EDAID
MCID: ECT076
MIFTS: 25

Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency (EDAID) 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 52 48 25 12 68
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency 48 24 25 27
Hed-Id 48 25 70
Anhidrotic Ectodermal Dysplasia with Immune Deficiency 48 25
Eda-Id 25 70
Hyper-Igm Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic 68
Hyper-Igm Immunodeficiency X-Linked with Ectodermal Dysplasia Hypohidrotic 70
 
Hyper-Igm Immunodeficiency with Hypohidrotic Ectodermal Dysplasia 25
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency X-Linked 70
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 70
Ectodermal Dysplasia Anhidrotic with Immune Deficiency 70
Nemo Deficiency 70
Xhm-Ed 70
Edaid 70

Characteristics:

HPO:

64
ectodermal dysplasia, hypohidrotic, with immune deficiency:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM52 300291
MeSH39 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, and due to the severity of the immune system problems, most people with this condition survive only into childhood.

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 Nuclear Factor Kappa B Kinase Subunit Gamma). Affiliated tissues include skin.

UniProtKB/Swiss-Prot:70 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.

OMIM:52 Hypohidrotic ectodermal dysplasia (HED; 305100), a congenital disorder of teeth, hair, and eccrine sweat glands, is... (300291) more...

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
4ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency11.1
5nf-kappa b essential modulator deficiency11.0
6incontinentia pigmenti9.7

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



Diseases related to ectodermal dysplasia, hypohidrotic, with immune deficiency

Symptoms & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 ectodermal dysplasia64 HP:0000968
2 recurrent infections64 HP:0002719
3 immunodeficiency64 HP:0002721
4 dysgammaglobulinemia64 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 Deficiency27 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:

36
Skin

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:

70
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, 1167CduplicationPathogenic
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 DUPduplicationPathogenic
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, +5SNVPathogenic
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)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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet