MCID: ECT076
MIFTS: 25

Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency malady

Categories: Genetic diseases, Rare diseases, Immune diseases

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 51 47 25 12 67
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency 47 24 25 26
Hed-Id 47 25 69
Anhidrotic Ectodermal Dysplasia with Immune Deficiency 47 25
Eda-Id 25 69
Hyper-Igm Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic 67
Hyper-Igm Immunodeficiency X-Linked with Ectodermal Dysplasia Hypohidrotic 69
 
Hyper-Igm Immunodeficiency with Hypohidrotic Ectodermal Dysplasia 25
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency X-Linked 69
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 69
Ectodermal Dysplasia Anhidrotic with Immune Deficiency 69
Nemo Deficiency 69
Xhm-Ed 69
Edaid 69

Characteristics:

HPO:

63
ectodermal dysplasia, hypohidrotic, with immune deficiency:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM51 300291
MeSH38 D004476

Summaries for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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Genetics Home Reference:25 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 immunodeficiency 33 and ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, and has symptoms including ectodermal dysplasia, recurrent infections and immunodeficiency. 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:51 Hypohidrotic ectodermal dysplasia (HED; 305100), a congenital disorder of teeth, hair, and eccrine sweat glands, is... (300291) more...

UniProtKB/Swiss-Prot:69 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
1immunodeficiency 3311.6
2ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency11.2
3hypohidrotic ectodermal dysplasia with immunodeficiency11.2
4nf-kappa b essential modulator deficiency11.0
5incontinentia pigmenti9.7

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

Human phenotypes related to Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency:

 63
id Description HPO Frequency HPO Source Accession
1 ectodermal dysplasia63 HP:0000968
2 recurrent infections63 HP:0002719
3 immunodeficiency63 HP:0002721
4 dysgammaglobulinemia63 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 Deficiency26 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:

35
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:

69
id Symbol AA change Variation ID SNP ID
1IKBKGp.Arg175ProVAR_011320rs179363868
2IKBKGp.Leu227ProVAR_011321rs179363869
3IKBKGp.Ala288GlyVAR_011322rs137853330
4IKBKGp.Asp311AsnVAR_011323rs179363867
5IKBKGp.Asp406ValVAR_011324rs137853327
6IKBKGp.Cys417PheVAR_011325rs137853326
7IKBKGp.Cys417ArgVAR_011326rs137853325
8IKBKGp.Leu153ArgVAR_026495rs137853328

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)SNVPathogenicrs137853324GRCh37Chr X, 153792587: 153792587
2IKBKGNM_003639.4(IKBKG): c.1249T> C (p.Cys417Arg)SNVPathogenicrs137853325GRCh37Chr X, 153792665: 153792665
3IKBKGIKBKG, 1-BP DUP, 1167CduplicationPathogenicChr na, -1: -1
4IKBKGNM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe)SNVPathogenicrs137853326GRCh37Chr X, 153792666: 153792666
5IKBKGNM_003639.4(IKBKG): c.1217A> T (p.Asp406Val)SNVPathogenicrs137853327GRCh37Chr X, 153792633: 153792633
6IKBKGIKBKG, 4.4-KB DUPduplicationPathogenicChr na, -1: -1
7IKBKGNM_003639.4(IKBKG): c.458T> G (p.Leu153Arg)SNVPathogenicrs137853328GRCh37Chr X, 153786805: 153786805
8IKBKGNM_003639.4(IKBKG): c.1207C> T (p.Gln403Ter)SNVPathogenicrs137853329GRCh37Chr X, 153792623: 153792623
9IKBKGIKBKG, IVS6DS, G-A, +5SNVPathogenicChr na, -1: -1
10IKBKGIKBKG, 1-BP INS, 1409AinsertionPathogenicChr na, -1: -1
11IKBKGNM_003639.4(IKBKG): c.265_267delGAG (p.Glu89del)deletionLikely pathogenicrs386134238GRCh37Chr X, 153784457: 153784459
12IKBKGNM_003639.4(IKBKG): c.470A> C (p.Gln157Pro)SNVLikely 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet