MCID: MYD002
MIFTS: 46

Myd88 Deficiency

Categories: Rare diseases, Genetic diseases, Blood diseases

Aliases & Classifications for Myd88 Deficiency

MalaCards integrated aliases for Myd88 Deficiency:

Name: Myd88 Deficiency 54 50 25 56 71 29 69
Pyogenic Bacterial Infections Due to Myd88 Deficiency 50 25 56
Myd88d 71

Characteristics:

Orphanet epidemiological data:

56
pyogenic bacterial infections due to myd88 deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood;

Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 612260
Orphanet 56 ORPHA183713
UMLS via Orphanet 70 C2677092
ICD10 via Orphanet 34 D84.8
MedGen 40 C2677092

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 arteriosclerosis and oculo-cerebral dysplasia, and has symptoms including immunodeficiency, fever and recurrent bacterial skin infections. An important gene associated with Myd88 Deficiency is MYD88 (Myeloid Differentiation Primary Response 88), and among its related pathways/superpathways are Innate Immune System and HIV Life Cycle. Affiliated tissues include skin, myeloid and kidney, and related phenotypes are hematopoietic system and adipose tissue

NIH Rare Diseases : 50 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. last updated: 6/18/2015

UniProtKB/Swiss-Prot : 71 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.

Wikipedia : 72 2JS7, 2Z5V, 3MOP, 4DOM,... more...

Description from OMIM: 612260

Related Diseases for Myd88 Deficiency

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

(show all 47)
id Related Disease Score Top Affiliating Genes
1 arteriosclerosis 10.5 BTK MYD88
2 oculo-cerebral dysplasia 10.5 TLR1 TLR5
3 prothrombin thrombophilia 10.4 TLR2 TLR4
4 rickettsialpox 10.4 TLR2 TLR4
5 fibrosis of extraocular muscles, congenital, 1 10.4 IRAK4 TIRAP
6 antigen-peptide-transporter 2 deficiency 10.4 TLR2 TLR4
7 fanconi syndrome 10.4 TLR2 TLR4
8 mycobacterium kansasii 10.3 TLR1 TLR2
9 queensland tick typhus 10.3 MYD88 TLR2
10 aseptic meningitis 10.3 TLR2 TLR4
11 alkhurma hemorrhagic fever 10.3 TLR2 TLR4
12 pellagra 10.3 TLR4 TLR6
13 hereditary choroidal atrophy 10.2 MYD88 TLR2 TLR4
14 neonatal meningitis 10.2 TLR2 TLR4
15 hypertensive heart disease 10.2 TLR2 TLR4 TLR5
16 gastroduodenal crohn's disease 10.2 TLR2 TLR4 TLR5
17 common cold 10.1 TLR4 TLR5 TLR6
18 adenoid squamous cell carcinoma 10.1 TLR2 TLR4 TLR5
19 thymus clear cell carcinoma 10.1 TLR2 TLR4
20 testicular infarct 10.1 TLR2 TLR4
21 bartonellosis 10.1 TLR1 TLR2 TLR4
22 neutrophil-specific granule deficiency 10.0 TLR1 TLR2 TLR6
23 mixed malaria 10.0 IRAK4 MYD88
24 megaloblastic anemia 10.0 TLR2 TLR4
25 lateral cystocele 10.0 TIRAP TLR1 TLR4
26 epidermolysis bullosa dystrophica, ad 10.0 TIRAP TLR2
27 asphyxiating thoracic dystrophy 10.0 TLR2 TLR4 TLR5
28 uterine adnexa cancer 10.0 TLR1 TLR2 TLR6
29 mycobacterium malmoense 10.0 CD14 TLR2
30 mycobacterium xenopi 10.0 CD14 TLR2
31 nasopharyngitis 9.9 MYD88 TLR2 TLR4 TLR5
32 trichosporonosis 9.7 TLR1 TLR2 TLR4 TLR6
33 tinea barbae 9.7 TLR1 TLR2 TLR4 TLR6
34 gastric ulcer 9.7 TLR1 TLR2 TLR4 TLR6
35 aneurysm 9.6
36 chlamydia 9.6
37 lymphadenitis 9.6
38 aortic aneurysm 9.6
39 syphilis 9.6
40 abdominal aortic aneurysm 9.6
41 amyloidosis 9.6
42 melioidosis 9.2 LY96 TLR1 TLR2 TLR4 TLR5
43 compensatory emphysema 9.2 TIRAP TLR1 TLR2 TLR4 TLR6
44 malaria 9.1 CD36 MYD88 TIRAP TLR2 TLR4
45 schneiderian carcinoma 8.9 MYD88 TIRAP TLR1 TLR2 TLR4 TLR6
46 invasive pneumococcal disease, recurrent isolated, 1 6.0 BTK CD14 CD36 IRAK4 LY96 MYD88
47 anal atresia, hypospadias, and penoscrotal inversion 6.0 BTK CD14 CD36 IRAK4 LY96 MYD88

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



Diseases related to Myd88 Deficiency

Symptoms & Phenotypes for Myd88 Deficiency

Clinical features from OMIM:

612260

Human phenotypes related to Myd88 Deficiency:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0002721
2 fever 56 32 occasional (7.5%) Occasional (29-5%) HP:0001945
3 recurrent bacterial skin infections 56 32 frequent (33%) Frequent (79-30%) HP:0005406

MGI Mouse Phenotypes related to Myd88 Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.93 BTK CD14 CD36 IRAK4 LY96 MYD88
2 adipose tissue MP:0005375 9.8 CD14 CD36 MYD88 TLR2 TLR4 TLR5
3 digestive/alimentary MP:0005381 9.73 BTK CD36 MYD88 TLR2 TLR4 TLR5
4 homeostasis/metabolism MP:0005376 9.61 BTK CD14 CD36 IRAK4 MYD88 TIRAP
5 immune system MP:0005387 9.4 TLR4 TLR5 TLR6 BTK CD14 CD36

Drugs & Therapeutics for Myd88 Deficiency

Search Clinical Trials , NIH Clinical Center for Myd88 Deficiency

Genetic Tests for Myd88 Deficiency

Genetic tests related to Myd88 Deficiency:

id Genetic test Affiliating Genes
1 Myd88 Deficiency 29

Anatomical Context for Myd88 Deficiency

MalaCards organs/tissues related to Myd88 Deficiency:

39
Skin, Myeloid, Kidney, Monocytes, T Cells, Salivary Gland, Nk Cells

Publications for Myd88 Deficiency

Articles related to Myd88 Deficiency:

(show all 19)
id Title Authors Year
1
Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis. ( 26632527 )
2016
2
Natural Killer Cell Sensing of Infected Cells Compensates for MyD88 Deficiency but Not IFN-I Activity in Resistance to Mouse Cytomegalovirus. ( 25954804 )
2015
3
Recipient Myd88 Deficiency Promotes Spontaneous Resolution of Kidney Allograft Rejection. ( 25788530 )
2015
4
IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens. ( 25320238 )
2014
5
MyD88 deficiency alters expression of antimicrobial factors in mouse salivary glands. ( 25415419 )
2014
6
The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands. ( 23857504 )
2013
7
MyD88 deficiency markedly worsens tissue inflammation and bacterial clearance in mice infected with Treponema pallidum, the agent of syphilis. ( 23940747 )
2013
8
MyD88 deficiency results in both cognitive and motor impairments in mice. ( 22401992 )
2012
9
The effects of MyD88 deficiency on exploratory activity, anxiety, motor coordination, and spatial learning in C57BL/6 and APPswe/PS1dE9 mice. ( 22051943 )
2012
10
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 )
2011
11
MyD88 deficiency ameliorates I^-amyloidosis in an animal model of Alzheimer's disease. ( 21763676 )
2011
12
MyD88 deficiency attenuates angiotensin II-induced abdominal aortic aneurysm formation independent of signaling through Toll-like receptors 2 and 4. ( 21960563 )
2011
13
Myd88 deficiency influences murine tracheal epithelial metaplasia and submucosal gland abundance. ( 21557220 )
2011
14
Myeloid differentiation factor 88 (MyD88)-deficiency increases risk of diabetes in mice. ( 20824098 )
2010
15
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. ( 21057262 )
2010
16
Myeloid differentiation primary response gene 88 (MyD88) deficiency in a large kindred. ( 20538326 )
2010
17
Pyogenic bacterial infections in humans with MyD88 deficiency. ( 18669862 )
2008
18
MyD88 deficiency results in tissue-specific changes in cytokine induction and inflammation in interleukin-18-independent mice infected with Borrelia burgdorferi. ( 16495516 )
2006
19
MyD88 deficiency enhances acquisition and transmission of Borrelia burgdorferi by Ixodes scapularis ticks. ( 16552045 )
2006

Variations for Myd88 Deficiency

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 MYD88 MYD88, 3-BP DEL, 160GAG deletion Pathogenic
2 MYD88 NM_001172567.1(MYD88): c.625C> T (p.Arg209Cys) single nucleotide variant Pathogenic rs137853064 GRCh37 Chromosome 3, 38182001: 38182001
3 MYD88 NM_001172567.1(MYD88): c.317T> C (p.Leu106Pro) single nucleotide variant Pathogenic rs137853065 GRCh37 Chromosome 3, 38180469: 38180469

Expression for Myd88 Deficiency

Search GEO for disease gene expression data for Myd88 Deficiency.

Pathways for Myd88 Deficiency

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

(show all 44)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 BTK CD14 CD36 IRAK4 LY96 MYD88
2
Show member pathways
13.63 BTK CD14 CD36 IRAK4 LY96 MYD88
3
Show member pathways
13.49 BTK CD14 CD36 IRAK4 LY96 MYD88
4
Show member pathways
13.4 BTK IRAK4 MYD88 TIRAP TLR1 TLR2
5
Show member pathways
13.4 BTK CD14 CD36 LY96 MYD88 TIRAP
6
Show member pathways
13.19 BTK CD14 IRAK4 MYD88 TLR1 TLR2
7
Show member pathways
12.94 BTK CD14 CD36 IRAK4 LY96 MYD88
8
Show member pathways
12.77 BTK CD14 IRAK4 LY96 MYD88 TIRAP
9
Show member pathways
12.72 IRAK4 MYD88 TLR1 TLR2 TLR4 TLR5
10
Show member pathways
12.68 IRAK4 MYD88 TLR2 TLR4
11 12.6 BTK IRAK4 MYD88 TLR1 TLR2 TLR6
12
Show member pathways
12.5 CD14 IRAK4 LY96 MYD88 TIRAP TLR4
13
Show member pathways
12.47 CD14 LY96 TLR4 TLR5
14
Show member pathways
12.43 BTK CD14 IRAK4 LY96 MYD88 TIRAP
15
Show member pathways
12.32 IRAK4 LY96 MYD88 TLR2 TLR4
16
Show member pathways
12.31 CD14 IRAK4 LY96 MYD88 TIRAP TLR4
17
Show member pathways
12.28 BTK CD14 LY96 TLR4
18 12.26 TLR1 TLR2 TLR4 TLR5 TLR6
19 12.22 CD14 IRAK4 MYD88 TIRAP TLR1 TLR2
20 12.21 CD14 CD36 TLR2 TLR4 TLR6
21 12.15 TLR1 TLR2 TLR4 TLR5 TLR6
22
Show member pathways
12.11 TLR1 TLR2 TLR4 TLR5 TLR6
23
Show member pathways
12.1 BTK CD14 CD36 LY96 MYD88 TIRAP
24
Show member pathways
12.02 TLR1 TLR2 TLR4 TLR5 TLR6
25
Show member pathways
11.99 TLR1 TLR2 TLR4 TLR5 TLR6
26
Show member pathways
11.94 CD14 LY96 MYD88 TLR4
27 11.93 BTK CD14 IRAK4 LY96 MYD88 TIRAP
28 11.9 CD14 MYD88 TLR4 TLR5
29 11.89 TLR1 TLR2 TLR4 TLR5 TLR6
30 11.85 CD14 IRAK4 LY96 MYD88 TIRAP TLR4
31 11.84 CD14 TLR2 TLR4
32 11.8 CD36 TLR2 TLR4 TLR5
33 11.79 BTK CD14 IRAK4 LY96 MYD88 TLR4
34 11.68 CD14 LY96 MYD88 TLR4
35 11.67 IRAK4 MYD88 TIRAP
36 11.65 CD14 MYD88 TLR2 TLR4 TLR5
37 11.63 CD36 MYD88 TLR2 TLR4
38
Show member pathways
11.54 CD14 IRAK4 LY96 MYD88 TIRAP TLR1
39 11.44 CD14 CD36 LY96 TLR4
40 11.25 MYD88 TLR1 TLR2
41 11.24 CD14 TLR4
42 11.23 CD14 LY96 TLR4
43 11.01 MYD88 TLR2
44 10.91 CD14 LY96 TLR4

GO Terms for Myd88 Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 BTK CD14 CD36 IRAK4 LY96 MYD88
2 cell surface GO:0009986 9.73 CD14 CD36 TLR2 TLR4
3 endosome membrane GO:0010008 9.65 CD14 IRAK4 LY96 MYD88 TLR4
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 69)
id Name GO ID Score Top Affiliating Genes
1 defense response to Gram-positive bacterium GO:0050830 9.97 CD36 MYD88 TIRAP TLR2
2 apoptotic signaling pathway GO:0097190 9.95 BTK CD14 LY96 TLR4
3 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.94 BTK CD14 LY96 TLR4
4 positive regulation of interleukin-6 production GO:0032755 9.93 CD36 MYD88 TLR2 TLR4
5 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.93 BTK CD14 CD36 IRAK4 LY96 MYD88
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.92 CD36 TIRAP TLR4
7 lipopolysaccharide-mediated signaling pathway GO:0031663 9.91 CD14 LY96 MYD88 TLR2 TLR4
8 cellular response to mechanical stimulus GO:0071260 9.89 MYD88 TLR4 TLR5
9 positive regulation of interleukin-8 production GO:0032757 9.89 TIRAP TLR2 TLR4 TLR5
10 positive regulation of JNK cascade GO:0046330 9.88 MYD88 TIRAP TLR4
11 positive regulation of interleukin-12 production GO:0032735 9.88 CD36 TIRAP TLR2 TLR4
12 regulation of cytokine secretion GO:0050707 9.85 TLR1 TLR2 TLR4 TLR5 TLR6
13 necroptotic process GO:0070266 9.84 CD14 LY96 TLR4
14 negative regulation of growth of symbiont in host GO:0044130 9.84 CD36 MYD88 TIRAP
15 toll-like receptor 4 signaling pathway GO:0034142 9.84 CD14 LY96 TIRAP TLR4
16 cell activation GO:0001775 9.83 TLR1 TLR2 TLR6
17 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.82 CD14 LY96 TLR4
18 interleukin-1 beta secretion GO:0050702 9.81 CD36 TLR4 TLR6
19 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.81 TIRAP TLR1 TLR6
20 toll-like receptor TLR6:TLR2 signaling pathway GO:0038124 9.8 CD14 CD36 TLR2 TLR6
21 cellular response to lipoteichoic acid GO:0071223 9.8 CD14 CD36 TIRAP TLR2 TLR4
22 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.8 BTK IRAK4 MYD88 TIRAP TLR2 TLR4
23 positive regulation of tumor necrosis factor production GO:0032760 9.8 CD14 CD36 LY96 MYD88 TIRAP TLR2
24 negative regulation of MyD88-independent toll-like receptor signaling pathway GO:0034128 9.79 CD14 LY96 TLR4
25 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.78 CD36 TLR4 TLR6
26 cellular response to diacyl bacterial lipopeptide GO:0071726 9.78 CD14 CD36 TLR2 TLR6
27 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.77 CD14 LY96 TLR4
28 cellular response to bacterial lipopeptide GO:0071221 9.75 CD36 TIRAP TLR2
29 response to bacterium GO:0009617 9.74 CD14 TLR4
30 positive regulation of interferon-beta production GO:0032728 9.74 TLR2 TLR4
31 positive regulation of interleukin-10 production GO:0032733 9.74 TLR2 TLR4
32 positive regulation of NF-kappaB import into nucleus GO:0042346 9.74 TLR2 TLR4
33 cellular response to triacyl bacterial lipopeptide GO:0071727 9.74 CD14 TLR1 TLR2
34 response to fatty acid GO:0070542 9.73 CD36 TLR2
35 3-UTR-mediated mRNA stabilization GO:0070935 9.73 MYD88 TIRAP
36 activation of NF-kappaB-inducing kinase activity GO:0007250 9.73 TIRAP TLR6
37 positive regulation of chemokine production GO:0032722 9.73 TLR2 TLR4
38 toll-like receptor 9 signaling pathway GO:0034162 9.73 IRAK4 MYD88
39 microglial cell activation GO:0001774 9.73 TLR2 TLR6
40 toll-like receptor TLR1:TLR2 signaling pathway GO:0038123 9.73 CD14 TLR1 TLR2
41 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.72 TLR2 TLR4
42 response to molecule of bacterial origin GO:0002237 9.72 CD14 TLR2
43 I-kappaB phosphorylation GO:0007252 9.72 TLR2 TLR4
44 T-helper 1 type immune response GO:0042088 9.72 TLR4 TLR6
45 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.72 TLR1 TLR4
46 macrophage activation GO:0042116 9.71 TLR1 TLR4
47 positive regulation of lymphocyte proliferation GO:0050671 9.71 MYD88 TLR4
48 positive regulation of macrophage cytokine production GO:0060907 9.71 CD36 TLR4
49 detection of lipopolysaccharide GO:0032497 9.7 LY96 TLR4
50 innate immune response GO:0045087 9.7 BTK CD14 IRAK4 LY96 MYD88 TIRAP

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

id Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.76 TLR1 TLR4 TLR5 TLR6
2 receptor activity GO:0004872 9.73 TLR1 TLR2 TLR4 TLR6
3 protein heterodimerization activity GO:0046982 9.58 TIRAP TLR1 TLR2
4 lipopolysaccharide binding GO:0001530 9.5 CD14 TLR2 TLR4
5 receptor binding GO:0005102 9.48 BTK MYD88
6 interleukin-1 receptor binding GO:0005149 9.43 IRAK4 MYD88 TLR5
7 lipopolysaccharide receptor activity GO:0001875 9.33 LY96 TLR2 TLR4
8 Toll-like receptor 2 binding GO:0035663 9.13 TIRAP TLR1 TLR6
9 Toll-like receptor binding GO:0035325 9.07 TLR2
10 lipopeptide binding GO:0071723 8.92 CD14 TLR1 TLR2 TLR6

Sources for Myd88 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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