MCID: HYP643
MIFTS: 24

Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Categories: Skin diseases, Fetal diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

MalaCards integrated aliases for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

Name: Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 59
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 73
Anhidrotic Ectodermal Dysplasia with Immunodeficiency 59
Hed-Id 59
Eda-Id 59

Characteristics:

Orphanet epidemiological data:

59
hypohidrotic ectodermal dysplasia with immunodeficiency
Inheritance: Autosomal dominant,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA98813
UMLS via Orphanet 74 C1846006
ICD10 via Orphanet 34 D82.8
UMLS 73 C1846006

Summaries for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

MalaCards based summary : Hypohidrotic Ectodermal Dysplasia with Immunodeficiency, also known as ectodermal dysplasia, hypohidrotic, with immune deficiency, is related to ectodermal dysplasia and ectodermal dysplasia, hypohidrotic, with immune deficiency. An important gene associated with Hypohidrotic Ectodermal Dysplasia with Immunodeficiency is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma), and among its related pathways/superpathways are TNFR1 Pathway and Apoptosis Modulation and Signaling. Affiliated tissues include skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

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

# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 28.9 IKBKG NFKBIA
2 ectodermal dysplasia, hypohidrotic, with immune deficiency 11.5
3 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant 11.2
4 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.1
5 t-cell leukemia 9.0 IKBKG NFKBIA

Graphical network of the top 20 diseases related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:



Diseases related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Symptoms & Phenotypes for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

GenomeRNAi Phenotypes related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.28 IKBKG
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.28 NFKBIA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.28 NFKBIA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.28 IKBKG
5 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.28 IKBKG
6 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.28 IKBKG
7 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.28 IKBKG
8 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.28 IKBKG NFKBIA

Drugs & Therapeutics for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Search Clinical Trials , NIH Clinical Center for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Genetic Tests for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Anatomical Context for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

MalaCards organs/tissues related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

41
Skin

Publications for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Articles related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

# Title Authors Year
1
Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency. ( 19663838 )
2009

Variations for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

ClinVar genetic disease variations for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 IKBKG NM_003639.4(IKBKG): c.1171G> T (p.Glu391Ter) single nucleotide variant Pathogenic rs137853324 GRCh37 Chromosome X, 153792587: 153792587
2 IKBKG NM_003639.4(IKBKG): c.1171G> T (p.Glu391Ter) single nucleotide variant Pathogenic rs137853324 GRCh38 Chromosome X, 154564372: 154564372
3 IKBKG NM_003639.4(IKBKG): c.1249T> C (p.Cys417Arg) single nucleotide variant Pathogenic rs137853325 GRCh37 Chromosome X, 153792665: 153792665
4 IKBKG NM_003639.4(IKBKG): c.1249T> C (p.Cys417Arg) single nucleotide variant Pathogenic rs137853325 GRCh38 Chromosome X, 154564450: 154564450
5 IKBKG IKBKG, 1-BP DUP, 1167C duplication Pathogenic
6 IKBKG NM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe) single nucleotide variant Pathogenic rs137853326 GRCh37 Chromosome X, 153792666: 153792666
7 IKBKG NM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe) single nucleotide variant Pathogenic rs137853326 GRCh38 Chromosome X, 154564451: 154564451
8 IKBKG NM_003639.4(IKBKG): c.1217A> T (p.Asp406Val) single nucleotide variant Pathogenic rs137853327 GRCh37 Chromosome X, 153792633: 153792633
9 IKBKG NM_003639.4(IKBKG): c.1217A> T (p.Asp406Val) single nucleotide variant Pathogenic rs137853327 GRCh38 Chromosome X, 154564418: 154564418
10 IKBKG IKBKG, 4.4-KB DUP duplication Pathogenic
11 IKBKG NM_003639.4(IKBKG): c.458T> G (p.Leu153Arg) single nucleotide variant Pathogenic rs137853328 GRCh37 Chromosome X, 153786805: 153786805
12 IKBKG NM_003639.4(IKBKG): c.458T> G (p.Leu153Arg) single nucleotide variant Pathogenic rs137853328 GRCh38 Chromosome X, 154558590: 154558590
13 IKBKG NM_003639.4(IKBKG): c.1207C> T (p.Gln403Ter) single nucleotide variant Pathogenic rs137853329 GRCh37 Chromosome X, 153792623: 153792623
14 IKBKG NM_003639.4(IKBKG): c.1207C> T (p.Gln403Ter) single nucleotide variant Pathogenic rs137853329 GRCh38 Chromosome X, 154564408: 154564408
15 IKBKG IKBKG, IVS6DS, G-A, +5 single nucleotide variant Pathogenic
16 IKBKG IKBKG, 1-BP INS, 1409A insertion Pathogenic
17 IKBKG NM_003639.4(IKBKG): c.265_267delGAG (p.Glu89del) deletion Likely pathogenic rs386134238 GRCh37 Chromosome X, 153784457: 153784459
18 IKBKG NM_003639.4(IKBKG): c.265_267delGAG (p.Glu89del) deletion Likely pathogenic rs386134238 GRCh38 Chromosome X, 154556242: 154556244
19 IKBKG NM_003639.4(IKBKG): c.470A> C (p.Gln157Pro) single nucleotide variant Likely pathogenic rs386134240 GRCh37 Chromosome X, 153786817: 153786817
20 IKBKG NM_003639.4(IKBKG): c.470A> C (p.Gln157Pro) single nucleotide variant Likely pathogenic rs386134240 GRCh38 Chromosome X, 154558602: 154558602
21 IKBKG NM_003639.4(IKBKG): c.931G> A (p.Asp311Asn) single nucleotide variant Likely pathogenic rs179363867 GRCh37 Chromosome X, 153791792: 153791792
22 IKBKG NM_003639.4(IKBKG): c.931G> A (p.Asp311Asn) single nucleotide variant Likely pathogenic rs179363867 GRCh38 Chromosome X, 154563577: 154563577
23 IKBKG NM_003639.4(IKBKG): c.185G> A (p.Arg62Gln) single nucleotide variant Likely pathogenic rs782604431 GRCh38 Chromosome X, 154552187: 154552187
24 IKBKG NM_003639.4(IKBKG): c.185G> A (p.Arg62Gln) single nucleotide variant Likely pathogenic rs782604431 GRCh37 Chromosome X, 153780402: 153780402

Expression for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Search GEO for disease gene expression data for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency.

Pathways for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Pathways related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 IKBKG NFKBIA
2
Show member pathways
12.44 IKBKG NFKBIA
3
Show member pathways
12.42 IKBKG NFKBIA
4
Show member pathways
12.4 IKBKG NFKBIA
5
Show member pathways
12.37 IKBKG NFKBIA
6
Show member pathways
12.34 IKBKG NFKBIA
7
Show member pathways
12.32 IKBKG NFKBIA
8
Show member pathways
12.31 IKBKG NFKBIA
9
Show member pathways
12.31 IKBKG NFKBIA
10
Show member pathways
12.26 IKBKG NFKBIA
11
Show member pathways
12.25 IKBKG NFKBIA
12
Show member pathways
12.25 IKBKG NFKBIA
13
Show member pathways
12.23 IKBKG NFKBIA
14 12.23 IKBKG NFKBIA
15
Show member pathways
12.2 IKBKG NFKBIA
16
Show member pathways
12.16 IKBKG NFKBIA
17
Show member pathways
12.15 IKBKG NFKBIA
18
Show member pathways
12.15 IKBKG NFKBIA
19
Show member pathways
12.12 IKBKG NFKBIA
20
Show member pathways
12.12 IKBKG NFKBIA
21
Show member pathways
12.11 IKBKG NFKBIA
22
Show member pathways
12.11 IKBKG NFKBIA
23
Show member pathways
12.1 IKBKG NFKBIA
24
Show member pathways
12.1 IKBKG NFKBIA
25
Show member pathways
12.1 IKBKG NFKBIA
26
Show member pathways
12.09 IKBKG NFKBIA
27 12.09 IKBKG NFKBIA
28
Show member pathways
12.08 IKBKG NFKBIA
29
Show member pathways
12.06 IKBKG NFKBIA
30
Show member pathways
12.05 IKBKG NFKBIA
31
Show member pathways
12.04 IKBKG NFKBIA
32
Show member pathways
12.01 IKBKG NFKBIA
33
Show member pathways
11.99 IKBKG NFKBIA
34
Show member pathways
11.97 IKBKG NFKBIA
35 11.96 IKBKG NFKBIA
36 11.95 IKBKG NFKBIA
37
Show member pathways
11.93 IKBKG NFKBIA
38
Show member pathways
11.91 IKBKG NFKBIA
39
Show member pathways
11.91 IKBKG NFKBIA
40
Show member pathways
11.88 IKBKG NFKBIA
41
Show member pathways
11.87 IKBKG NFKBIA
42
Show member pathways
11.83 IKBKG NFKBIA
43
Show member pathways
11.79 IKBKG NFKBIA
44 11.76 IKBKG NFKBIA
45 11.72 IKBKG NFKBIA
46 11.7 IKBKG NFKBIA
47
Show member pathways
11.68 IKBKG NFKBIA
48 11.67 IKBKG NFKBIA
49 11.6 IKBKG NFKBIA
50 11.54 IKBKG NFKBIA

GO Terms for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Biological processes related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.43 IKBKG NFKBIA
2 protein deubiquitination GO:0016579 9.4 IKBKG NFKBIA
3 Fc-epsilon receptor signaling pathway GO:0038095 9.37 IKBKG NFKBIA
4 T cell receptor signaling pathway GO:0050852 9.32 IKBKG NFKBIA
5 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.26 IKBKG NFKBIA
6 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.16 IKBKG NFKBIA
7 interleukin-1-mediated signaling pathway GO:0070498 8.96 IKBKG NFKBIA
8 I-kappaB kinase/NF-kappaB signaling GO:0007249 8.62 IKBKG NFKBIA

Molecular functions related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 8.62 IKBKG NFKBIA

Sources for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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