KEGG MEDICUS 疾患情報

3025 件中 2911 〜 2940 を表示前へ 1 ... 93 94 95 96 97 98 99 100 101 次へ

エントリ	名称	概要	カテゴリ	病因遺伝子
H02918	心筋症、拘縮および脳の異常を伴う神経発達障害	Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) is a novel brain and heart developmental syndrome characterized by dysmorphic features, intellectual disability ...	先天奇形	SHMT2 [HSA:6472] [KO:K00600]
H02919	Bachmann-Bupp 症候群脱毛と脳の異常を伴う神経発達障害	Bachmann-Bupp syndrome (BABS), also known as neurodevelopmental disorder with alopecia and brain abnormalities (NEDABA) is a neurometabolic disorder associated with global developmental delay, ectodermal ...	先天性代謝異常症	ODC1 [HSA:4953] [KO:K01581]
H02920	Keratolytic winter erythema	Keratolytic winter erythema (KWE) is a rare autosomal dominant skin disorder characterized by recurrent episodes of palmoplantar erythema and epidermal peeling. It has been reported that KWE is caused ...	先天奇形	CTSB [HSA:1508] [KO:K01363]
H02921	脂漏性角化症	Seborrheic keratosis is one of the most common benign epidermal tumors that associates with increased age. The lesions manifest clinically as acquired, well-demarcated brownish papules or plaques with ...	新生物	PIK3CA [HSA:5290] [KO:K00922]
H02922	唾液腺多形腺腫	Pleomorphic salivary gland adenoma (PSA) is the most common salivary gland neoplasm. Fusions involving PLAG1 locus were first discovered in pleomorphic adenoma in 1997. PLAG1 gene rearrangement is the ...	新生物	PLAG1 [HSA:5324] [KO:K19484]
H02923	Keratoendotheliitis fugax hereditaria	Keratoendotheliitis fugax hereditaria (KEFH) is an autosomal dominant corneal disease that periodically, and fleetingly, affects the corneal endothelium, stroma, and vision, eventually leading to central ...	神経系疾患	NLRP3 [HSA:114548] [KO:K12800]
H02924	知的障害およびミオパチー症候群	Intellectual disability and myopathy syndrome (IDMYS) is a novel syndrome characterized by mild intellectual disability, a characteristic face, myopathy, and cerebral white matter hyperintensity. It has ...	先天奇形	ABCC9 [HSA:10060] [KO:K05033]
H02925	網膜色素変性・感音性難聴および脱髄性末梢神経障害を伴う小児期早期発症神経変性疾患	Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy (CONDRHN) is a novel autosomal recessive neurodegenerative disease ...	神経系疾患	KLC4 [HSA:89953] [KO:K10407]
H02926	Elsahy-Waters 症候群	Elsahy-Waters syndrome (ESWS) is a rare dysmorphology syndrome characterized by facial asymmetry, broad forehead, marked hypertelorism with proptosis, short and broad nose, midface hypoplasia, intellectual ...	先天奇形	CDH11 [HSA:1009] [KO:K06803]
H02927	DEEAH 症候群	DEEAH syndrome is a novel multisystem disorder characterized by developmental delay, exocrine and endocrine insufficiency, autonomic dysfunction, and haematological anomalies. It has been reported that ...	先天奇形	MADD [HSA:8567] [KO:K26162]
H02928	Ocular pterygium-digital keloid dysplasia syndrome	Ocular pterygium-digital keloid dysplasia syndrome (OPDKD) manifests as corneal vascular overgrowth in early childhood later followed by keloid formation on digits. It has been reported that OPDKD is associated ...	先天奇形	PDGFRB [HSA:5159] [KO:K05089]
H02929	ヘムオキシゲナーゼ1欠損症	Heme oxygenase-1 deficiency (HMOX1D) is a rare autosomal recessive disorder characterized by intravascular haemolysis with peculiarly low bilirubin levels, nephritis, and features of systemic inflammation ...	先天性代謝異常症	HMOX1 [HSA:3162] [KO:K00510]
H02930	一過性新生児チアノーゼ	Transient neonatal cyanosis is a rare inherited fetal hemoglobinopathy caused by mutations in the gamma-globin gene, HBG2. Clinical clues include reduced hemoglobin oxygen saturation without arterial hypoxemia ...	血液疾患	HBG2 [HSA:3048] [KO:K13824]
H02931	骨髄異形成を伴う原発性リンパ浮腫 Emberger 症候群	Primary lymphedema with myelodysplasia, also known as Emberger syndrome, is a rare autosomal dominant disorder characterized by lower limb lymphedema of childhood onset and hematological abnormalities ...	先天奇形	GATA2 [HSA:2624] [KO:K17894]
H02932	舟状頭・上顎後退および知的障害	Scaphocephaly, maxillary retrusion, and impaired intellectual development is an autosomal dominant craniosynostosis syndrome characterised by scaphocephaly, macrocephaly, severe maxillary retrusion, and ...	先天奇形	FGFR2 [HSA:2263] [KO:K05093]
H02933	Delpire-McNeill 症候群	Delpire-McNeill syndrome (DELMNES) is a novel neurodevelopmental disorder with developmental delay or intellectual disability ranging from mild to severe. Some patients have sensorineural deafness. SLC12A2 ...	先天奇形	SLC12A2 [HSA:6558] [KO:K10951]
H02934	Kilquist 症候群	Kilquist syndrome (KILQS) is a novel autosomal recessive syndrome characterized by global developmental delay, sensorineural hearing loss, gastrointestinal abnormalities, and absent salivation. It has ...	先天奇形	SLC12A2 [HSA:6558] [KO:K10951]
H02935	魚鱗癬・痙性四肢麻痺および知的発達障害	Ichthyosis, spastic quadriplegia, and impaired intellectual development (ISQMR) is an autosomal recessive neuro-ichthyotic disease characterized by congenital ichthyosis, seizures, mental retardation, ...	先天奇形	ELOVL4 [HSA:6785] [KO:K10249]
H02936	ホーキンシン尿症	Hawkinsinuria is a rare autosomal dominant disorder of tyrosine metabolism characterized by persistent metabolic acidosis and failure to thrive. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene ...	先天性代謝異常症	HPD [HSA:3242] [KO:K00457]
H02937	子癇前症/子癇	Preeclampsia and eclampsia are hypertensive disorders of pregnancy associated with abnormal placental vascular development. The systemic angiogenic imbalance, endothelial dysfunction and proinflammatory ...	生殖器系疾患	(PEE4) STOX1 [HSA:219736] [KO:K28389] (PEE5) CORIN [HSA:10699] [KO:K09614]
H02938	フェリチン欠乏症	L-ferritin deficiency (LFTD) is a rare genetic hematologic disease characterized by hypoferritinemia. Clinical symptoms include idiopathic generalized seizures and atypical restless legs syndrome. Asymptomatic ...	血液疾患	FTL [HSA:2512] [KO:K13625]
H02939	ローランドてんかん運動誘発性ジストニアおよび書痙	Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC) is an autosomal recessive neurologic disorder. It has been reported that mutations in TBC1D24 cause EPRPDC. It is ...	神経系疾患	TBC1D24 [HSA:57465] [KO:K21841]
H02940	常染色体優性遺伝性小脳失調、難聴及びナルコレプシー	Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is characterized by late onset cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia. It has been reported ...	神経系疾患	DNMT1 [HSA:1786] [KO:K00558]
H02941	軸索性末梢神経障害を伴う(伴わない)多発性対称性脂肪腫症	Multiple symmetric lipomatosis (MSL) is characterized by upper-body lipomatous masses frequently associated with metabolic and neurological signs. MSL with or without axonal peripheral neuropathy is a ...	皮膚疾患	MFN2 [HSA:9927] [KO:K06030]
H02942	悪性黒色腫・星細胞腫症候群	Melanoma-astrocytoma syndrome is a rare autosomal dominant tumor predisposition syndrome characterized by association of cutaneous malignant melanoma and tumors of central nervous system, generally astrocytomas ...	がん	CDKN2A [HSA:1029] [KO:K06621]
H02943	鰓弓異常・後鼻孔閉鎖症・無乳頭・難聴及び甲状腺機能低下症候群	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) is a novel multiple malformations syndrome caused by missense mutations in KMT2D. KMT2D encodes ...	先天奇形	KMT2D [HSA:8085] [KO:K09187]
H02944	遺伝性粘膜上皮形成異常	Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant disease affecting skin, mucosae, hair, eyes, and lungs. Prominent clinical features include non-scarring alopecia, mucosal erythema ...	先天奇形	SREBF1 [HSA:6720] [KO:K07197]
H02945	神経鞘腫	Schwannomatosis (SWN) is a third form of neurofibromatosis and is characterized by the predisposition for developing multiple schwannomas. It is clinically and genetically distinct from neurofibromatosis ...	先天奇形	(SWN1) SMARCB1 [HSA:6598] [KO:K11648] (SWN2) LZTR1 [HSA:8216] [KO:K23330]
H02946	先天性毛細血管奇形	Congenital capillary malformations (CMC), also known as port-wine stains, are common congenital cutaneous capillary malformations. Most CMCs occur sporadically and present as a solitary lesion. CMC may ...	先天奇形	GNAQ [HSA:2776] [KO:K04634]
H02947	Neuroocular syndrome	Neuroocular syndrome (NOC) is a novel syndrome with a wide clinical spectrum marked chiefly by neurodevelopmental and eye abnormalities. It has been reported that mutations in PRR12 cause this syndrome ...	先天奇形	(NOC1) PRR12 [HSA:57479] [KO:K28428] (NOC2) DAGLA [HSA:747] [KO:K13806]

3025 件中 2911 〜 2940 を表示前へ 1 ... 93 94 95 96 97 98 99 100 101 次へ