MCID: HYP643
MIFTS: 32

Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

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

Aliases & Classifications for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

MalaCards integrated aliases for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

Name: Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 58
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency 71
Anhidrotic Ectodermal Dysplasia with Immunodeficiency 58
Hed-Id 58
Eda-Id 58

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare immunological diseases
Rare odontological diseases


External Ids:

ICD10 via Orphanet 33 D82.8
UMLS via Orphanet 72 C1846006
Orphanet 58 ORPHA98813
UMLS 71 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 10b, hypohidrotic/hair/tooth type, autosomal recessive. An important gene associated with Hypohidrotic Ectodermal Dysplasia with Immunodeficiency is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma), and among its related pathways/superpathways are Pathways in cancer and Deubiquitination. Affiliated tissues include eye and b cells, 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

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 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.47 NFKBIA
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.47 NFKBIA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.47 IKBKG
4 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.47 NFKBIA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-17 9.47 IKBKG
6 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.47 NFKBIA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.47 IKBKG
8 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.47 NFKBIA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.47 IKBKG
10 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.47 IKBKG
11 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.47 NFKBIA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.47 IKBKG NFKBIA
13 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.47 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:

40
Eye, B Cells

Publications for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Articles related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

(show all 35)
# Title Authors PMID Year
1
A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. 61 6
16228229 2005
2
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. 6 61
12045264 2002
3
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). 61 6
11484156 2001
4
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). 6 61
11047757 2000
5
IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. 6
29948576 2018
6
Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. 6
28417298 2017
7
Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. 6
26888281 2016
8
Anhidrotic ectodermal dysplasia: a new mutation. 6
23870671 2013
9
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. 6
23864385 2013
10
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. 6
23708964 2013
11
A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. 6
18412279 2008
12
Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. 6
17931563 2007
13
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. 6
16379012 2006
14
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. 6
16333836 2006
15
The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. 6
15337789 2004
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. 6
14726382 2004
17
The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. 6
15100680 2004
18
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. 6
14523047 2003
19
Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). 6
11179023 2001
20
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. 6
11224521 2001
21
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. 6
11242109 2001
22
Familial linear and whorled nevoid hypermelanosis. 6
8169255 1994
23
Transient B cell immaturity with intractable diarrhoea: a possible new immunodeficiency syndrome. 6
117248 1978
24
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. 61
27411570 2016
25
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
26
Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections. 61
23405946 2014
27
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). 61
20499091 2010
28
The zinc finger domain of IKKγ (NEMO) protein in health and disease. 61
20345847 2010
29
Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency. 61
19663838 2009
30
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
31
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
32
Preimplantation diagnosis for immunodeficiencies. 61
17298726 2007
33
Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected]. 61
16547522 2006
34
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
35
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. 61
11241484 2001

Variations for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

ClinVar genetic disease variations for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

6 (show top 50) (show all 99)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IKBKG NM_003639.4(IKBKG):c.1249T>C (p.Cys417Arg) SNV Pathogenic 11454 rs137853325 X:153792665-153792665 X:154564450-154564450
2 IKBKG NM_003639.4(IKBKG):c.1167dup (p.Glu390fs) Duplication Pathogenic 372387 rs782178147 X:153792576-153792577 X:154564361-154564362
3 IKBKG NM_003639.4(IKBKG):c.1250G>T (p.Cys417Phe) SNV Pathogenic 11456 rs137853326 X:153792666-153792666 X:154564451-154564451
4 IKBKG IKBKG, 4.4-KB DUP Duplication Pathogenic 11459
5 IKBKG NM_003639.4(IKBKG):c.458T>G (p.Leu153Arg) SNV Pathogenic 11460 rs137853328 X:153786805-153786805 X:154558590-154558590
6 IKBKG NM_003639.4(IKBKG):c.768+5G>A SNV Pathogenic 11462 rs1569556603 X:153790004-153790004 X:154561789-154561789
7 IKBKG IKBKG, 1-BP INS, 1409A Insertion Pathogenic 11463
8 IKBKG NM_003639.4(IKBKG):c.863C>G (p.Ala288Gly) SNV Pathogenic 11466 rs137853330 X:153791119-153791119 X:154562904-154562904
9 NFKBIA NM_020529.2(NFKBIA):c.95G>T (p.Ser32Ile) SNV Pathogenic 14003 rs28933100 14:35873756-35873756 14:35404550-35404550
10 NFKBIA NM_020529.2(NFKBIA):c.32G>A (p.Trp11Ter) SNV Pathogenic 14004 rs121913664 14:35873819-35873819 14:35404613-35404613
11 NFKBIA NM_020529.2(NFKBIA):c.40G>T (p.Glu14Ter) SNV Pathogenic 14005 rs121913665 14:35873811-35873811 14:35404605-35404605
12 NFKBIA NM_020529.2(NFKBIA):c.110T>G (p.Met37Arg) SNV Pathogenic 590306 rs1566591073 14:35873741-35873741 14:35404535-35404535
13 NFKBIA NM_020529.2(NFKBIA):c.110T>A (p.Met37Lys) SNV Pathogenic 590307 rs1566591073 14:35873741-35873741 14:35404535-35404535
14 NFKBIA NM_020529.2(NFKBIA):c.107C>A (p.Ser36Tyr) SNV Pathogenic 590308 rs1566591076 14:35873744-35873744 14:35404538-35404538
15 NFKBIA NM_020529.2(NFKBIA):c.94A>G (p.Ser32Gly) SNV Pathogenic 590309 rs1566591086 14:35873757-35873757 14:35404551-35404551
16 NFKBIA NM_020529.2(NFKBIA):c.96C>G (p.Ser32Arg) SNV Pathogenic 590310 rs1566591082 14:35873755-35873755 14:35404549-35404549
17 NFKBIA NM_020529.2(NFKBIA):c.95G>A (p.Ser32Asn) SNV Pathogenic 590311 rs28933100 14:35873756-35873756 14:35404550-35404550
18 IKBKG NM_003639.4(IKBKG):c.1171G>T (p.Glu391Ter) SNV Pathogenic 11453 rs137853324 X:153792587-153792587 X:154564372-154564372
19 IKBKG NM_003639.4(IKBKG):c.1207C>T (p.Gln403Ter) SNV Pathogenic 11461 rs137853329 X:153792623-153792623 X:154564408-154564408
20 IKBKG NM_003639.4(IKBKG):c.931G>A (p.Asp311Asn) SNV Likely pathogenic 68239 rs179363867 X:153791792-153791792 X:154563577-154563577
21 IKBKG NM_003639.4(IKBKG):c.185G>A (p.Arg62Gln) SNV Likely pathogenic 430903 rs782604431 X:153780402-153780402 X:154552187-154552187
22 IKBKG NM_003639.4(IKBKG):c.470A>C (p.Gln157Pro) SNV Likely pathogenic 36382 rs386134240 X:153786817-153786817 X:154558602-154558602
23 IKBKG NM_003639.4(IKBKG):c.262_264GAG[1] (p.Glu89del) Microsatellite Likely pathogenic 36380 rs386134238 X:153784453-153784455 X:154556238-154556240
24 NFKBIA NM_020529.2(NFKBIA):c.554C>T (p.Thr185Met) SNV Conflicting interpretations of pathogenicity 313111 rs142195196 14:35872059-35872059 14:35402853-35402853
25 NFKBIA NM_020529.2(NFKBIA):c.337-3T>C SNV Conflicting interpretations of pathogenicity 576934 rs756930611 14:35872569-35872569 14:35403363-35403363
26 NFKBIA NM_020529.2(NFKBIA):c.437C>T (p.Thr146Ile) SNV Uncertain significance 583048 rs753691609 14:35872466-35872466 14:35403260-35403260
27 NFKBIA NM_020529.2(NFKBIA):c.847A>T (p.Ser283Cys) SNV Uncertain significance 565672 rs989569540 14:35871659-35871659 14:35402453-35402453
28 NFKBIA NM_020529.2(NFKBIA):c.810C>T (p.Gly270=) SNV Uncertain significance 567681 rs983972574 14:35871696-35871696 14:35402490-35402490
29 G6PD NM_001360016.2(G6PD):c.120+3646C>T SNV Uncertain significance 625962 rs782367664 X:153770605-153770605 X:154542390-154542390
30 NFKBIA NM_020529.2(NFKBIA):c.368A>G (p.Gln123Arg) SNV Uncertain significance 648247 rs142422402 14:35872535-35872535 14:35403329-35403329
31 NFKBIA NM_020529.2(NFKBIA):c.790C>T (p.Arg264Trp) SNV Uncertain significance 649160 rs747273949 14:35871716-35871716 14:35402510-35402510
32 NFKBIA NM_020529.2(NFKBIA):c.549C>T (p.Gly183=) SNV Uncertain significance 652039 rs769491611 14:35872064-35872064 14:35402858-35402858
33 NFKBIA NM_020529.3(NFKBIA):c.682C>G (p.Gln228Glu) SNV Uncertain significance 839804 14:35871824-35871824 14:35402618-35402618
34 NFKBIA NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu) SNV Uncertain significance 841041 14:35873672-35873672 14:35404466-35404466
35 NFKBIA NM_020529.3(NFKBIA):c.283C>T (p.Arg95Cys) SNV Uncertain significance 841632 14:35872949-35872949 14:35403743-35403743
36 NFKBIA NM_020529.3(NFKBIA):c.52G>A (p.Asp18Asn) SNV Uncertain significance 842008 14:35873799-35873799 14:35404593-35404593
37 NFKBIA NM_020529.3(NFKBIA):c.209T>C (p.Leu70Pro) SNV Uncertain significance 844597 14:35873642-35873642 14:35404436-35404436
38 NFKBIA NM_020529.3(NFKBIA):c.299A>G (p.Asp100Gly) SNV Uncertain significance 853953 14:35872933-35872933 14:35403727-35403727
39 NFKBIA NM_020529.3(NFKBIA):c.326A>G (p.Asn109Ser) SNV Uncertain significance 858355 14:35872906-35872906 14:35403700-35403700
40 NFKBIA NM_020529.3(NFKBIA):c.879_887del (p.295_297FTE[1]) Deletion Uncertain significance 859175 14:35871619-35871627 14:35402413-35402421
41 NFKBIA NM_020529.3(NFKBIA):c.911C>G (p.Pro304Arg) SNV Uncertain significance 881430 14:35871262-35871262 14:35402056-35402056
42 IKBKG NM_003639.4(IKBKG):c.399+19G>C SNV Uncertain significance 36381 rs386134239 X:153784610-153784610 X:154556395-154556395
43 IKBKG NM_003639.4(IKBKG):c.518+7C>T SNV Uncertain significance 36383 rs386134241 X:153786872-153786872 X:154558657-154558657
44 IKBKG NM_003639.4(IKBKG):c.1056-18C>T SNV Uncertain significance 36378 rs386134237 X:153792156-153792156 X:154563941-154563941
45 IKBKG NM_003639.4(IKBKG):c.1056-6= SNV Uncertain significance 36379 rs5945206 X:153792168-153792168 X:154563953-154563953
46 NFKBIA NM_020529.2(NFKBIA):c.*366G>A SNV Uncertain significance 313100 rs552418731 14:35870853-35870853 14:35401647-35401647
47 NFKBIA NM_020529.2(NFKBIA):c.379G>A (p.Ala127Thr) SNV Uncertain significance 313114 rs377380656 14:35872524-35872524 14:35403318-35403318
48 NFKBIA NM_020529.2(NFKBIA):c.*302A>C SNV Uncertain significance 313101 rs886050475 14:35870917-35870917 14:35401711-35401711
49 NFKBIA NM_020529.2(NFKBIA):c.547+10C>T SNV Uncertain significance 313113 rs201614038 14:35872346-35872346 14:35403140-35403140
50 NFKBIA NM_020529.2(NFKBIA):c.-80C>T SNV Uncertain significance 313121 rs886050476 14:35873930-35873930 14:35404724-35404724

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 12.46 NFKBIA IKBKG
2
Show member pathways
12.45 NFKBIA IKBKG
3
Show member pathways
12.44 NFKBIA IKBKG
4 12.43 NFKBIA IKBKG
5
Show member pathways
12.38 NFKBIA IKBKG
6
Show member pathways
12.37 NFKBIA IKBKG
7
Show member pathways
12.36 NFKBIA IKBKG
8
Show member pathways
12.35 NFKBIA IKBKG
9
Show member pathways
12.34 NFKBIA IKBKG
10
Show member pathways
12.31 NFKBIA IKBKG
11
Show member pathways
12.31 NFKBIA IKBKG
12
Show member pathways
12.28 NFKBIA IKBKG
13
Show member pathways
12.26 NFKBIA IKBKG
14
Show member pathways
12.25 NFKBIA IKBKG
15
Show member pathways
12.24 NFKBIA IKBKG
16
Show member pathways
12.24 NFKBIA IKBKG
17
Show member pathways
12.24 NFKBIA IKBKG
18 12.22 NFKBIA IKBKG
19
Show member pathways
12.21 NFKBIA IKBKG
20
Show member pathways
12.2 NFKBIA IKBKG
21
Show member pathways
12.14 NFKBIA IKBKG
22
Show member pathways
12.14 NFKBIA IKBKG
23
Show member pathways
12.11 NFKBIA IKBKG
24
Show member pathways
12.09 NFKBIA IKBKG
25
Show member pathways
12.09 NFKBIA IKBKG
26
Show member pathways
12.07 NFKBIA IKBKG
27
Show member pathways
12.07 NFKBIA IKBKG
28 12.06 NFKBIA IKBKG
29
Show member pathways
12.06 NFKBIA IKBKG
30
Show member pathways
12.05 NFKBIA IKBKG
31
Show member pathways
12.01 NFKBIA IKBKG
32 12 NFKBIA IKBKG
33
Show member pathways
11.99 NFKBIA IKBKG
34
Show member pathways
11.99 NFKBIA IKBKG
35
Show member pathways
11.98 NFKBIA IKBKG
36
Show member pathways
11.98 NFKBIA IKBKG
37 11.96 NFKBIA IKBKG
38
Show member pathways
11.95 NFKBIA IKBKG
39
Show member pathways
11.92 NFKBIA IKBKG
40
Show member pathways
11.91 NFKBIA IKBKG
41 11.89 NFKBIA IKBKG
42
Show member pathways
11.86 NFKBIA IKBKG
43
Show member pathways
11.83 NFKBIA IKBKG
44 11.76 NFKBIA IKBKG
45 11.74 NFKBIA IKBKG
46 11.69 NFKBIA IKBKG
47
Show member pathways
11.67 NFKBIA IKBKG
48 11.66 NFKBIA IKBKG
49 11.61 NFKBIA IKBKG
50 11.56 NFKBIA IKBKG

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 protein deubiquitination GO:0016579 9.16 NFKBIA IKBKG
2 interleukin-1-mediated signaling pathway GO:0070498 8.96 NFKBIA IKBKG
3 I-kappaB kinase/NF-kappaB signaling GO:0007249 8.62 NFKBIA IKBKG

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 NFKBIA IKBKG

Sources for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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