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

MCID: HYP643 MIFTS: 26	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 ⁵⁹

Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency ⁷³

Anhidrotic Ectodermal Dysplasia with Immunodeficiency ⁵⁹

Hed-Id ⁵⁹

Eda-Id ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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: ³⁴

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: ⁵⁹

Rare eye diseases

Rare skin diseases

Developmental anomalies during embryogenesis

Rare immunological diseases

Rare odontological diseases

External Ids:

Orphanet ⁵⁹ ORPHA98813

UMLS via Orphanet ⁷⁴ C1846006

ICD10 via Orphanet ³⁴ D82.8

UMLS ⁷³ 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, hypohidrotic, with immune deficiency. An important gene associated with Hypohidrotic Ectodermal Dysplasia with Immunodeficiency is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma), and among its related pathways/superpathways are Apoptosis Modulation and Signaling and Influenza A. Affiliated tissues include skin, eye and t 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:

#	Related Disease	Score	Top Affiliating Genes
1	ectodermal dysplasia	29.9	IKBKG NFKBIA
2	ectodermal dysplasia, hypohidrotic, with immune deficiency	11.7
3	ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema	11.4
4	ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant	11.4
5	osteopetrosis	10.3
6	colitis	10.2
7	ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	10.2
8	duodenal atresia	10.2
9	t-cell leukemia	9.7	IKBKG NFKBIA

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

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.28	IKBKG
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	9.28	NFKBIA
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-122	9.28	NFKBIA
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-127	9.28	IKBKG
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	9.28	IKBKG
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-29	9.28	IKBKG
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-49	9.28	IKBKG
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-56	9.28	IKBKG 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:

⁴¹

Skin, Eye, T Cells

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Publications for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Articles related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

#	Title	Authors	Year
1	Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency. ( 19663838 )		2009

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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	PubmedIds
1	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma	Protein Coding	750	Pathogenic ⁶ Causative germline mutation ⁵⁹
2	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	350	Causative germline mutation ⁵⁹

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Variations for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

ClinVar genetic disease variations for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

⁶ (show all 32)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	IKBKG	NM_003639.4(IKBKG): c.1171G> T (p.Glu391Ter)	single nucleotide variant	Pathogenic	rs137853324	GRCh37	Chromosome X, 153792587: 153792587
2	IKBKG	NM_003639.4(IKBKG): c.1171G> T (p.Glu391Ter)	single nucleotide variant	Pathogenic	rs137853324	GRCh38	Chromosome X, 154564372: 154564372
3	IKBKG	NM_003639.4(IKBKG): c.1249T> C (p.Cys417Arg)	single nucleotide variant	Pathogenic	rs137853325	GRCh37	Chromosome X, 153792665: 153792665
4	IKBKG	NM_003639.4(IKBKG): c.1249T> C (p.Cys417Arg)	single nucleotide variant	Pathogenic	rs137853325	GRCh38	Chromosome X, 154564450: 154564450
5	IKBKG	IKBKG, 1-BP DUP, 1167C	duplication	Pathogenic
6	IKBKG	NM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe)	single nucleotide variant	Pathogenic	rs137853326	GRCh37	Chromosome X, 153792666: 153792666
7	IKBKG	NM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe)	single nucleotide variant	Pathogenic	rs137853326	GRCh38	Chromosome X, 154564451: 154564451
8	IKBKG	NM_003639.4(IKBKG): c.1217A> T (p.Asp406Val)	single nucleotide variant	Pathogenic	rs137853327	GRCh37	Chromosome X, 153792633: 153792633
9	IKBKG	NM_003639.4(IKBKG): c.1217A> T (p.Asp406Val)	single nucleotide variant	Pathogenic	rs137853327	GRCh38	Chromosome X, 154564418: 154564418
10	IKBKG	IKBKG, 4.4-KB DUP	duplication	Pathogenic
11	IKBKG	NM_003639.4(IKBKG): c.458T> G (p.Leu153Arg)	single nucleotide variant	Pathogenic	rs137853328	GRCh37	Chromosome X, 153786805: 153786805
12	IKBKG	NM_003639.4(IKBKG): c.458T> G (p.Leu153Arg)	single nucleotide variant	Pathogenic	rs137853328	GRCh38	Chromosome X, 154558590: 154558590
13	IKBKG	NM_003639.4(IKBKG): c.1207C> T (p.Gln403Ter)	single nucleotide variant	Pathogenic	rs137853329	GRCh37	Chromosome X, 153792623: 153792623
14	IKBKG	NM_003639.4(IKBKG): c.1207C> T (p.Gln403Ter)	single nucleotide variant	Pathogenic	rs137853329	GRCh38	Chromosome X, 154564408: 154564408
15	IKBKG	IKBKG, IVS6DS, G-A, +5	single nucleotide variant	Pathogenic
16	IKBKG	IKBKG, 1-BP INS, 1409A	insertion	Pathogenic
17	IKBKG	NM_003639.4(IKBKG): c.1056-18C> T	single nucleotide variant	Uncertain significance	rs386134237	GRCh37	Chromosome X, 153792156: 153792156
18	IKBKG	NM_003639.4(IKBKG): c.1056-18C> T	single nucleotide variant	Uncertain significance	rs386134237	GRCh38	Chromosome X, 154563941: 154563941
19	IKBKG	NM_003639.4(IKBKG): c.1056-6T> C	single nucleotide variant	Uncertain significance	rs5945206	GRCh37	Chromosome X, 153792168: 153792168
20	IKBKG	NM_003639.4(IKBKG): c.1056-6T> C	single nucleotide variant	Uncertain significance	rs5945206	GRCh38	Chromosome X, 154563953: 154563953
21	IKBKG	NM_003639.4(IKBKG): c.265_267delGAG (p.Glu89del)	deletion	Likely pathogenic	rs386134238	GRCh37	Chromosome X, 153784457: 153784459
22	IKBKG	NM_003639.4(IKBKG): c.265_267delGAG (p.Glu89del)	deletion	Likely pathogenic	rs386134238	GRCh38	Chromosome X, 154556242: 154556244
23	IKBKG	NM_003639.4(IKBKG): c.399+19G> C	single nucleotide variant	Uncertain significance	rs386134239	GRCh37	Chromosome X, 153784610: 153784610
24	IKBKG	NM_003639.4(IKBKG): c.399+19G> C	single nucleotide variant	Uncertain significance	rs386134239	GRCh38	Chromosome X, 154556395: 154556395
25	IKBKG	NM_003639.4(IKBKG): c.470A> C (p.Gln157Pro)	single nucleotide variant	Likely pathogenic	rs386134240	GRCh37	Chromosome X, 153786817: 153786817
26	IKBKG	NM_003639.4(IKBKG): c.470A> C (p.Gln157Pro)	single nucleotide variant	Likely pathogenic	rs386134240	GRCh38	Chromosome X, 154558602: 154558602
27	IKBKG	NM_003639.4(IKBKG): c.518+7C> T	single nucleotide variant	Uncertain significance	rs386134241	GRCh37	Chromosome X, 153786872: 153786872
28	IKBKG	NM_003639.4(IKBKG): c.518+7C> T	single nucleotide variant	Uncertain significance	rs386134241	GRCh38	Chromosome X, 154558657: 154558657
29	IKBKG	NM_003639.4(IKBKG): c.931G> A (p.Asp311Asn)	single nucleotide variant	Likely pathogenic	rs179363867	GRCh37	Chromosome X, 153791792: 153791792
30	IKBKG	NM_003639.4(IKBKG): c.931G> A (p.Asp311Asn)	single nucleotide variant	Likely pathogenic	rs179363867	GRCh38	Chromosome X, 154563577: 154563577
31	IKBKG	NM_003639.4(IKBKG): c.185G> A (p.Arg62Gln)	single nucleotide variant	Likely pathogenic	rs782604431	GRCh38	Chromosome X, 154552187: 154552187
32	IKBKG	NM_003639.4(IKBKG): c.185G> A (p.Arg62Gln)	single nucleotide variant	Likely pathogenic	rs782604431	GRCh37	Chromosome X, 153780402: 153780402

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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	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ¹ Apoptosis ³⁷ Apoptosis and survival Apoptotic TNF-family pathways ²² Apoptosis Signaling Pathways ⁶⁵ Death Receptor Signaling ⁶⁷	12.44	IKBKG NFKBIA
2	Influenza A ³⁷ Show member pathways Herpes simplex infection ³⁷ Measles ³⁷	12.42	IKBKG NFKBIA
3	RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways ⁶⁶ Show member pathways Cytosolic DNA-sensing pathway ³⁷ Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway ²² Negative regulators of RIG-I/MDA5 signaling ⁶⁶ NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 ⁶⁶ RIG-I-like Receptor Signaling ¹ RIG-I-like receptor signaling pathway ³⁷ TRAF3-dependent IRF activation pathway ⁶⁶ TRAF6 mediated IRF7 activation ⁶⁶ Virus Detection and Induction of Antiviral Signaling Pathways by RIG-I-like Receptors (RLR) ⁶⁵	12.4	IKBKG NFKBIA
4	Downstream signaling events of B Cell Receptor (BCR) ⁶⁶ Show member pathways Activation of RAS in B cells ⁶⁶ Signaling by the B Cell Receptor (BCR) ⁶⁶	12.37	IKBKG NFKBIA
5	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.34	IKBKG NFKBIA
6	4-1BB Pathway ⁶⁴ Show member pathways CD27 Pathway ⁶⁴ CD40 Signaling ⁶⁴ CMV and MAPK Pathways ⁶⁴ NF-KappaB Activation by EBV ⁶⁴ NF-kappaB Activation by Viruses ⁶⁴ PKR Pathway ⁶⁴ SUMO Pathway ⁶⁴ TNFR2 Pathway ⁶⁴	12.32	IKBKG NFKBIA
7	Development Endothelin-1/EDNRA signaling ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA transactivation of EGFR ²² GnRH signaling pathway ³⁷ Inflammatory mediator regulation of TRP channels ³⁷	12.31	IKBKG NFKBIA
8	G-AlphaQ Signaling ⁶⁴ Show member pathways G-AlphaI Signaling ⁶⁴ Thrombin Signaling ⁶⁴	12.31	IKBKG NFKBIA
9	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.28	IKBKG NFKBIA
10	TRAF Pathway ⁶⁴ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ Toll-Like Receptors Pathway ⁶⁴	12.26	IKBKG NFKBIA
11	Th17 cell differentiation ³⁷ Show member pathways IL-22 Pathway ⁶⁴ Immune response IL-22 signaling pathway ²² Inflammatory bowel disease (IBD) ³⁷ Th1 and Th2 cell differentiation ³⁷	12.26	IKBKG NFKBIA
12	Immune response IL-23 signaling pathway ²² Show member pathways Angiopoietin receptor Tie2-mediated signaling ¹ Angiopoietin-TIE2 Signaling ⁶⁴ Development Angiopoietin - Tie2 signaling ²² Development PDGF signaling via STATs and NF-kB ²² IL23-mediated signaling events ¹ Immune response IL-10 signaling pathway ²² Rac1/Pak1/p38/MMP-2 pathway ¹	12.25	IKBKG NFKBIA
13	Immune response Fc epsilon RI pathway ²² Show member pathways Fc epsilon RI signaling pathway ³⁷ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²² VEGF signaling pathway ³⁷	12.25	IKBKG NFKBIA
14	NF-kappaB Signaling ⁴	12.22	IKBKG NFKBIA
15	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ¹	12.2	IKBKG NFKBIA
16	Prolactin Signaling Pathway ¹ ³⁷ Show member pathways Development Prolactin receptor signaling ²² Leptin signaling pathway ¹	12.16	IKBKG NFKBIA
17	Insulin receptor recycling ⁶⁶ Show member pathways Collecting duct acid secretion ³⁷ Epithelial cell signaling in Helicobacter pylori infection ³⁷ Iron uptake and transport ⁶⁶ ROS, RNS production in phagocytes ⁶⁶ Transferrin endocytosis and recycling ⁶⁶ Vibrio cholerae infection ³⁷	12.15	IKBKG NFKBIA
18	Apoptosis Pathway ⁷² Show member pathways Akt Pathway ⁷² NF-kappaB Pathway ⁷²	12.12	IKBKG NFKBIA
19	Development FGFR signaling pathway ²² Show member pathways Development FGF-family signaling ²² Development Flt3 signaling ²² FGF Pathway ⁶⁴	12.11	IKBKG NFKBIA
20	RANK Signaling in Osteoclasts ⁶⁴ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²² APRIL Pathway ⁶⁴ BAFF in B-Cell Signaling ⁶⁴ RANK Pathway ⁶⁴ RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway ¹	12.1	IKBKG NFKBIA
21	CLEC7A (Dectin-1) signaling ⁶⁶ Show member pathways Alternative NF-kappaB pathway ¹ CLEC7A/inflammasome pathway ⁶⁶ C-type lectin receptors (CLRs) ⁶⁶	12.1	IKBKG NFKBIA
22	Cytosolic sensors of pathogen-associated DNA ⁶⁶ Show member pathways DEx/H-box helicases activate type I IFN and inflammatory cytokines production ⁶⁶ IkBA variant leads to EDA-ID ⁶⁶ IKBKB deficiency causes SCID ⁶⁶ IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) ⁶⁶ IRF3 mediated activation of type 1 IFN ⁶⁶ IRF3-mediated induction of type I IFN ⁶⁶ LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production ⁶⁶ Regulation by TREX1 ⁶⁶ Regulation of innate immune responses to cytosolic DNA ⁶⁶ RIP-mediated NFkB activation via ZBP1 ⁶⁶ STAT6-mediated induction of chemokines ⁶⁶ STING mediated induction of host immune responses ⁶⁶ TAK1 activates NFkB by phosphorylation and activation of IKKs complex ⁶⁶ TRAF6 mediated NF-kB activation ⁶⁶ ZBP1(DAI) mediated induction of type I IFNs ⁶⁶	12.1	IKBKG NFKBIA
23	T cell receptor signaling pathway ³⁷ Show member pathways T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.1	IKBKG NFKBIA
24	Human T-cell leukemia virus 1 infection ³⁷	12.09	IKBKG NFKBIA
25	VEGF Pathway (Qiagen) ²² Show member pathways CCKBR-Gastrin Stimulated Signaling ⁶⁴ Neurophilin interactions with VEGF and VEGFR ⁶⁶ VEGF Family Ligands and Receptor Interactions ⁶⁴ VEGF Pathway ⁶⁴	12.08	IKBKG NFKBIA
26	Development VEGF signaling via VEGFR2 - generic cascades ²² Show member pathways Development VEGF signaling and activation ²² VEGF - VEGF R2 Signaling Pathways ⁶⁵	12.07	IKBKG NFKBIA
27	ICos-ICosL Pathway in T-Helper Cell ⁶⁴ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁴ CD28 Signaling in T-Helper Cell ⁶⁴	12.06	IKBKG NFKBIA
28	B cell receptor signaling pathway (KEGG) ³⁷ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.05	IKBKG NFKBIA
29	TCR signaling (REACTOME) ⁶⁶ Show member pathways Downstream TCR signaling ⁶⁶	12.02	IKBKG NFKBIA
30	CNTF Signaling ⁶⁴ Show member pathways FLT3 Signaling ⁶⁴ IL-3 Pathway ⁶⁴ Nur77-Induced AICD in Macrophage ⁶⁴ OSM Pathway ⁶⁴	12	IKBKG NFKBIA
31	IL-17 Family Signaling Pathways ⁶⁵ Show member pathways IL17 signaling pathway ¹ IL-17 signaling pathway ³⁷ Interleukin-17 signaling ⁶⁶ Mucin expression in CF via IL-6, IL-17 signaling pathways ²²	11.99	IKBKG NFKBIA
32	Toll Comparative Pathway ⁶⁴ Show member pathways IL-1 Pathway ⁶⁴ Immune response MIF in innate immunity response ²² iNOS Signaling ⁶⁴ TLR-TRIF Pathway ⁶⁴	11.98	IKBKG NFKBIA
33	IL-1 signaling pathway ¹ Show member pathways IL1-mediated signaling events ¹ Interleukin-1 signaling ⁶⁶ MAP3K8 (TPL2)-dependent MAPK1/3 activation ⁶⁶ Structural Pathway of Interleukin 1 (IL-1) ¹	11.96	IKBKG NFKBIA
34	Epstein-Barr virus infection ³⁷	11.95	IKBKG NFKBIA
35	Viral carcinogenesis ³⁷	11.95	IKBKG NFKBIA
36	G-protein signaling Ras family GTPases in kinase cascades (scheme) ²² Show member pathways Activation of the AP-1 family of transcription factors ⁶⁶ Immune response Oncostatin M signaling via MAPK in human cells ²² MAPK Cascade ¹ Oncostatin M Signaling Pathway ¹	11.92	IKBKG NFKBIA
37	Diseases associated with the TLR signaling cascade ⁶⁶ Show member pathways Diseases of Immune System ⁶⁶ Interleukin-1 Induced Activation of NF-kappa-B ¹ IRAK1 recruits IKK complex ⁶⁶ IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation ⁶⁶ IRAK4 deficiency (TLR2/4) ⁶⁶ IRAK4 deficiency (TLR5) ⁶⁶ MyD88 deficiency (TLR2/4) ⁶⁶ MyD88 deficiency (TLR5) ⁶⁶ Simplified Depiction of MYD88 Distinct Input-Output Pathway ¹ TLR4 Signaling and Tolerance ¹ Toll-like Receptor Signaling ¹	11.92	IKBKG NFKBIA
38	Toxoplasmosis ³⁷ Show member pathways Leishmaniasis ³⁷	11.91	IKBKG NFKBIA
39	IL-1 Family Signaling Pathways ⁶⁵ Show member pathways Immune response IL-1 signaling pathway ²² Mucin expression in CF via TLRs, EGFR signaling pathways ²²	11.87	IKBKG NFKBIA
40	C-type lectin receptor signaling pathway ³⁷ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁵	11.86	IKBKG NFKBIA
41	Bacterial infections in CF airways ²² Show member pathways IL-1 beta-dependent CFTR expression ²² Immune response Bacterial infections in normal airways ²² Immune response TLR signaling pathways ²²	11.83	IKBKG NFKBIA
42	Immune response Function of MEF2 in T lymphocytes ²² Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²²	11.78	IKBKG NFKBIA
43	Brain-Derived Neurotrophic Factor (BDNF) signaling pathway ¹	11.77	IKBKG NFKBIA
44	Hepatitis C ³⁷	11.72	IKBKG NFKBIA
45	Osteoclast differentiation ³⁷	11.7	IKBKG NFKBIA
46	G12-G13 in Cellular Signaling ⁶⁴	11.67	IKBKG NFKBIA
47	MAPK Pathway ⁷² Show member pathways Toll-like Receptor Pathway ⁷²	11.67	IKBKG NFKBIA
48	TNF signaling pathway ³⁷	11.61	IKBKG NFKBIA
49	NF-kappa B signaling pathway ³⁷	11.54	IKBKG NFKBIA
50	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.52	IKBKG NFKBIA

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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	viral process	GO:0016032	9.26	IKBKG NFKBIA
2	protein deubiquitination	GO:0016579	9.16	IKBKG NFKBIA
3	I-kappaB kinase/NF-kappaB signaling	GO:0007249	8.96	IKBKG NFKBIA
4	interleukin-1-mediated signaling pathway	GO:0070498	8.62	IKBKG NFKBIA

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	IKBKG NFKBIA

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