MCID: HYP253
MIFTS: 21

Hypohidrotic Ectodermal Dysplasia, Autosomal

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Hypohidrotic Ectodermal Dysplasia, Autosomal

MalaCards integrated aliases for Hypohidrotic Ectodermal Dysplasia, Autosomal:

Name: Hypohidrotic Ectodermal Dysplasia, Autosomal 24
Autosomal Hypohidrotic Ectodermal Dysplasia 29
Anhidrotic Ectodermal Dysplasia, Autosomal 24
Adaed 24
Adhed 24
Araed 24
Arhed 24

Classifications:



Summaries for Hypohidrotic Ectodermal Dysplasia, Autosomal

MalaCards based summary : Hypohidrotic Ectodermal Dysplasia, Autosomal, also known as autosomal hypohidrotic ectodermal dysplasia, is related to ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant and severe combined immunodeficiency due to ada deficiency. An important gene associated with Hypohidrotic Ectodermal Dysplasia, Autosomal is EDAR (Ectodysplasin A Receptor), and among its related pathways/superpathways is TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions. Related phenotype is pigmentation.

Related Diseases for Hypohidrotic Ectodermal Dysplasia, Autosomal

Diseases in the Hypohidrotic Ectodermal Dysplasia, Autosomal family:

Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

Diseases related to Hypohidrotic Ectodermal Dysplasia, Autosomal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
id Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 31.3 EDAR EDARADD
2 severe combined immunodeficiency due to ada deficiency 12.3
3 adenosine deaminase deficiency 12.2
4 hypohidrotic ectodermal dysplasia autosomal recessive 12.1
5 inappropriate adh syndrome 12.1
6 diabetes insipidus, nephrogenic 11.7
7 severe combined immunodeficiency 11.2
8 syndrome of inappropriate antidiuretic hormone 11.1
9 hypercholesterolemia, familial, autosomal recessive 11.0
10 diabetes insipidus, neurohypophyseal 11.0
11 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome 10.9
12 hypothalamic disease 10.8
13 severe combined immunodeficiency, b cell-negative 10.8
14 delayed-/late-onset adenosine deaminase deficiency 10.8
15 hypocalcemia, autosomal dominant 10.8
16 ectodermal dysplasia 10.2
17 tuberculosis 10.0
18 peritonitis 10.0
19 alcohol dependence 10.0
20 diabetes insipidus 9.9
21 pleurisy 9.9
22 tuberculous peritonitis 9.9
23 pulmonary tuberculosis 9.8
24 lung cancer 9.8
25 hyperglycemia 9.8
26 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 9.7 EDAR EDARADD
27 acne 9.7
28 hidradenitis suppurativa 9.7
29 hidradenitis 9.7
30 neuronitis 9.7
31 rosacea 9.7
32 homozygous familial hypercholesterolemia 9.7
33 ikzf1-related common variable immune deficiency 9.7 EDAR EDARADD
34 esophageal cancer 9.7
35 pancreatic cancer 9.7
36 esophagitis 9.7
37 brain cancer 9.7
38 pancreatitis 9.7
39 pneumonia 9.7
40 hypoparathyroidism-intellectual disability-dysmorphism syndrome 9.7 EDAR EDARADD
41 pleural tuberculosis 9.7
42 multiple chemical sensitivity 9.7
43 leishmaniasis 9.7
44 visceral leishmaniasis 9.7
45 meningitis 9.7
46 severe combined immune deficiency 9.7
47 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 9.7 EDAR EDARADD
48 neonatal respiratory failure 9.6 EDAR EDARADD
49 scleroperikeratitis 9.6 EDAR EDARADD
50 schizophrenia 9.6

Graphical network of the top 20 diseases related to Hypohidrotic Ectodermal Dysplasia, Autosomal:



Diseases related to Hypohidrotic Ectodermal Dysplasia, Autosomal

Symptoms & Phenotypes for Hypohidrotic Ectodermal Dysplasia, Autosomal

MGI Mouse Phenotypes related to Hypohidrotic Ectodermal Dysplasia, Autosomal:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 EDAR EDARADD

Drugs & Therapeutics for Hypohidrotic Ectodermal Dysplasia, Autosomal

Search Clinical Trials , NIH Clinical Center for Hypohidrotic Ectodermal Dysplasia, Autosomal

Genetic Tests for Hypohidrotic Ectodermal Dysplasia, Autosomal

Genetic tests related to Hypohidrotic Ectodermal Dysplasia, Autosomal:

id Genetic test Affiliating Genes
1 Autosomal Hypohidrotic Ectodermal Dysplasia 29
2 Hypohidrotic Ectodermal Dysplasia, Autosomal 24 EDARADD EDAR

Anatomical Context for Hypohidrotic Ectodermal Dysplasia, Autosomal

Publications for Hypohidrotic Ectodermal Dysplasia, Autosomal

Variations for Hypohidrotic Ectodermal Dysplasia, Autosomal

Expression for Hypohidrotic Ectodermal Dysplasia, Autosomal

Search GEO for disease gene expression data for Hypohidrotic Ectodermal Dysplasia, Autosomal.

Pathways for Hypohidrotic Ectodermal Dysplasia, Autosomal

Pathways related to Hypohidrotic Ectodermal Dysplasia, Autosomal according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.55 EDAR EDARADD

GO Terms for Hypohidrotic Ectodermal Dysplasia, Autosomal

Biological processes related to Hypohidrotic Ectodermal Dysplasia, Autosomal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 8.96 EDAR EDARADD
2 tumor necrosis factor-mediated signaling pathway GO:0033209 8.62 EDAR EDARADD

Sources for Hypohidrotic Ectodermal Dysplasia, Autosomal

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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