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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00344 |
Leprosy Hansen disease |
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 ... | Bacterial infectious disease |
(LPRS3) TLR2 [HSA:7097] [KO:K10159] (LPRS4) LTA [HSA:4049] [KO:K05468] (LPRS5) TLR1 [HSA:7096] [KO:K05398] |
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| H00719 |
Leprechaunism Donohue syndrome |
Leprechaunism (Donohue syndrome, DS) is an autosomal recessive disorder of insulin-resistance characterized by intrauterine and postnatal growth retardation, acanthosis nigricans, lipoatrophy, and genitomegaly ... | Endocrine and metabolic disease | INSR [HSA:3643] [KO:K04527] | |
| H01228 |
Insulin-resistant diabetes mellitus with acanthosis nigricans Type A insulin resistance |
... polycystic ovarian disease in a patient who is usually not obese. There is no distinctive serum marker. Leprechaunism [DS:H00719] and the Rabson-Mendenhall syndrome [DS:H00942] also have mutations in INSR ... | Metabolic disease; Endocrine disease | INSR [HSA:3643] [KO:K04527] | |
| H01458 | Nontuberculous mycobacterial infection | Mycobacteria species other than the obligate pathogens Mycobacterium tuberculosis complex and Mycobacterium leprae are known as nontuberculous mycobacteria (NTM) or atypical mycobacteria. NTM are normal inhabitants ... | Bacterial infectious disease | ||
| H01473 | Erythema nodosum leprosum | Reactional states of leprosy are expressions of immunological disturbance and are generally divided into two variants: type 1 (Jopling's type I or reversal reaction) and type 2 (Jopling's type II reaction) ... | Bacterial infectious disease | ||
| H02041 | Myopia | ... and to date a few causative genes have been identified. It was reported that high myopia with cataract and vitreoretinal degeneration (MCVD) is caused by homozygous mutation in the LEPREL1 (P3H2) gene. | Nervous system disease |
(MYP6) SCO2 [HSA:9997] [KO:K23755] (MYP21) ZNF644 [HSA:84146] [KO:K24374] (MYP22) PRIMPOL [HSA:201973] [KO:K22761] (MYP23) LRPAP1 [HSA:4043] [KO:K22290] (MYP24) SLC39A5 [HSA:283375] [KO:K14711] (MYP25) P4HA2 [HSA:8974] [KO:K00472] (MYP26) ARR3 [HSA:407] [KO:K13801] (MYP27) CPSF1 [HSA:29894] [KO:K14401] (MYP28) LOXL3 [HSA:84695] [KO:K00280] (MCVD) P3H2 [HSA:55214] [KO:K22459] |
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| H02060 | Leptin receptor deficiency | Leptin receptor deficiency (LEPRD) is an autosomal recessive condition that causes severe early-onset obesity and pituitary dysfunction. Mutations in LEPR gene encoding leptin receptor cause this disease | Endocrine and metabolic disease | LEPR [HSA:3953] [KO:K05062] |
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