Myd88 Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MYD002 MIFTS: 48	Myd88 Deficiency Categories: Genetic diseases, Rare diseases, Blood diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Myd88 Deficiency

MalaCards integrated aliases for Myd88 Deficiency:

Name: Myd88 Deficiency ⁵⁷ ⁵³ ²⁵ ⁵⁹ ⁷⁵ ²⁹ ⁶ ⁴⁰ ⁷³

Pyogenic Bacterial Infections Due to Myd88 Deficiency ⁵³ ²⁵ ⁵⁹

Myd88d ⁵⁷ ⁷⁵

Pyogenic Bacterial Infections, Recurrent, Due to Myd88 Deficiency ³⁷

Characteristics:

Orphanet epidemiological data:

⁵⁹

pyogenic bacterial infections due to myd88 deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood;

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood 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

Other immunodeficiencies

Other specified immunodeficiencies

Orphanet: ⁵⁹

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 612260

Orphanet ⁵⁹ ORPHA183713

ICD10 via Orphanet ³⁴ D84.8

UMLS via Orphanet ⁷⁴ C2677092

MedGen ⁴² C2677092

KEGG ³⁷ H00721

SNOMED-CT via HPO ⁶⁹ 386661006 50177009 234532001

UMLS ⁷³ C2677092

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Summaries for Myd88 Deficiency

Genetics Home Reference : ²⁵ MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This primary immunodeficiency affects the innate immune response, which is the body's early, nonspecific response to foreign invaders (pathogens). MyD88 deficiency leads to abnormally frequent and severe infections by a subset of bacteria known as pyogenic bacteria. (Infection with pyogenic bacteria causes the production of pus.) However, affected individuals have normal resistance to other common bacteria, viruses, fungi, and parasites. The most common infections in MyD88 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent by about age 10.

MalaCards based summary : Myd88 Deficiency, also known as pyogenic bacterial infections due to myd88 deficiency, is related to ocular toxoplasmosis and invasive pneumococcal disease, recurrent isolated, 1. An important gene associated with Myd88 Deficiency is MYD88 (Myeloid Differentiation Primary Response 88), and among its related pathways/superpathways are Apoptosis and Toll-like receptor signaling pathway. Affiliated tissues include myeloid, skin and kidney, and related phenotypes are fever and immunodeficiency

UniProtKB/Swiss-Prot : ⁷⁵ MYD88 deficiency: Patients suffer from autosomal recessive, life-threatening, often recurrent pyogenic bacterial infections, including invasive pneumococcal disease, and die between 1 and 11 months of age. Surviving patients are otherwise healthy, with normal resistance to other microbes, and their clinical status improved with age.

NIH Rare Diseases : ⁵³ MYD88 deficiency is a rare primary immunodeficiency characterized by an increased susceptibility to certain types of bacterial infections. People affected by this condition generally have abnormally frequent and life-threatening infections caused by pyogenic bacteria (such as Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa). However, their immune response to other common bacteria, viruses, fungi, and parasites is normal. MYD88 deficiency is caused by changes (mutations) in the MYD88 gene and is inherited in an autosomal recessive manner. Management is focused on the prevention and early treatment of infections with appropriate antibiotics.

Wikipedia : ⁷⁶ Myeloid differentiation primary response 88 (MYD88) is a protein that, in humans, is encoded by the... more...

Description from OMIM: 612260

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Related Diseases for Myd88 Deficiency

Diseases related to Myd88 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)

#	Related Disease	Score	Top Affiliating Genes
1	ocular toxoplasmosis	10.5	TLR1 TLR5
2	invasive pneumococcal disease, recurrent isolated, 1	10.5	IRAK4 TIRAP
3	prosthetic joint infection	10.4	TLR2 TLR4
4	mesenteric lymphadenitis	10.4	MYD88 TLR2
5	mycobacterium abscessus	10.3	TLR1 TLR2
6	trench fever	10.3	TLR2 TLR4
7	acute cervicitis	10.3	TLR2 TLR4
8	mycobacterium chelonae	10.3	CD14 TLR2
9	mycobacterium kansasii	10.2	CD14 TLR2
10	pleuropneumonia	10.2	IRAK4 MYD88
11	myositis fibrosa	10.2	MYD88 TLR2 TLR4
12	alveolar echinococcosis	10.1	TLR2 TLR4
13	plasma protein metabolism disease	10.1	BTK MYD88
14	suppurative otitis media	10.1	TLR2 TLR4 TLR5
15	neisseria meningitidis infection	10.1	TLR2 TLR4
16	septic arthritis	10.1	TLR2 TLR4 TLR5
17	ileitis	10.1	TLR2 TLR4 TLR5
18	mycobacterium tuberculosis 1	10.1	MYD88 TLR2 TLR4
19	q fever	10.0	TLR1 TLR2 TLR4
20	scrub typhus	10.0	TLR2 TLR4
21	pneumonia	10.0	TLR2 TLR4 TLR5
22	bacteriuria	9.9	TIRAP TLR1 TLR4
23	legionellosis	9.8	MYD88 TLR2 TLR4 TLR5
24	ariboflavinosis	9.7	TLR4 TLR6
25	aortic aneurysm, familial abdominal, 1	9.7
26	alzheimer disease	9.7
27	anxiety	9.7
28	chlamydia	9.7
29	lymphadenitis	9.7
30	aortic aneurysm	9.7
31	syphilis	9.7
32	amyloidosis	9.7
33	aneurysm	9.7
34	middle ear disease	9.7	TLR2 TLR4
35	neurosyphilis	9.6	TLR1 TLR2 TLR6
36	legionnaires' disease	9.6	TLR4 TLR5 TLR6
37	lyme disease	9.5	TLR1 TLR2 TLR6
38	malaria	9.2	CD36 MYD88 TIRAP TLR2 TLR4
39	melioidosis	9.1	LY96 TLR1 TLR2 TLR4 TLR5
40	penicilliosis	9.1	TLR1 TLR2 TLR4 TLR6
41	invasive aspergillosis	9.1	TLR1 TLR2 TLR4 TLR6
42	filariasis	9.1	TLR1 TLR2 TLR4 TLR6
43	pelvic inflammatory disease	8.6	TIRAP TLR1 TLR2 TLR4 TLR6
44	irak4 deficiency	5.2	BTK CD14 CD36 IRAK4 LY96 MYD88

Graphical network of the top 20 diseases related to Myd88 Deficiency:

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Symptoms & Phenotypes for Myd88 Deficiency

Clinical features from OMIM:

612260

Human phenotypes related to Myd88 Deficiency:

⁵⁹ ³²

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	fever ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001945
2	immunodeficiency ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002721
3	recurrent bacterial skin infections ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0005406

MGI Mouse Phenotypes related to Myd88 Deficiency:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	9.97	ACAA1 BTK CD14 CD36 IRAK4 LY96
2	adipose tissue	MP:0005375	9.8	CD14 CD36 MYD88 TLR2 TLR4 TLR5
3	digestive/alimentary	MP:0005381	9.73	CD36 MYD88 TLR2 TLR4 TLR5 BTK
4	homeostasis/metabolism	MP:0005376	9.65	ACAA1 BTK CD14 CD36 IRAK4 MYD88
5	immune system	MP:0005387	9.4	BTK CD14 CD36 IRAK4 LY96 MYD88

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Drugs & Therapeutics for Myd88 Deficiency

Search Clinical Trials , NIH Clinical Center for Myd88 Deficiency

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Genetic Tests for Myd88 Deficiency

Genetic tests related to Myd88 Deficiency:

#	Genetic test	Affiliating Genes
1	Myd88 Deficiency ²⁹	MYD88

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Anatomical Context for Myd88 Deficiency

MalaCards organs/tissues related to Myd88 Deficiency:

⁴¹

Myeloid, Skin, Kidney, T Cells, Salivary Gland, Nk Cells, Monocytes

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Publications for Myd88 Deficiency

Articles related to Myd88 Deficiency:

(show all 19)

#	Title	Authors	Year
1	Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis. ( 26632527 )	Giardino G....Pignata C.	2016
2	Natural Killer Cell Sensing of Infected Cells Compensates for MyD88 Deficiency but Not IFN-I Activity in Resistance to Mouse Cytomegalovirus. ( 25954804 )	Cocita C....Dalod M.	2015
3	Recipient Myd88 Deficiency Promotes Spontaneous Resolution of Kidney Allograft Rejection. ( 25788530 )	Lerret N.M....Zhang Z.	2015
4	IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens. ( 25320238 )	Maglione P.J....Cunningham-Rundles C.	2014
5	MyD88 deficiency alters expression of antimicrobial factors in mouse salivary glands. ( 25415419 )	Into T....Shibata K.	2014
6	MyD88 deficiency markedly worsens tissue inflammation and bacterial clearance in mice infected with Treponema pallidum, the agent of syphilis. ( 23940747 )	Silver A.C....Fikrig E.	2013
7	The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands. ( 23857504 )	Uaesoontrachoon K....Nagaraju K.	2013
8	The effects of MyD88 deficiency on exploratory activity, anxiety, motor coordination, and spatial learning in C57BL/6 and APPswe/PS1dE9 mice. ( 22051943 )	Lim J.E....Fukuchi K.	2012
9	MyD88 deficiency results in both cognitive and motor impairments in mice. ( 22401992 )	Drouin-Ouellet J....Cicchetti F.	2012
10	MyD88 deficiency ameliorates I^-amyloidosis in an animal model of Alzheimer's disease. ( 21763676 )	Lim J.E....Fukuchi K.	2011
11	MyD88 deficiency leads to decreased NK cell gamma interferon production and T cell recruitment during Chlamydia muridarum genital tract infection, but a predominant Th1 response and enhanced monocytic inflammation are associated with infection resolution. ( 21078858 )	Nagarajan U.M....Darville T.	2011
12	Myd88 deficiency influences murine tracheal epithelial metaplasia and submucosal gland abundance. ( 21557220 )	Giangreco A....Janes S.M.	2011
13	MyD88 deficiency attenuates angiotensin II-induced abdominal aortic aneurysm formation independent of signaling through Toll-like receptors 2 and 4. ( 21960563 )	Owens A.P....Daugherty A.	2011
14	Myeloid differentiation primary response gene 88 (MyD88) deficiency in a large kindred. ( 20538326 )	Conway D.H....Sullivan K.E.	2010
15	Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. ( 21057262 )	Picard C....Casanova J.L.	2010
16	Myeloid differentiation factor 88 (MyD88)-deficiency increases risk of diabetes in mice. ( 20824098 )	Hosoi T....Ozawa K.	2010
17	Pyogenic bacterial infections in humans with MyD88 deficiency. ( 18669862 )	von Bernuth H....Casanova J.-L.	2008
18	MyD88 deficiency results in tissue-specific changes in cytokine induction and inflammation in interleukin-18-independent mice infected with Borrelia burgdorferi. ( 16495516 )	Behera A.K....Hu L.T.	2006
19	MyD88 deficiency enhances acquisition and transmission of Borrelia burgdorferi by Ixodes scapularis ticks. ( 16552045 )	Bockenstedt L.K....Fish D.	2006

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Genes for Myd88 Deficiency

Genes related to Myd88 Deficiency (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MYD88	Myeloid Differentiation Primary Response 88	Protein Coding	1696.55	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Pathways & Interactions Variants (show sections)	18669862
2	IRAK4	Interleukin 1 Receptor Associated Kinase 4	Protein Coding	25.9	GeneCards inferred via : Publications Pathways & Interactions (show sections)
3	ACAA1	Acetyl-CoA Acyltransferase 1	Protein Coding	17.59	GeneCards inferred via : Variants (show sections)
4	TLR5	Toll Like Receptor 5	Protein Coding	17.15	GeneCards inferred via : Pathways & Interactions (show sections)
5	CD36	CD36 Molecule	Protein Coding	17.15	GeneCards inferred via : Pathways & Interactions (show sections)
6	TLR1	Toll Like Receptor 1	Protein Coding	17.15	GeneCards inferred via : Pathways & Interactions (show sections)
7	TLR2	Toll Like Receptor 2	Protein Coding	17.15	GeneCards inferred via : Pathways & Interactions (show sections)
8	TLR4	Toll Like Receptor 4	Protein Coding	17.15	GeneCards inferred via : Pathways & Interactions (show sections)
9	TIRAP	TIR Domain Containing Adaptor Protein	Protein Coding	17.15	GeneCards inferred via : Pathways & Interactions (show sections)
10	LY96	Lymphocyte Antigen 96	Protein Coding	17.15	GeneCards inferred via : Pathways & Interactions (show sections)
11	BTK	Bruton Tyrosine Kinase	Protein Coding	17.15	GeneCards inferred via : Pathways & Interactions (show sections)
12	TLR6	Toll Like Receptor 6	Protein Coding	17.15	GeneCards inferred via : Pathways & Interactions (show sections)
13	CD14	CD14 Molecule	Protein Coding	17.15	GeneCards inferred via : Pathways & Interactions (show sections)

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Variations for Myd88 Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Myd88 Deficiency:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	MYD88	p.Leu93Pro	VAR_047953
2	MYD88	p.Arg196Cys	VAR_047954

ClinVar genetic disease variations for Myd88 Deficiency:

⁶

(show all 23)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MYD88	NM_001172567.1(MYD88): c.317T> C (p.Leu106Pro)	single nucleotide variant	Pathogenic	rs137853065	GRCh37	Chromosome 3, 38180469: 38180469
2	MYD88	MYD88, 3-BP DEL, 160GAG	deletion	Pathogenic
3	MYD88	NM_001172567.1(MYD88): c.625C> T (p.Arg209Cys)	single nucleotide variant	Pathogenic	rs137853064	GRCh37	Chromosome 3, 38182001: 38182001
4	MYD88	NM_001172567.1(MYD88): c.625C> T (p.Arg209Cys)	single nucleotide variant	Pathogenic	rs137853064	GRCh38	Chromosome 3, 38140510: 38140510
5	MYD88	NM_001172567.1(MYD88): c.317T> C (p.Leu106Pro)	single nucleotide variant	Pathogenic	rs137853065	GRCh38	Chromosome 3, 38138978: 38138978
6	MYD88	NM_002468.4(MYD88): c.643A> C (p.Thr215Pro)	single nucleotide variant	Benign	rs191826554	GRCh37	Chromosome 3, 38182019: 38182019
7	MYD88	NM_002468.4(MYD88): c.643A> C (p.Thr215Pro)	single nucleotide variant	Benign	rs191826554	GRCh38	Chromosome 3, 38140528: 38140528
8	MYD88	NM_001172567.1(MYD88): c.16_34del19 (p.Ala6Profs)	deletion	Pathogenic		GRCh37	Chromosome 3, 38180168: 38180186
9	MYD88	NM_001172567.1(MYD88): c.16_34del19 (p.Ala6Profs)	deletion	Pathogenic		GRCh38	Chromosome 3, 38138677: 38138695
10	MYD88	NM_002468.4(MYD88): c.300C> T (p.Gly100=)	single nucleotide variant	Benign	rs373382593	GRCh37	Chromosome 3, 38180452: 38180452
11	MYD88	NM_002468.4(MYD88): c.300C> T (p.Gly100=)	single nucleotide variant	Benign	rs373382593	GRCh38	Chromosome 3, 38138961: 38138961
12	MYD88	NM_002468.4(MYD88): c.790C> T (p.Arg264Ter)	single nucleotide variant	Uncertain significance	rs748659894	GRCh38	Chromosome 3, 38141146: 38141146
13	MYD88	NM_002468.4(MYD88): c.790C> T (p.Arg264Ter)	single nucleotide variant	Uncertain significance	rs748659894	GRCh37	Chromosome 3, 38182637: 38182637
14	MYD88	NM_002468.4(MYD88): c.899C> T (p.Thr300Ile)	single nucleotide variant	Uncertain significance	rs138284536	GRCh37	Chromosome 3, 38182746: 38182746
15	MYD88	NM_002468.4(MYD88): c.899C> T (p.Thr300Ile)	single nucleotide variant	Uncertain significance	rs138284536	GRCh38	Chromosome 3, 38141255: 38141255
16	MYD88	NM_002468.4(MYD88): c.405G> T (p.Gln135His)	single nucleotide variant	Uncertain significance	rs372319724	GRCh37	Chromosome 3, 38181392: 38181392
17	MYD88	NM_002468.4(MYD88): c.75C> G (p.Ala25=)	single nucleotide variant	Benign	rs79867863	GRCh38	Chromosome 3, 38138736: 38138736
18	MYD88	NM_002468.4(MYD88): c.75C> G (p.Ala25=)	single nucleotide variant	Benign	rs79867863	GRCh37	Chromosome 3, 38180227: 38180227
19	MYD88	NM_002468.4(MYD88): c.405G> T (p.Gln135His)	single nucleotide variant	Uncertain significance	rs372319724	GRCh38	Chromosome 3, 38139901: 38139901
20	MYD88	NM_002468.4(MYD88): c.145T> C (p.Phe49Leu)	single nucleotide variant	Uncertain significance	rs372072898	GRCh37	Chromosome 3, 38180297: 38180297
21	MYD88	NM_002468.4(MYD88): c.145T> C (p.Phe49Leu)	single nucleotide variant	Uncertain significance	rs372072898	GRCh38	Chromosome 3, 38138806: 38138806
22	MYD88	NM_002468.4(MYD88): c.618G> A (p.Val206=)	single nucleotide variant	Benign	rs144836346	GRCh37	Chromosome 3, 38181994: 38181994
23	MYD88	NM_002468.4(MYD88): c.618G> A (p.Val206=)	single nucleotide variant	Benign	rs144836346	GRCh38	Chromosome 3, 38140503: 38140503

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Expression for Myd88 Deficiency

Search GEO for disease gene expression data for Myd88 Deficiency.

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Pathways for Myd88 Deficiency

Pathways related to Myd88 Deficiency according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Apoptosis	hsa04210
2	Toll-like receptor signaling pathway	hsa04620

Pathways related to Myd88 Deficiency according to GeneCards Suite gene sharing:

(show all 45)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.94	ACAA1 BTK CD14 CD36 IRAK4 LY96
2	HIV Life Cycle ⁶⁶ Show member pathways 2-LTR circle formation ⁶⁶ APOBEC3G mediated resistance to HIV-1 infection ⁶⁶ Assembly Of The HIV Virion ⁶⁶ Binding and entry of HIV virion ⁶⁶ Disease ⁶⁶ Diseases of signal transduction ⁶⁶ Early Phase of HIV Life Cycle ⁶⁶ HIV Infection ⁶⁶ Host Interactions of HIV factors ⁶⁶ Infectious disease ⁶⁶ Integration of provirus ⁶⁶ Late Phase of HIV Life Cycle ⁶⁶	13.67	BTK CD14 CD36 IRAK4 LY96 MYD88
3	Activated TLR4 signalling ⁶⁶ Show member pathways activated TAK1 mediates p38 MAPK activation ⁶⁶ Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon ⁶⁶ IRAK2 mediated activation of TAK1 complex ⁶⁶ IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation ⁶⁶ JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1 ⁶⁶ MAP kinase activation in TLR cascade ⁶⁶ MyD88 cascade initiated on plasma membrane ⁶⁶ MyD88 dependent cascade initiated on endosome ⁶⁶ MyD88-independent TLR3/TLR4 cascade ⁶⁶ MyD88-Mal cascade initiated on plasma membrane ⁶⁶ Regulation of TLR by endogenous ligand ⁶⁶ TICAM1 deficiency - HSE ⁶⁶ Toll Like Receptor 10 (TLR10) Cascade ⁶⁶ Toll Like Receptor 2 (TLR2) Cascade ⁶⁶ Toll Like Receptor 3 (TLR3) Cascade ⁶⁶ Toll Like Receptor 4 (TLR4) Cascade ⁶⁶ Toll Like Receptor 5 (TLR5) Cascade ⁶⁶ Toll Like Receptor 7/8 (TLR7/8) Cascade ⁶⁶ Toll Like Receptor 9 (TLR9) Cascade ⁶⁶ Toll Like Receptor TLR1-TLR2 Cascade ⁶⁶ Toll Like Receptor TLR6-TLR2 Cascade ⁶⁶ Toll-Like Receptors Cascades ⁶⁶ TRAF3 deficiency - HSE ⁶⁶ TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation ⁶⁶ TRAF6 mediated induction of TAK1 complex ⁶⁶ TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling ⁶⁶ Trafficking and processing of endosomal TLR ⁶⁶ Transfer of LPS from LBP carrier to CD14 ⁶⁶ TRIF-mediated programmed cell death ⁶⁶ TRIF-mediated TLR3/TLR4 signaling ⁶⁶	13.52	BTK CD14 CD36 IRAK4 LY96 MYD88
4	Class I MHC mediated antigen processing and presentation ⁶⁶ Show member pathways Adaptive Immune System ⁶⁶ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁶	13.44	BTK CD14 CD36 LY96 MYD88 TIRAP
5	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.4	BTK IRAK4 MYD88 TIRAP TLR1 TLR2
6	Toll-like Receptor Signaling Pathway ³⁷ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁷ NOD-like receptor signaling pathway ³⁷ NOD-like Receptor Signaling Pathways ⁶⁵ Regulation of toll-like receptor signaling pathway ¹	12.91	BTK CD14 IRAK4 LY96 MYD88 TIRAP
7	IL-2 Pathway ⁶⁴ Show member pathways HMGB1 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ TREM1 Pathway ⁶⁴	12.81	BTK CD14 IRAK4 MYD88 TLR1 TLR2
8	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	12.74	CD14 LY96 MYD88 TIRAP TLR4
9	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.74	IRAK4 MYD88 TLR1 TLR2 TLR4 TLR5
10	Influenza A ³⁷ Show member pathways Herpes simplex infection ³⁷ Measles ³⁷	12.68	IRAK4 MYD88 TLR2 TLR4
11	NF-kappaB Signaling ⁴	12.61	BTK IRAK4 MYD88 TLR1 TLR2 TLR6
12	Kaposi's sarcoma-associated herpesvirus infection ³⁷ Show member pathways Hepatitis B ³⁷	12.51	MYD88 TIRAP TLR2 TLR4
13	TRAF Pathway ⁶⁴ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ Toll-Like Receptors Pathway ⁶⁴	12.5	IRAK4 MYD88 TIRAP TLR1 TLR2 TLR4
14	Development FGFR signaling pathway ²² Show member pathways Development FGF-family signaling ²² Development Flt3 signaling ²² FGF Pathway ⁶⁴	12.49	CD14 IRAK4 LY96 MYD88 TIRAP TLR4
15	Development Slit-Robo signaling ²² Show member pathways Cell adhesion Gap junctions ²² Neurophysiological process Receptor-mediated axon growth repulsion ²² Pathogenic Escherichia coli infection ¹ Pathogenic Escherichia coli infection ³⁷	12.47	CD14 LY96 TLR4 TLR5
16	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	12.34	CD14 IRAK4 LY96 MYD88 TIRAP TLR4
17	Th1 Differentiation Pathway ⁶⁵ Show member pathways IL27-mediated signaling events ¹ IL-6-type cytokine receptor ligand interactions ⁶⁶ Interleukin-6 family signaling ⁶⁶ Interleukin-6 signaling ⁶⁶ Th17 Differentiation Pathway ⁶⁵	12.32	TLR1 TLR2 TLR4 TLR5 TLR6
18	Toxoplasmosis ³⁷ Show member pathways Leishmaniasis ³⁷	12.32	IRAK4 LY96 MYD88 TLR2 TLR4
19	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	12.31	BTK CD14 CD36 IRAK4 LY96 MYD88
20	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	12.29	IRAK4 MYD88 TIRAP TLR2 TLR5
21	Regulation by c-FLIP ⁶⁶ Show member pathways CASP8 activity is inhibited ⁶⁶ Caspase activation via extrinsic apoptotic signalling pathway ⁶⁶ Dimerization of procaspase-8 ⁶⁶ FAS (CD95) signaling pathway ¹ Ligand-dependent caspase activation ⁶⁶ Ligand-independent caspase activation via DCC ⁶⁶ Regulated Necrosis ⁶⁶ Regulation of necroptotic cell death ⁶⁶ RIPK1-mediated regulated necrosis ⁶⁶ TRAIL signaling ⁶⁶ TRAIL signaling pathway ¹	12.28	BTK CD14 LY96 TLR4
22	VEGF Pathway (Qiagen) ⁶⁴ Show member pathways CCKBR-Gastrin Stimulated Signaling ⁶⁴ Development VEGF-family signaling ²² Neurophilin interactions with VEGF and VEGFR ⁶⁶ VEGF Family Ligands and Receptor Interactions ⁶⁴	12.27	BTK CD14 IRAK4 LY96 MYD88 TIRAP
23	Tuberculosis ³⁷	12.26	CD14 IRAK4 MYD88 TIRAP TLR1 TLR2
24	Colorectal Cancer Metastasis ⁶⁴	12.25	TLR1 TLR2 TLR4 TLR5 TLR6
25	Phagosome ³⁷	12.2	CD14 CD36 TLR2 TLR4 TLR6
26	MAPK Pathway ⁷² Show member pathways Toll-like Receptor Pathway ⁷²	12.1	TLR1 TLR2 TLR4 TLR5 TLR6
27	Antigen processing-Cross presentation ⁶⁶ Show member pathways Cross-presentation of particulate exogenous antigens (phagosomes) ⁶⁶ Endosomal/Vacuolar pathway ⁶⁶ ER-Phagosome pathway ⁶⁶ Immune response Antigen presentation by MHC class I ²²	12.1	BTK CD14 CD36 LY96 MYD88 TIRAP
28	NF-kappa B signaling pathway ³⁷	11.95	BTK CD14 IRAK4 LY96 MYD88 TIRAP
29	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.93	CD14 LY96 MYD88 TLR4
30	Phagocytosis of Microbes ⁶⁴	11.91	TLR1 TLR2 TLR4 TLR5 TLR6
31	Salmonella infection (KEGG) ³⁷	11.89	CD14 MYD88 TLR4 TLR5
32	Pertussis ³⁷	11.87	CD14 IRAK4 LY96 MYD88 TIRAP TLR4
33	Amoebiasis ³⁷	11.84	CD14 TLR2 TLR4
34	NF-kB (NFkB) Pathway ⁶⁷	11.83	BTK CD14 IRAK4 LY96 MYD88 TLR4
35	Legionellosis ³⁷	11.69	CD14 MYD88 TLR2 TLR4 TLR5
36	AGE/RAGE pathway ¹	11.67	IRAK4 MYD88 TIRAP
37	Transcription_NF-kB signaling pathway ²²	11.67	CD14 LY96 MYD88 TLR4
38	Malaria ³⁷	11.62	CD36 MYD88 TLR2 TLR4
39	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	11.54	CD14 IRAK4 LY96 MYD88 TIRAP TLR1
40	A-beta Pathways: Uptake and Degradation ⁶⁵	11.4	CD14 CD36 LY96 TLR4
41	IL-10 Pathway ⁶⁴	11.24	CD14 TLR4
42	IL1 and megakaryocytes in obesity ¹	11.24	MYD88 TLR1 TLR2
43	IKK complex recruitment mediated by RIP1 ⁶⁶	11.22	CD14 LY96 TLR4
44	NTHi-Induced Signaling ⁶⁴	11.01	MYD88 TLR2
45	MIF Action Through Endocytic Pathway ⁶⁴	10.91	CD14 LY96 TLR4

Sources

GO Terms for Myd88 Deficiency

Cellular components related to Myd88 Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	9.93	BTK CD14 CD36 IRAK4 LY96 MYD88
2	endosome membrane	GO:0010008	9.65	CD14 IRAK4 LY96 MYD88 TLR4
3	receptor complex	GO:0043235	9.61	CD36 TLR4 TLR6
4	phagocytic vesicle membrane	GO:0030670	9.58	TLR1 TLR2 TLR6
5	intrinsic component of plasma membrane	GO:0031226	9.5	LY96 TLR2 TLR4
6	Toll-like receptor 1-Toll-like receptor 2 protein complex	GO:0035354	9.37	TLR1 TLR2
7	lipopolysaccharide receptor complex	GO:0046696	9.13	CD14 LY96 TLR4
8	membrane raft	GO:0045121	9.1	BTK CD14 CD36 TLR1 TLR2 TLR6

Biological processes related to Myd88 Deficiency according to GeneCards Suite gene sharing:

(show top 50) (show all 75)

#	Name	GO ID	Score	Top Affiliating Genes
1	defense response to Gram-positive bacterium	GO:0050830	9.98	CD36 MYD88 TIRAP TLR2
2	apoptotic signaling pathway	GO:0097190	9.97	BTK CD14 LY96 TLR4
3	positive regulation of NF-kappaB transcription factor activity	GO:0051092	9.97	BTK CD36 IRAK4 MYD88 TIRAP TLR2
4	I-kappaB kinase/NF-kappaB signaling	GO:0007249	9.94	BTK CD14 LY96 TLR4
5	positive regulation of interleukin-6 production	GO:0032755	9.94	CD36 MYD88 TLR2 TLR4
6	lipopolysaccharide-mediated signaling pathway	GO:0031663	9.93	CD14 LY96 MYD88 TLR2 TLR4
7	MyD88-dependent toll-like receptor signaling pathway	GO:0002755	9.93	BTK CD14 CD36 IRAK4 LY96 MYD88
8	positive regulation of nitric oxide biosynthetic process	GO:0045429	9.91	CD36 TLR4 TLR5 TLR6
9	cellular response to mechanical stimulus	GO:0071260	9.9	MYD88 TLR4 TLR5
10	positive regulation of JNK cascade	GO:0046330	9.9	MYD88 TIRAP TLR4
11	TRIF-dependent toll-like receptor signaling pathway	GO:0035666	9.9	CD14 LY96 TLR4 TLR6
12	positive regulation of interleukin-8 production	GO:0032757	9.89	TIRAP TLR2 TLR4 TLR5
13	positive regulation of NIK/NF-kappaB signaling	GO:1901224	9.88	CD14 TLR2 TLR4
14	positive regulation of interleukin-12 production	GO:0032735	9.88	CD36 TIRAP TLR2 TLR4
15	cellular response to amyloid-beta	GO:1904646	9.86	CD36 TLR4 TLR6
16	MyD88-independent toll-like receptor signaling pathway	GO:0002756	9.85	CD14 LY96 TLR4
17	cell activation	GO:0001775	9.85	TLR1 TLR2 TLR6
18	necroptotic process	GO:0070266	9.85	CD14 LY96 TLR4
19	regulation of cytokine secretion	GO:0050707	9.85	TLR1 TLR2 TLR4 TLR5 TLR6
20	positive regulation of cytokine production involved in inflammatory response	GO:1900017	9.84	MYD88 TLR4 TLR6
21	toll-like receptor 4 signaling pathway	GO:0034142	9.83	CD14 LY96 TLR4
22	negative regulation of growth of symbiont in host	GO:0044130	9.83	CD36 MYD88 TIRAP
23	positive regulation of interleukin-8 secretion	GO:2000484	9.83	CD14 TLR1 TLR2
24	cellular response to oxidised low-density lipoprotein particle stimulus	GO:0140052	9.83	CD36 MYD88 TLR4 TLR6
25	cellular response to lipoteichoic acid	GO:0071223	9.83	CD14 CD36 TIRAP TLR2 TLR4
26	positive regulation of reactive oxygen species biosynthetic process	GO:1903428	9.82	CD36 TLR4 TLR6
27	interleukin-1 beta secretion	GO:0050702	9.81	CD36 TLR4 TLR6
28	cellular response to diacyl bacterial lipopeptide	GO:0071726	9.81	CD14 CD36 TLR2 TLR6
29	positive regulation of interleukin-6 biosynthetic process	GO:0045410	9.8	TIRAP TLR1 TLR6
30	toll-like receptor TLR6:TLR2 signaling pathway	GO:0038124	9.8	CD14 CD36 TLR2 TLR6
31	positive regulation of tumor necrosis factor production	GO:0032760	9.8	CD14 CD36 LY96 MYD88 TIRAP TLR2
32	negative regulation of MyD88-independent toll-like receptor signaling pathway	GO:0034128	9.79	CD14 LY96 TLR4
33	positive regulation of NLRP3 inflammasome complex assembly	GO:1900227	9.78	CD36 TLR4 TLR6
34	response to bacterium	GO:0009617	9.75	CD14 TLR4
35	positive regulation of interferon-beta production	GO:0032728	9.75	TLR2 TLR4
36	positive regulation of interleukin-10 production	GO:0032733	9.75	TLR2 TLR4
37	toll-like receptor TLR1:TLR2 signaling pathway	GO:0038123	9.75	CD14 TLR1 TLR2
38	positive regulation of chemokine production	GO:0032722	9.74	TLR2 TLR4
39	activation of NF-kappaB-inducing kinase activity	GO:0007250	9.74	TIRAP TLR6
40	response to fatty acid	GO:0070542	9.74	CD36 TLR2
41	3-UTR-mediated mRNA stabilization	GO:0070935	9.74	MYD88 TIRAP
42	positive regulation of macrophage activation	GO:0043032	9.74	TLR4 TLR6
43	toll-like receptor 9 signaling pathway	GO:0034162	9.74	IRAK4 MYD88
44	positive regulation of nitric-oxide synthase biosynthetic process	GO:0051770	9.74	TLR2 TLR4
45	cellular response to triacyl bacterial lipopeptide	GO:0071727	9.74	CD14 TLR1 TLR2
46	microglial cell activation	GO:0001774	9.73	TLR2 TLR6
47	response to molecule of bacterial origin	GO:0002237	9.73	CD14 TLR2
48	I-kappaB phosphorylation	GO:0007252	9.73	TLR2 TLR4
49	positive regulation of tumor necrosis factor biosynthetic process	GO:0042535	9.73	TLR1 TLR4
50	T-helper 1 type immune response	GO:0042088	9.73	TLR4 TLR6

Molecular functions related to Myd88 Deficiency according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein heterodimerization activity	GO:0046982	9.83	TIRAP TLR1 TLR2 TLR4 TLR6
2	signaling receptor binding	GO:0005102	9.8	BTK MYD88 TLR4 TLR6
3	transmembrane signaling receptor activity	GO:0004888	9.78	TLR1 TLR4 TLR5 TLR6
4	signaling receptor activity	GO:0038023	9.71	TLR1 TLR2 TLR4 TLR6
5	lipopolysaccharide binding	GO:0001530	9.54	CD14 TLR2 TLR4
6	interleukin-1 receptor binding	GO:0005149	9.5	IRAK4 MYD88 TLR5
7	Toll-like receptor binding	GO:0035325	9.43	CD36 MYD88 TLR2
8	lipopolysaccharide receptor activity	GO:0001875	9.33	LY96 TLR2 TLR4
9	Toll-like receptor 2 binding	GO:0035663	9.13	TIRAP TLR1 TLR6
10	lipopeptide binding	GO:0071723	8.92	CD14 TLR1 TLR2 TLR6
11	protein binding	GO:0005515	10.27	ACAA1 BTK CD14 CD36 IRAK4 LY96

Sources

Sources for Myd88 Deficiency

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