KEGG   DISEASE: Tuberculosis
Entry
H00342                      Disease                                
Name
Tuberculosis
  Subgroup
Multi-drug-resistant tuberculosis [DS:H01472]
Description
Tuberculosis is an infectious disease caused by strains of mycobacteria, mainly Mycobacterium tuberculosis, resulting in an estimated two million deaths each year worldwide, more than from any other single bacterial pathogen. Inhalation is the predominant pathway of infection, making pulmonary tuberculosis the most common form of tuberculosis. Tuberculosis may arise either from a recent infection with M. tuberculosis, or from the reactivation of dormant bacilli, years or decades after initial infection. Extrapulmonary tuberculosis mainly results from reactivation of a tuberculous focus after hematogenous dissemination or lymphogenous spread from a primary, usually pulmonary focus.
Category
Bacterial infectious disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 01 Certain infectious or parasitic diseases
  Mycobacterial diseases
   Tuberculosis
    1B10  Tuberculosis of the respiratory system
     H00342  Tuberculosis
    1B11  Tuberculosis of the nervous system
     H00342  Tuberculosis
    1B12  Tuberculosis of other systems and organs
     H00342  Tuberculosis
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06546  IgSF CAM signaling
   H00342  Tuberculosis
 Immune system
  nt06517  TLR signaling
   H00342  Tuberculosis
Genome-based classification of infectious diseases [BR:br08401]
 Bacterial infections
  Infections caused by actinobacteria
   H00342  Tuberculosis
Infectious diseases by law in Japan [br08406.html]
 H00342
Specified pathogens by law in Japan [br08416.html]
 H00342
Disease
pathway
hsa05152  Tuberculosis
Pathway
hsa04620  Toll-like receptor signaling pathway
hsa04517  IGSF CAM signaling
Network
nt06517 TLR signaling
nt06546 IgSF CAM signaling
Gene
IFNG (protection) [HSA:3458] [KO:K04687]
IFNGR1 (susceptibility/protection) [HSA:3459] [KO:K05132]
IFNGR2 [HSA:3460] [KO:K05133]
HLA-DRB1 (susceptibility) [HSA:3123] [KO:K06752]
HLA-DQB1 (susceptibility) [HSA:3119] [KO:K06752]
SLC11A1 (susceptibility) [HSA:6556] [KO:K12347]
VDR (susceptibility) [HSA:7421] [KO:K08539]
MBL2 (protection) [HSA:4153] [KO:K03991]
CCL2 (susceptibility) [HSA:6347] [KO:K14624]
CD209 (susceptibility) [HSA:30835] [KO:K06563]
CISH (susceptibility) [HSA:1154] [KO:K04701]
IRGM (protection) [HSA:345611] [KO:K14139]
SP110 (susceptibility) [HSA:3431] [KO:K24503]
TIRAP (protection) [HSA:114609] [KO:K05403]
TLR2 (susceptibility) [HSA:7097] [KO:K10159]
Pathogen
Mycobacterium tuberculosis [GN:mtu mtc mtf mtb mtk mtg mti mte mtl mto mtd mtj mtuc mtue mtuh maf]
Mycobacterium canettii [GN:mce mcq mcv mcx mcz]
Drug
Triamcinolone acetonide [DR:D00983]
Dexamethasone [DR:D00292]
Dexamethasone sodium phosphate [DR:D00975]
Hydrocortisone [DR:D00088]
Hydrocortisone sodium succinate [DR:D00978]
Prednisolone [DR:D00472]
Prednisolone sodium phosphate [DR:D00981]
Streptomycin sulfate [DR:D01350]
Prednisone [DR:D00473]
Methylprednisolone [DR:D00407]
Methylprednisolone acetate [DR:D00979]
Cortisone acetate [DR:D00973]
Aminosalicylic acid [DR:D00162]
Cycloserine [DR:D00877]
Rifampin [DR:D00211]
Rifapentine [DR:D00879]
Capreomycin sulfate [DR:D00135]
Isoniazid [DR:D00346]
Rifampin and isoniazid [DR:D11578]
Ethionamide [DR:D00591]
Pyrazinamide [DR:D00144]
Ethambutol hydrochloride [DR:D00878]
Rifampin, isoniazid and pyrazinamide [DR:D10210]
BCG vaccine [DR:D03063]
Other DBs
ICD-11: 1B10 1B11 1B12
MeSH: D014376
MedlinePlus: 000077
OMIM: 607948
Reference
  Authors
Moller M, Hoal EG
  Title
Current findings, challenges and novel approaches in human genetic susceptibility to tuberculosis.
  Journal
Tuberculosis (Edinb) 90:71-83 (2010)
DOI:10.1016/j.tube.2010.02.002
Reference
  Authors
De Backer AI, Mortele KJ, De Keulenaer BL, Parizel PM
  Title
Tuberculosis: epidemiology, manifestations, and the value of medical imaging in diagnosis.
  Journal
JBR-BTR 89:243-50 (2006)
Reference
  Authors
Lawn SD, Zumla AI
  Title
Tuberculosis.
  Journal
Lancet 378:57-72 (2011)
DOI:10.1016/S0140-6736(10)62173-3
Reference
PMID:16690980 (IFNG IFNGR1 IFNGR2)
  Authors
Cooke GS, Campbell SJ, Sillah J, Gustafson P, Bah B, Sirugo G, Bennett S, McAdam KP, Sow O, Lienhardt C, Hill AV
  Title
Polymorphism within the interferon-gamma/receptor complex is associated with pulmonary tuberculosis.
  Journal
Am J Respir Crit Care Med 174:339-43 (2006)
DOI:10.1164/rccm.200601-088OC
Reference
PMID:24024195 (SLC11A1 VDR HLA-DRB1 HLA-DQB1)
  Authors
Wu F, Zhang W, Zhang L, Wu J, Li C, Meng X, Wang X, He P, Zhang J
  Title
NRAMP1, VDR, HLA-DRB1, and HLA-DQB1 gene polymorphisms in susceptibility to tuberculosis among the Chinese Kazakh population: a case-control study.
  Journal
Biomed Res Int 2013:484535 (2013)
DOI:10.1155/2013/484535
Reference
PMID:16103355 (SLC11A1)
  Authors
Malik S, Abel L, Tooker H, Poon A, Simkin L, Girard M, Adams GJ, Starke JR, Smith KC, Graviss EA, Musser JM, Schurr E
  Title
Alleles of the NRAMP1 gene are risk factors for pediatric tuberculosis disease.
  Journal
Proc Natl Acad Sci U S A 102:12183-8 (2005)
DOI:10.1073/pnas.0503368102
Reference
PMID:32847384 (VDR)
  Authors
Maruthai K, Sankar S, Subramanian M
  Title
Methylation Status of VDR Gene and its Association with Vitamin D Status and VDR Gene Expression in Pediatric Tuberculosis Disease.
  Journal
Immunol Invest 51:73-87 (2022)
DOI:10.1080/08820139.2020.1810702
Reference
PMID:33270011 (MBL2)
  Authors
Taheri M, Karimloo R, Sarani H, Molashahi B, Naderi M, Bahari G, Hashemi M
  Title
Association Study of MBL2 Gene Polymorphisms and Risk of Tuberculosis in Southeast of Iran.
  Journal
Prague Med Rep 121:236-243 (2020)
DOI:10.14712/23362936.2020.20
Reference
PMID:20041183 (CCL2)
  Authors
Hasan Z, Cliff JM, Dockrell HM, Jamil B, Irfan M, Ashraf M, Hussain R
  Title
CCL2 responses to Mycobacterium tuberculosis are associated with disease severity in tuberculosis.
  Journal
PLoS One 4:e8459 (2009)
DOI:10.1371/journal.pone.0008459
Reference
PMID:16379498 (CD209)
  Authors
Barreiro LB, Neyrolles O, Babb CL, Tailleux L, Quach H, McElreavey K, Helden PD, Hoal EG, Gicquel B, Quintana-Murci L
  Title
Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosis.
  Journal
PLoS Med 3:e20 (2006)
DOI:10.1371/journal.pmed.0030020
Reference
PMID:28954234 (CISH)
  Authors
Queval CJ, Song OR, Carralot JP, Saliou JM, Bongiovanni A, Deloison G, Deboosere N, Jouny S, Iantomasi R, Delorme V, Debrie AS, Park SJ, Gouveia JC, Tomavo S, Brosch R, Yoshimura A, Yeramian E, Brodin P
  Title
Mycobacterium tuberculosis Controls Phagosomal Acidification by Targeting CISH-Mediated Signaling.
  Journal
Cell Rep 20:3188-3198 (2017)
DOI:10.1016/j.celrep.2017.08.101
Reference
PMID:19750224 (IRGM)
  Authors
Intemann CD, Thye T, Niemann S, Browne EN, Amanua Chinbuah M, Enimil A, Gyapong J, Osei I, Owusu-Dabo E, Helm S, Rusch-Gerdes S, Horstmann RD, Meyer CG
  Title
Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains.
  Journal
PLoS Pathog 5:e1000577 (2009)
DOI:10.1371/journal.ppat.1000577
Reference
PMID:17149599 (SP110)
  Authors
Szeszko JS, Healy B, Stevens H, Balabanova Y, Drobniewski F, Todd JA, Nejentsev S
  Title
Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis.
  Journal
Hum Genet 121:155-60 (2007)
DOI:10.1007/s00439-006-0293-z
Reference
PMID:18305471 (TIRAP)
  Authors
Nejentsev S, Thye T, Szeszko JS, Stevens H, Balabanova Y, Chinbuah AM, Hibberd M, van de Vosse E, Alisjahbana B, van Crevel R, Ottenhoff TH, Png E, Drobniewski F, Todd JA, Seielstad M, Horstmann RD
  Title
Analysis of association of the TIRAP (MAL) S180L variant and tuberculosis in three populations.
  Journal
Nat Genet 40:261-2; author reply 262-3 (2008)
DOI:10.1038/ng0308-261
Reference
PMID:14979495 (TLR2)
  Authors
Ogus AC, Yoldas B, Ozdemir T, Uguz A, Olcen S, Keser I, Coskun M, Cilli A, Yegin O
  Title
The Arg753GLn polymorphism of the human toll-like receptor 2 gene in tuberculosis disease.
  Journal
Eur Respir J 23:219-23 (2004)
DOI:10.1183/09031936.03.00061703
LinkDB

» Japanese version

KEGG   DISEASE: HIV infection
Entry
H01563                      Disease                                
Name
HIV infection
Description
The human immunodeficiency virus (HIV) is a lentivirus (a subgroup of retrovirus) that causes HIV infection and over time acquired immunodeficiency syndrome (AIDS). Two types of HIV has been characterized. HIV-1 is the most virulent and pathogenic strain. Worldwide, the predominant virus is HIV-1. The relatively uncommon HIV-2 type is concentrated in West Africa and is rarely found elsewhere. Infection with HIV occurs by transfer of blood, semen, and breast milk. The identification of HIV as the causative agent of AIDS catalyzed efforts to develop antiviral agents. The licenced anti-HIV drugs fall into some categories: reverse transcriptase inhibitors (NRTIs and NNRTIs), integrase inhibitors, protease inhibitors (PIs), fusion inhibitors (FIs), and coreceptor inhibitors. The advent of highly active antiretroviral therapy (HAART) as the standard of care for the treatment of HIV infection was seminal in reducing the morbidity and mortality associated with HIV infection and progression to AIDS. Combination antiretroviral therapy dramatically suppresses HIV replication and reduces the plasma HIV-1 viral load, resulting in significant reconstitution of the immune system. Genetic susceptibility to HIV infection and AIDS progression is variable among individuals and populations, and in part genetically determined. Genetic variants of genes encoding HIV co-receptors and their chemokine ligands have been described, and some of these variants were associated with resistance to HIV infection and/or disease progression.
Category
Viral infectious disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 01 Certain infectious or parasitic diseases
  Human immunodeficiency virus disease
   1C62  Human immunodeficiency virus disease without mention of tuberculosis or malaria
    H01563  HIV infection
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06516  TNF signaling
   H01563  HIV infection
 Cellular process
  nt06524  Apoptosis
   H01563  HIV infection
  nt06546  IgSF CAM signaling
   H01563  HIV infection
 Immune system
  nt06517  TLR signaling
   H01563  HIV infection
  nt06520  CGAS-STING signaling
   H01563  HIV infection
  nt06533  Chemokine signaling
   H01563  HIV infection
Genome-based classification of infectious diseases [BR:br08401]
 Viral infections
  Infections caused by ssRNA-RT viruses
   H01563  HIV infection
Disease
pathway
hsa05170  Human immunodeficiency virus 1 infection
Pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04061  Viral protein interaction with cytokine and cytokine receptor
hsa04062  Chemokine signaling pathway
hsa04620  Toll-like receptor signaling pathway
hsa04517  IGSF CAM signaling
Network
nt06161 Human immunodeficiency virus 1 (HIV-1)
nt06516 TNF signaling
nt06517 TLR signaling
nt06520 CGAS-STING signaling
nt06524 Apoptosis
nt06533 Chemokine signaling
nt06546 IgSF CAM signaling
Gene
CCR5 (resistance) [HSA:1234] [KO:K04180]
CCR2 (resistance) [HSA:729230] [KO:K04177]
TLR3 (resistance) [HSA:7098] [KO:K05401]
CXCL12 (resistance) [HSA:6387] [KO:K10031]
CCL2 (resistance) [HSA:6347] [KO:K14624]
CCL3 (resistance) [HSA:6348] [KO:K05408]
CCL11 (resistance) [HSA:6356] [KO:K16597]
IL10 (susceptibility) [HSA:3586] [KO:K05443]
CD209 (susceptibility) [HSA:30835] [KO:K06563]
HLA-C (susceptibility) [HSA:3107] [KO:K06751]
CCL3L1 (susceptibility) [HSA:6349] [KO:K05408]
IFNG (rapid progression) [HSA:3458] [KO:K04687]
CX3CR1 (rapid progression) [HSA:1524] [KO:K04192]
CXCR1 (slow progression) [HSA:3577] [KO:K04175]
IL4R (slow progression) [HSA:3566] [KO:K05071]
CCL5 (delayed/rapid progression) [HSA:6352] [KO:K12499]
KIR3DL1 (delayed/rapid progression) [HSA:3811] [KO:K07980]
Pathogen
Human immunodeficiency virus 1 (HIV-1) [GN:T40001]
Human immunodeficiency virus 2 (HIV-2) [GN:T40002]
Drug
Somatropin [DR:D02691]
Saquinavir mesylate [DR:D01160]
Indinavir sulfate [DR:D00897]
Ritonavir [DR:D00427]
Nelfinavir mesylate [DR:D00899]
Fosamprenavir calcium [DR:D03835]
Atazanavir sulfate [DR:D01276]
Tipranavir [DR:D08605]
Darunavir ethanolate [DR:D06478]
Darunavir propylene glycolate [DR:D12752]
Zidovudine [DR:D00413]
Didanosine [DR:D00296]
Stavudine [DR:D00445]
Lamivudine [DR:D00353]
Abacavir sulfate [DR:D00891]
Tenofovir disoproxil fumarate [DR:D01982]
Emtricitabine [DR:D01199]
Nevirapine [DR:D00435]
Delavirdine mesylate [DR:D00895]
Efavirenz [DR:D00896]
Etravirine [DR:D04112]
Rilpivirine hydrochloride [DR:D09958]
Doravirine [DR:D10624]
Raltegravir potassium [DR:D07133]
Elvitegravir [DR:D06677]
Dolutegravir sodium [DR:D10113]
Cabotegravir sodium [DR:D10549]
Zidovudine and lamivudine [DR:D07507]
Abacavir sulfate and lamivudine [DR:D08775]
Emtricitabine and tenofovir disoproxil [DR:D02297]
Abacavir, lamivudine and zidovudine [DR:D10838]
Lamivudine, nevirapine and zidovudine [DR:D11521]
Efavirenz, emtricitabine and tenofovir disoproxil [DR:D10851]
Rilpivirine hydrochloride, tenofovir disoproxil fumarate and emtricitabine [DR:D10571]
Elvitegravir, cobicistat, emtricitabine and tenofovir disoproxil [DR:D10756]
Lopinavir and ritonavir [DR:D02498]
Efavirenz, lamivudine and tenofovir disoproxil fumarate [DR:D11392]
Lamivudine and tenofovir disoproxil [DR:D11395]
Dolutegravir, abacavir and lamivudine [DR:D10600]
Darunavir and cobicistat [DR:D10832]
Atazanavir and cobicistat [DR:D10753]
Emtricitabine and tenofovir alafenamide [DR:D10835]
Elvitegravir, cobicistat, emtricitabine and tenofovir alafenamide [DR:D10755]
Emtricitabine, rilpivirine and tenofovir alafenamide [DR:D10836]
Bictegravir, emtricitabine and tenofovir alafenamide [DR:D11039]
Dolutegravir sodium and rilpivirine hydrochloride [DR:D11282]
Darunavir, cobicistat, emtricitabine and tenofovir alafenamide [DR:D11382]
Doravirine, lamivudine and tenofovir disoproxil [DR:D11396]
Dolutegravir and lamivudine [DR:D11522]
Enfuvirtide [DR:D02499]
Maraviroc [DR:D06670] (CCR5-tropic)
Ibalizumab [DR:D09575]
Fostemsavir tromethamine [DR:D10708]
Lenacapavir sodium [DR:D12162]
Cobicistat [DR:D09881]
Cabotegravir and rilpivirine [DR:D11966]
Comment
See also H00406 Acquired immunodeficiency syndrome (AIDS).
Other DBs
ICD-11: 1C62
MeSH: D015658
OMIM: 609423
Reference
  Authors
Yousaf MZ, Zia S, Babar ME, Ashfaq UA
  Title
The epidemic of HIV/AIDS in developing countries; the current scenario in Pakistan.
  Journal
Virol J 8:401 (2011)
DOI:10.1186/1743-422X-8-401
Reference
PMID:20149939 (CCR5)
  Authors
An P, Winkler CA
  Title
Host genes associated with HIV/AIDS: advances in gene discovery.
  Journal
Trends Genet 26:119-31 (2010)
DOI:10.1016/j.tig.2010.01.002
Reference
PMID:16978874 (CCR5, CCR2, CX3CR1, CCL3, CCL4, CCL5, CXCL12)
  Authors
Arenzana-Seisdedos F, Parmentier M
  Title
Genetics of resistance to HIV infection: Role of co-receptors and co-receptor ligands.
  Journal
Semin Immunol 18:387-403 (2006)
DOI:10.1016/j.smim.2006.07.007
Reference
PMID:15167933 (CCR5, CCR2, CCL5, CXCL12, CXCR6, CCL2, CCL7. CCL11, IL10)
  Authors
O'Brien SJ, Nelson GW
  Title
Human genes that limit AIDS.
  Journal
Nat Genet 36:565-74 (2004)
DOI:10.1038/ng1369
Reference
PMID:22174453 (TLR3)
  Authors
Sironi M, Biasin M, Cagliani R, Forni D, De Luca M, Saulle I, Lo Caputo S, Mazzotta F, Macias J, Pineda JA, Caruz A, Clerici M
  Title
A common polymorphism in TLR3 confers natural resistance to HIV-1 infection.
  Journal
J Immunol 188:818-23 (2012)
DOI:10.4049/jimmunol.1102179
Reference
PMID:11121048 (IL10)
  Authors
Shin HD, Winkler C, Stephens JC, Bream J, Young H, Goedert JJ, O'Brien TR, Vlahov D, Buchbinder S, Giorgi J, Rinaldo C, Donfield S, Willoughby A, O'Brien SJ, Smith MW
  Title
Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10.
  Journal
Proc Natl Acad Sci U S A 97:14467-72 (2000)
DOI:10.1073/pnas.97.26.14467
Reference
PMID:15564514 (CD209)
  Authors
Martin MP, Lederman MM, Hutcheson HB, Goedert JJ, Nelson GW, van Kooyk Y, Detels R, Buchbinder S, Hoots K, Vlahov D, O'Brien SJ, Carrington M
  Title
Association of DC-SIGN promoter polymorphism with increased risk for parenteral, but not mucosal, acquisition of human immunodeficiency virus type 1 infection.
  Journal
J Virol 78:14053-6 (2004)
DOI:10.1128/JVI.78.24.14053-14056.2004
Reference
PMID:30128812 (HLA-C)
  Authors
Bardeskar NS, Chavan V, Ahir-Bist S, Nanavati R, Samant-Mavani P, Mehta P, Mania-Pramanik J
  Title
Human leukocyte antigen (HLA)-C and its association with HIV-1 transmission in discordant couple and mother-to-child cohorts.
  Journal
Immunogenetics 70:633-638 (2018)
DOI:10.1007/s00251-018-1075-1
Reference
PMID:19812560 (CCL3L1)
  Authors
Urban TJ, Weintrob AC, Fellay J, Colombo S, Shianna KV, Gumbs C, Rotger M, Pelak K, Dang KK, Detels R, Martinson JJ, O'Brien SJ, Letvin NL, McMichael AJ, Haynes BF, Carrington M, Telenti A, Michael NL, Goldstein DB
  Title
CCL3L1 and HIV/AIDS susceptibility.
  Journal
Nat Med 15:1110-2 (2009)
DOI:10.1038/nm1009-1110
Reference
PMID:12854077 (IFNG)
  Authors
An P, Vlahov D, Margolick JB, Phair J, O'Brien TR, Lautenberger J, O'Brien SJ, Winkler CA
  Title
A tumor necrosis factor-alpha-inducible promoter variant of interferon-gamma accelerates CD4+ T cell depletion in human immunodeficiency virus-1-infected individuals.
  Journal
J Infect Dis 188:228-31 (2003)
DOI:10.1086/376455
Reference
PMID:10731151 (CX3CR1)
  Authors
Faure S, Meyer L, Costagliola D, Vaneensberghe C, Genin E, Autran B, Delfraissy JF, McDermott DH, Murphy PM, Debre P, Theodorou I, Combadiere C
  Title
Rapid progression to AIDS in HIV+ individuals with a structural variant of the chemokine receptor CX3CR1.
  Journal
Science 287:2274-7 (2000)
DOI:10.1126/science.287.5461.2274
Reference
PMID:17360650 (CXCR1)
  Authors
Vasilescu A, Terashima Y, Enomoto M, Heath S, Poonpiriya V, Gatanaga H, Do H, Diop G, Hirtzig T, Auewarakul P, Lauhakirti D, Sura T, Charneau P, Marullo S, Therwath A, Oka S, Kanegasaki S, Lathrop M, Matsushima K, Zagury JF, Matsuda F
  Title
A haplotype of the human CXCR1 gene protective against rapid disease progression in HIV-1+ patients.
  Journal
Proc Natl Acad Sci U S A 104:3354-9 (2007)
DOI:10.1073/pnas.0611670104
Reference
PMID:16189667 (IL4R)
  Authors
Soriano A, Lozano F, Oliva H, Garcia F, Nomdedeu M, De Lazzari E, Rodriguez C, Barrasa A, Lorenzo JI, Del Romero J, Plana M, Miro JM, Gatell JM, Vives J, Gallart T
  Title
Polymorphisms in the interleukin-4 receptor alpha chain gene influence susceptibility to HIV-1 infection and its progression to AIDS.
  Journal
Immunogenetics 57:644-54 (2005)
DOI:10.1007/s00251-005-0041-x
Reference
PMID:18976921 (KIR3DL1)
  Authors
Carrington M, Martin MP, van Bergen J
  Title
KIR-HLA intercourse in HIV disease.
  Journal
Trends Microbiol 16:620-7 (2008)
DOI:10.1016/j.tim.2008.09.002
LinkDB

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