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 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:

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 ⁷¹ C1846006

Orphanet ⁵⁸ ORPHA98813

UMLS ⁷⁰ 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 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)

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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	ectodermal dysplasia and immunodeficiency 1	11.5
4	ectodermal dysplasia and immunodeficiency 2	11.2
5	anhidrosis	10.4
6	immunodeficiency with hyper-igm, type 1	10.2
7	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	10.2
8	graft-versus-host disease	10.2
9	colitis	10.2
10	hereditary lymphedema i	10.2
11	combined immunodeficiency	10.2
12	thrombocytopenia	10.2
13	agammaglobulinemia	10.2
14	pneumonia	10.2
15	hemolytic anemia	10.2
16	acute graft versus host disease	10.2
17	immune deficiency disease	10.2
18	incontinentia pigmenti	10.2
19	osteopetrosis	10.1
20	duodenal atresia	10.0
21	shigellosis	9.6	NFKBIA IKBKG
22	t-cell lymphoblastic leukemia/lymphoma	9.5	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 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	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	Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. ⁶	Rae W...Williams AP	29077208	2018
7	Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. ⁶	Staples E...Thaventhiran JED	28417298	2017
8	Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. ⁶	Lee AJ...Boisson-Dupuis S	26888281	2016
9	Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura. ⁶	Ramirez-Alejo N...Santos-Argumedo L	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	Haverkamp MH...Holland SM	24682681	2014
11	Anhidrotic ectodermal dysplasia: a new mutation. ⁶	Giancane G...Duse M	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	Yoshioka T...Heike T	23864385	2013
13	A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. ⁶	Schimke LF...Torgerson TR	23708964	2013
14	New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. ⁶	Hubeau M...Bustamante J	21622647	2011
15	Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. ⁶	Hanson EP...Orange JS	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	Lopez-Granados E...Jain A	18412279	2008
17	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
18	IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease. ⁶	Ku CL...Casanova JL	16950813	2007
19	Mutations in the NF-kappaB signaling pathway: implications for human disease. ⁶	Courtois G...Gilmore TD	17072331	2006
20	X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. ⁶	Filipe-Santos O...Casanova JL	16818673	2006
21	The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. ⁶	Puel A...Casanova JL	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	Vinolo E...Agou F	16379012	2006
23	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
24	NEMO mutations in 2 unrelated boys with severe infections and conical teeth. ⁶	Ku CL...Casanova JL	15833888	2005
25	The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. ⁶	Janssen R...Lankester A	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	Nishikomori R...Nakahata T	14726382	2004
27	The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. ⁶	Orange JS...Bonilla FA	15100680	2004
28	A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. ⁶	Courtois G...Casanova JL	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	Aradhya S...Nelson DL	11179023	2001
30	X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. ⁶	Doffinger R...Casanova JL	11242109	2001
31	Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. ⁶	Jain A...Strober W	11224521	2001
32	Familial linear and whorled nevoid hypermelanosis. ⁶	Akiyama M...Sugiura M	8169255	1994
33	Transient B cell immaturity with intractable diarrhoea: a possible new immunodeficiency syndrome. ⁶	Lie SO...Steen-Johnsen J	117248	1978
34	BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. ⁶¹	Darbinyan A...Tsankova NM	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	Giardino G...Pignata C	26307434	2015
36	Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections. ⁶¹	Carlberg VM...Krol AL	23405946	2014
37	A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). ⁶¹	Roberts CM...Ravenscroft JC	20499091	2010
38	The zinc finger domain of IKKγ (NEMO) protein in health and disease. ⁶¹	Shifera AS	20345847	2010
39	Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency. ⁶¹	Minakawa S...Sawamura D	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	Shifera AS...Horwitz MS	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	Souto-Carneiro MM...Lipsky PE	18178844	2008
42	Preimplantation diagnosis for immunodeficiencies. ⁶¹	Verlinsky Y...Kuliev A	17298726	2007
43	Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected]. ⁶¹	Wu CJ...Ashwell JD	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	Tang ED...Guan KL	12867425	2003
45	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 29077208 16818673 16532398 18851874 16950813 24682681 21622647 26117626 15833888 17072331
2	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	750	Pathogenic ⁶ Causative germline mutation ⁵⁸	29948576 28417298 23864385 (more) 26888281 23708964 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 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

Sources

Expression for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

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

Sources

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	Deubiquitination ⁶⁵ Show member pathways Ub-specific processing proteases ⁶⁵	12.46	NFKBIA IKBKG
2	Measles ³⁶ Show member pathways Epstein-Barr virus infection ³⁶ Influenza A ³⁶	12.45	NFKBIA IKBKG
3	Herpes simplex virus 1 infection ³⁶	12.43	NFKBIA IKBKG
4	Endometrial cancer ³⁶ Show member pathways Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁵ Chronic myeloid leukemia ³⁶ Colorectal cancer ³⁶ Pancreatic cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²³ Thyroid cancer ³⁶	12.42	NFKBIA IKBKG
5	Salmonella infection (KEGG) ³⁶ Show member pathways Pathogenic Escherichia coli 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	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
8	NF-KappaB Family Pathway ⁶³ Show member pathways NF-KappaB (p50-p65) Pathway ⁶³	12.35	NFKBIA IKBKG
9	PKC-Theta Pathway ⁶³ Show member pathways ITK and TCR Signaling ⁶³ TCR Signaling ⁶³	12.32	NFKBIA IKBKG
10	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	12.32	NFKBIA IKBKG
11	G-AlphaQ Signaling ⁶³ Show member pathways G-AlphaI Signaling ⁶³ Thrombin Signaling ⁶³	12.31	NFKBIA IKBKG
12	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 Osteoclast differentiation ³⁶ RANK Pathway ⁶³ RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway ¹	12.3	NFKBIA IKBKG
13	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
14	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
15	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
16	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
17	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
18	Fc-GammaR Pathway ⁶³ Show member pathways Fc-EpsilonRI Pathway ⁶³ Fc-Gamma-RIIB Signaling in B-Cells ⁶³ PDGF Pathway ⁶³	12.24	NFKBIA IKBKG
19	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
20	NF-kappaB Signaling ⁴	12.22	NFKBIA IKBKG
21	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
22	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
23	Prolactin Signaling Pathway ¹ ³⁶ Show member pathways Development Prolactin receptor signaling ²³ Leptin signaling pathway ¹	12.14	NFKBIA IKBKG
24	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
25	Apoptosis Pathway ⁶⁹ Show member pathways Akt Pathway ⁶⁹ NF-kappaB Pathway ⁶⁹	12.11	NFKBIA IKBKG
26	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
27	Toll-Like receptor Signaling Pathways ⁶⁴ Show member pathways Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway ²³ Inflammasome Activation Pathways ⁶⁴ NOD-like Receptor Signaling Pathways ⁶⁴	12.09	NFKBIA IKBKG
28	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 Family Ligands and Receptor Interactions ⁶³	12.07	NFKBIA IKBKG
29	B cell receptor signaling pathway (KEGG) ³⁶ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.07	NFKBIA IKBKG
30	Shigellosis ³⁶	12.06	NFKBIA IKBKG
31	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
32	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
33	TCR signaling ⁶⁵ Show member pathways Downstream TCR signaling ⁶⁵	12.01	NFKBIA IKBKG
34	Human T-cell leukemia virus 1 infection ³⁶	12	NFKBIA IKBKG
35	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
36	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
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	11.96	NFKBIA IKBKG
39	Development EGFR signaling pathway ²³ Show member pathways Development ERBB-family signaling ²³ EGF Pathway ⁶³ ErbB receptor signaling network ¹	11.96	NFKBIA IKBKG
40	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
41	Toxoplasmosis ³⁶ Show member pathways Leishmaniasis ³⁶	11.91	NFKBIA IKBKG
42	NOD-like receptor signaling pathway ³⁶	11.89	NFKBIA IKBKG
43	IL-1 Family Signaling Pathways ⁶⁴ Show member pathways Immune response IL-1 signaling pathway ²³ Mucin expression in CF via TLRs, EGFR signaling pathways ²³	11.87	NFKBIA IKBKG
44	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
45	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
46	CNTF Signaling ⁶³ Show member pathways FLT3 Signaling ⁶³ IL-3 Pathway ⁶³	11.82	NFKBIA IKBKG
47	Brain-Derived Neurotrophic Factor (BDNF) signaling pathway ¹	11.76	NFKBIA IKBKG
48	Yersinia infection ³⁶	11.73	NFKBIA IKBKG
49	G12-G13 in Cellular Signaling ⁶³	11.67	NFKBIA IKBKG
50	MAPK Pathway ⁶⁹ Show member pathways Toll-like Receptor Pathway ⁶⁹	11.66	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

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