectodermal Dysplasia 10b

Expression for Ectodermal Dysplasia 10b

Search GEO for disease gene expression data for Ectodermal Dysplasia 10b.

Pathways for Ectodermal Dysplasia 10b

Pathways related to Ectodermal Dysplasia 10b according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 EDARADD EDAR EDA2R EDA
2
Show member pathways
11.86 EDAR EDA2R EDA
3 11.48 EDA2R EDA
4 11.27 EDARADD EDAR EDA2R EDA
5
Show member pathways
10.84 EDARADD EDAR EDA2R EDA

GO Terms for Ectodermal Dysplasia 10b

Cellular components related to Ectodermal Dysplasia 10b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical part of cell GO:0045177 8.62 EDAR EDA

Biological processes related to Ectodermal Dysplasia 10b according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.67 EDARADD EDAR EDA2R EDA
2 multicellular organism development GO:0007275 9.65 PAX9 EDARADD EDAR EDA2R EDA
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.51 EDA2R EDA
4 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.5 EDAR EDA2R EDA
5 epidermis development GO:0008544 9.49 EDAR EDA2R
6 positive regulation of JNK cascade GO:0046330 9.48 EDAR EDA2R
7 odontogenesis of dentin-containing tooth GO:0042475 9.46 EDAR EDA
8 hair follicle development GO:0001942 9.43 EDAR EDA
9 pigmentation GO:0043473 9.4 EDAR EDA
10 salivary gland cavitation GO:0060662 9.16 EDAR EDA
11 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.13 EDARADD EDAR EDA
12 tumor necrosis factor-mediated signaling pathway GO:0033209 8.92 EDARADD EDAR EDA2R EDA

Sources for Ectodermal Dysplasia 10b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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