MCID: HYP643
MIFTS: 28

Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

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


Inheritance:

Autosomal dominant,X-linked recessive 58

Prevelance:

1-9/1000000 (Europe) 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

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


External Ids:

ICD10 via Orphanet 32 D82.8
UMLS via Orphanet 72 C1846006
Orphanet 58 ORPHA98813
UMLS 71 C1846006

Summaries for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Orphanet: 58 A rare ectodermal dysplasia syndrome characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and 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 TCR Signaling (Qiagen) and Beta-Adrenergic Signaling. Affiliated tissues include skin, eye and b cells, and related phenotype is 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:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 29.9 NFKBIA IKBKG
2 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 29.8 NFKBIA IKBKG
3 immune deficiency disease 29.5 NFKBIA IKBKG
4 ectodermal dysplasia and immunodeficiency 1 11.5
5 ectodermal dysplasia and immunodeficiency 2 11.3
6 ectodermal dysplasia 1, hypohidrotic, x-linked 10.6
7 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
8 turner syndrome 10.5
9 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 10.4
10 anhidrosis 10.4
11 pneumonia 10.4
12 autoimmune disease 10.2
13 cone-rod dystrophy 2 10.2
14 agammaglobulinemia, x-linked 10.2
15 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.2
16 immunodeficiency with hyper-igm, type 1 10.2
17 graft-versus-host disease 10.2
18 colitis 10.2
19 hereditary lymphedema i 10.2
20 combined immunodeficiency 10.2
21 osteomyelitis 10.2
22 t cell deficiency 10.2
23 pneumocystosis 10.2
24 thrombocytopenia 10.2
25 agammaglobulinemia 10.2
26 hemolytic anemia 10.2
27 acute graft versus host disease 10.2
28 children's interstitial lung disease 10.2
29 incontinentia pigmenti 10.2
30 osteopetrosis 10.1
31 duodenal atresia 10.0
32 glycogen storage disease iv 9.7 NFKBIA IKBKG
33 t-cell acute lymphoblastic leukemia 9.6 NFKBIA IKBKG

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:

25 (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

Organs/tissues related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

MalaCards : Skin, Eye, B Cells, T Cells, Bone

Publications for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Articles related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

(show top 50) (show all 77)
# Title Authors PMID Year
1
Time Course of Conical Teeth in Anhidrotic Ectodermal Dysplasia with Immunodeficiency. 62
35678949 2022
2
Critical Roles of NF-κB Signaling Molecules in Bone Metabolism Revealed by Genetic Mutations in Osteopetrosis. 62
35887342 2022
3
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency. 62
35028801 2022
4
A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response. 62
35005117 2022
5
An infant with X-linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report. 62
34815879 2021
6
EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation. 62
33598805 2021
7
Inborn errors of immunity associated with characteristic phenotypes. 62
33347837 2021
8
Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles. 62
35003103 2021
9
DISSEMINATED BACILLUS-CALMETTE-GUÉRIN INFECTIONS AND PRIMARY IMMUNODEFICIENCY DISORDERS IN SINGAPORE: A SINGLE CENTER 15-YEAR RETROSPECTIVE REVIEW. 62
32497805 2020
10
TNF receptor signalling in autoinflammatory diseases. 62
30838383 2019
11
Hemorrhagic Pneumonia as the First Manifestation of Anhidrotic Ectodermal Dysplasia with Immunodeficiency. 62
30982207 2019
12
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency. 62
30422821 2019
13
XL-EDA-ID Presenting with Congenital Duodenal Atresia and Perforations. 62
30146668 2018
14
ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency. 62
29155098 2018
15
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. 62
28629746 2018
16
NEMO Links Nuclear Factor-κB to Human Diseases. 62
29128367 2017
17
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia. 62
28993958 2017
18
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness. 62
28702714 2017
19
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. 62
28597146 2017
20
OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH. 62
27838798 2017
21
Interferon-gamma reduces the proliferation of M. tuberculosis within macrophages from a patient with a novel hypomorphic NEMO mutation. 62
27391872 2016
22
A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID). 62
27368913 2016
23
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. 62
27411570 2016
24
B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand. 62
26307434 2015
25
Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura. 62
26117626 2015
26
EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation. 62
26269396 2015
27
Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections. 62
23405946 2014
28
Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy. 62
24721901 2014
29
Two-sided ubiquitin binding of NF-κB essential modulator (NEMO) zinc finger unveiled by a mutation associated with anhidrotic ectodermal dysplasia with immunodeficiency syndrome. 62
24100029 2013
30
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. 62
23864385 2013
31
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. 62
23708964 2013
32
Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency. 62
22635013 2012
33
Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency. 62
22517901 2012
34
Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency. 62
21993693 2012
35
Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases. 62
22236433 2011
36
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. 62
21622647 2011
37
Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency. 62
21734245 2011
38
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). 62
20499091 2010
39
The zinc finger domain of IKKγ (NEMO) protein in health and disease. 62
20345847 2010
40
Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency. 62
19663838 2009
41
Essential role of nuclear factor-kappaB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes. 62
18523147 2008
42
Crystal structure of a vFlip-IKKgamma complex: insights into viral activation of the IKK signalosome. 62
18538660 2008
43
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. 62
18350553 2008
44
Solution structure of NEMO zinc finger and impact of an anhidrotic ectodermal dysplasia with immunodeficiency-related point mutation. 62
18313693 2008
45
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. 62
18207244 2008
46
X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis. 62
18347290 2008
47
A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway. 62
18222329 2008
48
The NF-kappaB canonical pathway is involved in the control of the exonucleolytic processing of coding ends during V(D)J recombination. 62
18178844 2008
49
Preimplantation diagnosis for immunodeficiencies. 62
17298726 2007
50
Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene. 62
16997509 2006

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 54)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 NFKBIA IKBKG
2
Show member pathways
12.47 NFKBIA IKBKG
3
Show member pathways
12.47 NFKBIA IKBKG
4
Show member pathways
12.45 NFKBIA IKBKG
5
Show member pathways
12.44 NFKBIA IKBKG
6
Show member pathways
12.43 NFKBIA IKBKG
7
Show member pathways
12.42 NFKBIA IKBKG
8
Show member pathways
12.38 NFKBIA IKBKG
9
Show member pathways
12.32 NFKBIA IKBKG
10
Show member pathways
12.3 NFKBIA IKBKG
11
Show member pathways
12.29 NFKBIA IKBKG
12
Show member pathways
12.28 NFKBIA IKBKG
13
Show member pathways
12.24 NFKBIA IKBKG
14
Show member pathways
12.24 IKBKG NFKBIA
15
Show member pathways
12.23 NFKBIA IKBKG
16
Show member pathways
12.21 NFKBIA IKBKG
17 12.19 NFKBIA IKBKG
18
Show member pathways
12.13 NFKBIA IKBKG
19
Show member pathways
12.12 NFKBIA IKBKG
20
Show member pathways
12.11 NFKBIA IKBKG
21
Show member pathways
12.1 NFKBIA IKBKG
22
Show member pathways
12.07 NFKBIA IKBKG
23
Show member pathways
12.07 NFKBIA IKBKG
24
Show member pathways
12.06 NFKBIA IKBKG
25
Show member pathways
12.05 NFKBIA IKBKG
26
Show member pathways
12.04 NFKBIA IKBKG
27
Show member pathways
12.03 NFKBIA IKBKG
28
Show member pathways
12.01 IKBKG NFKBIA
29
Show member pathways
11.96 NFKBIA IKBKG
30
Show member pathways
11.96 NFKBIA IKBKG
31
Show member pathways
11.9 NFKBIA IKBKG
32
Show member pathways
11.89 NFKBIA IKBKG
33
Show member pathways
11.88 NFKBIA IKBKG
34
Show member pathways
11.86 NFKBIA IKBKG
35
Show member pathways
11.78 NFKBIA IKBKG
36 11.66 NFKBIA IKBKG
37
Show member pathways
11.64 NFKBIA IKBKG
38 11.53 IKBKG NFKBIA
39 11.52 IKBKG NFKBIA
40
Show member pathways
11.5 NFKBIA IKBKG
41
Show member pathways
11.48 NFKBIA IKBKG
42
Show member pathways
11.41 NFKBIA IKBKG
43
Show member pathways
11.4 NFKBIA IKBKG
44
Show member pathways
11.36 NFKBIA IKBKG
45
Show member pathways
11.3 NFKBIA IKBKG
46 11.21 NFKBIA IKBKG
47 11.18 NFKBIA IKBKG
48 11.18 NFKBIA IKBKG
49 11.05 NFKBIA IKBKG
50 10.92 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 I-kappaB kinase/NF-kappaB signaling GO:0007249 8.92 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 8.92 NFKBIA IKBKG

Sources for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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