MCID: ECT076
MIFTS: 29

Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency malady

Genetic diseases, Rare diseases, Immune diseases categories

Aliases & Classifications for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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Aliases & Descriptions for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency:

Name: Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 49 11 45 23 65
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency 45 22 23 24
Hed-Id 45 23 67
Anhidrotic Ectodermal Dysplasia with Immune Deficiency 45 23
Eda-Id 23 67
Hyper-Igm Immunodeficiency X-Linked with Ectodermal Dysplasia Hypohidrotic 67
Hyper-Igm Immunodeficiency with Hypohidrotic Ectodermal Dysplasia 23
 
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency X-Linked 67
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 67
Ectodermal Dysplasia Anhidrotic with Immune Deficiency 67
Nemo Deficiency 67
Xhm-Ed 67
Edaid 67


Classifications:



External Ids:

OMIM49 300291
MeSH36 D004476

Summaries for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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Genetics Home Reference:23 Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. The signs and symptoms of EDA-ID are evident soon after birth.

MalaCards based summary: Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency, also known as hypohidrotic ectodermal dysplasia with immune deficiency, is related to hypohidrotic ectodermal dysplasia with immunodeficiency and ectodermal dysplasia, and has symptoms including ectodermal dysplasia, x-linked recessive inheritance and recurrent infections. An important gene associated with Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency is IKBKG (Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Gamma). Affiliated tissues include skin.

OMIM:49 Hypohidrotic ectodermal dysplasia (HED; 305100), a congenital disorder of teeth, hair, and eccrine sweat glands, is... (300291) more...

UniProtKB/Swiss-Prot:67 Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by absence of sweat glands, sparse scalp hair, rare conical teeth and immunological abnormalities resulting in severe infectious diseases.

Related Diseases for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1hypohidrotic ectodermal dysplasia with immunodeficiency10.5
2ectodermal dysplasia10.4
3immunodeficiency 3310.3
4x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency10.3
5ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency10.2
6ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency10.2
7osteopetrosis10.2
8incontinentia pigmenti10.1

Graphical network of diseases related to Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency:



Diseases related to ectodermal dysplasia, hypohidrotic, with immune deficiency

Symptoms for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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Clinical features from OMIM:

300291

HPO human phenotypes related to Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency:

id Description Frequency HPO Source Accession
1 ectodermal dysplasia HP:0000968
2 x-linked recessive inheritance HP:0001419
3 recurrent infections HP:0002719
4 immunodeficiency HP:0002721
5 dysgammaglobulinemia HP:0002961

Drugs & Therapeutics for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

Genetic Tests for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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Genetic tests related to Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency:

id Genetic test Affiliating Genes
1 Hypohidrotic Ectodermal Dysplasia with Immune Deficiency22 24 IKBKG

Anatomical Context for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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MalaCards organs/tissues related to Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency:

33
Skin

Animal Models for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency or affiliated genes

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Publications for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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Variations for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency:

67
id Symbol AA change Variation ID SNP ID
1IKBKGp.Arg175ProVAR_011320rs179363868
2IKBKGp.Leu227ProVAR_011321rs179363869
3IKBKGp.Ala288GlyVAR_011322
4IKBKGp.Asp311AsnVAR_011323rs179363867
5IKBKGp.Asp406ValVAR_011324
6IKBKGp.Cys417PheVAR_011325rs137853326
7IKBKGp.Cys417ArgVAR_011326
8IKBKGp.Leu153ArgVAR_026495

Clinvar genetic disease variations for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1IKBKGNM_003639.4(IKBKG): c.1171G> T (p.Glu391Ter)single nucleotide variantPathogenicrs137853324GRCh37Chr X, 153792587: 153792587
2IKBKGNM_003639.4(IKBKG): c.1249T> C (p.Cys417Arg)single nucleotide variantPathogenicrs137853325GRCh37Chr X, 153792665: 153792665
3IKBKGIKBKG, 1-BP DUP, 1167CduplicationPathogenic
4IKBKGNM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe)single nucleotide variantPathogenicrs137853326GRCh37Chr X, 153792666: 153792666
5IKBKGNM_003639.4(IKBKG): c.1217A> T (p.Asp406Val)single nucleotide variantPathogenicrs137853327GRCh37Chr X, 153792633: 153792633
6IKBKGIKBKG, 4.4-KB DUPduplicationPathogenic
7IKBKGNM_003639.4(IKBKG): c.458T> G (p.Leu153Arg)single nucleotide variantPathogenicrs137853328GRCh37Chr X, 153786805: 153786805
8IKBKGNM_003639.4(IKBKG): c.1207C> T (p.Gln403Ter)single nucleotide variantPathogenicrs137853329GRCh37Chr X, 153792623: 153792623
9IKBKGIKBKG, IVS6DS, G-A, +5single nucleotide variantPathogenic
10IKBKGIKBKG, 1-BP INS, 1409AinsertionPathogenic
11IKBKGNM_003639.4(IKBKG): c.265_267delGAG (p.Glu89del)deletionLikely pathogenicrs386134238GRCh37Chr X, 153784457: 153784459
12IKBKGNM_003639.4(IKBKG): c.470A> C (p.Gln157Pro)single nucleotide variantLikely pathogenicrs386134240GRCh37Chr X, 153786817: 153786817

Expression for genes affiliated with Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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Search GEO for disease gene expression data for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency.

Pathways for genes affiliated with Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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GO Terms for genes affiliated with Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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Sources for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet