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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01182 |
Biotinidase deficiency BTD deficiency Late-onset multiple carboxylase deficiency |
... is defective and the biotin is not recycled. Patients often exhibit feeding or breathing difficulties, skin rash, alopecia, hypotonia and seizures. Biotin treatment can ameliorate or prevent symptoms. | Inherited metabolic disorder | BTD [HSA:686] [KO:K01435] | |
| H01187 |
Tietz syndrome Albinism-deafness syndrome |
Tietz syndrome is an autosomal dominant syndrome of hypopigmentation and deafness. A missense mutation has been found in the basic region of the MITF (microphthalmia associated transcription factor) gene ... | Skin disease | MITF [HSA:4286] [KO:K09455] | |
| H01217 | Primary localized cutaneous amyloidosis | Primary localized cutaneous amyloidosis (PLCA) is a chronic itchy skin disorder associated with amyloid deposits in the superficial dermis. It is a purely cutaneous disease with no association with systemic ... | Skin disease |
(PLCA1) OSMR [HSA:9180] [KO:K05057] (PLCA2) IL31RA [HSA:133396] [KO:K22630] (PLCA3) GPNMB [HSA:10457] [KO:K20732] |
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| H01258 | Generalized epilepsy and paroxysmal dyskinesia | Epilepsy is one of the most common and debilitating neurological disorders, and paroxysmal dyskinesia is another heterogeneous group of neurological disorders characterized by sudden, unpredictable, disabling ... | Nervous system disease | KCNMA1 [HSA:3778] [KO:K04936] | |
| H01275 |
Interleukin 1 receptor antagonist deficiency Multifocal osteomyelitis with periostitis and pustulosis |
... caused by mutations in IL1RN. The absence of interleukin 1 receptor (IL-1R) antagonist allows unopposed action of IL-1, resulting in life threatening systemic inflammation with skin and bone involvement. | 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 | ||
| 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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| H01349 |
Methacrylic aciduria 3-Hydroxy-isobutyryl-CoA hydrolase deficiency |
... HIBCH is a mitochondrial enzyme of valine catabolism. Patients demonstrated delayed development of motor skills, hypotonia, initial poor feeding, and a deterioration in neurological function during the first ... | Inherited metabolic disorder, Mitochondrial disease | HIBCH [HSA:26275] [KO:K05605] | |
| 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] | |
| 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] | |
| 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 | ... has 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 | ||
| 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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| 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 ... | 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 | ||
| 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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| H01468 |
Eosinophilic granulomatosis with polyangiitis Churg-Strauss syndrome |
... phase is dominated by manifestations resulting from systemic vasculitis. Vasculitis commonly affects the skin, nerves, gastrointestinal tract, and heart. It can be serious and life-threatening. EGPA pathogenesis ... | Immune system disease | ||
| H01476 |
Behcet disease Behcet syndrome |
... inflammatory disease characterized by relapsing episodes of oral aphthous ulcers, genital ulcers, other skin lesions, and uveitis. It can also involve visceral organs such as the gastrointestinal tract, pulmonary ... | Immune system disease; Skin disease | ||
| H01492 |
Systemic sclerosis Systemic scleroderma |
Systemic sclerosis (scleroderma) is an autoimmune disease that is characterized by fibrosis of the skin and major internal organs. The core symptoms of this disease are Raynaud's phenomenon, skin thickening ... | Immune system disease; Skin disease | ||
| H01493 |
Localized Scleroderma Morphea |
Localized scleroderma, also known as morphea, is a rare fibrosing disorder of the skin and underlying tissues. Sclerosis is mainly limited to the skin, but subcutaneous tissue, fascia, and underlying muscles ... | Immune system disease; Skin disease | (DPMC) STAT4 [HSA:6775] [KO:K11222] | |
| H01501 | Blastomycosis | ... in human tissue. Blastomycosis is primarily a pulmonary infection, but dissemination occurs frequently and leads to the involvement of skin, bones and joints, the genitourinary tract, and other areas. | Fungal infectious disease | ||
| H01502 | Sjogren syndrome | ... extraglandular manifestations can develop, including fatigue, arthritis, and involvement of organs such as the skin, lungs, and kidneys. SS may occur as a primary disorder or in association with other systemic autoimmune ... | Immune system disease |
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