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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01259 | Giant axonal neuropathy | ... characterized by an early onset severe peripheral neuropathy, varying central nervous system involvement and strikingly frizzly hair. Giant axonal neuropathy-2 (GAN2) is an autosomal dominant disorder, caused by mutations ... | Neurodegenerative disease |
(GAN1) GAN [HSA:8139] [KO:K10453] (GAN2) DCAF8 [HSA:50717] [KO:K11804] |
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| H01263 |
Progressive cardiac conduction defect (PCCD) Progressive familial heart block (PFHB) Lenegre-Lev disease |
... bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system. It leads to complete atrioventricular block causing syncope and sudden death. Mutations ... | Cardiovascular disease |
(PFHB1A) SCN5A [HSA:6331] [KO:K04838] (PFHB1B) TRPM4 [HSA:54795] [KO:K04979] |
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| H01275 |
Interleukin 1 receptor antagonist deficiency Multifocal osteomyelitis with periostitis and pustulosis |
Interleukin 1 receptor antagonist deficiency (DIRA) is a rare autosomal recessive autoinflammatory disease caused by mutations in IL1RN. The absence of interleukin 1 receptor (IL-1R) antagonist allows ... | Immune system disease | IL1RN [HSA:3557] [KO:K05481] | |
| H01307 | Nonsyndromic congenital nail disorder | ... by mutations in PLCD1. Defects in COL7A1 can cause heterogeneous clinical phenotypes extending from simple toe-nail dystrophy without skin fragility to typical dominant dystrophic epidermolysis bullosa. | Skin disease |
(NDNC1) FZD6 [HSA:8323] [KO:K02376] (NDNC3) PLCD1 [HSA:5333] [KO:K05857] (NDNC4) RSPO4 [HSA:343637] [KO:K23099] (NDNC8) COL7A1 [HSA:1294] [KO:K16628] |
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| H01309 | Sarcoidosis, early-onset | ... etiology. It occurs in children younger than 4 years of age and is characterized by a distinct triad of skin, joint, and eye disorders without apparent pulmonary involvement. Mutations in the gene encoding ... | Immune system disease | NOD2 [HSA:64127] [KO:K10165] | |
| H01316 |
Dermatophytosis Ringworm |
Dermatophytosis (tinea, ringworm) is an infection of keratinized structures, such as the hair, skin or nails caused by dermatophyte fungi of the genera Trichophyton, Epidermophyton or Microsporum. Tinea ... | Fungal infectious disease | ||
| H01318 | Yaws | ... certain tropical regions. Clinical manifestations of yaws are divided into various stages. Early stage skin lesions are infectious and can persist for weeks or months. Involvement of the bones of the upper ... | Bacterial infectious disease | ||
| H01329 | Paracoccidioidomycosis | ... caused by intense and continued contact with the soil. It can affect any organ in the body, but it is primarily involved in the lungs and potentially disseminates to other organs, mainly mucosa and skin. | Fungal infectious disease | ||
| H01330 | Brazilian purpuric fever | ... disease is characterized by purulent conjunctivitis and subsequent acute onset of nausea, vomiting, hemorrhagic skin lesions, fever, prostration, and shock. Vascular destruction is a distinctive trait. | Bacterial infectious disease | ||
| H01334 |
Tinea versicolor Pityriasis versicolor |
... dermatomycosis furfuracea and tinea flava, is caused by Malassezia species which are naturally found on the skin surfaces of many animals, including humans. Patients with tinea versicolor most commonly have multiple ... | Fungal infectious disease | ||
| H01338 | Myosclerosis | ... mutation of COL6A2. This disease is one of the collagen VI myopathies, characterized by difficulty in walking in early childhood, toe walking, and progressive contractures of calf muscles. In the early 30s ... | Nervous system disease; Musculoskeletal disease | COL6A2 [HSA:1292] [KO:K06238] | |
| H01341 | Collagen VI myopathy | ... surrounding basement membrane. Thus, collagen VI mutations result in disorders with combined muscle and connective tissue involvement, including weakness, joint and contractures, and abnormal skin findings. | Nervous system disease; Musculoskeletal disease |
COL6A1 [HSA:1291] [KO:K06238] COL6A2 [HSA:1292] [KO:K06238] COL6A3 [HSA:1293] [KO:K06238] |
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| H01357 | Allergic contact dermatitis | Allergic contact dermatitis (ACD) is a T-cell mediated skin inflammation caused by repeated skin exposure to contact allergens. Although regarded as a dermatosis that is typically triggered by environmental ... | Immune system disease | ||
| H01358 | Atopic dermatitis | Atopic dermatitis (ATOD) is a relapsing chronic inflammatory skin disease characterized by eczematous skin lesions and intense pruritus. A genetic defect in the filaggrin (FLG) protein and/or environmental ... | Immune system disease; Skin disease | (ATOD2) FLG [HSA:2312] [KO:K10384] | |
| H01360 | Allergic rhinitis | ... for molecules implicated in the pathogenesis of AR have also been made. Such molecules comprise chemokines and their receptors, interleukins and their receptors, eosinophil peroxidase and leukotrienes, ... | Immune system disease |
IL13 [HSA:3596] [KO:K05435] FOXJ1 [HSA:2302] [KO:K09402] |
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| H01362 | Dermatitis herpetiformis | Dermatitis herpetiformis (DH) is a chronic, polymorphic, pruritic skin disease that develops mostly in patients with latent gluten-sensitive enteropathy. There is an association with the genotypes HLA ... | Immune system disease; Skin disease |
HLA-DQA1 [HSA:3117] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] HLA-DR3 HLA-B8 |
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| H01372 | Vitiligo | ... multifactorial, polygenic disease in which autoimmune loss of melanocytes results in depigmented spots of skin, overlying hair, and mucous membranes. Some familial forms of vitiligo have recently been linked ... | Skin disease |
(VAMAS1) NLRP1 [HSA:22861] [KO:K12798] (VAMAS2) FOXD3 [HSA:27022] [KO:K09397] |
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| H01382 |
Polyarteritis nodosa Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome ADA2 deficiency |
... medium and small muscular arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems ... | Immune system disease | CECR1 [HSA:51816] [KO:K19572] | |
| H01387 | Activated PI3K-delta syndrome | ... impaired vaccine responses. A dominant gain-of-function mutation has been found in the p110-delta protein, the catalytic subunit of phosphoinositide 3-kinase delta (PI3K-delta), encoded by the PIK3CD gene. | Immune system disease |
(APDS/IMD14) PIK3CD [HSA:5293] [KO:K00922] (APDS2/IMD36) PIK3R1 [HSA:5295] [KO:K02649] |
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| H01401 | Methicillin-resistant Staphylococcus epidermidis (MRSE) infection | ... Staphylococcus known as pathogen of human and other mammals causes various diseases ranging from minor skin infections to life-threatening bacteremia. The two major opportunistic pathogens in the Staphylococcus ... | Bacterial infectious disease | ||
| H01404 | Punctate palmoplantar keratoderma | Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. PPKPs are classified ... | Congenital malformation |
(PPKP1A) AAGAB [HSA:79719] [KO:K23878] (PPKP1B) COL14A1 [HSA:7373] [KO:K08133] |
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| H01405 | Lactococcus garvieae infection | ... also been isolated from buffaloes with mastitis, and clinical specimens of human blood, urine, and skin. However, it is an unusual human pathogen. Only a few infections have been described so far, including ... | Bacterial infectious disease | ||
| H01409 | Methicillin-sensitive Staphylococcus aureus (MSSA) infection | ... strain, S. aureus strain 6850 is a well-characterized prototype strain isolated from a patient with a skin abscess which had progressed to S. aureus bacteremia, osteomyelitis, septic arthritis, and multiple ... | Bacterial infectious disease | hsa05150 Staphylococcus aureus infection | |
| H01410 | Anaerobic infection | ... four major sites of anaerobic infection - pleuropulmonary, intra-abdominal, female genital tract, and skin and soft tissue infections (with or without involvement of underlying bone). Infectious diseases ... | Bacterial infectious disease | ||
| H01418 |
Condyloma acuminatum Condylomata acuminata Genital warts |
... (STI) caused by the human papillomavirus (HPV). It is characterized by fleshy papules on the mucosa and skin of the anorectum and genitalia, with genital disease being more prevalent than anorectal disease ... | Viral infectious disease | ||
| H01425 | Lysosomal storage disease | ... Defects in lysosomal transporters: Cystinosis, Sialuria, Danon disease 5. Defects in lysosomal trafficking: Niemann-Pick disease type C, Mucolipidosis II, III, and IV, Neuronal ceroid lipofuscinosis, Hermansky-Pudlak ... | Inherited metabolic disorder | ||
| H01426 | Invasive streptococcal disease | ... is necrotising fasciitis, characterized by extensive local necrosis of subcutaneous soft tissues and skin and the isolation of S. pyogenes from a normally sterile body site. The other is a group of infections ... | Bacterial infectious disease | ||
| H01428 | Xeroderma pigmentosum | Xeroderma pigmentosum (XP) is a rare autosomal-inherited, skin and neurodegenerative disease in which exposure to sunlight can result in a high incidence of skin and mucous membrane cancer. XP is classified ... | Congenital malformation |
(XPA) XPA [HSA:7507] [KO:K10847] (XPB) ERCC3 [HSA:2071] [KO:K10843] (XPC) XPC [HSA:7508] [KO:K10838] (XPD) ERCC2 [HSA:2068] [KO:K10844] (XPE) DDB2 [HSA:1643] [KO:K10140] (XPF) ERCC4 [HSA:2072] [KO:K10848] (XPG) ERCC5 [HSA:2073] [KO:K10846] (XPV) POLH [HSA:5429] [KO:K03509] |
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| H01431 | Cushing syndrome | ... AIP (encoding aryl-hydrocarbon receptor-interacting protein), PRKAR1A (encoding cAMP-dependent protein kinase type I alpha regulatory subunit) and CDKN1B (encoding cyclin-dependent kinase inhibitor 1B; also ... | Endocrine and metabolic disease | hsa04934 Cushing syndrome |
(MEN1) MEN1 [HSA:4221] [KO:K14970] (MEN4) CDKN1B [HSA:1027] [KO:K06624] (CNC1) PRKAR1A [HSA:5573] [KO:K04739] (PITA1) AIP [HSA:9049] [KO:K17767] (PITA2) GPR101 [HSA:83550] [KO:K08423] (PITA3) GNAS [HSA:2778] [KO:K04632] (PITA4) USP8 [HSA:9101] [KO:K11839] (PITA5) CDH23 [HSA:64072] [KO:K06813] (AIMAH2) ARMC5 [HSA:79798] [KO:K22499] (PPNAD1) PRKAR1A [HSA:5573] [KO:K04739] (PPNAD2) PDE11A [HSA:50940] [KO:K13298] (PPNAD3) PDE8B [HSA:8622] [KO:K18437] (PPNAD4) PRKACA [HSA:5566] [KO:K04345] RASD1 [HSA:51655] [KO:K07843] |
| H01440 |
Acute necrotizing ulcerative gingivitis Vincent gingivitis Vincent angina Trench mouth |
... flora. Predisposing factors include poor oral hygiene, advancing age, impaired nutritional status, smoking or chewing tobacco, immunosuppression, preexisting gingivitis, extreme stress, or lack of sleep ... | Bacterial infectious disease | ||
| H01441 | Pseudomonas aeruginosa infection | Pseudomonas aeruginosa is a leading cause of nosocomial bloodstream infections, ranking third among gram-negative bacteria, after Escherichia coli and Klebsiella species. Intrinsic resistance has been ... | Bacterial infectious disease | ||
| H01442 |
Septic arthritis Pyogenic arthritis |
... Staphylococcus aureus, Haemophilus influenzae type-b, and Group A Streptococcus, Streptococcus pneumoniae, Kingella kingae, Neisseria meningitidis and Salmonella spp. are the predominant anaerobic bacteria that ... | Bacterial infectious disease | ||
| H01445 | Acne vulgaris | ... Propionibacterium acnes. P. acnes is a Gram-positive bacterium that forms part of the normal flora of the skin, oral cavity, large intestine, the conjunctiva and the external ear canal. Although P. acnes is primarily ... | Bacterial infectious disease | ||
| H01446 | Propionibacterium acnes infection | ... Gram-positive bacterium Propionibacterium acnes which forms part of the normal resident human microbiota of the skin, oral cavity, and gastrointestinal and genitourinary tracts. The organism is an opportunistic pathogen ... | Bacterial infectious disease | ||
| H01447 | Body dysmorphic disorder | ... comparing one's appearance with the appearance of others, excessive camouflaging to hide the defect, and seeking reassurance. Patients experience significant distress, disability, and functional impairment, often ... | Mental and behavioural disorder | ||
| H01449 |
Excoriation disorder Skin picking disorder |
Excoriation Disorder, also known as Skin Picking Disorder, is characterized by the repetitive and compulsive scratching or picking of skin, which causes tissue damage. Patients spend a significant amount ... | Mental and behavioural disorder | ||
| H01451 | Actinomycetoma | Mycetoma is an infectious disease of skin and subcutaneous tissue. It can be caused by either bacteria (actinomycetoma) or fungi (eumycetoma [DS:H02385] ). It is endemic in tropical and subtropical regions ... | Bacterial infectious disease | ||
| H01458 | Nontuberculous mycobacterial infection | ... clinical diseases, for instance, pulmonary disease is most frequent, followed by lymphadenitis in children, skin disease and other extrapulmonary or disseminated infections in the severely immunocompromised. | Bacterial infectious disease | ||
| H01461 |
Crow-Fukase syndrome POEMS syndrome |
... neoplasm, characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes as its salient features. Major diagnostic criteria include sclerotic bone lesions, elevated ... | Neoplasm | ||
| H01463 | Mycosis fungoides | ... primary cutaneous T-cell lymphomas (CTCL), which are a heterogeneous group of malignancies derived from skin-homing T cells. MF presents in the skin with erythematous patches, plaques, and less frequently, ... | Cancer |
p16/INK4a, ARF (mutation,deletion) [HSA:1029] [KO:K06621] p15/INK4b (mutation, deletion) [HSA:1030] [KO:K04685] PTEN (mutation) [HSA:5728] [KO:K01110] p53 (mutation) [HSA:7157] [KO:K04451] JUNB (mutation) [HSA:3726] [KO:K09028] Fas (loss of expression) [HSA:355] [KO:K04390] Nav3 (deletion) [HSA:89795] [KO:K23919] c-MYC (amplification) [HSA:4609] [KO:K04377] |
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