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 70
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 71 C1846006
Orphanet 58 ORPHA98813
UMLS 70 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 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 45)
# 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
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 6
29077208 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
Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura. 6
26117626 2015
10
Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO). 6
24682681 2014
11
Anhidrotic ectodermal dysplasia: a new mutation. 6
23870671 2013
12
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
13
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. 6
23708964 2013
14
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. 6
21622647 2011
15
Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. 6
18851874 2008
16
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
17
Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. 6
17931563 2007
18
IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease. 6
16950813 2007
19
Mutations in the NF-kappaB signaling pathway: implications for human disease. 6
17072331 2006
20
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. 6
16818673 2006
21
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. 6
16532398 2006
22
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
23
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. 6
16333836 2006
24
NEMO mutations in 2 unrelated boys with severe infections and conical teeth. 6
15833888 2005
25
The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. 6
15337789 2004
26
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
27
The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. 6
15100680 2004
28
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. 6
14523047 2003
29
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
30
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. 6
11242109 2001
31
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. 6
11224521 2001
32
Familial linear and whorled nevoid hypermelanosis. 6
8169255 1994
33
Transient B cell immaturity with intractable diarrhoea: a possible new immunodeficiency syndrome. 6
117248 1978
34
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. 61
27411570 2016
35
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
36
Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections. 61
23405946 2014
37
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). 61
20499091 2010
38
The zinc finger domain of IKKγ (NEMO) protein in health and disease. 61
20345847 2010
39
Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency. 61
19663838 2009
40
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
41
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
42
Preimplantation diagnosis for immunodeficiencies. 61
17298726 2007
43
Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected]. 61
16547522 2006
44
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
45
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 103)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IKBKG NM_003639.4(IKBKG):c.1249T>C (p.Cys417Arg) SNV Pathogenic 11454 rs137853325 GRCh37: X:153792665-153792665
GRCh38: X:154564450-154564450
2 IKBKG NM_003639.4(IKBKG):c.1167dup (p.Glu390fs) Duplication Pathogenic 372387 rs782178147 GRCh37: X:153792576-153792577
GRCh38: X:154564361-154564362
3 IKBKG NM_003639.4(IKBKG):c.1250G>T (p.Cys417Phe) SNV Pathogenic 11456 rs137853326 GRCh37: X:153792666-153792666
GRCh38: X:154564451-154564451
4 IKBKG IKBKG, 4.4-KB DUP Duplication Pathogenic 11459 GRCh37:
GRCh38:
5 IKBKG NM_003639.4(IKBKG):c.458T>G (p.Leu153Arg) SNV Pathogenic 11460 rs137853328 GRCh37: X:153786805-153786805
GRCh38: X:154558590-154558590
6 IKBKG NM_003639.4(IKBKG):c.768+5G>A SNV Pathogenic 11462 rs1569556603 GRCh37: X:153790004-153790004
GRCh38: X:154561789-154561789
7 IKBKG IKBKG, 1-BP INS, 1409A Insertion Pathogenic 11463 GRCh37:
GRCh38:
8 IKBKG NM_003639.4(IKBKG):c.863C>G (p.Ala288Gly) SNV Pathogenic 11466 rs137853330 GRCh37: X:153791119-153791119
GRCh38: X:154562904-154562904
9 NFKBIA NM_020529.2(NFKBIA):c.95G>T (p.Ser32Ile) SNV Pathogenic 14003 rs28933100 GRCh37: 14:35873756-35873756
GRCh38: 14:35404550-35404550
10 NFKBIA NM_020529.2(NFKBIA):c.32G>A (p.Trp11Ter) SNV Pathogenic 14004 rs121913664 GRCh37: 14:35873819-35873819
GRCh38: 14:35404613-35404613
11 NFKBIA NM_020529.2(NFKBIA):c.40G>T (p.Glu14Ter) SNV Pathogenic 14005 rs121913665 GRCh37: 14:35873811-35873811
GRCh38: 14:35404605-35404605
12 NFKBIA NM_020529.2(NFKBIA):c.110T>A (p.Met37Lys) SNV Pathogenic 590307 rs1566591073 GRCh37: 14:35873741-35873741
GRCh38: 14:35404535-35404535
13 NFKBIA NM_020529.2(NFKBIA):c.107C>A (p.Ser36Tyr) SNV Pathogenic 590308 rs1566591076 GRCh37: 14:35873744-35873744
GRCh38: 14:35404538-35404538
14 NFKBIA NM_020529.2(NFKBIA):c.94A>G (p.Ser32Gly) SNV Pathogenic 590309 rs1566591086 GRCh37: 14:35873757-35873757
GRCh38: 14:35404551-35404551
15 NFKBIA NM_020529.2(NFKBIA):c.96C>G (p.Ser32Arg) SNV Pathogenic 590310 rs1566591082 GRCh37: 14:35873755-35873755
GRCh38: 14:35404549-35404549
16 NFKBIA NM_020529.2(NFKBIA):c.95G>A (p.Ser32Asn) SNV Pathogenic 590311 rs28933100 GRCh37: 14:35873756-35873756
GRCh38: 14:35404550-35404550
17 IKBKG NM_003639.4(IKBKG):c.1171G>T (p.Glu391Ter) SNV Pathogenic 11453 rs137853324 GRCh37: X:153792587-153792587
GRCh38: X:154564372-154564372
18 IKBKG NM_003639.4(IKBKG):c.1207C>T (p.Gln403Ter) SNV Pathogenic 11461 rs137853329 GRCh37: X:153792623-153792623
GRCh38: X:154564408-154564408
19 IKBKG NM_003639.4(IKBKG):c.931G>A (p.Asp311Asn) SNV Likely pathogenic 68239 rs179363867 GRCh37: X:153791792-153791792
GRCh38: X:154563577-154563577
20 IKBKG NM_003639.4(IKBKG):c.185G>A (p.Arg62Gln) SNV Likely pathogenic 430903 rs782604431 GRCh37: X:153780402-153780402
GRCh38: X:154552187-154552187
21 IKBKG NM_003639.4(IKBKG):c.470A>C (p.Gln157Pro) SNV Likely pathogenic 36382 rs386134240 GRCh37: X:153786817-153786817
GRCh38: X:154558602-154558602
22 IKBKG NM_003639.4(IKBKG):c.262_264GAG[1] (p.Glu89del) Microsatellite Likely pathogenic 36380 rs386134238 GRCh37: X:153784453-153784455
GRCh38: X:154556238-154556240
23 NFKBIA NM_020529.2(NFKBIA):c.554C>T (p.Thr185Met) SNV Conflicting interpretations of pathogenicity 313111 rs142195196 GRCh37: 14:35872059-35872059
GRCh38: 14:35402853-35402853
24 NFKBIA NM_020529.2(NFKBIA):c.337-3T>C SNV Conflicting interpretations of pathogenicity 576934 rs756930611 GRCh37: 14:35872569-35872569
GRCh38: 14:35403363-35403363
25 NFKBIA NM_020529.2(NFKBIA):c.437C>T (p.Thr146Ile) SNV Uncertain significance 583048 rs753691609 GRCh37: 14:35872466-35872466
GRCh38: 14:35403260-35403260
26 NFKBIA NM_020529.2(NFKBIA):c.847A>T (p.Ser283Cys) SNV Uncertain significance 565672 rs989569540 GRCh37: 14:35871659-35871659
GRCh38: 14:35402453-35402453
27 NFKBIA NM_020529.2(NFKBIA):c.810C>T (p.Gly270=) SNV Uncertain significance 567681 rs983972574 GRCh37: 14:35871696-35871696
GRCh38: 14:35402490-35402490
28 G6PD , IKBKG NM_001360016.2(G6PD):c.120+3646C>T SNV Uncertain significance 625962 rs782367664 GRCh37: X:153770605-153770605
GRCh38: X:154542390-154542390
29 NFKBIA NM_020529.2(NFKBIA):c.368A>G (p.Gln123Arg) SNV Uncertain significance 648247 rs142422402 GRCh37: 14:35872535-35872535
GRCh38: 14:35403329-35403329
30 NFKBIA NM_020529.2(NFKBIA):c.790C>T (p.Arg264Trp) SNV Uncertain significance 649160 rs747273949 GRCh37: 14:35871716-35871716
GRCh38: 14:35402510-35402510
31 NFKBIA NM_020529.2(NFKBIA):c.549C>T (p.Gly183=) SNV Uncertain significance 652039 rs769491611 GRCh37: 14:35872064-35872064
GRCh38: 14:35402858-35402858
32 NFKBIA NM_020529.3(NFKBIA):c.682C>G (p.Gln228Glu) SNV Uncertain significance 839804 GRCh37: 14:35871824-35871824
GRCh38: 14:35402618-35402618
33 NFKBIA NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu) SNV Uncertain significance 841041 GRCh37: 14:35873672-35873672
GRCh38: 14:35404466-35404466
34 NFKBIA NM_020529.3(NFKBIA):c.283C>T (p.Arg95Cys) SNV Uncertain significance 841632 GRCh37: 14:35872949-35872949
GRCh38: 14:35403743-35403743
35 NFKBIA NM_020529.3(NFKBIA):c.52G>A (p.Asp18Asn) SNV Uncertain significance 842008 GRCh37: 14:35873799-35873799
GRCh38: 14:35404593-35404593
36 NFKBIA NM_020529.3(NFKBIA):c.209T>C (p.Leu70Pro) SNV Uncertain significance 844597 GRCh37: 14:35873642-35873642
GRCh38: 14:35404436-35404436
37 NFKBIA NM_020529.3(NFKBIA):c.299A>G (p.Asp100Gly) SNV Uncertain significance 853953 GRCh37: 14:35872933-35872933
GRCh38: 14:35403727-35403727
38 NFKBIA NM_020529.3(NFKBIA):c.326A>G (p.Asn109Ser) SNV Uncertain significance 858355 GRCh37: 14:35872906-35872906
GRCh38: 14:35403700-35403700
39 NFKBIA NM_020529.3(NFKBIA):c.879_887del (p.295_297FTE[1]) Deletion Uncertain significance 859175 GRCh37: 14:35871619-35871627
GRCh38: 14:35402413-35402421
40 NFKBIA NM_020529.3(NFKBIA):c.911C>G (p.Pro304Arg) SNV Uncertain significance 881430 GRCh37: 14:35871262-35871262
GRCh38: 14:35402056-35402056
41 NFKBIA NM_020529.3(NFKBIA):c.-42G>T SNV Uncertain significance 883037 GRCh37: 14:35873892-35873892
GRCh38: 14:35404686-35404686
42 NFKBIA NM_020529.3(NFKBIA):c.-73C>A SNV Uncertain significance 883038 GRCh37: 14:35873923-35873923
GRCh38: 14:35404717-35404717
43 NFKBIA NM_020529.3(NFKBIA):c.*252T>G SNV Uncertain significance 883768 GRCh37: 14:35870967-35870967
GRCh38: 14:35401761-35401761
44 NFKBIA NM_020529.3(NFKBIA):c.*102T>G SNV Uncertain significance 883769 GRCh37: 14:35871117-35871117
GRCh38: 14:35401911-35401911
45 IKBKG NM_003639.4(IKBKG):c.399+19G>C SNV Uncertain significance 36381 rs386134239 GRCh37: X:153784610-153784610
GRCh38: X:154556395-154556395
46 IKBKG NM_003639.4(IKBKG):c.518+7C>T SNV Uncertain significance 36383 rs386134241 GRCh37: X:153786872-153786872
GRCh38: X:154558657-154558657
47 IKBKG NM_003639.4(IKBKG):c.1056-18C>T SNV Uncertain significance 36378 rs386134237 GRCh37: X:153792156-153792156
GRCh38: X:154563941-154563941
48 IKBKG NM_003639.4(IKBKG):c.1056-6= SNV Uncertain significance 36379 rs5945206 GRCh37: X:153792168-153792168
GRCh38: X:154563953-154563953
49 NFKBIA NM_020529.2(NFKBIA):c.*366G>A SNV Uncertain significance 313100 rs552418731 GRCh37: 14:35870853-35870853
GRCh38: 14:35401647-35401647
50 NFKBIA NM_020529.2(NFKBIA):c.379G>A (p.Ala127Thr) SNV Uncertain significance 313114 rs377380656 GRCh37: 14:35872524-35872524
GRCh38: 14:35403318-35403318

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 67)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 NFKBIA IKBKG
2
Show member pathways
12.45 NFKBIA IKBKG
3 12.43 NFKBIA IKBKG
4
Show member pathways
12.42 NFKBIA IKBKG
5
Show member pathways
12.38 NFKBIA IKBKG
6
Show member pathways
12.37 NFKBIA IKBKG
7
Show member pathways
12.35 NFKBIA IKBKG
8
Show member pathways
12.35 NFKBIA IKBKG
9
Show member pathways
12.32 NFKBIA IKBKG
10
Show member pathways
12.32 NFKBIA IKBKG
11
Show member pathways
12.31 NFKBIA IKBKG
12
Show member pathways
12.3 NFKBIA IKBKG
13
Show member pathways
12.28 NFKBIA IKBKG
14
Show member pathways
12.26 NFKBIA IKBKG
15
Show member pathways
12.25 NFKBIA IKBKG
16
Show member pathways
12.24 NFKBIA IKBKG
17
Show member pathways
12.24 NFKBIA IKBKG
18
Show member pathways
12.24 NFKBIA IKBKG
19
Show member pathways
12.24 NFKBIA IKBKG
20 12.22 NFKBIA IKBKG
21
Show member pathways
12.21 NFKBIA IKBKG
22
Show member pathways
12.2 NFKBIA IKBKG
23
Show member pathways
12.14 NFKBIA IKBKG
24
Show member pathways
12.14 NFKBIA IKBKG
25
Show member pathways
12.11 NFKBIA IKBKG
26
Show member pathways
12.09 NFKBIA IKBKG
27
Show member pathways
12.09 NFKBIA IKBKG
28
Show member pathways
12.07 NFKBIA IKBKG
29
Show member pathways
12.07 NFKBIA IKBKG
30 12.06 NFKBIA IKBKG
31
Show member pathways
12.06 NFKBIA IKBKG
32
Show member pathways
12.05 NFKBIA IKBKG
33
Show member pathways
12.01 NFKBIA IKBKG
34 12 NFKBIA IKBKG
35
Show member pathways
11.99 NFKBIA IKBKG
36
Show member pathways
11.98 NFKBIA IKBKG
37 11.96 NFKBIA IKBKG
38
Show member pathways
11.96 NFKBIA IKBKG
39
Show member pathways
11.96 NFKBIA IKBKG
40
Show member pathways
11.92 NFKBIA IKBKG
41
Show member pathways
11.91 NFKBIA IKBKG
42 11.89 NFKBIA IKBKG
43
Show member pathways
11.87 NFKBIA IKBKG
44
Show member pathways
11.86 NFKBIA IKBKG
45
Show member pathways
11.83 NFKBIA IKBKG
46
Show member pathways
11.82 NFKBIA IKBKG
47 11.76 NFKBIA IKBKG
48 11.73 NFKBIA IKBKG
49 11.67 NFKBIA IKBKG
50
Show member pathways
11.66 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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