KEGG MEDICUS 疾患情報

3025 件中 2641 〜 2670 を表示前へ 1 ... 84 85 86 87 88 89 90 91 92 93 94 ... 101 次へ

エントリ	名称	概要	カテゴリ	病因遺伝子
H02648	口腔咽頭粘膜の棘融解性水疱	Acantholytic blistering of the oral and laryngeal mucosa (ABOLM) is a rare disease characterized by recurrent erosions in a tongue and laryngeal mucosa. Skin, conjunctival and genital mucosa, hair, and ...	消化器系疾患	DSG3 [HSA:1830] [KO:K07598]
H02649	常染色体優性遺伝性神経伝導速度遅延	Autosomal dominant slowed nerve conduction velocity (SNCV) is a rare hereditary neuropathy characterized by thin myelination of peripheral nerves. Mutations in ARHGEF10 have been identified. ARHGEF10 encodes ...	神経系疾患	ARHGEF10 [HSA:9639] [KO:K16727]
H02650	Menke-Hennekam 症候群	Menke-Hennekam syndrome (MKHK) is a novel syndrome caused by mutations in CREBBP and EP300. Although mutations in the same genes cause Rubinstein-Taybi syndrome [DS:H00504], MKHK patients didn't show the ...	先天奇形	(MKHK1) CREBBP [HSA:1387] [KO:K04498] (MKHK2) EP300 [HSA:2033] [KO:K04498]
H02651	Lessel-Kreienkamp 症候群	Lessel-Kreienkamp syndrome (LESKRES) is a neurodevelopmental disorder caused by germline mutations in AGO2 that encodes a member of the Argonaute family of proteins. AGO2 and associated miRNAs form the ...	先天奇形	AGO2 [HSA:27161] [KO:K11593]
H02652	知的障害を伴う後天性巨頭症	Macrocephaly, acquired, with impaired intellectual development (MACID) is a novel syndrome characterized by intellectual disability with macrocephaly, motor delay, hypotonia, behavioral abnormalities, ...	先天奇形	NFIB [HSA:4781] [KO:K09169]
H02653	Faundes-Banka 症候群	Faundes-Banka syndrome (FABAS) is rare neurodevelopmental disorder characterized by variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism. Mutations in EIF5A cause this ...	先天奇形	EIF5A [HSA:1984] [KO:K03263]
H02654	Boudin-Mortier 症候群	Boudin-Mortier syndrome is a novel syndrome characterized by tall stature, long digits, and variable connective tissue abnormalities, including aortic dilatation and joint hypermobility. It has been reported ...	先天奇形	NPR3 [HSA:4883] [KO:K12325]
H02655	網膜ジストロフィーおよび微絨毛封入体病	Retinal dystrophy and microvillus inclusion disease (RDMVID) is a novel syndrome characterized by early-onset severe retinal dystrophy and hereditary diarrhea. It has been reported that mutations in the ...	先天奇形	STX3 [HSA:6809] [KO:K08486]
H02656	免疫調節不全を伴うX連鎖性多臓器自己炎症疾患	X-linked multisystem autoinflammatory disease with immune dysregulation (ADMIDX) is a rare inborn disease of hematopoiesis and immunity characterized by severe immune dysregulation and systemic inflammation ...	免疫系疾患	DOCK11 [HSA:139818] [KO:K21853]
H02657	サルコシン血症	Sarcosinemia is an autosomal recessive metabolic trait manifested by relatively high concentrations of sarcosine in blood and urine. Sarcosinemia has a varied phenotypic presentation. In rare cases, it ...	先天性代謝異常症	SARDH [HSA:1757] [KO:K00314]
H02658	X連鎖先天性溶血性貧血	X-linked congenital hemolytic anemia (HACXL) is a recently reported hemolytic anemia caused by mutations in the ATP11C. ATP11C encodes a major flippase in human erythrocytes. Flippase transports phospholipids ...	血液疾患	ATP11C [HSA:286410] [KO:K26934]
H02659	Dentici-Novelli 神経発達症候群	Dentici-Novelli neurodevelopmental syndrome is a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. It has been reported that mutations in ZNF526 ...	先天奇形	ZNF526 [HSA:116115] [KO:K26978]
H02660	肺および皮膚血管炎を伴う自己炎症性疾患	Autoinflammation with pulmonary and cutaneous vasculitis (AIPCV) is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis. It has been reported that AIPCV ...	免疫系疾患	HCK [HSA:3055] [KO:K08893]
H02661	皮下脂肪織炎様T細胞リンパ腫	Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare subtype of peripheral T-cell lymphoma affecting younger patients and associated with hemophagocytic lymphohistiocytosis. Recently, germline ...	がん	HAVCR2 [HSA:84868] [KO:K20414]
H02662	硫化物キノンオキシドレダクターゼ欠損症	Sulfide quinone oxidoreductase deficiency (SQORD) is a neurological disorder like Leigh syndrome [DS:H01354]. It is characterized by coma with lactic acidosis, and lesions in the basal ganglia. It has ...	先天性代謝異常症	SQOR [HSA:58472] [KO:K22470]
H02663	Braddock-Carey 症候群	Braddock-Carey syndrome (BRDCS) is a multiple malformation syndrome characterized by microcephaly, congenital thrombocytopenia, Pierre-Robin sequence, and agenesis of the corpus callosum. The genetic etiology ...	先天奇形	(BRDCS2) KIF15 [HSA:56992] [KO:K10400]
H02664	関節拘縮・骨軟骨腫およびB細胞リンパ腫	Joint contracture, osteochondromas, and B-cell lymphoma (JCOSL) is caused by complete deficiency of nuclear factor of activated T cells 1 (NFAT1). NFAT1 is encoded by NFATC2, and mediates calcium-calcineurin ...	がん	NFATC2 [HSA:4773] [KO:K17332]
H02665	網状肢端色素沈着症（北村）	Reticulate acropigmentation of Kitamura (RAK) is a rare autosomal dominant disorder of cutaneous pigmentation. The typical clinical features are reticulate and sharply demarcated brown macules, affecting ...	皮膚疾患	ADAM10 [HSA:102] [KO:K06704]
H02666	Chilton-Okur-Chung 神経発達症候群	Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) is associated with developmental delay, intellectual disability, autism, hypotonia, and structural brain abnormalities. It has been reported that ...	先天奇形	CDC42BPB [HSA:9578] [KO:K16307]
H02667	武内・小崎症候群	Takenouchi-Kosaki syndrome (TKS) is a recently recognized autosomal dominant disorder caused by mutations in CDC42. TKS is characterized by intellectual disability, macrothrombocytopenia, camptodactyly ...	先天奇形	CDC42 [HSA:998] [KO:K04393]
H02668	Heyn-Sproul-Jackson 症候群	Heyn-Sproul-Jackson syndrome (HESJAS) is characterized by microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. It has been reported that gain-of-function mutations in DNMT3A cause ...	先天奇形	DNMT3A [HSA:1788] [KO:K17398]
H02669	炎症性腸疾患・免疫不全および脳症	Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) is a severe infantile inflammatory bowel disease and central nervous system disease associated with epilepsy, brain atrophy and ...	免疫系疾患	TGFB1 [HSA:7040] [KO:K13375]
H02670	B細胞免疫不全症・周期性発熱および発達遅滞を伴う鉄芽球性貧血	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is a novel congenital sideroblastic anemia and immunodeficiency syndrome with additional features resembling ...	血液疾患	TRNT1 [HSA:51095] [KO:K00974]
H02671	ナトリウム依存性マルチビタミントランスポーター (SMVT) 欠損症	Sodium-dependent multivitamin transporter deficiency (SMVTD) is a recently described inherited metabolic disorder with so far a broad phenotypic spectrum ranging from feeding problems, failure to thrive ...	先天性代謝異常症	SLC5A6 [HSA:8884] [KO:K14386]
H02672	血管炎を伴う全身性自己炎症性疾患	Systemic autoinflammatory disease with vasculitis (SAIDV) is a severe perinatal-onset, systemic inflammation. It has been reported that gain-of-function mutations in LYN associated with this disease. LYN ...	免疫系疾患	LYN [HSA:4067] [KO:K05854]
H02673	頭蓋顔面低形成	Craniofacial microsomia (CFM) also termed hemifacial microsomia, oculo-auricular-vertebral spectrum (OAVS) or Goldenhar syndrome, is a craniofacial developmental disorder of variable expressivity and severity ...	先天奇形	(CFM1) SF3B2 [HSA:10992] [KO:K12829] (CFM2) FOXI3 [HSA:344167] [KO:K09401]
H02674	心房停止心房静止	Atrial standstill (AS, ATRST) is a rare cardiac arrhythmia characterized by transient or persistent absence of electrical and mechanical activity in the atria. On surface electrocardiogram, AS is distinguished ...	循環器系疾患	(ATRST1) GJA5 [HSA:2702] [KO:K07614] (ATRST2) NPPA [HSA:4878] [KO:K12334]
H02675	魚鱗癬・痙縮・ミエリン形成不全および顔異形	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is a rare neurological disorder caused by mutations in ELOVL1. ELOVL1 catalyzes fatty acid elongation to produce very ...	先天奇形	ELOVL1 [HSA:64834] [KO:K10247]
H02676	乳児期発症パーキンソニズム・ジストニア	Infantile-onset parkinsonism-dystonia (PKDYS) is a heterogeneous group of inherited disorders characterized by abnormal movements, including parkinsonism, dystonia, and developmental delay.	神経系疾患	(PKDYS1) SLC6A3 [HSA:6531] [KO:K05036] (PKDYS2) SLC18A2 [HSA:6571] [KO:K08155] (PKDYS3) WARS2 [HSA:10352] [KO:K01867]
H02677	プロジェロイド・ラミノパチー	Laminopathy is a heterogeneous group of inherited disorders resulting from abnormalities of type A lamins. Progeroid laminopathy is a group of the laminopathies that mimics clinical and molecular features ...	先天奇形	LMNA [HSA:4000] [KO:K12641] ZMPSTE24 [HSA:10269] [KO:K06013]

3025 件中 2641 〜 2670 を表示前へ 1 ... 84 85 86 87 88 89 90 91 92 93 94 ... 101 次へ