MCID: ECT076
MIFTS: 24

Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

Categories: Genetic diseases, Rare diseases, Immune diseases

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

MalaCards integrated aliases for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency:

Name: Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 57 53 25 13 73
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency 53 25 29 6
Hed-Id 57 53 25 75
Anhidrotic Ectodermal Dysplasia with Immune Deficiency 53 25 6
Eda-Id 25 75
Hyper-Igm Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic 73
Hyper-Igm Immunodeficiency, X-Linked, with Hypohidrotic Ectodermal Dysplasia 6
Hyper-Igm Immunodeficiency X-Linked with Ectodermal Dysplasia Hypohidrotic 75
Hyper-Igm Immunodeficiency with Hypohidrotic Ectodermal Dysplasia 25
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency X-Linked 75
Dysplasia, Ectodermal, Hypohidrotic, with Immune Deficiency 40
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 75
Ectodermal Dysplasia Anhidrotic with Immune Deficiency 75
Nemo Deficiency 75
Xhm-Ed 75
Edaid 75

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 57 300291
MeSH 44 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, autosomal dominant. 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, and related phenotypes are ectodermal dysplasia and recurrent infections

OMIM : 57 Hypohidrotic ectodermal dysplasia (HED; 305100), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal dominant (129490) and autosomal recessive (224900) forms exist. (300291)

UniProtKB/Swiss-Prot : 75 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

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

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 33 11.7
2 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant 11.3
3 hypohidrotic ectodermal dysplasia with immunodeficiency 11.3
4 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 11.2
5 nf-kappa b essential modulator deficiency 11.1
6 ectodermal dysplasia 10.1
7 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
# Description HPO Frequency HPO Source Accession
1 ectodermal dysplasia 32 HP:0000968
2 recurrent infections 32 HP:0002719
3 immunodeficiency 32 HP:0002721
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:

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

Anatomical Context for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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

41
Skin

Publications for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

Articles related to Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency:

# Title Authors Year
1
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. ( 28629746 )
2017

Variations for Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

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

75
# 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 26)
# 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.1171G> T (p.Glu391Ter) single nucleotide variant Pathogenic rs137853324 GRCh38 Chromosome X, 154564372: 154564372
3 IKBKG NM_003639.4(IKBKG): c.1249T> C (p.Cys417Arg) single nucleotide variant Pathogenic rs137853325 GRCh37 Chromosome X, 153792665: 153792665
4 IKBKG NM_003639.4(IKBKG): c.1249T> C (p.Cys417Arg) single nucleotide variant Pathogenic rs137853325 GRCh38 Chromosome X, 154564450: 154564450
5 IKBKG IKBKG, 1-BP DUP, 1167C duplication Pathogenic
6 IKBKG NM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe) single nucleotide variant Pathogenic rs137853326 GRCh37 Chromosome X, 153792666: 153792666
7 IKBKG NM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe) single nucleotide variant Pathogenic rs137853326 GRCh38 Chromosome X, 154564451: 154564451
8 IKBKG NM_003639.4(IKBKG): c.1217A> T (p.Asp406Val) single nucleotide variant Pathogenic rs137853327 GRCh37 Chromosome X, 153792633: 153792633
9 IKBKG NM_003639.4(IKBKG): c.1217A> T (p.Asp406Val) single nucleotide variant Pathogenic rs137853327 GRCh38 Chromosome X, 154564418: 154564418
10 IKBKG IKBKG, 4.4-KB DUP duplication Pathogenic
11 IKBKG NM_003639.4(IKBKG): c.458T> G (p.Leu153Arg) single nucleotide variant Pathogenic rs137853328 GRCh37 Chromosome X, 153786805: 153786805
12 IKBKG NM_003639.4(IKBKG): c.458T> G (p.Leu153Arg) single nucleotide variant Pathogenic rs137853328 GRCh38 Chromosome X, 154558590: 154558590
13 IKBKG NM_003639.4(IKBKG): c.1207C> T (p.Gln403Ter) single nucleotide variant Pathogenic rs137853329 GRCh37 Chromosome X, 153792623: 153792623
14 IKBKG NM_003639.4(IKBKG): c.1207C> T (p.Gln403Ter) single nucleotide variant Pathogenic rs137853329 GRCh38 Chromosome X, 154564408: 154564408
15 IKBKG IKBKG, IVS6DS, G-A, +5 single nucleotide variant Pathogenic
16 IKBKG IKBKG, 1-BP INS, 1409A insertion Pathogenic
17 IKBKG NM_003639.4(IKBKG): c.863C> G (p.Ala288Gly) single nucleotide variant Pathogenic rs137853330 GRCh37 Chromosome X, 153791119: 153791119
18 IKBKG NM_003639.4(IKBKG): c.863C> G (p.Ala288Gly) single nucleotide variant Pathogenic rs137853330 GRCh38 Chromosome X, 154562904: 154562904
19 IKBKG NM_003639.4(IKBKG): c.265_267delGAG (p.Glu89del) deletion Likely pathogenic rs386134238 GRCh37 Chromosome X, 153784457: 153784459
20 IKBKG NM_003639.4(IKBKG): c.265_267delGAG (p.Glu89del) deletion Likely pathogenic rs386134238 GRCh38 Chromosome X, 154556242: 154556244
21 IKBKG NM_003639.4(IKBKG): c.470A> C (p.Gln157Pro) single nucleotide variant Likely pathogenic rs386134240 GRCh37 Chromosome X, 153786817: 153786817
22 IKBKG NM_003639.4(IKBKG): c.470A> C (p.Gln157Pro) single nucleotide variant Likely pathogenic rs386134240 GRCh38 Chromosome X, 154558602: 154558602
23 IKBKG NM_003639.4(IKBKG): c.931G> A (p.Asp311Asn) single nucleotide variant Likely pathogenic rs179363867 GRCh37 Chromosome X, 153791792: 153791792
24 IKBKG NM_003639.4(IKBKG): c.931G> A (p.Asp311Asn) single nucleotide variant Likely pathogenic rs179363867 GRCh38 Chromosome X, 154563577: 154563577
25 IKBKG NM_003639.4(IKBKG): c.185G> A (p.Arg62Gln) single nucleotide variant Likely pathogenic rs782604431 GRCh38 Chromosome X, 154552187: 154552187
26 IKBKG NM_003639.4(IKBKG): c.185G> A (p.Arg62Gln) single nucleotide variant Likely pathogenic rs782604431 GRCh37 Chromosome X, 153780402: 153780402

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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