KEGG   DISEASE: Leprosy
Entry
H00344                      Disease                                
Name
Leprosy;
Hansen disease
Description
Leprosy, also called Hansen's disease, is a chronic infection caused by Mycobacterium leprae (M. leprae) and the more recently discovered Mycobacterium lepromatosis (M. lepromatosis). It primarily affects peripheral nerves, skin and mucosa particularly the upper respiratory tract.
Category
Bacterial infectious disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 01 Certain infectious or parasitic diseases
  Mycobacterial diseases
   1B20  Leprosy
    H00344  Leprosy
Pathway-based classification of diseases [BR:br08402]
 Immune system
  nt06517  TLR signaling
   H00344  Leprosy
Genome-based classification of infectious diseases [BR:br08401]
 Bacterial infections
  Infections caused by actinobacteria
   H00344  Leprosy
Pathway
hsa04612  Antigen processing and presentation
hsa04650  Natural killer cell mediated cytotoxicity
hsa04620  Toll-like receptor signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04141  Protein processing in endoplasmic reticulum
Network
nt06517 TLR signaling
Gene
(LPRS3) TLR2 [HSA:7097] [KO:K10159]
(LPRS4) LTA [HSA:4049] [KO:K05468]
(LPRS5) TLR1 [HSA:7096] [KO:K05398]
Pathogen
Mycobacterium leprae [GN:mle] (from India)
Mycobacterium leprae [GN:mlb] (from Brazil)
Mycobacterium lepromatosis [GN:mlm]
Drug
Dapsone [DR:D00592]
Other DBs
ICD-11: 1B20
ICD-10: A30
MeSH: D007918
OMIM: 609888 246300 610988 613223
MedlinePlus: 001347
Reference
  Authors
Rodrigues LC, Lockwood DNj
  Title
Leprosy now: epidemiology, progress, challenges, and research gaps.
  Journal
Lancet Infect Dis 11:464-70 (2011)
DOI:10.1016/S1473-3099(11)70006-8
Reference
  Authors
Ploemacher T, Faber WR, Menke H, Rutten V, Pieters T
  Title
Reservoirs and transmission routes of leprosy; A systematic review.
  Journal
PLoS Negl Trop Dis 14:e0008276 (2020)
DOI:10.1371/journal.pntd.0008276
Reference
PMID:15726416 (TLR2)
  Authors
Malhotra D, Relhan V, Reddy BS, Bamezai R
  Title
TLR2 Arg677Trp polymorphism in leprosy: revisited.
  Journal
Hum Genet 116:413-5 (2005)
DOI:10.1007/s00439-004-1249-9
Reference
PMID:17353895 (LTA)
  Authors
Alcais A, Alter A, Antoni G, Orlova M, Nguyen VT, Singh M, Vanderborght PR, Katoch K, Mira MT, Vu HT, Ngyuen TH, Nguyen NB, Moraes M, Mehra N, Schurr E, Abel L
  Title
Stepwise replication identifies a low-producing lymphotoxin-alpha allele as a major risk factor for early-onset leprosy.
  Journal
Nat Genet 39:517-22 (2007)
DOI:10.1038/ng2000
Reference
PMID:17548585 (TLR1)
  Authors
Johnson CM, Lyle EA, Omueti KO, Stepensky VA, Yegin O, Alpsoy E, Hamann L, Schumann RR, Tapping RI
  Title
Cutting edge: A common polymorphism impairs cell surface trafficking and functional responses of TLR1 but protects against leprosy.
  Journal
J Immunol 178:7520-4 (2007)
DOI:10.4049/jimmunol.178.12.7520
Reference
PMID:14737177 (PRKN)
  Authors
Mira MT, Alcais A, Nguyen VT, Moraes MO, Di Flumeri C, Vu HT, Mai CP, Nguyen TH, Nguyen NB, Pham XK, Sarno EN, Alter A, Montpetit A, Moraes ME, Moraes JR, Dore C, Gallant CJ, Lepage P, Verner A, Van De Vosse E, Hudson TJ, Abel L, Schurr E
  Title
Susceptibility to leprosy is associated with PARK2 and PACRG.
  Journal
Nature 427:636-40 (2004)
DOI:10.1038/nature02326
Reference
PMID:16728267 (HLA)
  Authors
Geluk A, Ottenhoff TH
  Title
HLA and leprosy in the pre and postgenomic eras.
  Journal
Hum Immunol 67:439-45 (2006)
DOI:10.1016/j.humimm.2006.03.009
LinkDB

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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]
 Immune system
  nt06517  TLR signaling
   H00342  Tuberculosis
Genome-based classification of infectious diseases [BR:br08401]
 Bacterial infections
  Infections caused by actinobacteria
   H00342  Tuberculosis
Disease
pathway
hsa05152  Tuberculosis
Pathway
hsa04620  Toll-like receptor signaling pathway
Network
nt06517 TLR 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
ICD-10: A15 A16 A17 A18 A19
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

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