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 |
|---|---|---|---|---|---|
| H00903 | 先天内反足 | Congenital clubfoot is an idiopathic deformity of the lower limb that consists of malalignment of the bones and joints of the foot and ankle. It is defined as a fixation of the foot in a hand-like orientation ... | 先天奇形 | PITX1 [HSA:5307] [KO:K09356] | |
| H00904 | Urban-Rifkin-Davis 症候群 | Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities or Urban-Rifkin-Davis syndrome is a disorder affecting pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial ... | 先天奇形 | LTBP4 [HSA:8425] [KO:K08023] | |
| H00905 | イミノグリシン尿症 | Iminoglycinuria is a benign condition characterized by the excretion of proline, hydroxyproline, and glycine in the urine. The disorder is of autosomal recessive inheritance and is genetically complex ... | 先天性代謝異常症 |
SLC36A2 [HSA:153201] [KO:K14209] SLC6A19 [HSA:340024] [KO:K05334] SLC6A20 [HSA:54716] [KO:K05048] |
|
| H00906 | MACS 症候群 | Macrocephaly, alopecia, cutis laxa, and scoliosis is an autosomal-recessive disorder related to the cutis laxa group of inherited disorders associated with macrocephaly, sparse hair, redundant skin, hyperlaxity ... | 先天奇形 | RIN2 [HSA:54453] [KO:K23687] | |
| H00907 |
9q34欠失症候群 Kleefstra 症候群 9qサブテロメリア欠失症候群 |
Kleefstra syndrome (KLEFS), also known as the 9q subtelomeric deletion syndrome is characterized by intellectual disability, childhood hypotonia, and distinctive facial features. About 75% of Kleefstra ... | 先天奇形 |
(KLEFS1) EHMT1 [HSA:79813] [KO:K11420] (KLEFS2) KMT2C [HSA:58508] [KO:K09188] |
|
| H00908 | モワットウィルソン症候群 | Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung ... | 先天奇形 | ZEB2 [HSA:9839] [KO:K23560] | |
| H00909 | 舌小体短縮症を伴う口蓋裂 | Cleft palate with ankyloglossia is an X-linked semi-dominant craniofacial disorder caused by mutations in the TBX22 transcription factor. It affects male patients and approximately one third of female ... | 先天奇形 | TBX22 [HSA:50945] [KO:K10186] | |
| H00910 | ヒルシュスプルング病 | Hirschsprung disease (HSCR) is a relatively common cause of intestinal obstruction in the newborn. It is characterized by absence of ganglion cells in the distal bowel and extending proximally for varying ... | 先天奇形 |
(HSCR1) RET [HSA:5979] [KO:K05126] (HSCR2) EDNRB [HSA:1910] [KO:K04198] (HSCR3) GDNF [HSA:2668] [KO:K05452] (HSCR4) EDN3 [HSA:1908] [KO:K05227] (HCAD) ECE1 [HSA:1889] [KO:K01415] |
|
| H00911 | Dicarboxylic aminoaciduria | Dicarboxylic aminoaciduria (DA) is an autosomal recessive disorder characterized by a striking excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino ... | 先天性代謝異常症 | SLC1A1 [HSA:6505] [KO:K05612] | |
| H00912 | TNF受容体関連周期性症候群 | The tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a multisystem auto-inflammatory disorder that is inherited in an autosomal dominant manner. It is characterized by recurrent febrile ... | 免疫系疾患 | TNFRSF1A [HSA:7132] [KO:K03158] | |
| H00913 |
Brain-lung-thyroid 症候群 Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
Choreoathetosis, hypothyroidism, and neonatal respiratory distress is a syndrome of congenital hypothyroidism associated with pulmonary problems, mental retardation, muscular hypotonia and persistent ataxia ... | 内分泌代謝疾患 | NKX2-1 [HSA:7080] [KO:K09342] | |
| H00914 | ワルシャワ破壊症候群 | Warsaw breakage syndrome is a cohesinopathy characterized by cellular defects in sister chromatid cohesion and hypersensitivity to agents that induce replication stress. It is caused by defective DDX11/ChlR1 ... | 先天奇形 | DDX11 [HSA:1663] [KO:K11273] | |
| H00915 | 結節性硬化症 | Tuberous sclerosis complex (TSC), also known as Bourneville-Pringle disease, is a rare, slowly progressive genetic disorder characterized by pervasive benign tumors in most organ systems including the ... | 先天奇形 |
(TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207] |
|
| H00916 | 先天性中枢性低換気症候群 | Congenital central hypoventilation syndrome (CCHS) is a disorder characterized by an idiopathic failure of the automatic control of breathing. It is frequently associated with a broad spectrum of dysautonomic ... | 神経系疾患 |
(CCHS1) PHOX2B [HSA:8929] [KO:K09330] (CCHS2) MYOH1 [HSA:283446] [KO:K10356] (CCHS3) LBX1 [HSA:10660] [KO:K09353] ASCL1 [HSA:429] [KO:K09067] |
|
| H00917 |
先天性赤血球形成異常性貧血 先天性赤血球生成不全性貧血 先天性赤血球異形成貧血 |
Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Non-erythroid ... | 血液疾患 |
(CDAN1A) CDAN1 [HSA:146059] [KO:K19531] (CDAN1B) CDIN1 [HSA:84529] [KO:K24865] (CDAN2) SEC23B [HSA:10483] [KO:K14006] (CDAN3A) KIF23 [HSA:9493] [KO:K17387] (CDAN3B) RACGAP1 [HSA:29127] [KO:K16733] (CDAN4A/4B) KLF1 [HSA:10661] [KO:K09204] |
|
| H00918 | 両大血管右室起始症 | Double outlet right ventricle (DORV) is a clinically significant congenital heart defect. DORV is a condition in which the aorta rises from the right ventricle and is associated with ventricular septal ... | 循環器系疾患 |
NKX2-5 [HSA:1482] [KO:K09345] CFC1 [HSA:55997] [KO:K25454] GDF1 [HSA:2657] [KO:K05495] |
|
| H00919 | 動脈蛇行症候群 | Arterial tortuosity syndrome is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the large and medium-sized arteries with defective elastic fibers ... | 先天奇形 | SLC2A10 [HSA:81031] [KO:K08147] | |
| H00920 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis | Patients with this disease suffer from exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Mutations in COX4I2, an essential component of cytochrome c oxidase complex ... | 先天性代謝異常症, ミトコンドリア病 | COX4I2 [HSA:84701] [KO:K02263] | |
| H00921 |
Revesz 症候群 常染色体優性遺伝性角化異常症 5 骨髄不全を伴う滲出性網膜症 |
Revesz syndrome is a rare congenital disorder characterized by bilateral exudative retinopathy, severe aplastic anaemia, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation ... | 先天奇形 | TINF2 [HSA:26277] [KO:K11112] | |
| H00922 | Schinzel-Giedion 症候群 | Schinzel-Giedion midface retraction syndrome is a rare congenital disorder characterized by severe mental retardation, midface retraction, cardiac and urogenital malformations, skeletal malformations, ... | 先天奇形 | SETBP1 [HSA:26040] [KO:K23217] | |
| H00923 | グルタミン合成の異常 | Congenital systemic glutamine deficiency (CSGD) is a rare developmental disorder with severe brain malformation resulting in multi-organ failure and neonatal death. Glutamine synthetase plays a major role ... | 先天性代謝異常症 | GLUL [HSA:2752] [KO:K01915] | |
| H00924 | NHEJ1 症候群 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation is a syndrome associated with T and B cell-combined lymphocytopenia, growth retardation, microcephaly ... | 原発性免疫不全症 | NHEJ1 [HSA:79840] [KO:K10980] | |
| H00925 |
MHBD 欠損症 HSD10 ミトコンドリア病 |
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency is a recently described X-linked inborn error in the metabolism of isoleucine. This disorder is characterized by normal early development followed ... | 先天性代謝異常症 | HSD17B10 [HSA:3028] [KO:K08683] | |
| H00926 | Growth retardation, developmental delay, coarse facies, and early death | This disease is characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits, and characteristic facial dysmorphism. Death within 30 months after birth ... | 先天奇形 | FTO [HSA:79068] [KO:K19469] | |
| H00927 | カイロミクロン停滞病 | Chylomicron retention disease (CRD) is a rare autosomal recessive disorder characterized by malabsorption, failure to thrive (FTT), developmental difficulties, mental retardation, abnormal vibration sense ... | 先天性代謝異常症 | SAR1B [HSA:51128] [KO:K07953] | |
| H00928 | 前脛骨表皮水泡症と難聴を伴う腎症 | Nephropathy with pretibial epidermolysis bullosa and deafness is a hereditary nephritis. Patients also have pretibial bullous skin lesions and neurosensory deafness. Nonsense mutations in CD151, an essential ... | 泌尿器系疾患 | CD151 [HSA:977] [KO:K06537] | |
| H00929 | 先天性垂直距骨 | Congenital vertical talus is a primary dislocation of the talonavicular joint of autosomal dominant mode of inheritance. It is associated with rigid dorsal dislocation of the navicular over the neck of ... | 先天奇形 | HOXD10 [HSA:3236] [KO:K09295] | |
| H00930 | 低アルファリポ蛋白血症 | Hypoalphalipoproteinemia is a common finding in patients with premature coronary artery disease. Familial hypoalphalipoproteinemia syndromes are phenotypically heterogeneous. One form is associated with ... | 先天性代謝異常症 |
ABCA1 [HSA:19] [KO:K05641] APOA1 [HSA:335] [KO:K08757] |
|
| H00931 | Growth hormone insensitivity with immunodeficiency | Growth hormone insensitivity with immunodeficiency (GHISID) is a combined phenotype of growth hormone insensitivity that resembles Laron syndrome and immunodeficiency. Homozygous inactivating mutation ... | 内分泌代謝疾患 | (GHISID1/2) STAT5B [HSA:6777] [KO:K11224] | |
| H00932 | 石灰沈着性膵炎 | Tropical calcific pancreatitis (TCP) is a subtype of chronic pancreatitis unique to developing countries in tropical regions. Patients present with recurrent abdominal pain, nutritional deficiencies, and ... | 消化器系疾患 |
SPINK1 [HSA:6690] [KO:K23417] CTRC [HSA:11330] [KO:K01311] CTSB [HSA:1508] [KO:K01363] |