EDAID1
MCID: ECT108
MIFTS: 39

Ectodermal Dysplasia and Immunodeficiency 1 (EDAID1)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Ectodermal Dysplasia and Immunodeficiency 1

MalaCards integrated aliases for Ectodermal Dysplasia and Immunodeficiency 1:

Name: Ectodermal Dysplasia and Immunodeficiency 1 57 11 73 28 5
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 57 19 42 12 71
Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome 58 28 5
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency 19 42 75
Hed-Id 19 42 73
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 57 71
Anhidrotic Ectodermal Dysplasia with Immune Deficiency 19 42
Oledaid 57 73
Edaid1 57 73
Eda-Id 42 73
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis and Lymphedema 73
Hyper-Igm Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic 71
Hyper-Igm Immunodeficiency, X-Linked, with Hypohidrotic Ectodermal Dysplasia 57
Hyper-Igm Immunodeficiency X-Linked with Ectodermal Dysplasia Hypohidrotic 73
Hyper-Igm Immunodeficiency with Hypohidrotic Ectodermal Dysplasia 42
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency X-Linked 73
Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency 57
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 73
Ectodermal Dysplasia Anhidrotic with Immune Deficiency 73
Dysplasia, Ectodermal, and Immunodeficiency, Type 1 38
Nemo Deficiency 73
Ol-Eda-Id 58
Xhm-Ed 73
Hedid 57
Xhmed 57

Characteristics:


Inheritance:

Ectodermal Dysplasia and Immunodeficiency 1: X-linked recessive 57
Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome: X-linked recessive 58

Prevelance:

Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
highly variable severity
onset usually in infancy or early childhood
laboratory abnormalities may be subtle and may change over time
treatment with ivig is beneficial
carrier mothers may have conical teeth, hypodontia, or ip


Classifications:

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


External Ids:

Disease Ontology 11 DOID:0081078
OMIM® 57 300291
OMIM Phenotypic Series 57 PS300291
MeSH 43 D004476
ICD10 via Orphanet 32 Q78.2
UMLS via Orphanet 72 C1845919
Orphanet 58 ORPHA69088
UMLS 71 C1845919 C1846006 C1846008

Summaries for Ectodermal Dysplasia and Immunodeficiency 1

MedlinePlus Genetics: 42 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 immunodeficiency 33 and ectodermal dysplasia and immunodeficiency 2. 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, b cells and bone, and related phenotypes are frontal bossing and lymphedema

OMIM®: 57 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDAID1 is an X-linked recessive disorder characterized by absence of sweat glands, sparse scalp hair, rare conical teeth and immunological abnormalities resulting in severe infectious diseases. Severely affected individuals may also show lymphedema, osteopetrosis, and, rarely, hematologic abnormalities. The phenotype is highly variable, and may be fatal in childhood.

GARD: 19 A rare ectodermal dysplasia syndrome characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.

Disease Ontology: 11 An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has material basis in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28.

Orphanet: 58 This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.

Wikipedia: 75 Hypohidrotic/anhidrotic ectodermal dysplasia with immune deficiency is a rare genetic condition... more...

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:

30 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 30 Very rare (1%) HP:0002007
2 lymphedema 30 Very rare (1%) HP:0001004
3 conical incisor 30 Very rare (1%) HP:0011065
4 sparse hair 30 Very rare (1%) HP:0008070
5 increased circulating iga level 30 Very rare (1%) HP:0003261
6 recurrent bacterial infections 30 Very rare (1%) HP:0002718
7 increased circulating igm level 30 Very rare (1%) HP:0003496
8 reduced natural killer cell activity 30 Very rare (1%) HP:0012178
9 severe cytomegalovirus infection 30 Very rare (1%) HP:0031692
10 molluscum contagiosum 30 Very rare (1%) HP:0032163
11 aplasia of the eccrine sweat glands 30 Very rare (1%) HP:0040042
12 immunodeficiency 30 HP:0002721
13 ectodermal dysplasia 30 HP:0000968
14 dysgammaglobulinemia 30 HP:0002961
15 abnormal circulating igg level 30 HP:0410242

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Skin:
dry skin
hypohidrosis
anhidrosis
thin skin
ectodermal dysplasia
more
Skin Nails Hair Hair:
sparse hair

Skeletal:
osteopetrosis (in some patients)

Head And Neck Teeth:
delayed eruption of teeth
hypodontia
conical teeth

Immunology:
recurrent infections
dysgammaglobulinemia
hypogammaglobulinemia
variably impaired immunologic function
increased igm (in some patients)
more
Muscle Soft Tissue:
edema (in some patients)

Clinical features from OMIM®:

300291 (Updated 08-Dec-2022)

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 Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome 28
2 Ectodermal Dysplasia and Immunodeficiency 1 28 IKBKG

Anatomical Context for Ectodermal Dysplasia and Immunodeficiency 1

Organs/tissues related to Ectodermal Dysplasia and Immunodeficiency 1:

MalaCards : Skin, B Cells, Bone, Bone Marrow, T Cells, Smooth Muscle, Neutrophil

Publications for Ectodermal Dysplasia and Immunodeficiency 1

Articles related to Ectodermal Dysplasia and Immunodeficiency 1:

(show top 50) (show all 111)
# Title Authors PMID Year
1
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. 62 57 5
16333836 2006
2
A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. 62 57 5
16228229 2005
3
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. 62 57 5
12045264 2002
4
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. 62 57 5
11224521 2001
5
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. 62 57 5
11242109 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). 62 57 5
11047757 2000
7
The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. 57 5
15100680 2004
8
Transient B cell immaturity with intractable diarrhoea: a possible new immunodeficiency syndrome. 57 5
117248 1978
9
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency. 62 57
31965418 2020
10
A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID). 62 57
27368913 2016
11
Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura. 62 5
26117626 2015
12
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. 62 5
21622647 2011
13
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). 62 57
20499091 2010
14
Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency. 62 57
19414794 2009
15
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. 62 5
16379012 2006
16
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. 62 5
14726382 2004
17
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. 62 57
12042591 2002
18
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). 62 5
11484156 2001
19
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. 62 57
11241484 2001
20
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 5
29077208 2018
21
Successful hematopoietic cell transplantation in patients with unique NF-κB essential modulator (NEMO) mutations. 57
25068423 2014
22
Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO). 5
24682681 2014
23
Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. 5
18851874 2008
24
Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency. 57
18851875 2008
25
IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease. 5
16950813 2007
26
Mutations in the NF-kappaB signaling pathway: implications for human disease. 5
17072331 2006
27
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. 5
16818673 2006
28
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. 5
16532398 2006
29
NEMO mutations in 2 unrelated boys with severe infections and conical teeth. 5
15833888 2005
30
Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). 5
11179023 2001
31
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. 57
10839543 2000
32
Familial linear and whorled nevoid hypermelanosis. 5
8169255 1994
33
Critical Roles of NF-κB Signaling Molecules in Bone Metabolism Revealed by Genetic Mutations in Osteopetrosis. 62
35887342 2022
34
Smooth muscle cell specific NEMO deficiency inhibits atherosclerosis in ApoE-/- mice. 62
35869246 2022
35
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency. 62
35028801 2022
36
Nemo-Dependent, ATM-Mediated Signals from RAG DNA Breaks at Igk Feedback Inhibit Vκ Recombination to Enforce Igκ Allelic Exclusion. 62
34965965 2022
37
A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response. 62
35005117 2022
38
Management of COVID-19 pneumonia in a child with NEMO deficiency. 62
34061330 2021
39
EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation. 62
33598805 2021
40
Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases. 62
33527309 2021
41
Myeloid NEMO deficiency promotes tumor immunosuppression partly via MCP1-CCR2 axis. 62
33428904 2021
42
Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy. 62
33446255 2021
43
Immune transcriptomes of highly exposed SARS-CoV-2 asymptomatic seropositive versus seronegative individuals from the Ischgl community. 62
32995765 2020
44
Immune transcriptomes of highly exposed SARS-CoV-2 asymptomatic seropositive versus seronegative individuals from the Ischgl community. 62
32908998 2020
45
DISSEMINATED BACILLUS-CALMETTE-GUÉRIN INFECTIONS AND PRIMARY IMMUNODEFICIENCY DISORDERS IN SINGAPORE: A SINGLE CENTER 15-YEAR RETROSPECTIVE REVIEW. 62
32497805 2020
46
Successful Allogeneic Stem Cell Transplantation in Nuclear Factor-Kappa B Essential Modulator Deficiency Syndrome After Treosulfan-Based Conditioning: A Case Report. 62
32035679 2020
47
Infliximab therapy for inflammatory colitis in an infant with NEMO deficiency. 62
31713830 2019
48
TNF receptor signalling in autoinflammatory diseases. 62
30838383 2019
49
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency. 62
30422821 2019
50
XL-EDA-ID Presenting with Congenital Duodenal Atresia and Perforations. 62
30146668 2018

Variations for Ectodermal Dysplasia and Immunodeficiency 1

ClinVar genetic disease variations for Ectodermal Dysplasia and Immunodeficiency 1:

5 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IKBKG NM_001099857.5(IKBKG):c.1171G>T (p.Glu391Ter) SNV Pathogenic
11453 rs137853324 GRCh37: X:153792587-153792587
GRCh38: X:154564372-154564372
2 IKBKG NM_001099857.5(IKBKG):c.1249T>C (p.Cys417Arg) SNV Pathogenic
11454 rs137853325 GRCh37: X:153792665-153792665
GRCh38: X:154564450-154564450
3 IKBKG NM_001099857.5(IKBKG):c.1250G>T (p.Cys417Phe) SNV Pathogenic
11456 rs137853326 GRCh37: X:153792666-153792666
GRCh38: X:154564451-154564451
4 IKBKG NM_001099857.5(IKBKG):c.458T>G (p.Leu153Arg) SNV Pathogenic
11460 rs137853328 GRCh37: X:153786805-153786805
GRCh38: X:154558590-154558590
5 IKBKG NM_001099857.5(IKBKG):c.1207C>T (p.Gln403Ter) SNV Pathogenic
11461 rs137853329 GRCh37: X:153792623-153792623
GRCh38: X:154564408-154564408
6 IKBKG NM_001099857.5(IKBKG):c.768+5G>A SNV Pathogenic
11462 rs1569556603 GRCh37: X:153790004-153790004
GRCh38: X:154561789-154561789
7 IKBKG NM_001099857.5(IKBKG):c.863C>G (p.Ala288Gly) SNV Pathogenic
11466 rs137853330 GRCh37: X:153791119-153791119
GRCh38: X:154562904-154562904
8 IKBKG NM_001099857.5(IKBKG):c.1049dup (p.Ala351fs) DUP Pathogenic
11463 GRCh37: X:153791909-153791910
GRCh38: X:154563694-154563695
9 overlap with 117 genes DEL Pathogenic
1684654 GRCh37:
GRCh38: X:153427468-156004919
10 IKBKG NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) DUP Pathogenic
372387 rs782178147 GRCh37: X:153792576-153792577
GRCh38: X:154564361-154564362
11 IKBKG NG_009896.1:g.19984_24446dup DUP Pathogenic
11459 GRCh37: X:153785441-153785442
GRCh38: X:154558768-154560134
12 IKBKG NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln) SNV Pathogenic/Likely Pathogenic
430903 rs782604431 GRCh37: X:153780402-153780402
GRCh38: X:154552187-154552187
13 IKBKG NM_001099857.5(IKBKG):c.931G>A (p.Asp311Asn) SNV Likely Pathogenic
68239 rs179363867 GRCh37: X:153791792-153791792
GRCh38: X:154563577-154563577
14 IKBKG NM_001099857.5(IKBKG):c.470A>C (p.Gln157Pro) SNV Likely Pathogenic
36382 rs386134240 GRCh37: X:153786817-153786817
GRCh38: X:154558602-154558602
15 IKBKG NM_001099857.5(IKBKG):c.262GAG[1] (p.Glu89del) MICROSAT Likely Pathogenic
36380 rs386134238 GRCh37: X:153784453-153784455
GRCh38: X:154556238-154556240
16 IKBKG NM_001099857.5(IKBKG):c.399+19G>C SNV Uncertain Significance
36381 rs386134239 GRCh37: X:153784610-153784610
GRCh38: X:154556395-154556395
17 IKBKG NM_001099857.5(IKBKG):c.518+7C>T SNV Uncertain Significance
36383 rs386134241 GRCh37: X:153786872-153786872
GRCh38: X:154558657-154558657
18 IKBKG NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly) SNV Uncertain Significance
1527844 GRCh37: X:153789991-153789991
GRCh38: X:154561776-154561776
19 IKBKG NM_001099857.5(IKBKG):c.399+6C>T SNV Uncertain Significance
1342446 GRCh37: X:153784597-153784597
GRCh38: X:154556382-154556382
20 G6PD, IKBKG NM_001360016.2(G6PD):c.120+3646C>T SNV Uncertain Significance
625962 rs782367664 GRCh37: X:153770605-153770605
GRCh38: X:154542390-154542390
21 IKBKG NM_001099857.5(IKBKG):c.1056-6= SNV Uncertain Significance
36379 rs5945206 GRCh37: X:153792168-153792168
GRCh38: X:154563953-154563953
22 IKBKG NM_001099857.5(IKBKG):c.1056-18C>T SNV Uncertain Significance
36378 rs386134237 GRCh37: X:153792156-153792156
GRCh38: X:154563941-154563941
23 G6PD, IKBKG NM_001360016.2(G6PD):c.120+3625G>A SNV Likely Benign
1699101 GRCh37: X:153770626-153770626
GRCh38: X:154542411-154542411

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

GO Terms for Ectodermal Dysplasia and Immunodeficiency 1

Sources for Ectodermal Dysplasia and Immunodeficiency 1

2 CDC
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10 DGIdb
16 EFO
17 ExPASy
18 FMA
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27 GO
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29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
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70 Tocris
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72 UMLS via Orphanet
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