MCID: LPR021
MIFTS: 50

Leprosy 3

Categories: Genetic diseases, Infectious diseases, Neuronal diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Leprosy 3

MalaCards integrated aliases for Leprosy 3:

Name: Leprosy 3 57 29 6
Leprosy 57 12 76 25 59 3 44 15 73
Leprosy, Susceptibility to 57 13
Infection Due to Mycobacterium Leprae 25
Leprosy, Susceptibility to, 3 57
Hansen's Disease 25
Leprosy, Type 3 40
Hansen Disease 25
Lprs3 57

Characteristics:

Orphanet epidemiological data:

59
leprosy
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
see for a discussion on leprosy susceptibility



Classifications:



External Ids:

OMIM 57 246300
Disease Ontology 12 DOID:1024
ICD10 33 A30 A30.9
ICD9CM 35 030 030.9
MeSH 44 D007918
NCIt 50 C84824
Orphanet 59 ORPHA548
UMLS via Orphanet 74 C0023343
MESH via Orphanet 45 D007918
MedGen 42 C1968668
SNOMED-CT via HPO 69 263681008 258211005
UMLS 73 C0023343

Summaries for Leprosy 3

Genetics Home Reference : 25 Leprosy, also called Hansen disease, is a disorder known since ancient times. It is caused by bacteria called Mycobacterium leprae and is contagious, which means that it can be passed from person to person. It is usually contracted by breathing airborne droplets from affected individuals' coughs and sneezes, or by coming into contact with their nasal fluids. However, it is not highly transmissible, and approximately 95 percent of individuals who are exposed to Mycobacterium leprae never develop leprosy. The infection can be contracted at any age, and signs and symptoms can take anywhere from several months to 20 years to appear.

MalaCards based summary : Leprosy 3, also known as leprosy, is related to borderline leprosy and tuberculoid leprosy, and has symptoms including skin lesions, sensory loss and motor loss. An important gene associated with Leprosy 3 is TLR2 (Toll Like Receptor 2), and among its related pathways/superpathways are Allograft rejection and Regulation of IFNA signaling. Affiliated tissues include superficial peripheral nerves, skin and mucous membranes of the upper respiratory tract, and related phenotypes are abnormality of the immune system and cellular

Disease Ontology : 12 A primary bacterial infectious disease that results in infection located in superficial peripheral nerves, located in skin, located in mucous membranes of the upper respiratory tract, located in anterior chamber of the eyes, or located in testes, has material basis in Mycobacterium leprae, which is transmitted by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has symptom skin lesions, has symptom sensory loss, has symptom motor loss and has symptom eye damage.

Wikipedia : 76 Leprosy, also known as Hansen\'s disease (HD), is a long-term infection by the bacterium Mycobacterium... more...

Description from OMIM: 246300

Related Diseases for Leprosy 3

Diseases in the Leprosy 3 family:

Leprosy 2 Leprosy 1
Leprosy 4 Leprosy 5
Leprosy 6

Diseases related to Leprosy 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 187)
# Related Disease Score Top Affiliating Genes
1 borderline leprosy 35.2 CD40LG MLLT1 SDHD
2 tuberculoid leprosy 34.8 IFNG IL10 MLLT1 SDHD
3 lepromatous leprosy 34.0 IFNG IL10 IL12RB2 IL2 TLR2 TNF
4 leprosy 2 11.3
5 leprosy 4 11.2
6 oral tuberculosis 11.1 IL2 TNF
7 leprosy 1 11.0
8 leprosy 5 11.0
9 leprosy 6 11.0
10 punctate inner choroidopathy 11.0 IL10 TNF
11 ross river fever 11.0 CD40LG IL10
12 tropical endomyocardial fibrosis 11.0 IL10 TNF
13 trench fever 11.0 CD40LG TLR2 TNF
14 nontuberculous mycobacterial lung disease 11.0 SLC11A1 TLR2 TNF
15 middle ear disease 11.0 CD40LG TLR2 TNF
16 sennetsu fever 11.0 HSPD1 HSPE1
17 variola major 10.9 IFNG IL2
18 legionellosis 10.9 CD40LG TLR2 TNF
19 lymph node disease 10.9 CD40LG SDHD TNF
20 subacute cutaneous lupus erythematosus 10.9 MBD1 TNF
21 tularemia 10.9 HSPE1 SLC11A1 TLR2
22 pelvic inflammatory disease 10.9 CD40LG HSPD1 TLR2
23 staphylococcal toxic shock syndrome 10.9 IFNG TNF
24 progressive multifocal leukoencephalopathy 10.9 CD40LG IL2 TNF
25 commensal bacterial infectious disease 10.9 CD40LG IL2 TNF
26 hyperlucent lung 10.9 IFNG IL10
27 microscopic polyangiitis 10.9 IL10 TNF
28 exanthem 10.9 CD40LG IL2 TNF
29 multifocal choroiditis 10.9 IL10 TNF
30 far eastern spotted fever 10.9 HSPD1 IFNG
31 multidrug-resistant tuberculosis 10.9 IL10 SLC11A1 TNF
32 sporotrichosis 10.9 CD40LG IFNG IL10
33 panuveitis 10.9 CD40LG IL10 TNF
34 post-transplant lymphoproliferative disease 10.9 IL10 SLC11A1 TNF
35 autoimmune myocarditis 10.9 IFNG IL2 TNF
36 immunoglobulin a deficiency 1 10.9 CD40LG IL10
37 tungiasis 10.9 IL10 TNF
38 churg-strauss syndrome 10.9 CD40LG IL10 TNF
39 lichen disease 10.9 CD40LG IFNG TNF
40 hemorrhagic fever with renal syndrome 10.9 CD40LG IL10 TNF
41 encephalitozoonosis 10.9 CD40LG TNF
42 cat-scratch disease 10.9 CD40LG HSPD1 IFNG
43 extrinsic cardiomyopathy 10.8 CD40LG IL10 TNF
44 hepatitis e 10.8 CD40LG IFNG TNF
45 endomyocardial fibrosis 10.8 IL10 TNF
46 crohn's colitis 10.8 IFNG IL2 TNF
47 leukocyte disease 10.8 CD40LG IL2 TNF
48 microscopic colitis 10.8 IFNG IL2 TNF
49 idiopathic neutropenia 10.8 CD40LG IL10 TNF
50 posterior uveitis 10.8 IFNG IL2 TNF

Comorbidity relations with Leprosy 3 via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Leprosy 3:



Diseases related to Leprosy 3

Symptoms & Phenotypes for Leprosy 3

Symptoms via clinical synopsis from OMIM:

57
Immunology:
susceptibility to infection by mycobacterium leprae causing leprosy


Clinical features from OMIM:

246300

Symptoms:

12
  • skin lesions
  • sensory loss
  • motor loss
  • eye damage

Human phenotypes related to Leprosy 3:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the immune system 32 HP:0002715

MGI Mouse Phenotypes related to Leprosy 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 PRKN IL10 SDHD CD40LG IL2 HSPD1
2 hematopoietic system MP:0005397 10.06 MLLT1 IL10 SDHD IL12RB2 CD40LG IL2
3 homeostasis/metabolism MP:0005376 10.03 PRKN IL10 CCDC122 IL12RB2 CD40LG GPR89B
4 endocrine/exocrine gland MP:0005379 10.02 IL10 SDHD IL12RB2 CD40LG GPR89B IL2
5 digestive/alimentary MP:0005381 9.95 IL10 IL12RB2 IL2 IFNG TNF SLC11A1
6 immune system MP:0005387 9.9 MLLT1 IL10 IL12RB2 CD40LG GPR89B IL2
7 liver/biliary system MP:0005370 9.5 MLLT1 IL10 IL12RB2 IL2 IFNG TNF
8 neoplasm MP:0002006 9.28 SDHD IL12RB2 IL2 IFNG MLLT1 IL10

Drugs & Therapeutics for Leprosy 3

Search Clinical Trials , NIH Clinical Center for Leprosy 3

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: leprosy

Genetic Tests for Leprosy 3

Genetic tests related to Leprosy 3:

# Genetic test Affiliating Genes
1 Leprosy 3 29 TLR2

Anatomical Context for Leprosy 3

The Foundational Model of Anatomy Ontology organs/tissues related to Leprosy 3:

19
Superficial Peripheral Nerves, Skin, Mucous Membranes Of The Upper Respiratory Tract, Anterior Chamber Of The Eyes, Testes

MalaCards organs/tissues related to Leprosy 3:

41
Eye, Skin, Testes

Publications for Leprosy 3

Articles related to Leprosy 3:

# Title Authors Year
1
Linkage of leprosy susceptibility to Parkinson's disease genes. ( 15301585 )
2004

Variations for Leprosy 3

ClinVar genetic disease variations for Leprosy 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TLR2 NM_003264.4(TLR2): c.2029C> T (p.Arg677Trp) single nucleotide variant risk factor rs121917864 GRCh37 Chromosome 4, 154626088: 154626088
2 TLR2 NM_003264.4(TLR2): c.2029C> T (p.Arg677Trp) single nucleotide variant risk factor rs121917864 GRCh38 Chromosome 4, 153704936: 153704936

Copy number variations for Leprosy 3 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 255081 9 72339785 73251640 Duplication TRPM3 Leprosy

Expression for Leprosy 3

Search GEO for disease gene expression data for Leprosy 3.

Pathways for Leprosy 3

Pathways related to Leprosy 3 according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 CD40LG HSPD1 IFNG IL10 IL12RB2 IL2
2
Show member pathways
12.58 IFNG IL10 IL12RB2 IL2 TNF
3 12.4 CD40LG IFNG IL10 IL2 TLR2 TNF
4
Show member pathways
12.36 CD40LG IFNG IL10 IL2 TNF
5
Show member pathways
12.22 IFNG IL10 IL12RB2 IL2 TLR2 TNF
6
Show member pathways
12.15 CD40LG IFNG IL10 TLR2 TNF
7 12.13 HSPD1 IL10 MBD1 TNF
8 12.11 HSPD1 IFNG IL10 TLR2 TNF
9 11.93 IFNG IL10 IL2 TNF
10
Show member pathways
11.91 IFNG IL10 IL12RB2 IL2 TLR2 TNF
11 11.84 IFNG IL10 IL12RB2 IL2
12 11.82 IFNG IL10 TLR2 TNF
13 11.77 IFNG TLR2 TNF
14
Show member pathways
11.69 CD40LG IFNG IL2 TNF
15 11.66 IFNG IL10 IL2 TNF
16
Show member pathways
11.59 IFNG IL2 TNF
17 11.54 HSPD1 TLR2 TNF
18
Show member pathways
11.53 CD40LG IFNG IL2 TNF
19 11.51 IFNG IL2 TNF
20 11.47 IFNG IL2 TNF
21 11.46 IFNG TLR2 TNF
22 11.33 IFNG IL10 IL12RB2 IL2
23 11.3 IFNG IL10 TNF
24 11.27 CD40LG IFNG IL2
25 11.26 IFNG IL10 IL12RB2 IL2 TNF
26 11.14 IFNG IL10 IL2
27 11.03 IFNG IL10 IL2 TNF
28 10.71 CD40LG IFNG IL10 TLR2 TNF

GO Terms for Leprosy 3

Biological processes related to Leprosy 3 according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.97 CD40LG IFNG IL10 IL2 TNF
2 inflammatory response GO:0006954 9.93 CD40LG IL10 SLC11A1 TLR2 TNF
3 positive regulation of gene expression GO:0010628 9.92 IFNG PRKN SLC11A1 TLR2 TNF
4 response to lipopolysaccharide GO:0032496 9.85 IL10 IL12RB2 SLC11A1 TLR2
5 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.76 HSPD1 HSPE1 TNF
6 immune response GO:0006955 9.7 CD40LG IFNG IL10 IL2 SLC11A1 TLR2
7 positive regulation of interleukin-6 production GO:0032755 9.67 HSPD1 TLR2 TNF
8 interleukin-12-mediated signaling pathway GO:0035722 9.65 IFNG IL10 IL12RB2
9 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.62 IFNG TNF
10 regulation of regulatory T cell differentiation GO:0045589 9.61 IFNG IL2
11 positive regulation of macrophage activation GO:0043032 9.61 HSPD1 IL10
12 negative regulation of growth of symbiont in host GO:0044130 9.6 IL10 TNF
13 response to molecule of bacterial origin GO:0002237 9.59 IL10 TLR2
14 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.58 IL10 TNF
15 endothelial cell apoptotic process GO:0072577 9.56 IL10 TNF
16 B cell proliferation GO:0042100 9.54 CD40LG HSPD1 IL10
17 negative regulation of cytokine secretion involved in immune response GO:0002740 9.51 IL10 TNF
18 regulation of immunoglobulin secretion GO:0051023 9.46 CD40LG TNF
19 receptor biosynthetic process GO:0032800 9.43 IL10 TNF
20 positive regulation of interleukin-10 production GO:0032733 9.43 CD40LG HSPD1 TLR2
21 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.4 IFNG TNF
22 positive regulation of vitamin D biosynthetic process GO:0060557 9.32 IFNG TNF
23 positive regulation of interleukin-12 production GO:0032735 9.26 CD40LG HSPD1 IFNG TLR2
24 positive regulation of interferon-gamma production GO:0032729 9.02 HSPD1 IL12RB2 IL2 SLC11A1 TNF

Molecular functions related to Leprosy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 9.26 HSPD1 HSPE1 PACRG PRKN
2 cytokine activity GO:0005125 9.02 CD40LG IFNG IL10 IL2 TNF

Sources for Leprosy 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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