ADEDAID
MCID: ECT106
MIFTS: 23

Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant (ADEDAID)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency,...

MalaCards integrated aliases for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant:

Name: Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant 57 29 6
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency 57 13
Dysplasia, Ectodermal, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant 40
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency Autosomal Dominant 75
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 73
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 75
Adedaid 75
Hed-Id 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency,...

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant, also known as ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, is related to ectodermal dysplasia, hypohidrotic, with immune deficiency and hypohidrotic ectodermal dysplasia with immunodeficiency. An important gene associated with Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant is NFKBIA (NFKB Inhibitor Alpha). Affiliated tissues include t cells, and related phenotypes are frontal bossing and recurrent respiratory infections

OMIM : 57 Mutations in the NFKBIA gene result in functional impairment of NFKB1 (164011), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007). (612132)

Related Diseases for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency,...

Diseases related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia, hypohidrotic, with immune deficiency 11.7
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, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant:



Diseases related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant

Symptoms & Phenotypes for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency,...

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 32 HP:0002007
2 recurrent respiratory infections 32 HP:0002205
3 concave nasal ridge 32 HP:0011120
4 hypohidrosis 32 HP:0000966
5 hypodontia 32 HP:0000668
6 sparse hair 32 HP:0008070
7 anhidrosis 32 HP:0000970
8 conical tooth 32 HP:0000698
9 heat intolerance 32 HP:0002046
10 recurrent infection of the gastrointestinal tract 32 HP:0004798
11 anhidrotic ectodermal dysplasia 32 HP:0007476
12 aplasia of the sweat glands 32 HP:0011136
13 defective production of nfkb1-dependent cytokines 32 HP:0011114

Drugs & Therapeutics for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency,...

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant

Genetic Tests for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency,...

Genetic tests related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant 29 NFKBIA

Anatomical Context for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency,...

MalaCards organs/tissues related to Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant:

41
T Cells

Publications for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency,...

Variations for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency,...

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant:

75
# Symbol AA change Variation ID SNP ID
1 NFKBIA p.Ser32Ile VAR_034871 rs28933100

ClinVar genetic disease variations for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant:

6 (show top 50) (show all 76)
# 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

Expression for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency,...

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Pathways for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency,...

GO Terms for Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency,...

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