EDAID1
MCID: ECT108
MIFTS: 36

Ectodermal Dysplasia and Immunodeficiency 1 (EDAID1)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin 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 29 6
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 56 52 25 13
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 56 29 6
Hed-Id 52 25 73
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency 52 25
Anhidrotic Ectodermal Dysplasia with Immune Deficiency 52 25
Oledaid 56 73
Edaid1 56 73
Eda-Id 25 73
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema; Oledaid 56
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis and Lymphedema 73
Hyper-Igm Immunodeficiency, X-Linked, with Hypohidrotic Ectodermal Dysplasia; Xhmed 56
Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome 58
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
Ol-Eda-Id 58
Xhm-Ed 73
Hedid 56
Xhmed 56

Characteristics:

Orphanet epidemiological data:

58
anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

HPO:

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


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


External Ids:

OMIM 56 300291
OMIM Phenotypic Series 56 PS300291
MeSH 43 D004476
ICD10 via Orphanet 33 Q78.2
UMLS via Orphanet 72 C1845919
Orphanet 58 ORPHA69088

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 and incontinentia pigmenti. 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 bone, skin and t cells, and related phenotypes are immunodeficiency and recurrent infections

OMIM : 56 Ectodermal dysplasia with immunodeficiency-1 (EDAID1) is an X-linked recessive disorder that characteristically affects only males. Affected individuals have onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life. There is increased susceptibility to bacterial, pneumococcal, mycobacterial, and fungal infections. Laboratory studies usually show dysgammaglobulinemia with low IgG subsets and normal or increased IgA and IgM, consistent with impaired 'class-switching' of B cells, although immunologic abnormalities may be subtle compared to the clinical picture, and B- and T-cell numbers are usually normal. There is a poor antibody response to polysaccharide vaccinations, particularly pneumococcus; response to other vaccinations is variable. Patients also have features of ectodermal dysplasia, including conical incisors, hypo/anhidrosis, and thin skin or hair. Severely affected individuals may also show lymphedema, osteopetrosis, and, rarely, hematologic abnormalities. The phenotype is highly variable, likely due to different hypomorphic mutations, and may be fatal in childhood. Intravenous immunoglobulins and prophylactic antibiotics are used as treatment; some patients may benefit from bone marrow transplantation. Although only males tend to be affected with immunodeficiency, many patients inherit a mutation from a mother who has mild features of IP or conical teeth (summary by Doffinger et al., 2001, Orange et al., 2004, Roberts et al., 2010, Heller et al., 2020). (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.
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the association of anhidrotic ectodermal dysplasia with severe immunodeficiency, osteopetrosis and lymphedema.

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 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 29
2 Ectodermal Dysplasia and Immunodeficiency 1 29 IKBKG

Anatomical Context for Ectodermal Dysplasia and Immunodeficiency 1

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

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

Publications for Ectodermal Dysplasia and Immunodeficiency 1

Articles related to Ectodermal Dysplasia and Immunodeficiency 1:

(show all 34)
# Title Authors PMID Year
1
A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. 61 6 56
16228229 2005
2
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. 6 56 61
12045264 2002
3
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). 6 61 56
11047757 2000
4
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. 6 56
16333836 2006
5
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. 6 56
11242109 2001
6
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. 6 56
11224521 2001
7
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. 56 6
10839543 2000
8
Transient B cell immaturity with intractable diarrhoea: a possible new immunodeficiency syndrome. 56 6
117248 1978
9
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). 61 56
20499091 2010
10
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). 6 61
11484156 2001
11
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. 56 61
11241484 2001
12
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency. 56
31965418 2020
13
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency. 6
30422821 2019
14
A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID). 56
27368913 2016
15
Successful hematopoietic cell transplantation in patients with unique NF-κB essential modulator (NEMO) mutations. 56
25068423 2014
16
NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients. 6
20412081 2010
17
IgA and IgG hypogammaglobulinemia in Waldenström's macroglobulinemia. 6
19903677 2010
18
Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency. 56
19414794 2009
19
Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency. 56
18851875 2008
20
Clinical and molecular analysis of NF-kappaB essential modulator in Chinese incontinentia pigmenti patients. 6
17910706 2007
21
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
22
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
23
The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. 56
15100680 2004
24
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. 56
12042591 2002
25
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
26
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. 61
27411570 2016
27
B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand. 61
26307434 2015
28
Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections. 61
23405946 2014
29
The zinc finger domain of IKKγ (NEMO) protein in health and disease. 61
20345847 2010
30
Mutations in the zinc finger domain of IKK gamma block the activation of NF-kappa B and the induction of IL-2 in stimulated T lymphocytes. 61
18207244 2008
31
The NF-kappaB canonical pathway is involved in the control of the exonucleolytic processing of coding ends during V(D)J recombination. 61
18178844 2008
32
Preimplantation diagnosis for immunodeficiencies. 61
17298726 2007
33
Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected]. 61
16547522 2006
34
A role for NF-kappaB essential modifier/IkappaB kinase-gamma (NEMO/IKKgamma) ubiquitination in the activation of the IkappaB kinase complex by tumor necrosis factor-alpha. 61
12867425 2003

Variations for Ectodermal Dysplasia and Immunodeficiency 1

ClinVar genetic disease variations for Ectodermal Dysplasia and Immunodeficiency 1:

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

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 protein homodimerization activity GO:0042803 8.62 IKBKG G6PD

Sources for Ectodermal Dysplasia and Immunodeficiency 1

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