EDAID2
MCID: ECT109
MIFTS: 29

Ectodermal Dysplasia and Immunodeficiency 2 (EDAID2)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Ectodermal Dysplasia and Immunodeficiency 2

MalaCards integrated aliases for Ectodermal Dysplasia and Immunodeficiency 2:

Name: Ectodermal Dysplasia and Immunodeficiency 2 57 72 29 6
Edaid2 57 72
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant 57
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency Autosomal Dominant 72
Ectodermal Dysplasia, Hypohidrotic, with Immunodeficiency 2 57
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 70
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency 2 57
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 72
Dysplasia, Ectodermal, and Immunodeficiency, Type 2 39
Hed-Id 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
see also the x-linked form


HPO:

31
ectodermal dysplasia and immunodeficiency 2:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM® 57 612132
OMIM Phenotypic Series 57 PS300291
MeSH 44 D004476
MedGen 41 C2677481
UMLS 70 C1846006

Summaries for Ectodermal Dysplasia and Immunodeficiency 2

OMIM® : 57 EDAID2 is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity (summary by Boisson et al., 2017). Mutations in the NFKBIA gene result in functional impairment of NFKB (see 164011), a master transcription factor required for normal activation of immune responses. Interruption of NFKB signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007). For discussion of genetic heterogeneity of ectodermal dysplasia and immune deficiency, see 300291. (612132) (Updated 20-May-2021)

MalaCards based summary : Ectodermal Dysplasia and Immunodeficiency 2, also known as edaid2, is related to ectodermal dysplasia and immunodeficiency 1 and hypohidrotic ectodermal dysplasia with immunodeficiency. An important gene associated with Ectodermal Dysplasia and Immunodeficiency 2 is NFKBIA (NFKB Inhibitor Alpha). Affiliated tissues include b cells, and related phenotypes are frontal bossing and recurrent respiratory infections

UniProtKB/Swiss-Prot : 72 Ectodermal dysplasia and immunodeficiency 2: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. EDAID2 inheritance is autosomal dominant.

Related Diseases for Ectodermal Dysplasia and Immunodeficiency 2

Diseases related to Ectodermal Dysplasia and Immunodeficiency 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia and immunodeficiency 1 11.5
2 hypohidrotic ectodermal dysplasia with immunodeficiency 11.2
3 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.2
4 immune deficiency disease 10.2
5 incontinentia pigmenti 10.2
6 ectodermal dysplasia 10.2
7 osteopetrosis 10.1

Graphical network of the top 20 diseases related to Ectodermal Dysplasia and Immunodeficiency 2:



Diseases related to Ectodermal Dysplasia and Immunodeficiency 2

Symptoms & Phenotypes for Ectodermal Dysplasia and Immunodeficiency 2

Human phenotypes related to Ectodermal Dysplasia and Immunodeficiency 2:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 HP:0002007
2 recurrent respiratory infections 31 HP:0002205
3 hypohidrosis 31 HP:0000966
4 hypodontia 31 HP:0000668
5 sparse hair 31 HP:0008070
6 anhidrosis 31 HP:0000970
7 aplasia of the sweat glands 31 HP:0011136
8 conical tooth 31 HP:0000698
9 heat intolerance 31 HP:0002046
10 concave nasal ridge 31 HP:0011120
11 recurrent infection of the gastrointestinal tract 31 HP:0004798
12 anhidrotic ectodermal dysplasia 31 HP:0007476
13 defective production of nfkb1-dependent cytokines 31 HP:0011114

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
frontal bossing

Head And Neck Teeth:
hypodontia
conical teeth

Head And Neck Nose:
saddle nose

Abdomen Gastrointestinal:
gastrointestinal infections, recurrent

Skin Nails Hair Skin:
hypohidrosis
anhidrosis
heat intolerance
lack of sweat glands
cutaneous candidiasis

Immunology:
recurrent infections
low or normal serum immunoglobulins
defective production of nfkb1-dependent cytokines by white blood cells
impaired immune responses

Respiratory:
respiratory infections, recurrent

Skin Nails Hair Hair:
light, sparse hair

Clinical features from OMIM®:

612132 (Updated 20-May-2021)

Drugs & Therapeutics for Ectodermal Dysplasia and Immunodeficiency 2

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia and Immunodeficiency 2

Genetic Tests for Ectodermal Dysplasia and Immunodeficiency 2

Genetic tests related to Ectodermal Dysplasia and Immunodeficiency 2:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia and Immunodeficiency 2 29 NFKBIA

Anatomical Context for Ectodermal Dysplasia and Immunodeficiency 2

MalaCards organs/tissues related to Ectodermal Dysplasia and Immunodeficiency 2:

40
B Cells

Publications for Ectodermal Dysplasia and Immunodeficiency 2

Articles related to Ectodermal Dysplasia and Immunodeficiency 2:

(show all 28)
# Title Authors PMID Year
1
IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. 57 6
29948576 2018
2
Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. 6 57
28417298 2017
3
Anhidrotic ectodermal dysplasia: a new mutation. 57 6
23870671 2013
4
Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation. 57 6
23864385 2013
5
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. 6 57
23708964 2013
6
A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. 57 6
18412279 2008
7
Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. 57 6
17931563 2007
8
The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. 57 6
15337789 2004
9
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. 6 57
14523047 2003
10
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. 57
28597146 2017
11
Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. 6
26888281 2016
12
Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. 57
26691317 2016
13
Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency. 57
16769798 2006
14
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. 61
27411570 2016
15
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
16
Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections. 61
23405946 2014
17
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). 61
20499091 2010
18
The zinc finger domain of IKKγ (NEMO) protein in health and disease. 61
20345847 2010
19
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
20
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
21
Preimplantation diagnosis for immunodeficiencies. 61
17298726 2007
22
Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected]. 61
16547522 2006
23
A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. 61
16228229 2005
24
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
25
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. 61
12045264 2002
26
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). 61
11484156 2001
27
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. 61
11241484 2001
28
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). 61
11047757 2000

Variations for Ectodermal Dysplasia and Immunodeficiency 2

ClinVar genetic disease variations for Ectodermal Dysplasia and Immunodeficiency 2:

6 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NFKBIA NM_020529.2(NFKBIA):c.95G>T (p.Ser32Ile) SNV Pathogenic 14003 rs28933100 GRCh37: 14:35873756-35873756
GRCh38: 14:35404550-35404550
2 NFKBIA NM_020529.2(NFKBIA):c.32G>A (p.Trp11Ter) SNV Pathogenic 14004 rs121913664 GRCh37: 14:35873819-35873819
GRCh38: 14:35404613-35404613
3 NFKBIA NM_020529.2(NFKBIA):c.40G>T (p.Glu14Ter) SNV Pathogenic 14005 rs121913665 GRCh37: 14:35873811-35873811
GRCh38: 14:35404605-35404605
4 NFKBIA NM_020529.2(NFKBIA):c.110T>A (p.Met37Lys) SNV Pathogenic 590307 rs1566591073 GRCh37: 14:35873741-35873741
GRCh38: 14:35404535-35404535
5 NFKBIA NM_020529.2(NFKBIA):c.107C>A (p.Ser36Tyr) SNV Pathogenic 590308 rs1566591076 GRCh37: 14:35873744-35873744
GRCh38: 14:35404538-35404538
6 NFKBIA NM_020529.2(NFKBIA):c.94A>G (p.Ser32Gly) SNV Pathogenic 590309 rs1566591086 GRCh37: 14:35873757-35873757
GRCh38: 14:35404551-35404551
7 NFKBIA NM_020529.2(NFKBIA):c.96C>G (p.Ser32Arg) SNV Pathogenic 590310 rs1566591082 GRCh37: 14:35873755-35873755
GRCh38: 14:35404549-35404549
8 NFKBIA NM_020529.2(NFKBIA):c.95G>A (p.Ser32Asn) SNV Pathogenic 590311 rs28933100 GRCh37: 14:35873756-35873756
GRCh38: 14:35404550-35404550
9 NFKBIA NM_020529.2(NFKBIA):c.337-3T>C SNV Conflicting interpretations of pathogenicity 576934 rs756930611 GRCh37: 14:35872569-35872569
GRCh38: 14:35403363-35403363
10 NFKBIA NM_020529.2(NFKBIA):c.554C>T (p.Thr185Met) SNV Conflicting interpretations of pathogenicity 313111 rs142195196 GRCh37: 14:35872059-35872059
GRCh38: 14:35402853-35402853
11 NFKBIA NM_020529.2(NFKBIA):c.*366G>A SNV Uncertain significance 313100 rs552418731 GRCh37: 14:35870853-35870853
GRCh38: 14:35401647-35401647
12 NFKBIA NM_020529.2(NFKBIA):c.379G>A (p.Ala127Thr) SNV Uncertain significance 313114 rs377380656 GRCh37: 14:35872524-35872524
GRCh38: 14:35403318-35403318
13 NFKBIA NM_020529.2(NFKBIA):c.-80C>T SNV Uncertain significance 313121 rs886050476 GRCh37: 14:35873930-35873930
GRCh38: 14:35404724-35404724
14 NFKBIA NM_020529.2(NFKBIA):c.437C>T (p.Thr146Ile) SNV Uncertain significance 583048 rs753691609 GRCh37: 14:35872466-35872466
GRCh38: 14:35403260-35403260
15 NFKBIA NM_020529.2(NFKBIA):c.847A>T (p.Ser283Cys) SNV Uncertain significance 565672 rs989569540 GRCh37: 14:35871659-35871659
GRCh38: 14:35402453-35402453
16 NFKBIA NM_020529.2(NFKBIA):c.810C>T (p.Gly270=) SNV Uncertain significance 567681 rs983972574 GRCh37: 14:35871696-35871696
GRCh38: 14:35402490-35402490
17 NFKBIA NM_020529.2(NFKBIA):c.*302A>C SNV Uncertain significance 313101 rs886050475 GRCh37: 14:35870917-35870917
GRCh38: 14:35401711-35401711
18 NFKBIA NM_020529.2(NFKBIA):c.547+10C>T SNV Uncertain significance 313113 rs201614038 GRCh37: 14:35872346-35872346
GRCh38: 14:35403140-35403140
19 NFKBIA NM_020529.2(NFKBIA):c.228-3C>T SNV Uncertain significance 469609 rs374251732 GRCh37: 14:35873007-35873007
GRCh38: 14:35403801-35403801
20 NFKBIA NM_020529.2(NFKBIA):c.936C>T (p.Gly312=) SNV Uncertain significance 469610 rs1250939805 GRCh37: 14:35871237-35871237
GRCh38: 14:35402031-35402031
21 NFKBIA NM_020529.2(NFKBIA):c.368A>G (p.Gln123Arg) SNV Uncertain significance 648247 rs142422402 GRCh37: 14:35872535-35872535
GRCh38: 14:35403329-35403329
22 NFKBIA NM_020529.2(NFKBIA):c.790C>T (p.Arg264Trp) SNV Uncertain significance 649160 rs747273949 GRCh37: 14:35871716-35871716
GRCh38: 14:35402510-35402510
23 NFKBIA NM_020529.2(NFKBIA):c.549C>T (p.Gly183=) SNV Uncertain significance 652039 rs769491611 GRCh37: 14:35872064-35872064
GRCh38: 14:35402858-35402858
24 NFKBIA NM_020529.3(NFKBIA):c.682C>G (p.Gln228Glu) SNV Uncertain significance 839804 GRCh37: 14:35871824-35871824
GRCh38: 14:35402618-35402618
25 NFKBIA NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu) SNV Uncertain significance 841041 GRCh37: 14:35873672-35873672
GRCh38: 14:35404466-35404466
26 NFKBIA NM_020529.3(NFKBIA):c.283C>T (p.Arg95Cys) SNV Uncertain significance 841632 GRCh37: 14:35872949-35872949
GRCh38: 14:35403743-35403743
27 NFKBIA NM_020529.3(NFKBIA):c.52G>A (p.Asp18Asn) SNV Uncertain significance 842008 GRCh37: 14:35873799-35873799
GRCh38: 14:35404593-35404593
28 NFKBIA NM_020529.3(NFKBIA):c.209T>C (p.Leu70Pro) SNV Uncertain significance 844597 GRCh37: 14:35873642-35873642
GRCh38: 14:35404436-35404436
29 NFKBIA NM_020529.3(NFKBIA):c.299A>G (p.Asp100Gly) SNV Uncertain significance 853953 GRCh37: 14:35872933-35872933
GRCh38: 14:35403727-35403727
30 NFKBIA NM_020529.3(NFKBIA):c.326A>G (p.Asn109Ser) SNV Uncertain significance 858355 GRCh37: 14:35872906-35872906
GRCh38: 14:35403700-35403700
31 NFKBIA NM_020529.3(NFKBIA):c.879_887del (p.295_297FTE[1]) Deletion Uncertain significance 859175 GRCh37: 14:35871619-35871627
GRCh38: 14:35402413-35402421
32 NFKBIA NM_020529.3(NFKBIA):c.911C>G (p.Pro304Arg) SNV Uncertain significance 881430 GRCh37: 14:35871262-35871262
GRCh38: 14:35402056-35402056
33 NFKBIA NM_020529.3(NFKBIA):c.111G>A (p.Met37Ile) SNV Uncertain significance 934970 GRCh37: 14:35873740-35873740
GRCh38: 14:35404534-35404534
34 NFKBIA NM_020529.3(NFKBIA):c.888_896del (p.295FTE[1]) Deletion Uncertain significance 936184 GRCh37: 14:35871610-35871618
GRCh38: 14:35402404-35402412
35 NFKBIA NM_020529.3(NFKBIA):c.341C>T (p.Pro114Leu) SNV Uncertain significance 945324 GRCh37: 14:35872562-35872562
GRCh38: 14:35403356-35403356
36 NFKBIA NM_020529.3(NFKBIA):c.940C>T (p.Arg314Cys) SNV Uncertain significance 945894 GRCh37: 14:35871233-35871233
GRCh38: 14:35402027-35402027
37 NFKBIA NM_020529.3(NFKBIA):c.477C>A (p.Ser159Arg) SNV Uncertain significance 946213 GRCh37: 14:35872426-35872426
GRCh38: 14:35403220-35403220
38 NFKBIA NM_020529.3(NFKBIA):c.188C>T (p.Ser63Leu) SNV Uncertain significance 951666 GRCh37: 14:35873663-35873663
GRCh38: 14:35404457-35404457
39 NFKBIA NM_020529.3(NFKBIA):c.117C>G (p.Asp39Glu) SNV Uncertain significance 964009 GRCh37: 14:35873734-35873734
GRCh38: 14:35404528-35404528
40 NFKBIA NM_020529.3(NFKBIA):c.283C>G (p.Arg95Gly) SNV Uncertain significance 969546 GRCh37: 14:35872949-35872949
GRCh38: 14:35403743-35403743
41 NFKBIA NM_020529.3(NFKBIA):c.220G>C (p.Gly74Arg) SNV Uncertain significance 1001126 GRCh37: 14:35873631-35873631
GRCh38: 14:35404425-35404425
42 NFKBIA NM_020529.3(NFKBIA):c.247A>G (p.Ile83Val) SNV Uncertain significance 1003140 GRCh37: 14:35872985-35872985
GRCh38: 14:35403779-35403779
43 NFKBIA NM_020529.3(NFKBIA):c.337-20G>A SNV Uncertain significance 1033535 GRCh37: 14:35872586-35872586
GRCh38: 14:35403380-35403380
44 NFKBIA NM_020529.3(NFKBIA):c.194C>T (p.Pro65Leu) SNV Uncertain significance 1046950 GRCh37: 14:35873657-35873657
GRCh38: 14:35404451-35404451
45 NFKBIA NM_020529.2(NFKBIA):c.110T>G (p.Met37Arg) SNV Uncertain significance 590306 rs1566591073 GRCh37: 14:35873741-35873741
GRCh38: 14:35404535-35404535
46 NFKBIA NM_020529.3(NFKBIA):c.-42G>T SNV Uncertain significance 883037 GRCh37: 14:35873892-35873892
GRCh38: 14:35404686-35404686
47 NFKBIA NM_020529.3(NFKBIA):c.-73C>A SNV Uncertain significance 883038 GRCh37: 14:35873923-35873923
GRCh38: 14:35404717-35404717
48 NFKBIA NM_020529.3(NFKBIA):c.*252T>G SNV Uncertain significance 883768 GRCh37: 14:35870967-35870967
GRCh38: 14:35401761-35401761
49 NFKBIA NM_020529.3(NFKBIA):c.*102T>G SNV Uncertain significance 883769 GRCh37: 14:35871117-35871117
GRCh38: 14:35401911-35401911
50 NFKBIA NM_020529.3(NFKBIA):c.131A>G (p.Gln44Arg) SNV Uncertain significance 881869 GRCh37: 14:35873720-35873720
GRCh38: 14:35404514-35404514

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia and Immunodeficiency 2:

72
# Symbol AA change Variation ID SNP ID
1 NFKBIA p.Ser32Ile VAR_034871 rs28933100

Expression for Ectodermal Dysplasia and Immunodeficiency 2

Search GEO for disease gene expression data for Ectodermal Dysplasia and Immunodeficiency 2.

Pathways for Ectodermal Dysplasia and Immunodeficiency 2

GO Terms for Ectodermal Dysplasia and Immunodeficiency 2

Sources for Ectodermal Dysplasia and Immunodeficiency 2

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