EDAID
MCID: ECT108
MIFTS: 24

Ectodermal Dysplasia and Immunodeficiency 1 (EDAID)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ectodermal Dysplasia and Immunodeficiency 1

MalaCards integrated aliases for Ectodermal Dysplasia and Immunodeficiency 1:

Name: Ectodermal Dysplasia and Immunodeficiency 1 58
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 58 54 26 13
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency 54 26 30 6
Hed-Id 54 26 76
Anhidrotic Ectodermal Dysplasia with Immune Deficiency 54 26
Eda-Id 26 76
Hyper-Igm Immunodeficiency, X-Linked, with Hypohidrotic Ectodermal Dysplasia; Xhmed 58
Hyper-Igm Immunodeficiency, X-Linked, with Hypohidrotic Ectodermal Dysplasia 58
Hyper-Igm Immunodeficiency X-Linked with Ectodermal Dysplasia Hypohidrotic 76
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency; Hedid 58
Hyper-Igm Immunodeficiency with Hypohidrotic Ectodermal Dysplasia 26
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency X-Linked 76
Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency 58
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 76
Ectodermal Dysplasia Anhidrotic with Immune Deficiency 76
Dysplasia, Ectodermal, and Immunodeficiency, Type 1 41
Nemo Deficiency 76
Edaid1 58
Xhm-Ed 76
Hedid 58
Xhmed 58
Edaid 76

Characteristics:

HPO:

33
ectodermal dysplasia and immunodeficiency 1:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 58 300291
MeSH 45 D004476

Summaries for Ectodermal Dysplasia and Immunodeficiency 1

Genetics Home Reference : 26 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 and Immunodeficiency 1, also known as ectodermal dysplasia, hypohidrotic, with immune deficiency, is related to immunodeficiency 33 and hypohidrotic ectodermal dysplasia with immunodeficiency. An important gene associated with Ectodermal Dysplasia and Immunodeficiency 1 is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma). Affiliated tissues include skin, and related phenotypes are immunodeficiency and recurrent infections

OMIM : 58 Ectodermal dysplasia with immunodeficiency-1 is an X-linked recessive disorder characterized by variable ectodermal features, but most often including hypo/anhidrosis, and various immunologic and infectious phenotypes of differing severity. (300291)

UniProtKB/Swiss-Prot : 76 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 and Immunodeficiency 1

Diseases related to Ectodermal Dysplasia and Immunodeficiency 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 33 11.9
2 hypohidrotic ectodermal dysplasia with immunodeficiency 11.5
3 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 11.4
4 ectodermal dysplasia and immunodeficiency 2 11.4
5 nf-kappa b essential modulator deficiency 11.3
6 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.4
7 osteopetrosis 10.3
8 ectodermal dysplasia 10.2
9 duodenal atresia 10.2
10 incontinentia pigmenti 10.0

Graphical network of the top 20 diseases related to Ectodermal Dysplasia and Immunodeficiency 1:



Diseases related to Ectodermal Dysplasia and Immunodeficiency 1

Symptoms & Phenotypes for Ectodermal Dysplasia and Immunodeficiency 1

Human phenotypes related to Ectodermal Dysplasia and Immunodeficiency 1:

33
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 33 HP:0002721
2 recurrent infections 33 HP:0002719
3 ectodermal dysplasia 33 HP:0000968
4 dysgammaglobulinemia 33 HP:0002961

Clinical features from OMIM:

300291

Drugs & Therapeutics for Ectodermal Dysplasia and Immunodeficiency 1

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia and Immunodeficiency 1

Genetic Tests for Ectodermal Dysplasia and Immunodeficiency 1

Genetic tests related to Ectodermal Dysplasia and Immunodeficiency 1:

# Genetic test Affiliating Genes
1 Hypohidrotic Ectodermal Dysplasia with Immune Deficiency 30 IKBKG

Anatomical Context for Ectodermal Dysplasia and Immunodeficiency 1

MalaCards organs/tissues related to Ectodermal Dysplasia and Immunodeficiency 1:

42
Skin

Publications for Ectodermal Dysplasia and Immunodeficiency 1

Articles related to Ectodermal Dysplasia and Immunodeficiency 1:

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

Variations for Ectodermal Dysplasia and Immunodeficiency 1

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia and Immunodeficiency 1:

76
# 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 and Immunodeficiency 1:

6 (show all 37)
# 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 NM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe) single nucleotide variant Pathogenic rs137853326 GRCh37 Chromosome X, 153792666: 153792666
6 IKBKG NM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe) single nucleotide variant Pathogenic rs137853326 GRCh38 Chromosome X, 154564451: 154564451
7 IKBKG NM_003639.4(IKBKG): c.1217A> T (p.Asp406Val) single nucleotide variant Pathogenic rs137853327 GRCh37 Chromosome X, 153792633: 153792633
8 IKBKG NM_003639.4(IKBKG): c.1217A> T (p.Asp406Val) single nucleotide variant Pathogenic rs137853327 GRCh38 Chromosome X, 154564418: 154564418
9 IKBKG IKBKG, 4.4-KB DUP duplication Pathogenic
10 IKBKG NM_003639.4(IKBKG): c.458T> G (p.Leu153Arg) single nucleotide variant Pathogenic rs137853328 GRCh37 Chromosome X, 153786805: 153786805
11 IKBKG NM_003639.4(IKBKG): c.458T> G (p.Leu153Arg) single nucleotide variant Pathogenic rs137853328 GRCh38 Chromosome X, 154558590: 154558590
12 IKBKG NM_003639.4(IKBKG): c.1207C> T (p.Gln403Ter) single nucleotide variant Pathogenic rs137853329 GRCh37 Chromosome X, 153792623: 153792623
13 IKBKG NM_003639.4(IKBKG): c.1207C> T (p.Gln403Ter) single nucleotide variant Pathogenic rs137853329 GRCh38 Chromosome X, 154564408: 154564408
14 IKBKG NM_003639.4(IKBKG): c.768+5G> A single nucleotide variant Pathogenic GRCh38 Chromosome X, 154561789: 154561789
15 IKBKG NM_003639.4(IKBKG): c.768+5G> A single nucleotide variant Pathogenic GRCh37 Chromosome X, 153790004: 153790004
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.1056-18C> T single nucleotide variant Uncertain significance rs386134237 GRCh37 Chromosome X, 153792156: 153792156
20 IKBKG NM_003639.4(IKBKG): c.1056-18C> T single nucleotide variant Uncertain significance rs386134237 GRCh38 Chromosome X, 154563941: 154563941
21 IKBKG NM_003639.4(IKBKG): c.1056-6T> C single nucleotide variant Uncertain significance rs5945206 GRCh37 Chromosome X, 153792168: 153792168
22 IKBKG NM_003639.4(IKBKG): c.1056-6T> C single nucleotide variant Uncertain significance rs5945206 GRCh38 Chromosome X, 154563953: 154563953
23 IKBKG NM_003639.4(IKBKG): c.265_267delGAG (p.Glu89del) deletion Likely pathogenic rs386134238 GRCh37 Chromosome X, 153784457: 153784459
24 IKBKG NM_003639.4(IKBKG): c.265_267delGAG (p.Glu89del) deletion Likely pathogenic rs386134238 GRCh38 Chromosome X, 154556242: 154556244
25 IKBKG NM_003639.4(IKBKG): c.399+19G> C single nucleotide variant Uncertain significance rs386134239 GRCh37 Chromosome X, 153784610: 153784610
26 IKBKG NM_003639.4(IKBKG): c.399+19G> C single nucleotide variant Uncertain significance rs386134239 GRCh38 Chromosome X, 154556395: 154556395
27 IKBKG NM_003639.4(IKBKG): c.470A> C (p.Gln157Pro) single nucleotide variant Likely pathogenic rs386134240 GRCh37 Chromosome X, 153786817: 153786817
28 IKBKG NM_003639.4(IKBKG): c.470A> C (p.Gln157Pro) single nucleotide variant Likely pathogenic rs386134240 GRCh38 Chromosome X, 154558602: 154558602
29 IKBKG NM_003639.4(IKBKG): c.518+7C> T single nucleotide variant Uncertain significance rs386134241 GRCh37 Chromosome X, 153786872: 153786872
30 IKBKG NM_003639.4(IKBKG): c.518+7C> T single nucleotide variant Uncertain significance rs386134241 GRCh38 Chromosome X, 154558657: 154558657
31 IKBKG NM_003639.4(IKBKG): c.931G> A (p.Asp311Asn) single nucleotide variant Likely pathogenic rs179363867 GRCh37 Chromosome X, 153791792: 153791792
32 IKBKG NM_003639.4(IKBKG): c.931G> A (p.Asp311Asn) single nucleotide variant Likely pathogenic rs179363867 GRCh38 Chromosome X, 154563577: 154563577
33 IKBKG NM_003639.4(IKBKG): c.1167dup (p.Glu390Argfs) duplication Pathogenic rs782178147 GRCh37 Chromosome X, 153792583: 153792583
34 IKBKG NM_003639.4(IKBKG): c.1167dup (p.Glu390Argfs) duplication Pathogenic rs782178147 GRCh38 Chromosome X, 154564368: 154564368
35 IKBKG NM_003639.4(IKBKG): c.185G> A (p.Arg62Gln) single nucleotide variant Likely pathogenic rs782604431 GRCh38 Chromosome X, 154552187: 154552187
36 IKBKG NM_003639.4(IKBKG): c.185G> A (p.Arg62Gln) single nucleotide variant Likely pathogenic rs782604431 GRCh37 Chromosome X, 153780402: 153780402
37 IKBKG IKBKG, IVS4DS, C-T, +866 single nucleotide variant Pathogenic

Expression for Ectodermal Dysplasia and Immunodeficiency 1

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Pathways for Ectodermal Dysplasia and Immunodeficiency 1

GO Terms for Ectodermal Dysplasia and Immunodeficiency 1

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