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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| H01475 |
脂肪萎縮症 リポジストロフィー 脂肪異栄養症 |
Lipodystrophies are a group of rare disorders characterized by selectively loss of fat tissue, which can be congential or acquired, and generalized or partial. People with the diseases more frequently ... | 先天性代謝異常症 | ||
| H01476 | ベーチェット病 | Behcet disease is a multisystemic inflammatory disease characterized by relapsing episodes of oral aphthous ulcers, genital ulcers, other skin lesions, and uveitis. It can also involve visceral organs ... | 免疫系疾患; 皮膚疾患 | ||
| H01477 | 先天性短腸症候群 | Congenital short bowel syndrome (CSBS) is an inherited intestinal disorder occurring in newborns and infants. Affected babies typically present a shortened bowel (approximately 50 cm) compared with normal ... | 先天奇形 | CLMP [HSA:79827] [KO:K06789] | |
| H01478 | マチャドジョセフ病 | Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is one of the most common hereditary ataxias and is distributed worldwide. MJD is an autosomal dominant neurodegenerative ... | 神経変性疾患 | ATXN3 (CAG repeat expansion) [HSA:4287] [KO:K11863] | |
| H01479 | キャッスルマン病 | Castleman disease is a rare lymphoproliferative disorder with two primary subtypes that vary in presentation and course. Unicentric Castleman disease is localized and carries an excellent prognosis. Multicentric ... | 免疫系疾患 | IL6 [HSA:3569] [KO:K05405] | |
| H01480 | 特発性黄斑円孔 | Idiopathic macular hole is a common cause of visual impairment in people in their sixth decade or older, with a higher prevalence in females. Although existing theories of macular hole pathogenesis are ... | 神経系疾患 | ||
| H01481 | 骨髄異形成症候群 | Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, and a risk of progression to ... | 血液疾患 |
TET2 [HSA:54790] [KO:K24309] ASXL1 [HSA:171023] [KO:K11471] GATA2 [HSA:2624] [KO:K17894] SF3B1 [HSA:23451] [KO:K12828] GNB1 [HSA:2782] [KO:K04536] |
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| H01482 | 乳児血管腫 | Infantile hemangiomas (IH) are neoplastic proliferations of vascular endothelial cells (ECs), characterized by a period of growth after birth, and eventual spontaneous involution. Forty percent of the ... | 新生物 |
ANTXR1 [HSA:84168] [KO:K20909] KDR [HSA:3791] [KO:K05098] FLT4 [HSA:2324] [KO:K05097] |
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| H01483 | 先端巨大症 | Acromegaly (ACM) is a disorder characterized by increased circulating GH and IGF-I (a GH-induced liver protein) levels that is associated with significant morbidity and excess mortality. Patients with ... | 内分泌代謝疾患 |
AIP [HSA:9049] [KO:K17767] GNAS [HSA:2778] [KO:K04632] GPR101 [HSA:83550] [KO:K08423] |
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| H01484 | 5q- 症候群 | 5q- syndrome is a subtype of myelodysplastic syndrome (MDS) characterized by bone marrow erythroid hyperplasia, atypical megakaryocytes, thrombocythemia, refractory anemia, and low risk of progression ... | 血液疾患 | RPS14 [HSA:6208] [KO:K02955] | |
| H01485 | 常染色体劣性遺伝性精神遅滞 -42 | Autosomal recessive mental retardation-42 (MRT42) is a neurodevelopmental disorder. Clinic features are variable and include neonatal hypotonia, severe intellectual disability, and major and absence epilepsy ... | 先天性代謝異常症 | PGAP1 [HSA:80055] [KO:K05294] | |
| H01486 | 多発先天奇形-筋緊張低下-てんかん発作症候群 | The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome (MCAHS) comprises three phenotypes caused by mutations in PIGN, PIGA and PIGT respectively. PIGN and PIGT mutations lead to autosomal recessive ... | 先天性代謝異常症 |
(MCAHS1) PIGN [HSA:23556] [KO:K05285] (MCAHS2) PIGA [HSA:5277] [KO:K03857] (MCAHS3) PIGT [HSA:51604] [KO:K05292] (MCAHS4) PIGQ [HSA:9091] [KO:K03860] |
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| H01487 |
CHIME 症候群 コロボーマ-先天性心奇形-魚鱗癬型皮膚症-精神遅滞-耳介奇形症候群 Zunich 神経外胚葉症候群 |
CHIME syndrome (coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome), also known as Zunich neuroectodermal syndrome, is an autosomal recessive disorder ... | 先天性代謝異常症 | PIGL [HSA:9487] [KO:K03434] | |
| H01488 |
高ホスファターゼ症-精神遅滞症候群 Marby 症候群 |
Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is an autosomal recessive disorder comprising intellectual disability and elevated levels of serum alkaline phosphatase ... | 先天性代謝異常症 |
(HPMRS1) PIGV [HSA:55650] [KO:K07542] (HPMRS2) PIGO [HSA:84720] [KO:K05288] (HPMRS3) PGAP2 [HSA:27315] [KO:K23552] (HPMRS4) PGAP3 [HSA:93210] [KO:K23553] (HPMRS5) PIGW [HSA:284098] [KO:K05283] (HPMRS6) PIGY [HSA:84992] [KO:K11001] |
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| H01489 |
先天性グリコシルホスファチジルイノシトール (GPI) 欠損症 GPI 生合成欠損症 |
Inherited glycosylphosphatidylinositol biosynthesis deficiency (GPIBD) is a group of glycosylation disorders, which result from mutation in genes involved in the biosynthesis of GPI anchors. Mutations ... | 先天性代謝異常症 |
(GPIBD1) PIGM [HSA:93183] [KO:K05284] (GPIBD2) PIGV [HSA:55650] [KO:K07542] (GPIBD3) PIGN [HSA:23556] [KO:K05285] (GPIBD4) PIGA [HSA:5277] [KO:K03857] (GPIBD5) PIGL [HSA:9487] [KO:K03434] (GPIBD6) PIGO [HSA:84720] [KO:K05288] (GPIBD7) PIGT [HSA:51604] [KO:K05292] (GPIBD8) PGAP2 [HSA:27315] [KO:K23552] (GPIBD9) PGAP1 [HSA:80055] [KO:K05294] (GPIBD10) PGAP3 [HSA:93210] [KO:K23553] (GPIBD11) PIGW [HSA:284098] [KO:K05283] (GPIBD12) PIGY [HSA:84992] [KO:K11001] (GPIBD13) PIGG [HSA:54872] [KO:K05310] (GPIBD14) PIGP [HSA:51227] [KO:K03861] (GPIBD15) GPAA1 [HSA:8733] [KO:K05289] (GPIBD16) PIGC [HSA:5279] [KO:K03859] (GPIBD17) PIGH [HSA:5283] [KO:K03858] (GPIBD18) PIGS [HSA:94005] [KO:K05291] (GPIBD19) PIGQ [HSA:9091] [KO:K03860] (GPIBD20) PIGB [HSA:9488] [KO:K05286] (GPIBD21) PIGU [HSA:128869] [KO:K05293] (GPIBD22) PIGK [HSA:10026] [KO:K05290] (GPIBD25) C18orf32 [HSA:497661] [KO:K28352] |
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| H01490 | 多発性硬化症 | Multiple Sclerosis (MS) is a chronic disease of the central nervous system (CNS) characterized by inflammation, demyelination and axonal loss. This disease typically strikes young adults, especially women ... | 免疫系疾患 |
(MS) PDCD1 [HSA:5133] [KO:K06744] (MS) HLA-DRB1 [HSA:3123] [KO:K06752] (MS) HLA-DQB1 [HSA:3119] [KO:K06752] (MS5) TNFRSF1A [HSA:7132] [KO:K03158] |
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| H01491 |
視神経脊髄炎 デビック病 |
Neuromyelitis optica (NMO), also known as Devic's disease is an inflammatory demyelinating disease that selectively affects optic nerves and spinal cord. The etiology of NMO is unknown but it is believed ... | 免疫系疾患 | ||
| H01492 | 全身性強皮症 | 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 ... | 免疫系疾患; 皮膚疾患 | ||
| H01493 |
限局性強皮症 モルフィア |
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 ... | 免疫系疾患; 皮膚疾患 | (DPMC) STAT4 [HSA:6775] [KO:K11222] | |
| H01494 | 脊椎骨端骨幹端異形成-関節弛緩 | Spondyloepimetaphyseal dysplasia with joint laxity type (SEMD-JL) is an autosomal recessive skeletal dysplasia that consists of type 1 (SEMDJL1, SEMD-JL Beighton type) and type 2 (SEMDJL2, SEMD-leptodactylic ... | 先天奇形 |
(SEMDJL1) B3GALT6 [HSA:126792] [KO:K00734] (SEMDJL2) KIF22 [HSA:3835] [KO:K10403] (SEMDJL3) EXOC6B [HSA:23233] [KO:K19985] |
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| H01495 | メニエール病 | Meniere disease is an inner ear disorder characterized by episodic vertigo attacks, sensorineural hearing loss, tinnitus, and aural fullness. Prevailing theories on its pathogenesis point to endolymphatic ... | 神経系疾患 | ||
| H01496 | 椎体眼症候群 | Spondyloocular syndrome (SOS) is a rare autosomal recessive disorder due to mutations in the XYLT2 gene. XYLT2 encodes one of the xylosyltransferases involved in proteoglycan biosynthesis. The affected ... | 先天奇形 | XYLT2 [HSA:64132] [KO:K00771] | |
| H01497 | 軸前性短指症候群 | Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder that is caused by the mutations in the CHSY1 gene. CHSY1 encodes chondroitin synthase 1 involving in the biosynthesis ... | 先天奇形 | CHSY1 [HSA:22856] [KO:K13499] | |
| H01498 |
多発性関節脱臼-低身長-頭蓋顔面形態異常-先天性心奇形 Larsen 様症候群 |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD), also termed Larsen-like syndrome, is an autosomal recessive disease that is caused by the mutations ... | 先天性代謝異常症 | B3GAT3 [HSA:26229] [KO:K10158] | |
| H01499 | スポロトリコーシス | Sporotrichosis is an endemic mycosis in tropical and subtropical areas caused by Sporothrix schenckii which is a common saprophyte of soil, decaying wood, hay and sphagnum moss. S. schenckii usually causes ... | 真菌感染症 | ||
| H01500 | ループス腎炎 | Lupus nephritis is a severe organ manifestation of systemic lupus erythematosus (SLE) that can affect up to 70% of the SLE population. In childhood SLE, nephritis is present in up to 90% of the cases. ... | 免疫系疾患 | ||
| H01501 | ブラストミセス症 | Blastomycosis is a fungal infection caused by the organism Blastomyces dermatitidis, which is a dimorphic fungus that grows as a filamentous mold in the environment and as budding yeast in human tissue ... | 真菌感染症 | ||
| H01502 | シェーグレン症候群 | Sjogren Syndrome (SS) is a chronic inflammatory systemic autoimmune disease characterized by lymphocytic infiltration of the exocrine glands leading to sicca symptoms of the eyes and mouth. Several systemic ... | 免疫系疾患 | ||
| H01503 | 接合菌症 | The class Zygomycetes is divided into two orders, Mucorales and Entomophthorales. These two orders produce different infections. Genera from the order Mucorales cause an angioinvasive infection called ... | 真菌感染症 | ||
| H01504 |
フォークト・小柳・原田病 ぶどう膜髄膜脳炎症候群 |
Vogt-Koyanagi-Harada syndrome (VKHS), initially described as an uveomeningoencephalitic syndrome, is a rare systemic autoimmune disease that targets melanocyte-rich tissues, such as the eye, inner ear ... | 免疫系疾患; 神経系疾患 |
HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DRB4 [HSA:3126] [KO:K06752] |