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

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

Name: Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 54 50 25 13 69
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency 50 24 25 29
Hed-Id 50 25 66
Anhidrotic Ectodermal Dysplasia with Immune Deficiency 50 25
Eda-Id 25 66
Hyper-Igm Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic 69
Hyper-Igm Immunodeficiency X-Linked with Ectodermal Dysplasia Hypohidrotic 66
Hyper-Igm Immunodeficiency with Hypohidrotic Ectodermal Dysplasia 25
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency X-Linked 66
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 66
Ectodermal Dysplasia Anhidrotic with Immune Deficiency 66
Nemo Deficiency 66
Xhm-Ed 66
Edaid 66

Characteristics:

HPO:

32
ectodermal dysplasia, hypohidrotic, with immune deficiency:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 300291
MeSH 42 D004476

Summaries for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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 immunodeficiency, recurrent infections and ectodermal dysplasia. 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 : 66 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 : 54 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

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

id Related Disease Score Top Affiliating Genes
1 immunodeficiency 33 11.6
2 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency 11.2
3 hypohidrotic ectodermal dysplasia with immunodeficiency 11.2
4 ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 11.1
5 nf-kappa b essential modulator deficiency 11.0
6 incontinentia pigmenti 9.7

Graphical network of the top 20 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

Clinical features from OMIM:

300291

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

32
id Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 recurrent infections 32 HP:0002719
3 ectodermal dysplasia 32 HP:0000968
4 dysgammaglobulinemia 32 HP:0002961

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

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

Genetic Tests for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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

id Genetic test Affiliating Genes
1 Hypohidrotic Ectodermal Dysplasia with Immune Deficiency 29 24 IKBKG

Anatomical Context for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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

39
Skin

Publications for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

Variations for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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

66
id Symbol AA change Variation ID SNP ID
1 IKBKG p.Arg175Pro VAR_011320 rs179363868
2 IKBKG p.Leu227Pro VAR_011321 rs179363869
3 IKBKG p.Ala288Gly VAR_011322 rs137853330
4 IKBKG p.Asp311Asn VAR_011323 rs179363867
5 IKBKG p.Asp406Val VAR_011324 rs137853327
6 IKBKG p.Cys417Phe VAR_011325 rs137853326
7 IKBKG p.Cys417Arg VAR_011326 rs137853325
8 IKBKG p.Leu153Arg VAR_026495 rs137853328

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

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 IKBKG NM_003639.4(IKBKG): c.1171G> T (p.Glu391Ter) single nucleotide variant Pathogenic rs137853324 GRCh37 Chromosome X, 153792587: 153792587
2 IKBKG NM_003639.4(IKBKG): c.1249T> C (p.Cys417Arg) single nucleotide variant Pathogenic rs137853325 GRCh37 Chromosome X, 153792665: 153792665
3 IKBKG IKBKG, 1-BP DUP, 1167C duplication Pathogenic
4 IKBKG NM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe) single nucleotide variant Pathogenic rs137853326 GRCh37 Chromosome X, 153792666: 153792666
5 IKBKG NM_003639.4(IKBKG): c.1217A> T (p.Asp406Val) single nucleotide variant Pathogenic rs137853327 GRCh37 Chromosome X, 153792633: 153792633
6 IKBKG IKBKG, 4.4-KB DUP duplication Pathogenic
7 IKBKG NM_003639.4(IKBKG): c.458T> G (p.Leu153Arg) single nucleotide variant Pathogenic rs137853328 GRCh37 Chromosome X, 153786805: 153786805
8 IKBKG NM_003639.4(IKBKG): c.1207C> T (p.Gln403Ter) single nucleotide variant Pathogenic rs137853329 GRCh37 Chromosome X, 153792623: 153792623
9 IKBKG IKBKG, IVS6DS, G-A, +5 single nucleotide variant Pathogenic
10 IKBKG IKBKG, 1-BP INS, 1409A insertion Pathogenic
11 IKBKG NM_003639.4(IKBKG): c.863C> G (p.Ala288Gly) single nucleotide variant Pathogenic rs137853330 GRCh37 Chromosome X, 153791119: 153791119
12 IKBKG NM_003639.4(IKBKG): c.265_267delGAG (p.Glu89del) deletion Likely pathogenic rs386134238 GRCh37 Chromosome X, 153784457: 153784459
13 IKBKG NM_003639.4(IKBKG): c.470A> C (p.Gln157Pro) single nucleotide variant Likely pathogenic rs386134240 GRCh37 Chromosome X, 153786817: 153786817

Expression for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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

Pathways for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

GO Terms for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

Sources for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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