KEGG MEDICUS 疾患情報 |
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| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
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| H02407 | 毛様線虫症 | Trichostrongyliasis is an infectious disease caused by nematodes of the genus Trichostrongylus. Over 10 species of Trichostrongylus have been reported in humans. Trichostrongylus colubriformis and T. orientalis ... | 寄生虫感染症 | ||
| H02408 | 瓜実条虫症 | Dipylidiasis is a rare zoonotic infectious disease caused by Dipylidium caninum, a common intestinal tapeworm of dogs and cats. Humans get infection by accidental ingestion of the intermediate hosts. This ... | 寄生虫感染症 | ||
| H02409 | 二腔吸虫感染症 | Dicrocoeliosis is a rare food-borne parasitic zoonosis caused by Dicrocoelium dendriticum, commonly known as the Lancet liver fluke. Human infection occurs by accidental ingestion of the second intermediate ... | 寄生虫感染症 | ||
| H02410 | 骨髄異形成/骨髄増殖性腫瘍 | Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hybrid group of chronic myeloid neoplasms combining features of both myelodysplastic (MDS) [DS:H01481] and myeloproliferative neoplasms (MPN) ... | がん |
DNMT3A (mutation) [HSA:1788] [KO:K17398] TET2 (mutation) [HSA:54790] [KO:K24309] IDH1 (mutation) [HSA:3417] [KO:K00031] IDH2 (mutation) [HSA:3418] [KO:K00031] ASXL1 (mutation) [HSA:171023] [KO:K11471] EZH2 (mutation) [HSA:2146] [KO:K11430] NRAS (mutation) [HSA:4893] [KO:K07828] KRAS (mutation) [HSA:3845] [KO:K07827] JAK2 (mutation) [HSA:3717] [KO:K04447] CBL (mutation) [HSA:867] [KO:K04707] SETBP1 (mutation) [HSA:26040] [KO:K23217] CSF3R (mutation) [HSA:1441] [KO:K05061] PTPN11 (mutation) [HSA:5781] [KO:K07293] NF1 (mutation) [HSA:4763] [KO:K08052] SF3B1 (mutation) [HSA:23451] [KO:K12828] SRSF2 (mutation) [HSA:6427] [KO:K12891] U2AF1 (mutation) [HSA:7307] [KO:K12836] ZRSR2 (mutation) [HSA:8233] [KO:K24273] RUNX1 (mutation) [HSA:861] [KO:K08367] CEBPA (mutation) [HSA:1050] [KO:K09055] |
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| H02411 | 慢性骨髄単球性白血病 | Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell disorder associated with peripheral blood monocytosis, with an inherent risk for leukemic transformation. CMML has overlapping ... | がん |
TET2 (mutation) [HSA:54790] [KO:K24309] ASXL1 (mutation) [HSA:171023] [KO:K11471] SRSF2 (mutation) [HSA:6427] [KO:K12891] NRAS (mutation) [HSA:4893] [KO:K07828] KRAS (mutation) [HSA:3845] [KO:K07827] CBL (mutation) [HSA:867] [KO:K04707] RUNX1 (mutation) [HSA:861] [KO:K08367] SF3B1 (mutation) [HSA:23451] [KO:K12828] ZRSR2 (mutation) [HSA:8233] [KO:K24273] U2AF1 (mutation) [HSA:7307] [KO:K12836] DNMT3A (mutation) [HSA:1788] [KO:K17398] EZH2 (mutation) [HSA:2146] [KO:K11430] TP53 (mutation) [HSA:7157] [KO:K04451] NPM1 (mutation) [HSA:4869] [KO:K11276] JAK2 (mutation) [HSA:3717] [KO:K04447] FLT3 (mutation) [HSA:2322] [KO:K05092] |
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| H02412 | 非定型慢性骨髄性白血病 | Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasm (MDS/MPN). It is characterized by leukocytosis, granulocytic dysplasia, and typically poor patient ... | がん |
SETBP1 (mutation) [HSA:26040] [KO:K23217] NRAS (mutation) [HSA:4893] [KO:K07828] KRAS (mutation) [HSA:3845] [KO:K07827] JAK2 (mutation) [HSA:3717] [KO:K04447] CSF3R (mutation) [HSA:1441] [KO:K05061] ASXL1 (mutation) [HSA:171023] [KO:K11471] ETNK1 (mutation) [HSA:55500] [KO:K00894] TET2 (mutation) [HSA:54790] [KO:K24309] SRSF2 (mutation) [HSA:6427] [KO:K12891] EZH2 (mutation) [HSA:2146] [KO:K11430] RUNX1 (mutation) [HSA:861] [KO:K08367] CBL (mutation) [HSA:867] [KO:K04707] FLT3 (mutation) [HSA:2322] [KO:K05092] CEBPA (mutation) [HSA:1050] [KO:K09055] IDH2 (mutation) [HSA:3418] [KO:K00031] |
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| H02413 |
流行性筋痛症 流行性胸痛症 ボルンホルム病 |
Epidemic myalgia, also known as epidemic pleurodynia or Bornholm disease, is an infectious disease caused by group B coxsackieviruses in the genus Enterovirus, the family Picornaviridae of +ssRNA viruses ... | ウイルス感染症 | ||
| H02414 | 自己炎症性疾患・脂肪織炎および皮膚疾患症候群 | Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an auto-inflammatory disease caused by loss-of-function mutations in OTULIN, encoding a deubiquitinase. Patients present with neonatal-onset ... | 免疫系疾患 | OTULIN [HSA:90268] [KO:K18343] | |
| H02415 | 頭蓋顔面異形症・骨格異常・精神遅滞症候群 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR) is an autosomal recessive disease caused by TMCO1 deficiency. The function of TMCO1 is unknown, however, a critical ... | 先天奇形 |
(CFSMR1) TMCO1 [HSA:54499] [KO:K21891] (CFSMR2) RAB5IF [HSA:55969] [KO:K26496] |
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| H02416 | トコジラミ症 | Cimicosis is an ectoparasitosis caused by the bite of bed bugs, belonging to the family Cimicidae. Although the Cimicidae comprises more than 90 species, only two species, Cimex lectularius and C. hemipterus ... | 寄生虫感染症 | ||
| H02417 | 多毛症を伴う歯肉増殖症 | Gingival fibromatosis with hypertrichosis is a rare autosomal recessive congenital generalized hypertrichosis terminalis. It is characterized by hair growth that is excessive for the body size and age ... | 先天奇形 | ABCA5 [HSA:23461] [KO:K05648] | |
| H02418 | 非ホジキンリンパ腫 | Non-Hodgkin lymphoma (NHL) is one of the most common hematologic malignancies worldwide. NHL includes malignant tumors of the lymphoid tissues variously resulting from the clonal growth of B cells, T cells ... | がん |
RAD54L [HSA:8438] [KO:K10875] RAD54B [HSA:25788] [KO:K10877] CASP10 [HSA:843] [KO:K04400] PRF1 [HSA:5551] [KO:K07818] BCL10 [HSA:8915] [KO:K07368] |
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| H02419 | 血清グリシン濃度正常のグリシン脳症 | Glycine encephalopathy [DS:H00191], also known as nonketotic hyperglycinemia (NKH), is characterized by severe neurologic dysfunctions. Recently, some individuals with NKH-like symptoms but lacking the ... | 先天性代謝異常症 | SLC6A9 [HSA:6536] [KO:K05038] | |
| H02420 | 頭頸部癌 | Head and neck cancers are a heterogeneous collection of malignancies of the upper aerodigestive tract, salivary glands and thyroid. The most common type of cancer in the head and neck is squamous cell ... | がん | ||
| H02421 |
固形腫瘍 固形癌 |
Cancers can be classified into two broad types: hematological or solid tumors. There are two main types of solid tumors: carcinomas and sarcomas. Most solid tumors are derived from epithelial cells. Carcinomas ... | がん | ||
| H02422 | 骨格奇形を伴う網膜色素変性 | Retinitis pigmentosa with skeletal anomalies (RPSKA) is a rare autosomal recessive syndrome characterized by retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurological ... | 先天奇形 | CWC27 [HSA:10283] [KO:K12737] | |
| H02423 | ケジラミ症 | Phthiriasis is the result of infestation by Phthirus pubis (crab louse), sucking lice belonging to the family Pthiridae. Phthirus pubis is transmitted mainly by sexual contact, but it also may be transmitted ... | 寄生虫感染症 | ||
| H02424 | 中枢神経系原発悪性リンパ腫 | Primary central nervous system lymphoma (PCNSL) is an extranodal non-Hodgkin lymphoma (NHL) confined to the brain, leptomeninges, eyes, or spinal cord. Most PCNSLs are diffuse large B-cell lymphoma (DLBCL; ... | がん |
MYD88 (mutation) [HSA:4615] [KO:K04729] CD79B (mutation) [HSA:974] [KO:K06507] CARD11 (mutation) [HSA:84433] [KO:K07367] TNFAIP3 (mutation) [HSA:7128] [KO:K11859] HLA-DRB5 (deletion) [HSA:3127] [KO:K06752] CDKN2A (deletion) [HSA:1029] [KO:K06621] |
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| H02425 | エルドハイム・チェスター病 | Erdheim-Chester disease (ECD) is a non-Langerhans-cell form of histiocytosis characterized by infiltration of tissues by foamy histiocytes. Among the more common sites of involvement are the skeleton, ... | がん |
BRAF (mutation) [HSA:673] [KO:K04365] MAP2K1 (mutation) [HSA:5604] [KO:K04368] ARAF (mutation) [HSA:369] [KO:K08845] MAP2K2 (mutation) [HSA:5605] [KO:K04369] KRAS (mutation) [HSA:3845] [KO:K07827] NRAS (mutation) [HSA:4893] [KO:K07828] |
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| H02426 | EDICT 症候群 | EDICT syndrome is an autosomal dominant syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning. It has been reported that a single-base substitution ... | 先天奇形 | MIR184 [HSA:406960] [KO:K17177] | |
| H02427 | 軟部肉腫 | Soft-tissue sarcomas (STS) are a rare and heterogeneous group of tumors with mesenchymal origin, including muscle, endothelium, cartilage. Several common STSs have harbored translocations, which represent ... | がん | ||
| H02428 | トリコスポロン症 | Trichosporonosis is a rare mycosis caused by various species in the Trichosporon genus. The first description of clinical isolates of Trichosporon spp. was in 1867. This yeast-like pathogen may cause deep-seated ... | 真菌感染症 | ||
| H02429 | 日光角化症 | Actinic keratosis (AK) is a common cutaneous lesion associated with chronic exposure to ultraviolet (UV) radiation. AK presents scaly, erythematous papule or plaque and is considered the earliest clinically ... | 皮膚疾患 | ||
| H02430 | 難聴と糖尿病を伴う小脳および末梢性複合運動失調 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive disorder caused by loss-of-function mutations in DNAJC3. It encodes ER protein which ... | 神経系疾患 | DNAJC3 [HSA:5611] [KO:K09523] | |
| H02431 | 小脳低形成、てんかん、および全般的発達遅滞 | Cerebellar hypoplasia, epilepsy, and global developmental delay (CHEGDD) is an early-onset autosomal recessive neurological disease. CHEGDD is characterized by severe global developmental delay, intellectual ... | 先天奇形 | OXR1 [HSA:55074] [KO:K25437] | |
| H02432 | ブチリルコリンエステラーゼ欠損症 | Hereditary Butyrylcholinesterase deficiency (BCHED) results from the mutations of BCHE gene. Butyrylcholinesterase is an ester hydrolase produced mainly by the liver, hydrolyzes certain short-acting neuromuscular ... | 先天性代謝異常症 | BCHE [HSA:590] [KO:K01050] | |
| H02433 | 脳幹および脊髄の障害と下肢痙縮を伴う髄鞘低形成 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is characterized by focal cerebral white matter abnormalities and spinal cord signal abnormalities. HBSL is the result ... | 先天性代謝異常症 | DARS1 [HSA:1615] [KO:K22503] | |
| H02434 | びまん性大細胞型B細胞リンパ腫、非特定 | Diffuse large B-cell lymphoma, not otherwise specified (DLBCL, NOS) is the most common type of DLBCL. DLBCL accounts for 30-40% of all non-Hodgkin lymphomas (NHL), making it the most prevalent form of ... | がん |
EZH2 (mutation) [HSA:2146] [KO:K11430] CREBBP (mutation/deletion) [HSA:1387] [KO:K04498] EP300 (mutation/deletion) [HSA:2033] [KO:K04498] GNA13 (mutation) [HSA:10672] [KO:K04639] GNAI2 (mutation) [HSA:2768] [KO:K04346] TNFRSF14 (mutation) [HSA:8764] [KO:K05152] BCL6 (mutation) [HSA:604] [KO:K15618] MYC (chromosomal translocation) [HSA:4609] [KO:K04377] PTEN (deletion) [HSA:5728] [KO:K01110] BCL2 (chromosomal translocation / mutation) [HSA:596] [KO:K02161] CARD11 (mutation) [HSA:84433] [KO:K07367] CD79A (mutation) [HSA:973] [KO:K06506] CD79B (mutation) [HSA:974] [KO:K06507] TNFAIP3 (mutation/deletion) [HSA:7128] [KO:K11859] MYD88 (mutation) [HSA:4615] [KO:K04729] CDKN2A (deletion) [HSA:1029] [KO:K06621] CDKN2B (deletion) [HSA:1030] [KO:K04685] PRDM1 (mutation/deletion) [HSA:639] [KO:K24501] MLL2 (mutation) [HSA:8085] [KO:K09187] MLL3 (mutation) [HSA:58508] [KO:K09188] B2M (mutation/deletion) [HSA:567] [KO:K08055] CD58 (mutation/deletion) [HSA:965] [KO:K06492] TP53 (mutation) [HSA:7157] [KO:K04451] MEF2B (mutation) [HSA:100271849] [KO:K09261] FOXO1 (mutation) [HSA:2308] [KO:K07201] |
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| H02435 | 難聴-不妊症候群 | Deafness-infertility syndrome (DIS) is an autosomal recessive contiguous gene deletion syndrome characterised by deafness and sperm dysmotility. This syndrome is caused by the deletion of contiguous genes ... | 先天奇形 |
CATSPER2 [HSA:117155] [KO:K16890] STRC [HSA:161497] [KO:K24636] |
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| H02436 | Al-Gazali 症候群 | Al-Gazali syndrome (ALGAZ) is characterized by multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality. Pathogenic variants in B3GALT6 have been reported to cause ... | 先天奇形 | B3GALT6 [HSA:126792] [KO:K00734] |