KEGG MEDICUS 疾患情報 |
Top |
| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
|---|---|---|---|---|---|
| H01837 |
先天性核上性球麻痺 ウースター・ドロート症候群 |
Congenital suprabulbar paresis (Worster- Drought syndrome) is a permanent movement disorder of the bulbar muscles causing persistent difficulties with swallowing, feeding, speech, and saliva control owing ... | 神経系疾患 | ||
| H01838 |
小頭症を伴う下顎顔面異形成症 Guion-Almeida 型下顎顔面骨形成不全症 |
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant congenital anomaly syndrome. Affected patients have been primarily described as presenting with microcephaly, midface hypoplasia ... | 先天奇形 | EFTUD2 [HSA:9343] [KO:K12852] | |
| H01839 | Burn-McKeown 症候群 | Burn-McKeown syndrome (BMKS) is a rare autosomal-recessive malformative craniofacial disorder characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphisms ... | 先天奇形 | TXNL4A [HSA:10907] [KO:K12859] | |
| H01840 | メビウス症候群 | Moebius syndrome (MBS) is a complex, rare developmental anomaly of the hindbrain, that has been described as the combination of congenital palsies of the facial and abducens cranial nerves. Other cranial ... | 先天奇形 | ||
| H01841 | 痙攣重積型 (二相性) 急性脳症 | Acute encephalopathy with biphasic seizures and reduced diffusion (AESD) is a syndrome of encephalopathy characterized by biphasic seizures. The etiology of AESD has been attributed to viral infection ... | 神経系疾患 | ||
| H01842 | ビッカースタッフ脳幹脳炎 | Bickerstaff's brainstem encephalitis (BBE) is a rare immune disorder in children, characterized by progressive ophthalmoplegia, ataxia, and disturbance of consciousness. Although the etiology of BBE is ... | 免疫系疾患; 神経系疾患 | ||
| H01843 | 脳・肋骨・下顎症候群 | Cerebrocostomandibular syndrome (CCMS) is a rare autosomal dominant multiple malformation disorder characterized by posterior rib gaps and Pierre Robin sequence (micrognathia, glossoptosis, and cleft palate) ... | 先天奇形 | SNRPB [HSA:6628] [KO:K11086] | |
| H01844 | 透明脊椎異骨症 | Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorder. It is one of a number of spinal dysostoses, which are a heterogeneous group of axial skeletal malformations ... | 先天奇形 | BMPER [HSA:168667] [KO:K24517] | |
| H01845 | Catel-Manzke 症候群 | Catel-Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing clinodactyly of the index finger. Pierre Robin sequence ... | 先天奇形 | TGDS [HSA:23483] [KO:K01710] | |
| H01846 | 脳表ヘモジデリン沈着症 | Superficial siderosis is a rare condition caused by hemosiderin deposits in the central nervous system (CNS). Classical type of superficial siderosis primarily affects the infratentorial regions and spinal ... | 神経系疾患 | ||
| H01847 | 血小板減少-橈骨欠損症候群 | Thrombocytopenia-absent radius (TAR) syndrome is a rare autosomal recessive syndrome characterized by severe thrombocytopenia and bilateral defects in development of the radii at birth but with preservation ... | 先天奇形 | RBM8A [HSA:9939] [KO:K12876] | |
| H01848 | 特発性後天性全身性無汗症 | Acquired idiopathic generalized anhidrosis (AIGA) is a rare condition, characterized by generalized absence of sweating without other autonomic and neurologic dysfunction. Most of the cases reported are ... | 皮膚疾患 | ||
| H01849 |
末梢性動静脈奇形 巨大動静脈奇形 (頚部顔面又は四肢病変) |
Arteriovenous malformation (AVM) is a congenital vascular malformation with direct communication from arteries to veins (arteriovenous shunting) and lack of a normal capillary network. The behavior of ... | 先天奇形 | ||
| H01850 | Hartsfield 症候群 | Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. HPE and ectrodactyly can occur ... | 先天奇形 | FGFR1 [HSA:2260] [KO:K04362] | |
| H01851 | 肋骨異常を伴う先天性側弯症 | Congenital scoliosis is a lateral curvature of the spine that is due to the presence of vertebral anomalies causing an imbalance in the longitudinal growth of the spine. Most congenital scoliosis is often ... | 先天奇形 | ||
| H01852 | 軸後性多指症 | Postaxial polydactyly (PAP) is one of the commonest congenital malformations. Both isolated and syndromic forms of PAP have been reported. PAP is characterized by duplication of the fifth finger/toe on ... | 先天奇形 |
(PAPA1,PAPB) GLI3 [HSA:2737] [KO:K06230] (PAPA6) ZNF141 [HSA:7700] [KO:K09228] (PAPA7) IQCE [HSA:23288] [KO:K24677] (PAPA8) GLI1 [HSA:2735] [KO:K16797] (PAPA9) FAM92A [HSA:137392] [KO:K23868] (PAPA10) C5orf36 [HSA:285600] [KO:K24554] |
|
| H01853 | 非特異性多発性小腸潰瘍症 | Chronic nonspecific multiple ulcers of the small intestine (CNSU) are characterized by multiple thin ulcers and concentric stenosis. CNSU predominantly occurs in females and the symptoms, such as general ... | 消化器系疾患 | SLCO2A1 [HSA:6578] [KO:K14345] | |
| H01854 | 第 4-5 中手骨癒合症 | Metacarpal 4-5 fusion (MF4) is a rare congenital malformation of the hands characterised by the partial or complete fusion of the fourth and fifth metacarpal bones. The anomaly manifests clinically as ... | 先天奇形 | FGF16 [HSA:8823] [KO:K04358] | |
| H01855 | 胆道閉鎖症 | Biliary atresia (BA) is a congenital, fibro-obliterative obstructive cholangiopathy. It can be a devastating disease in infants invariably leading, if untreated, to cirrhosis, liver failure and death. ... | 先天奇形 | ||
| H01856 |
総排泄腔外反症 膀胱腸裂 |
Cloacal exstrophy is an extremely rare congenital complex deformity that is associated with anterior abdominal wall defects, reflex and exposure of the cloaca (uninterrupted ureter and bowel), aproctia ... | 先天奇形 | ||
| H01857 | Filippi 症候群 | Filippi syndrome is a rare autosomal-recessive disorder characterized by mild to severe mental retardation, syndactyly of the fingers and toes, microcephaly, pre and postnatal growth retardation, and unusual ... | 先天奇形 | CKAP2L [HSA:150468] [KO:K16769] | |
| H01858 | 総排泄腔遺残 | Persistent cloaca is an uncommon congenital anomaly in which there is a single perineal opening for the urinary, gastrointestinal, and reproductive tracts. It is the most severe form of anorectal malformation ... | 先天奇形 | ||
| H01859 | オクシピタル・ホーン症候群 | Occipital horn syndrome (OHS), formerly known as Ehlers-Danlos syndrome type IX or X-linked cutis laxa, is a mildest form of Menkes disease (MD). MD and OHS are X-linked recessive disorders of impaired ... | 先天奇形 | ATP7A [HSA:538] [KO:K17686] | |
| H01860 | 下垂体性ゴナドトロピン分泌異常症 | There are two pituitary gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Their general biological roles are the stimulation of testicular and ovarian functions via the regulation ... | 内分泌代謝疾患 | ||
| H01861 |
15q24 微細欠失症候群 Witteveen-Kolk 症候群 |
Chromosome 15q24 microdeletion syndrome is a rare microdeletion syndrome characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior ... | 染色体異常 | SIN3A [HSA:25942] [KO:K11644] | |
| H01862 | 副甲状腺機能低下症 | Hypoparathyroidism is characterized by hypocalcemia and hyperphosphatemia resulting from insufficient or defective parathyroid hormone (PTH) action. PTH is a key calcium regulating hormone essential for ... | 内分泌代謝疾患 |
(FIH1) PTH [HSA:5741] [KO:K05261] (FIH2) GCM2 [HSA:9247] [KO:K21598] |
|
| H01863 | アトピー性脊髄炎 | Atopic myelitis, also described as idiopathic eosinophilic myelitis, is a rare disease that consists of localised and persistent inflammation of the spinal cord. It has been reported predominantly in Japan ... | 免疫系疾患 | ||
| H01864 | 下垂体性成長ホルモン分泌亢進症 | Excessive secretion of growth hormone (GH) causes acromegaly [DS:H01483] and pituitary gigantism [DS:H01618]. They have the same pathogenetic mechanism, but differ regarding the age of onset. Gigantism ... | 内分泌代謝疾患 |
AIP [HSA:9049] [KO:K17767] GPR101 [HSA:83550] [KO:K08423] |
|
| H01865 | 多中心性手根足根骨溶解症症候群 | Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal dysplasia characterized by progressive bone resorption (osteolysis), predominantly (although not exclusively) of the carpal and tarsal ... | 筋骨格疾患 | MAFB [HSA:9935] [KO:K09036] | |
| H01866 |
肺静脈閉塞症 肺毛細血管腫症 |
Pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) are rare diseases that are classified as a subgroup of pulmonary arterial hypertension (PAH). PVOD is histologically ... | 循環器系疾患 |
(PVOD1) BMPR2 [HSA:659] [KO:K04671] (PVOD2) EIF2AK4 [HSA:440275] [KO:K16196] |