EDAID1
MCID: ECT108
MIFTS: 33

Ectodermal Dysplasia and Immunodeficiency 1 (EDAID1)

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 56 73
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 56 52 25 13
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency 52 25 29 6
Hed-Id 52 25 73
Anhidrotic Ectodermal Dysplasia with Immune Deficiency 52 25
Edaid1 56 73
Eda-Id 25 73
Hyper-Igm Immunodeficiency, X-Linked, with Hypohidrotic Ectodermal Dysplasia; Xhmed 56
Hyper-Igm Immunodeficiency, X-Linked, with Hypohidrotic Ectodermal Dysplasia 56
Hyper-Igm Immunodeficiency X-Linked with Ectodermal Dysplasia Hypohidrotic 73
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency; Hedid 56
Hyper-Igm Immunodeficiency with Hypohidrotic Ectodermal Dysplasia 25
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency X-Linked 73
Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency 56
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 73
Ectodermal Dysplasia Anhidrotic with Immune Deficiency 73
Dysplasia, Ectodermal, and Immunodeficiency, Type 1 39
Nemo Deficiency 73
Xhm-Ed 73
Hedid 56
Xhmed 56

Characteristics:

HPO:

31
ectodermal dysplasia and immunodeficiency 1:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 56 300291
OMIM Phenotypic Series 56 PS300291
MeSH 43 D004476

Summaries for Ectodermal Dysplasia and Immunodeficiency 1

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. Skin abnormalities in children with EDA-ID include areas that are dry, wrinkled, or darker in color than the surrounding skin. Affected individuals tend to have sparse scalp and body hair (hypotrichosis). EDA-ID is also characterized by missing teeth (hypodontia) or teeth that are small and pointed. Most children with EDA-ID have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. An inability to sweat (anhidrosis) can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather and during exercise, because the body cannot cool itself by evaporating sweat. The immune deficiency in EDA-ID varies among individuals with this condition. Children with EDA-ID often produce abnormally low levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. A reduction in antibodies makes it difficult for children with this disorder to fight off infections. In EDA-ID, immune system cells called T cells and B cells have a decreased ability to recognize and respond to foreign invaders (such as bacteria, viruses, and yeast) that have sugar molecules attached to their surface (glycan antigens). Other key aspects of the immune system may also be impaired, leading to recurrent infections. Children with EDA-ID commonly get infections in the lungs (pneumonia), ears (otitis media), sinuses (sinusitis), lymph nodes (lymphadenitis), skin, bones, and gastrointestinal tract. Approximately one quarter of individuals with EDA-ID have disorders involving abnormal inflammation, such as inflammatory bowel disease or rheumatoid arthritis. There are two forms of EDA-ID that have similar signs and symptoms and are distinguished by the modes of inheritance: X-linked recessive or autosomal dominant.

MalaCards based summary : Ectodermal Dysplasia and Immunodeficiency 1, also known as ectodermal dysplasia, hypohidrotic, with immune deficiency, is related to ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema and immunodeficiency 33. An important gene associated with Ectodermal Dysplasia and Immunodeficiency 1 is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma), and among its related pathways/superpathways is ATM Signaling Network in Development and Disease. Affiliated tissues include t cells, b cells and bone, and related phenotypes are immunodeficiency and recurrent infections

OMIM : 56 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 : 73 Ectodermal dysplasia and immunodeficiency 1: 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

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:

31
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 recurrent infections 31 HP:0002719
3 ectodermal dysplasia 31 HP:0000968
4 dysgammaglobulinemia 31 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 29 IKBKG

Anatomical Context for Ectodermal Dysplasia and Immunodeficiency 1

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

40
T Cells, B Cells, Bone, Lymph Node, Lung, Skin, Neutrophil

Publications for Ectodermal Dysplasia and Immunodeficiency 1

Articles related to Ectodermal Dysplasia and Immunodeficiency 1:

(show all 22)
# Title Authors PMID Year
1
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency. 56 6
30422821 2019
2
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. 56 6
16333836 2006
3
A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. 56 6
16228229 2005
4
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. 56 6
11242109 2001
5
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. 56 6
11224521 2001
6
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). 56 6
11047757 2000
7
Transient B cell immaturity with intractable diarrhoea: a possible new immunodeficiency syndrome. 56 6
117248 1978
8
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. 61 6
12045264 2002
9
NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients. 6
20412081 2010
10
IgA and IgG hypogammaglobulinemia in Waldenström's macroglobulinemia. 6
19903677 2010
11
Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency. 56
19414794 2009
12
Clinical and molecular analysis of NF-kappaB essential modulator in Chinese incontinentia pigmenti patients. 6
17910706 2007
13
A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide- and tumor necrosis factor-mediated NF-kappa B activation. 6
16379012 2006
14
X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. 6
14726382 2004
15
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). 6
11484156 2001
16
Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). 6
11179023 2001
17
The zinc finger domain of IKKγ (NEMO) protein in health and disease. 61
20345847 2010
18
Preimplantation diagnosis for immunodeficiencies. 61
17298726 2007
19
Preimplantation genetics: Improving access to stem cell therapy. 61
16339669 2005
20
Preimplantation HLA typing and stem cell transplantation: report of International Meeting, Cyprus, 27-8 March, 2004. 61
15354311 2004
21
Incontinentia pigmenti: a window to the role of NF-kappaB function. 61
15295921 2004
22
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. 61
11241484 2001

Variations for Ectodermal Dysplasia and Immunodeficiency 1

ClinVar genetic disease variations for Ectodermal Dysplasia and Immunodeficiency 1:

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IKBKG NM_003639.4(IKBKG):c.1171G>T (p.Glu391Ter)SNV Pathogenic 11453 rs137853324 X:153792587-153792587 X:154564372-154564372
2 IKBKG NM_003639.4(IKBKG):c.1249T>C (p.Cys417Arg)SNV Pathogenic 11454 rs137853325 X:153792665-153792665 X:154564450-154564450
3 IKBKG NM_003639.4(IKBKG):c.1250G>T (p.Cys417Phe)SNV Pathogenic 11456 rs137853326 X:153792666-153792666 X:154564451-154564451
4 IKBKG NM_003639.4(IKBKG):c.1217A>T (p.Asp406Val)SNV Pathogenic 11457 rs137853327 X:153792633-153792633 X:154564418-154564418
5 IKBKG IKBKG, 4.4-KB DUPduplication Pathogenic 11459
6 IKBKG NM_003639.4(IKBKG):c.458T>G (p.Leu153Arg)SNV Pathogenic 11460 rs137853328 X:153786805-153786805 X:154558590-154558590
7 IKBKG NM_003639.4(IKBKG):c.1207C>T (p.Gln403Ter)SNV Pathogenic 11461 rs137853329 X:153792623-153792623 X:154564408-154564408
8 IKBKG NM_003639.4(IKBKG):c.768+5G>ASNV Pathogenic 11462 rs1569556603 X:153790004-153790004 X:154561789-154561789
9 IKBKG IKBKG, 1-BP INS, 1409Ainsertion Pathogenic 11463
10 IKBKG NM_003639.4(IKBKG):c.863C>G (p.Ala288Gly)SNV Pathogenic 11466 rs137853330 X:153791119-153791119 X:154562904-154562904
11 IKBKG NM_003639.4(IKBKG):c.1167dup (p.Glu390fs)duplication Pathogenic 372387 rs782178147 X:153792576-153792577 X:154564361-154564362
12 IKBKG IKBKG, IVS4DS, C-T, +866SNV Pathogenic 619016
13 IKBKG NM_003639.4(IKBKG):c.185G>A (p.Arg62Gln)SNV Likely pathogenic 430903 rs782604431 X:153780402-153780402 X:154552187-154552187
14 IKBKG NM_003639.4(IKBKG):c.262_264GAG[1] (p.Glu89del)short repeat Likely pathogenic 36380 rs386134238 X:153784453-153784455 X:154556238-154556240
15 IKBKG NM_003639.4(IKBKG):c.470A>C (p.Gln157Pro)SNV Likely pathogenic 36382 rs386134240 X:153786817-153786817 X:154558602-154558602
16 IKBKG NM_003639.4(IKBKG):c.931G>A (p.Asp311Asn)SNV Likely pathogenic 68239 rs179363867 X:153791792-153791792 X:154563577-154563577
17 IKBKG NM_003639.4(IKBKG):c.518+7C>TSNV Uncertain significance 36383 rs386134241 X:153786872-153786872 X:154558657-154558657
18 IKBKG NM_003639.4(IKBKG):c.399+19G>CSNV Uncertain significance 36381 rs386134239 X:153784610-153784610 X:154556395-154556395
19 IKBKG NM_001360016.2(G6PD):c.120+3646C>TSNV Uncertain significance 625962 rs782367664 X:153770605-153770605 X:154542390-154542390
20 IKBKG NM_003639.4(IKBKG):c.1056-18C>TSNV Uncertain significance 36378 rs386134237 X:153792156-153792156 X:154563941-154563941
21 IKBKG NM_003639.4(IKBKG):c.1056-6=SNV Uncertain significance 36379 rs5945206 X:153792168-153792168 X:154563953-154563953

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

73
# 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

Expression for Ectodermal Dysplasia and Immunodeficiency 1

Search GEO for disease gene expression data for Ectodermal Dysplasia and Immunodeficiency 1.

Pathways for Ectodermal Dysplasia and Immunodeficiency 1

Pathways related to Ectodermal Dysplasia and Immunodeficiency 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.29 IKBKG G6PD

GO Terms for Ectodermal Dysplasia and Immunodeficiency 1

Molecular functions related to Ectodermal Dysplasia and Immunodeficiency 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.96 IKBKG G6PD
2 protein homodimerization activity GO:0042803 8.62 IKBKG G6PD

Sources for Ectodermal Dysplasia and Immunodeficiency 1

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10 dbSNP
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17 EFO
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57 OMIM via Orphanet
61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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