MCID: HYP643
MIFTS: 28

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 Deubiquitination and Measles. Affiliated tissues include eye, skin and t 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, Skin, T Cells, B Cells

Publications for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Articles related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

(show all 37)
# 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. 61 6
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). 61 6
11047757 2000
5
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency. 6
30422821 2019
6
IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. 6
29948576 2018
7
Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. 6
28417298 2017
8
Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. 6
26888281 2016
9
Anhidrotic ectodermal dysplasia: a new mutation. 6
23870671 2013
10
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
11
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. 6
23708964 2013
12
NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients. 6
20412081 2010
13
IgA and IgG hypogammaglobulinemia in Waldenström's macroglobulinemia. 6
19903677 2010
14
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
15
Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. 6
17931563 2007
16
Clinical and molecular analysis of NF-kappaB essential modulator in Chinese incontinentia pigmenti patients. 6
17910706 2007
17
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
18
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. 6
16333836 2006
19
The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. 6
15337789 2004
20
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
21
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. 6
14523047 2003
22
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
23
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. 6
11242109 2001
24
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. 6
11224521 2001
25
Transient B cell immaturity with intractable diarrhoea: a possible new immunodeficiency syndrome. 6
117248 1978
26
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. 61
27411570 2016
27
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
28
Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections. 61
23405946 2014
29
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). 61
20499091 2010
30
The zinc finger domain of IKKγ (NEMO) protein in health and disease. 61
20345847 2010
31
Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency. 61
19663838 2009
32
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
33
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
34
Preimplantation diagnosis for immunodeficiencies. 61
17298726 2007
35
Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected]. 61
16547522 2006
36
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
37
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

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 66)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 NFKBIA IKBKG
2
Show member pathways
12.44 NFKBIA IKBKG
3 12.42 NFKBIA IKBKG
4
Show member pathways
12.37 NFKBIA IKBKG
5
Show member pathways
12.37 NFKBIA IKBKG
6
Show member pathways
12.35 NFKBIA IKBKG
7
Show member pathways
12.35 NFKBIA IKBKG
8
Show member pathways
12.32 NFKBIA IKBKG
9
Show member pathways
12.32 NFKBIA IKBKG
10
Show member pathways
12.28 NFKBIA IKBKG
11
Show member pathways
12.26 NFKBIA IKBKG
12
Show member pathways
12.26 NFKBIA IKBKG
13
Show member pathways
12.25 NFKBIA IKBKG
14
Show member pathways
12.25 NFKBIA IKBKG
15
Show member pathways
12.24 NFKBIA IKBKG
16 12.22 NFKBIA IKBKG
17
Show member pathways
12.21 NFKBIA IKBKG
18
Show member pathways
12.2 NFKBIA IKBKG
19
Show member pathways
12.15 NFKBIA IKBKG
20
Show member pathways
12.15 NFKBIA IKBKG
21
Show member pathways
12.11 NFKBIA IKBKG
22
Show member pathways
12.1 NFKBIA IKBKG
23
Show member pathways
12.09 NFKBIA IKBKG
24
Show member pathways
12.08 NFKBIA IKBKG
25
Show member pathways
12.08 NFKBIA IKBKG
26
Show member pathways
12.07 NFKBIA IKBKG
27 12.06 NFKBIA IKBKG
28
Show member pathways
12.06 NFKBIA IKBKG
29
Show member pathways
12.02 NFKBIA IKBKG
30 12.01 NFKBIA IKBKG
31
Show member pathways
12 NFKBIA IKBKG
32
Show member pathways
12 NFKBIA IKBKG
33
Show member pathways
11.99 NFKBIA IKBKG
34 11.97 NFKBIA IKBKG
35
Show member pathways
11.97 NFKBIA IKBKG
36 11.96 NFKBIA IKBKG
37
Show member pathways
11.96 NFKBIA IKBKG
38 11.93 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
11.87 NFKBIA IKBKG
43
Show member pathways
11.84 NFKBIA IKBKG
44 11.77 NFKBIA IKBKG
45 11.71 NFKBIA IKBKG
46
Show member pathways
11.68 NFKBIA IKBKG
47 11.67 NFKBIA IKBKG
48 11.66 NFKBIA IKBKG
49 11.62 NFKBIA IKBKG
50 11.57 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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