KEGG MEDICUS 疾患情報

3025 件中 2581 〜 2610 を表示前へ 1 ... 82 83 84 85 86 87 88 89 90 91 92 ... 101 次へ

エントリ	名称	概要	カテゴリ	病因遺伝子
H02588	関節炎および角化異常症を伴う NLRP1 関連自己炎症	NLRP1-associated autoinflammation with arthritis and dyskeratosis (NAIAD) is an autoinflammatory disease characterized by recurrent fever, arthritis, dyskeratosis, and slight autoimmunity. It has been ...	免疫系疾患	NLRP1 [HSA:22861] [KO:K12798]
H02589	周期性発熱-免疫不全-血小板減少症候群	Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) is an autosomal recessive immunologic disorder caused by mutations in actin-regulatory gene WDR1. WDR1 is a WD40 repeat protein that ...	免疫系疾患	WDR1 [HSA:9948] [KO:K24736]
H02590	急性熱性好中球性皮膚症	Acute febrile neutrophilic dermatosis (AFND), also referred to as pyrin-associated autoinflammatory disease (PAAND), is an autosomal dominant autoinflammatory disorder characterized by fever and arthritis ...	免疫系疾患	MEFV [HSA:4210] [KO:K12803]
H02591	インターロイキン-18 結合タンパク質欠損症	Interleukin-18 binding protein deficiency is caused by inborn errors in IL18BP, which encodes IL-18 binding protein (IL-18BP), resulting in fulminant viral hepatitis (FVH) by unleashing IL-18. IL-18BP ...	免疫系疾患	IL18BP [HSA:10068] [KO:K25565]
H02592	家族性ベーチェット病様自己炎症性症候群	Familial Behcet-like autoinflammatory syndrome (AIFBL) is an autosomal dominant monogenic autoinflammatory disease characterized by early-onset systemic inflammation, arthralgia/arthritis, oral/genital ...	免疫系疾患	(AIFBL1) TNFAIP3 [HSA:7128] [KO:K11859] (AIFBL2) ELF4 [HSA:2000] [KO:K09428]
H02593	慢性粘膜皮膚潰瘍	Chronic mucocutaneous ulceration (CMCU) is characterized by oral and gastrointestinal ulcerations, cytopenias, and lymphoproliferative disease. It has been reported that a heterozygous mutation in RELA ...	免疫系疾患	RELA [HSA:5970] [KO:K04735]
H02594	眼瞼下垂症と口蓋帆咽頭機能障害を伴う先天性顔面神経麻痺	Congenital facial palsy with ptosis and velopharyngeal dysfunction (FPVEPD) is an autosomal dominant disorder caused by mutations in TUBB6, a gene encoding a class V tubulin. Tubulins form microtubules ...	神経系疾患	TUBB6 [HSA:84617] [KO:K07375]
H02595	眼骨格歯症候群	Oculoskeletodental syndrome is a novel syndromic disorder involving neurological, visual, skeletal, growth, and occasionally hearing impairments. It has been reported that loss-of-function mutations in ...	先天奇形	PIK3C2A [HSA:5286] [KO:K00923]
H02596	カルニチン回路異常症	Carnitine plays an essential role in the transfer of long-chain fatty acids across the inner mitochondrial membrane. Disorders of carnitine transport and the carnitine cycle are congenital defects of enzymes ...	先天性代謝異常症	CPT1A [HSA:1374] [KO:K08765] CPT2 [HSA:1376] [KO:K08766] SLC25A20 [HSA:788] [KO:K15109] SLC22A5 [HSA:6584] [KO:K08202]
H02597	セピアプテリン還元酵素 (SR) 欠損症	Sepiapterin reductase deficiency is a very rare autosomal recessive disease resulting in monoamine neurotransmitter depletion. Patients exhibit progressive psychomotor retardation, dystonia, dopamine and ...	先天性代謝異常症	SPR [HSA:6697] [KO:K00072]
H02598	進行性白質脳症	Progressive leukoencephalopathy is a group of inherited disorders of cerebral white matter, characterized by neurologic deterioration consisting of ataxia, spasticity, and cognitive decline. It includes ...	神経系疾患
H02599	遺伝性自己炎症疾患	Inherited autoinflammatory diseases encompass a distinct and growing clinical entity of multisystem inflammatory diseases with known genetic defects in the innate immune system. NLRC4 inflammasomopathy ...	免疫系疾患
H02600	先天性気管狭窄症	Congenital tracheal stenosis (CTS) is a rare but potentially life-threatening disorder that often leads to severe respiratory insufficiency, particularly in neonates and infants. CTS is characterized by ...	先天奇形
H02601	左肺動脈右肺動脈起始症肺動脈スリング	Pulmonary arterial sling (PAS) is a relatively rare congenital anomaly in which left pulmonary artery branch originates abnormally from the right pulmonary artery, eventually resulting with respiratory ...	先天奇形
H02602	先天性三尖弁狭窄症	Congenital tricuspid valve stenosis is a rare congenital malformation characterized by narrowing of the tricuspid valve, which may restrict blood flow from the right atrium to the right ventricle. Congenital ...	先天奇形
H02603	先天性僧帽弁狭窄症	Congenital mitral stenosis (MS) is a spectrum of defects that result in functional and anatomic obstruction of inflow into the left ventricle. Congenital MS classically has been divided into 4 anatomic ...	先天奇形
H02604	1q 部分重複症候群	Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants are associated with highly variable phenotypes. Individuals with 1q21.1 deletions or duplications exhibit ...	染色体異常
H02605	先天性肺静脈狭窄症	Congenital pulmonary venous stenosis is a rare condition with fibromyxoid intimal proliferation leading to obstruction of the large pulmonary veins and of blood flow from the lungs to the left atrium. ...	先天奇形
H02606	てんかん発作を伴う (伴わない) 厚脳回・小脳症・発達遅滞および顔異形症	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures (PAMDDFS) is an autosomal recessive neuronal migration disorder. It has been reported that PAMDDFS is caused ...	先天奇形	TUBGCP2 [HSA:10844] [KO:K16569]
H02607	性器異常を伴う低身長および小頭症	Short stature and microcephaly with genital anomalies (SSMGA) is a new autosomal recessive syndrome of severe growth failure. It has been reported that mutations in CENPT cause this syndrome. CENPT is ...	先天奇形	CENPT [HSA:80152] [KO:K11512]
H02608	自己炎症-汎血球減少症候群	Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis, liver fibrosis ...	免疫系疾患	DNASE2 [HSA:1777] [KO:K01158]
H02609	頭蓋骨幹異形成	Craniodiaphyseal dysplasia (CDD) is an autosomal dominant sclerotic bone disorder characterized by distinctive facial dysmorphism-prominent zygomatic bones, broadening of the center of the face, hypertelorism ...	筋骨格疾患	SOST [HSA:50964] [KO:K16834]
H02610	頭頸部扁平上皮癌	Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer in the world, affecting the pharynx, larynx and oral cavity. It is well known that smoking and alcohol abuse are major risk ...	がん	TNFRSF10B [HSA:8795] [KO:K04722] ING1 [HSA:3621] [KO:K19197]
H02611	Turnpenny-Fry 症候群	Turnpenny-Fry syndrome (TPFS) is an extremely rare disease characterized by intellectual disability, developmental delay, facial dysmorphism, and skeletal abnormalities. It has been reported that mutations ...	先天奇形	PCGF2 [HSA:7703] [KO:K11460]
H02612	Radio-Tartaglia 症候群	Radio-Tartaglia syndrome (RATARS) is a syndromic neurodevelopmental disorder characterized by intellectual disability, hypotonia, behavior abnormalities, multiple congenital anomalies, and facial dysmorphisms ...	先天奇形	SPEN [HSA:23013] [KO:K25100]
H02613	Brunet-Wagner 神経発達症候群	Brunet-Wagner neurodevelopmental syndrome (BRUWAG) is a severe autosomal recessive disorder with infantile hypotonia, severe developmental delay, and microcephaly. It has been reported that bi-allelic ...	先天奇形	RBL2 [HSA:5934] [KO:K16332]
H02614	Snijders Blok-Campeau 症候群	Snijders Blok-Campeau syndrome (SNIBCPS) is a neurodevelopmental syndrome characterized by intellectual disability, developmental delays, macrocephaly, impaired speech and language skills, and characteristic ...	先天奇形	CHD3 [HSA:1107] [KO:K11642]
H02615	Parenti-Mignot 神経発達症候群	Parenti-Mignot neurodevelopmental syndrome (PMNDS) is a neurodevelopmental syndrome characterized by intellectual disability, speech delay, motor delay, behavioral problems, and epilepsy. It has been reported ...	先天奇形	CHD5 [HSA:26038] [KO:K14435]
H02616	巨頭症を伴う神経発達障害	Neurodevelopmental disorder with macrocephaly is a heterogeneous group of diseases. It has been reported that pathogenic variants in CHD3, CHD4, and GATAD2B are associated with this disease. They are components ...	先天奇形	(SNIBCPS) CHD3 [HSA:1107] [KO:K11642] (SIHIWES) CHD4 [HSA:1108] [KO:K11643] (GAND) GATAD2B [HSA:57459] [KO:K23194] (MNDLFH) ZBTB7A [HSA:51341] [KO:K10494]
H02617	Bryant-Li-Bhoj 神経発達症候群	Bryant-Li-Bhoj neurodevelopmental syndrome (BRYLIB) is characterized by global developmental delay, short stature, failure to thrive, dysmorphic facial features, structural brain abnormalities, hypotonia ...	先天奇形	(BRYLIB1) H3-3A [HSA:3020] [KO:K11253] (BRYLIB2) H3-3B [HSA:3021] [KO:K11253]

3025 件中 2581 〜 2610 を表示前へ 1 ... 82 83 84 85 86 87 88 89 90 91 92 ... 101 次へ