Hypohidrotic Ectodermal Dysplasia with Immunodeficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HYP643 MIFTS: 32	Hypohidrotic Ectodermal Dysplasia with Immunodeficiency Categories: Blood diseases, Eye diseases, Fetal diseases, Immune diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Expand all tables

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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:

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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Eye diseases Skin diseases Blood diseases Oral diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Immunodeficiency associated with other major defects

Immunodeficiency associated with other specified major defects

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

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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)

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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 22)

#	Related Disease	Score	Top Affiliating Genes
1	ectodermal dysplasia	29.8	NFKBIA IKBKG
2	ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	29.7	NFKBIA IKBKG
3	immune deficiency disease	29.5	NFKBIA IKBKG
4	ectodermal dysplasia and immunodeficiency 1	11.5
5	ectodermal dysplasia and immunodeficiency 2	11.2
6	anhidrosis	10.4
7	immunodeficiency with hyper-igm, type 1	10.2
8	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	10.2
9	graft-versus-host disease	10.2
10	colitis	10.2
11	hereditary lymphedema i	10.2
12	combined immunodeficiency	10.2
13	thrombocytopenia	10.2
14	agammaglobulinemia	10.2
15	pneumonia	10.2
16	hemolytic anemia	10.2
17	acute graft versus host disease	10.2
18	incontinentia pigmenti	10.2
19	osteopetrosis	10.0
20	duodenal atresia	10.0
21	shigellosis	9.7	NFKBIA IKBKG
22	t-cell lymphoblastic leukemia/lymphoma	9.6	NFKBIA IKBKG

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

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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

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Drugs & Therapeutics for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

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

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Genetic Tests for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

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Anatomical Context for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

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

⁴⁰

Eye, B Cells

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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	Martinez-Pomar N...Matamoros N	16228229	2005
2	Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. ⁶ ⁶¹	Orange JS...Geha RS	12045264	2002
3	Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). ⁶¹ ⁶	Kosaki K...Matsuo N	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	Zonana J...Ferguson BM	11047757	2000
5	IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. ⁶	Moriya K...Kanegane H	29948576	2018
6	Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. ⁶	Staples E...Thaventhiran JED	28417298	2017
7	Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. ⁶	Lee AJ...Boisson-Dupuis S	26888281	2016
8	Anhidrotic ectodermal dysplasia: a new mutation. ⁶	Giancane G...Duse M	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	Yoshioka T...Heike T	23864385	2013
10	A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. ⁶	Schimke LF...Torgerson TR	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	Lopez-Granados E...Jain A	18412279	2008
12	Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. ⁶	McDonald DR...Geha RS	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	Vinolo E...Agou F	16379012	2006
14	Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. ⁶	Orstavik KH...Steen-Johnsen J	16333836	2006
15	The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. ⁶	Janssen R...Lankester A	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	Nishikomori R...Nakahata T	14726382	2004
17	The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. ⁶	Orange JS...Bonilla FA	15100680	2004
18	A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. ⁶	Courtois G...Casanova JL	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	Aradhya S...Nelson DL	11179023	2001
20	Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. ⁶	Jain A...Strober W	11224521	2001
21	X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. ⁶	Doffinger R...Casanova JL	11242109	2001
22	Familial linear and whorled nevoid hypermelanosis. ⁶	Akiyama M...Sugiura M	8169255	1994
23	Transient B cell immaturity with intractable diarrhoea: a possible new immunodeficiency syndrome. ⁶	Lie SO...Steen-Johnsen J	117248	1978
24	BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. ⁶¹	Darbinyan A...Tsankova NM	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	Giardino G...Pignata C	26307434	2015
26	Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections. ⁶¹	Carlberg VM...Krol AL	23405946	2014
27	A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). ⁶¹	Roberts CM...Ravenscroft JC	20499091	2010
28	The zinc finger domain of IKKγ (NEMO) protein in health and disease. ⁶¹	Shifera AS	20345847	2010
29	Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency. ⁶¹	Minakawa S...Sawamura D	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	Shifera AS...Horwitz MS	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	Souto-Carneiro MM...Lipsky PE	18178844	2008
32	Preimplantation diagnosis for immunodeficiencies. ⁶¹	Verlinsky Y...Kuliev A	17298726	2007
33	Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected]. ⁶¹	Wu CJ...Ashwell JD	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	Tang ED...Guan KL	12867425	2003
35	Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. ⁶¹	Mansour S...Murday VA	11241484	2001

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Genes for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Genes related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	775	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶	12045264 11047757 11242109 (more) 16379012 16228229 117248 16333836 15100680 14726382 11484156 8169255 11179023 11224521
2	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	750	Pathogenic ⁶ Causative germline mutation ⁵⁸	29948576 28417298 23864385 (more) 26888281 23708964 23870671 18412279 17931563 14523047 15337789

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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

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Expression for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

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

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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	Pathways in cancer ³⁶	12.46	NFKBIA IKBKG
2	Deubiquitination ⁶⁵ Show member pathways Ub-specific processing proteases ⁶⁵	12.45	NFKBIA IKBKG
3	Measles ³⁶ Show member pathways Epstein-Barr virus infection ³⁶ Influenza A ³⁶	12.44	NFKBIA IKBKG
4	Herpes simplex virus 1 infection ³⁶	12.43	NFKBIA IKBKG
5	Salmonella infection (KEGG) ³⁶ Show member pathways Salmonella infection ³⁶	12.38	NFKBIA IKBKG
6	Downstream signaling events of B Cell Receptor (BCR) ⁶⁵ Show member pathways Activation of RAS in B cells ⁶⁵ Signaling by the B Cell Receptor (BCR) ⁶⁵	12.37	NFKBIA IKBKG
7	Toll-Like receptor Signaling Pathways ⁶⁴ Show member pathways IL-1 Family Signaling Pathways ⁶⁴ Immune response IL-1 signaling pathway ²³ Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway ²³ Inflammasome Activation Pathways ⁶⁴ Mucin expression in CF via TLRs, EGFR signaling pathways ²³ NOD-like Receptor Signaling Pathways ⁶⁴	12.36	NFKBIA IKBKG
8	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ³⁶ Apoptosis ¹ Apoptosis and survival Apoptotic TNF-family pathways ²³ Apoptosis Signaling Pathways ⁶⁴	12.35	NFKBIA IKBKG
9	NF-KappaB Family Pathway ⁶³ Show member pathways NF-KappaB (p50-p65) Pathway ⁶³	12.34	NFKBIA IKBKG
10	G-AlphaQ Signaling ⁶³ Show member pathways G-AlphaI Signaling ⁶³ Thrombin Signaling ⁶³	12.31	NFKBIA IKBKG
11	4-1BB Pathway ⁶³ Show member pathways CD27 Pathway ⁶³ CD40 Signaling ⁶³ CMV and MAPK Pathways ⁶³ NF-KappaB Activation by EBV ⁶³ NF-kappaB Activation by Viruses ⁶³ PKR Pathway ⁶³ SUMO Pathway ⁶³ TNFR2 Pathway ⁶³	12.31	NFKBIA IKBKG
12	Immune response NFAT in immune response ²³ Show member pathways Immune response CD28 signaling ²³ Immune response ICOS pathway in T-helper cell ²³ Immune response T cell receptor signaling pathway ²³	12.28	NFKBIA IKBKG
13	T cell receptor signaling pathway ³⁶ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁶ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.26	NFKBIA IKBKG
14	Th17 cell differentiation ³⁶ Show member pathways IL-22 Pathway ⁶³ Immune response IL-22 signaling pathway ²³ Inflammatory bowel disease ³⁶ Th1 and Th2 cell differentiation ³⁶	12.25	NFKBIA IKBKG
15	Immune response IL-23 signaling pathway ²³ Show member pathways Angiopoietin receptor Tie2-mediated signaling ¹ Angiopoietin-TIE2 Signaling ⁶³ Development Angiopoietin - Tie2 signaling ²³ Development PDGF signaling via STATs and NF-kB ²³ IL23-mediated signaling events ¹ Immune response IL-10 signaling pathway ²³ Rac1/Pak1/p38/MMP-2 pathway ¹	12.24	NFKBIA IKBKG
16	Immune response Fc epsilon RI pathway ²³ Show member pathways Fc epsilon RI signaling pathway ³⁶ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²³ VEGF signaling pathway ³⁶	12.24	NFKBIA IKBKG
17	TRAF Pathway ⁶³ Show member pathways 14-3-3 Induced Apoptosis ⁶³ TNF Superfamily Pathway ⁶³ Toll-Like Receptors Pathway ⁶³	12.24	NFKBIA IKBKG
18	NF-kappaB Signaling ⁴	12.22	NFKBIA IKBKG
19	Cytosolic sensors of pathogen-associated DNA ⁶⁵ Show member pathways Cytosolic DNA-sensing pathway ³⁶ DEx/H-box helicases activate type I IFN and inflammatory cytokines production ⁶⁵ IkBA variant leads to EDA-ID ⁶⁵ IKBKB deficiency causes SCID ⁶⁵ IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) ⁶⁵ IRF3 mediated activation of type 1 IFN ⁶⁵ IRF3-mediated induction of type I IFN ⁶⁵ LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production ⁶⁵ Regulation by TREX1 ⁶⁵ Regulation of innate immune responses to cytosolic DNA ⁶⁵ RIP-mediated NFkB activation via ZBP1 ⁶⁵ STAT6-mediated induction of chemokines ⁶⁵ STING mediated induction of host immune responses ⁶⁵ TAK1 activates NFkB by phosphorylation and activation of IKKs complex ⁶⁵ TRAF6 mediated NF-kB activation ⁶⁵ ZBP1(DAI) mediated induction of type I IFNs ⁶⁵	12.21	NFKBIA IKBKG
20	RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways ⁶⁵ Show member pathways Negative regulators of RIG-I/MDA5 signaling ⁶⁵ NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 ⁶⁵ RIG-I-like Receptor Signaling ¹ RIG-I-like receptor signaling pathway ³⁶ TRAF3-dependent IRF activation pathway ⁶⁵ TRAF6 mediated IRF7 activation ⁶⁵	12.2	NFKBIA IKBKG
21	Prolactin Signaling Pathway ¹ ³⁶ Show member pathways Development Prolactin receptor signaling ²³ Leptin signaling pathway ¹	12.14	NFKBIA IKBKG
22	Insulin receptor recycling ⁶⁵ Show member pathways Collecting duct acid secretion ³⁶ Epithelial cell signaling in Helicobacter pylori infection ³⁶ Iron uptake and transport ⁶⁵ ROS, RNS production in phagocytes ⁶⁵ Transferrin endocytosis and recycling ⁶⁵ Vibrio cholerae infection ³⁶	12.14	NFKBIA IKBKG
23	Apoptosis Pathway ⁷⁰ Show member pathways Akt Pathway ⁷⁰ NF-kappaB Pathway ⁷⁰	12.11	NFKBIA IKBKG
24	RANK Signaling in Osteoclasts ⁶³ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²³ APRIL Pathway ⁶³ BAFF in B-Cell Signaling ⁶³ RANK Pathway ⁶³ RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway ¹	12.09	NFKBIA IKBKG
25	CLEC7A (Dectin-1) signaling ⁶⁵ Show member pathways Alternative NF-kappaB pathway ¹ CLEC7A/inflammasome pathway ⁶⁵ C-type lectin receptors (CLRs) ⁶⁵	12.09	NFKBIA IKBKG
26	VEGF Pathway (Qiagen) ⁶³ Show member pathways CCKBR-Gastrin Stimulated Signaling ⁶³ Development VEGF-family signaling ²³ Neurophilin interactions with VEGF and VEGFR ⁶⁵ VEGF Pathway ⁶³	12.07	NFKBIA IKBKG
27	B cell receptor signaling pathway (KEGG) ³⁶ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.07	NFKBIA IKBKG
28	Shigellosis ³⁶	12.06	NFKBIA IKBKG
29	Development VEGF signaling via VEGFR2 - generic cascades ²³ Show member pathways Development VEGF signaling and activation ²³ VEGF - VEGF R2 Signaling Pathways ⁶⁴	12.06	NFKBIA IKBKG
30	ICos-ICosL Pathway in T-Helper Cell ⁶³ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶³ CD28 Signaling in T-Helper Cell ⁶³	12.05	NFKBIA IKBKG
31	TCR signaling (REACTOME) ⁶⁵ Show member pathways Downstream TCR signaling ⁶⁵	12.01	NFKBIA IKBKG
32	Human T-cell leukemia virus 1 infection ³⁶	12	NFKBIA IKBKG
33	CNTF Signaling ⁶³ Show member pathways FLT3 Signaling ⁶³ IL-3 Pathway ⁶³ Nur77-Induced AICD in Macrophage ⁶³ OSM Pathway ⁶³	11.99	NFKBIA IKBKG
34	IL-17 Family Signaling Pathways ⁶⁴ Show member pathways IL17 signaling pathway ¹ IL-17 signaling pathway ³⁶ Interleukin-17 signaling ⁶⁵ Mucin expression in CF via IL-6, IL-17 signaling pathways ²³	11.99	NFKBIA IKBKG
35	Toll Comparative Pathway ⁶³ Show member pathways IL-1 Pathway ⁶³ Immune response MIF in innate immunity response ²³ iNOS Signaling ⁶³ TLR-TRIF Pathway ⁶³	11.98	NFKBIA IKBKG
36	Development ERBB-family signaling ²³ Show member pathways Development EGFR signaling pathway ²³ EGF Pathway ⁶³ ErbB receptor signaling network ¹ GRB7 events in ERBB2 signaling ⁶⁵ PLCG1 events in ERBB2 signaling ⁶⁵	11.98	NFKBIA IKBKG
37	Viral carcinogenesis ³⁶	11.96	NFKBIA IKBKG
38	IL-1 signaling pathway ¹ Show member pathways IL1-mediated signaling events ¹ Interleukin-1 signaling ⁶⁵ MAP3K8 (TPL2)-dependent MAPK1/3 activation ⁶⁵ Structural Pathway of Interleukin 1 (IL-1) ¹	11.95	NFKBIA IKBKG
39	Diseases associated with the TLR signaling cascade ⁶⁵ Show member pathways Diseases of Immune System ⁶⁵ Interleukin-1 Induced Activation of NF-kappa-B ¹ IRAK1 recruits IKK complex ⁶⁵ IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation ⁶⁵ IRAK4 deficiency (TLR2/4) ⁶⁵ IRAK4 deficiency (TLR5) ⁶⁵ MyD88 deficiency (TLR2/4) ⁶⁵ MyD88 deficiency (TLR5) ⁶⁵ Simplified Depiction of MYD88 Distinct Input-Output Pathway ¹ TLR4 Signaling and Tolerance ¹ Toll-like Receptor Signaling ¹	11.92	NFKBIA IKBKG
40	Toxoplasmosis ³⁶ Show member pathways Leishmaniasis ³⁶	11.91	NFKBIA IKBKG
41	NOD-like receptor signaling pathway ³⁶	11.89	NFKBIA IKBKG
42	C-type lectin receptor signaling pathway ³⁶ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁴	11.86	NFKBIA IKBKG
43	Bacterial infections in CF airways ²³ Show member pathways IL-1 beta-dependent CFTR expression ²³ Immune response Bacterial infections in normal airways ²³ Immune response TLR signaling pathways ²³	11.83	NFKBIA IKBKG
44	Brain-Derived Neurotrophic Factor (BDNF) signaling pathway ¹	11.76	NFKBIA IKBKG
45	Yersinia infection ³⁶	11.74	NFKBIA IKBKG
46	Osteoclast differentiation ³⁶	11.69	NFKBIA IKBKG
47	MAPK Pathway ⁷⁰ Show member pathways Toll-like Receptor Pathway ⁷⁰	11.67	NFKBIA IKBKG
48	G12-G13 in Cellular Signaling ⁶³	11.66	NFKBIA IKBKG
49	TNF signaling pathway ³⁶	11.61	NFKBIA IKBKG
50	NF-kappa B signaling pathway ³⁶	11.56	NFKBIA IKBKG

Sources

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

Sources for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

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