MCID: ECT076
MIFTS: 26

Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency malady

Genetic diseases, Rare diseases, Immune diseases categories

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 ectodermal dysplasia and osteopetrosis, 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:47 Hypohidrotic ectodermal dysplasia (HED; 305100), a congenital disorder of teeth, hair, and eccrine sweat glands, is... (300291) more...

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

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

Name: Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 47 11 43 23
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency 43 22 23 24
Anhidrotic Ectodermal Dysplasia with Immune Deficiency 43 23
 
Hed-Id 43 23
Hyper-Igm Immunodeficiency with Hypohidrotic Ectodermal Dysplasia 23
Eda-Id 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases


External Ids:

OMIM47 300291

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia10.4
2osteopetrosis10.3
3hypohidrotic ectodermal dysplasia with immunodeficiency10.3
4ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency10.2

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 dysgammaglobulinemia HP:0002961

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

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Drug clinical trials:

Search ClinicalTrials for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

Search 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:

64
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:

7 (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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Compounds 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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Products for genes affiliated with Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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  • Antibodies
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Sources for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet