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ADEDAID
MCID: ECT109
MIFTS: 26

Ectodermal Dysplasia and Immunodeficiency 2 (ADEDAID)

Categories: Genetic diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Ectodermal Dysplasia and Immunodeficiency 2

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MalaCards integrated aliases for Ectodermal Dysplasia and Immunodeficiency 2:

Name: Ectodermal Dysplasia and Immunodeficiency 2 58
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant 58 30 6
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency Autosomal Dominant 76
Ectodermal Dysplasia, Hypohidrotic, with Immunodeficiency 2 58
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency 2 58
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 76
Dysplasia, Ectodermal, and Immunodeficiency, Type 2 41
Adedaid 76
Edaid2 58
Hed-Id 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
ectodermal dysplasia and immunodeficiency 2:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases
See all MalaCards categories (disease lists)


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Summaries for Ectodermal Dysplasia and Immunodeficiency 2

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OMIM : 58 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)

MalaCards based summary : Ectodermal Dysplasia and Immunodeficiency 2, also known as ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant, 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 t cells, and related phenotypes are frontal bossing and recurrent respiratory infections

UniProtKB/Swiss-Prot : 76 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant: 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.

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Related Diseases for Ectodermal Dysplasia and Immunodeficiency 2

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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 12.0
2 hypohidrotic ectodermal dysplasia with immunodeficiency 11.4
3 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.4
4 ectodermal dysplasia 10.4
5 osteopetrosis 10.3

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



Diseases related to Ectodermal Dysplasia and Immunodeficiency 2
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Symptoms & Phenotypes for Ectodermal Dysplasia and Immunodeficiency 2

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Human phenotypes related to Ectodermal Dysplasia and Immunodeficiency 2:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 33 HP:0002007
2 recurrent respiratory infections 33 HP:0002205
3 concave nasal ridge 33 HP:0011120
4 hypohidrosis 33 HP:0000966
5 hypodontia 33 HP:0000668
6 sparse hair 33 HP:0008070
7 anhidrosis 33 HP:0000970
8 recurrent infection of the gastrointestinal tract 33 HP:0004798
9 conical tooth 33 HP:0000698
10 heat intolerance 33 HP:0002046
11 anhidrotic ectodermal dysplasia 33 HP:0007476
12 aplasia of the sweat glands 33 HP:0011136
13 defective production of nfkb1-dependent cytokines 33 HP:0011114

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
frontal bossing

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

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

Head And Neck Teeth:
hypodontia
conical teeth

Respiratory:
respiratory infections, recurrent

Skin Nails Hair Hair:
light, sparse hair

Clinical features from OMIM:

612132
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Drugs & Therapeutics for Ectodermal Dysplasia and Immunodeficiency 2

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

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Genetic Tests for Ectodermal Dysplasia and Immunodeficiency 2

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Genetic tests related to Ectodermal Dysplasia and Immunodeficiency 2:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant 30 NFKBIA
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Anatomical Context for Ectodermal Dysplasia and Immunodeficiency 2

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

42
T Cells
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Publications for Ectodermal Dysplasia and Immunodeficiency 2

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Articles related to Ectodermal Dysplasia and Immunodeficiency 2:

# Title Authors Year
1
IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. ( 29948576 )
2018
2
Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. ( 28417298 )
2017
3
Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. ( 26888281 )
2016
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. ( 23864385 )
2013
5
Anhidrotic ectodermal dysplasia: a new mutation. ( 23870671 )
2013
6
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. ( 23708964 )
2013
7
A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. ( 18412279 )
2008
8
Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. ( 17931563 )
2007
9
The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. ( 15337789 )
2004
10
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. ( 14523047 )
2003
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Variations for Ectodermal Dysplasia and Immunodeficiency 2

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

76
# Symbol AA change Variation ID SNP ID
1 NFKBIA p.Ser32Ile VAR_034871 rs28933100

ClinVar genetic disease variations for Ectodermal Dysplasia and Immunodeficiency 2:

6 (show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 NFKBIA NM_020529.2(NFKBIA): c.95G> T (p.Ser32Ile) single nucleotide variant Pathogenic rs28933100 GRCh37 Chromosome 14, 35873756: 35873756
2 NFKBIA NM_020529.2(NFKBIA): c.95G> T (p.Ser32Ile) single nucleotide variant Pathogenic rs28933100 GRCh38 Chromosome 14, 35404550: 35404550
3 NFKBIA NM_020529.2(NFKBIA): c.32G> A (p.Trp11Ter) single nucleotide variant Pathogenic rs121913664 GRCh37 Chromosome 14, 35873819: 35873819
4 NFKBIA NM_020529.2(NFKBIA): c.32G> A (p.Trp11Ter) single nucleotide variant Pathogenic rs121913664 GRCh38 Chromosome 14, 35404613: 35404613
5 NFKBIA NM_020529.2(NFKBIA): c.40G> T (p.Glu14Ter) single nucleotide variant Pathogenic rs121913665 GRCh37 Chromosome 14, 35873811: 35873811
6 NFKBIA NM_020529.2(NFKBIA): c.40G> T (p.Glu14Ter) single nucleotide variant Pathogenic rs121913665 GRCh38 Chromosome 14, 35404605: 35404605
7 NFKBIA NM_020529.2(NFKBIA): c.*263G> T single nucleotide variant Likely benign rs11569620 GRCh38 Chromosome 14, 35401750: 35401750
8 NFKBIA NM_020529.2(NFKBIA): c.*263G> T single nucleotide variant Likely benign rs11569620 GRCh37 Chromosome 14, 35870956: 35870956
9 NFKBIA NM_020529.2(NFKBIA): c.*195C> T single nucleotide variant Likely benign rs182929073 GRCh38 Chromosome 14, 35401818: 35401818
10 NFKBIA NM_020529.2(NFKBIA): c.*195C> T single nucleotide variant Likely benign rs182929073 GRCh37 Chromosome 14, 35871024: 35871024
11 NFKBIA NM_020529.2(NFKBIA): c.894C> T (p.Phe298=) single nucleotide variant Uncertain significance rs777020702 GRCh38 Chromosome 14, 35402406: 35402406
12 NFKBIA NM_020529.2(NFKBIA): c.894C> T (p.Phe298=) single nucleotide variant Uncertain significance rs777020702 GRCh37 Chromosome 14, 35871612: 35871612
13 NFKBIA NM_020529.2(NFKBIA): c.581G> C (p.Gly194Ala) single nucleotide variant Benign/Likely benign rs148656104 GRCh38 Chromosome 14, 35402826: 35402826
14 NFKBIA NM_020529.2(NFKBIA): c.581G> C (p.Gly194Ala) single nucleotide variant Benign/Likely benign rs148656104 GRCh37 Chromosome 14, 35872032: 35872032
15 NFKBIA NM_020529.2(NFKBIA): c.548-3C> T single nucleotide variant Benign/Likely benign rs2233418 GRCh38 Chromosome 14, 35402862: 35402862
16 NFKBIA NM_020529.2(NFKBIA): c.548-3C> T single nucleotide variant Benign/Likely benign rs2233418 GRCh37 Chromosome 14, 35872068: 35872068
17 NFKBIA NM_020529.2(NFKBIA): c.306C> T (p.Ala102=) single nucleotide variant Benign rs1050851 GRCh38 Chromosome 14, 35403720: 35403720
18 NFKBIA NM_020529.2(NFKBIA): c.306C> T (p.Ala102=) single nucleotide variant Benign rs1050851 GRCh37 Chromosome 14, 35872926: 35872926
19 NFKBIA NM_020529.2(NFKBIA): c.-87_-80dupGTCCCGCC duplication Likely benign rs540103354 GRCh38 Chromosome 14, 35404724: 35404731
20 NFKBIA NM_020529.2(NFKBIA): c.-87_-80dupGTCCCGCC duplication Likely benign rs540103354 GRCh37 Chromosome 14, 35873930: 35873937
21 NFKBIA NM_020529.2(NFKBIA): c.*302A> C single nucleotide variant Uncertain significance rs886050475 GRCh38 Chromosome 14, 35401711: 35401711
22 NFKBIA NM_020529.2(NFKBIA): c.*302A> C single nucleotide variant Uncertain significance rs886050475 GRCh37 Chromosome 14, 35870917: 35870917
23 NFKBIA NM_020529.2(NFKBIA): c.*2C> T single nucleotide variant Benign rs8904 GRCh38 Chromosome 14, 35402011: 35402011
24 NFKBIA NM_020529.2(NFKBIA): c.*2C> T single nucleotide variant Benign rs8904 GRCh37 Chromosome 14, 35871217: 35871217
25 NFKBIA NM_020529.2(NFKBIA): c.243C> T (p.Ala81=) single nucleotide variant Benign/Likely benign rs2233412 GRCh38 Chromosome 14, 35403783: 35403783
26 NFKBIA NM_020529.2(NFKBIA): c.243C> T (p.Ala81=) single nucleotide variant Benign/Likely benign rs2233412 GRCh37 Chromosome 14, 35872989: 35872989
27 NFKBIA NM_020529.2(NFKBIA): c.81C> T (p.Asp27=) single nucleotide variant Benign rs1957106 GRCh38 Chromosome 14, 35404564: 35404564
28 NFKBIA NM_020529.2(NFKBIA): c.81C> T (p.Asp27=) single nucleotide variant Benign rs1957106 GRCh37 Chromosome 14, 35873770: 35873770
29 NFKBIA NM_020529.2(NFKBIA): c.-66G> A single nucleotide variant Likely benign rs2273651 GRCh38 Chromosome 14, 35404710: 35404710
30 NFKBIA NM_020529.2(NFKBIA): c.-66G> A single nucleotide variant Likely benign rs2273651 GRCh37 Chromosome 14, 35873916: 35873916
31 NFKBIA NM_020529.2(NFKBIA): c.-80C> T single nucleotide variant Uncertain significance rs886050476 GRCh38 Chromosome 14, 35404724: 35404724
32 NFKBIA NM_020529.2(NFKBIA): c.-80C> T single nucleotide variant Uncertain significance rs886050476 GRCh37 Chromosome 14, 35873930: 35873930
33 NFKBIA NM_020529.2(NFKBIA): c.*421G> A single nucleotide variant Benign rs2273650 GRCh38 Chromosome 14, 35401592: 35401592
34 NFKBIA NM_020529.2(NFKBIA): c.*421G> A single nucleotide variant Benign rs2273650 GRCh37 Chromosome 14, 35870798: 35870798
35 NFKBIA NM_020529.2(NFKBIA): c.*366G> A single nucleotide variant Uncertain significance rs552418731 GRCh38 Chromosome 14, 35401647: 35401647
36 NFKBIA NM_020529.2(NFKBIA): c.*366G> A single nucleotide variant Uncertain significance rs552418731 GRCh37 Chromosome 14, 35870853: 35870853
37 NFKBIA NM_020529.2(NFKBIA): c.*142_*143dupTT duplication Likely benign rs11569610 GRCh38 Chromosome 14, 35401870: 35401871
38 NFKBIA NM_020529.2(NFKBIA): c.*142_*143dupTT duplication Likely benign rs11569610 GRCh37 Chromosome 14, 35871076: 35871077
39 NFKBIA NM_020529.2(NFKBIA): c.547+10C> T single nucleotide variant Likely benign rs201614038 GRCh38 Chromosome 14, 35403140: 35403140
40 NFKBIA NM_020529.2(NFKBIA): c.547+10C> T single nucleotide variant Likely benign rs201614038 GRCh37 Chromosome 14, 35872346: 35872346
41 NFKBIA NM_020529.2(NFKBIA): c.78G> A (p.Leu26=) single nucleotide variant Likely benign rs8192285 GRCh38 Chromosome 14, 35404567: 35404567
42 NFKBIA NM_020529.2(NFKBIA): c.78G> A (p.Leu26=) single nucleotide variant Likely benign rs8192285 GRCh37 Chromosome 14, 35873773: 35873773
43 NFKBIA NM_020529.2(NFKBIA): c.*126G> A single nucleotide variant Benign rs696 GRCh38 Chromosome 14, 35401887: 35401887
44 NFKBIA NM_020529.2(NFKBIA): c.*126G> A single nucleotide variant Benign rs696 GRCh37 Chromosome 14, 35871093: 35871093
45 NFKBIA NM_020529.2(NFKBIA): c.*81_*83delGAA deletion Benign rs145753299 GRCh38 Chromosome 14, 35401930: 35401932
46 NFKBIA NM_020529.2(NFKBIA): c.*81_*83delGAA deletion Benign rs145753299 GRCh37 Chromosome 14, 35871136: 35871138
47 NFKBIA NM_020529.2(NFKBIA): c.*18G> C single nucleotide variant Likely benign rs9333352 GRCh38 Chromosome 14, 35401995: 35401995
48 NFKBIA NM_020529.2(NFKBIA): c.*18G> C single nucleotide variant Likely benign rs9333352 GRCh37 Chromosome 14, 35871201: 35871201
49 NFKBIA NM_020529.2(NFKBIA): c.554C> T (p.Thr185Met) single nucleotide variant Likely benign rs142195196 GRCh38 Chromosome 14, 35402853: 35402853
50 NFKBIA NM_020529.2(NFKBIA): c.554C> T (p.Thr185Met) single nucleotide variant Likely benign rs142195196 GRCh37 Chromosome 14, 35872059: 35872059
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Expression for Ectodermal Dysplasia and Immunodeficiency 2

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

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GO Terms for Ectodermal Dysplasia and Immunodeficiency 2

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Sources for Ectodermal Dysplasia and Immunodeficiency 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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