KEGG MEDICUS 疾患情報 |
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| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
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| H02077 | Snowflake 硝子体網膜変性 | Snowflake vitreoretinal degeneration (SVD) is an autosomal dominant retinal degeneration characterized by small yellow-white dots in the retina, fibrillar anomaly of the vitreous humor, and retinal detachment ... | 神経系疾患 | KCNJ13 [HSA:3769] [KO:K05006] | |
| H02078 | 硝子体網脈絡膜症 | Vitreoretinochoroidopathy (VRCP) is a rare, early-onset retinal dystrophy characterised by distinct bands of circumferential pigmentary degeneration in the peripheral retina and developmental eye defects ... | 神経系疾患 | BEST1 [HSA:7439] [KO:K13878] | |
| H02079 |
耳・脊椎・巨大骨端異形成症 OSMED Weissenbacher-Zweymuller 症候群 |
Otospondylomegaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutations of type XI collagen. It could be either of autosomal dominant or recessive etiology. OSMED is characterized by typical ... | 先天奇形 | COL11A2 [HSA:1302] [KO:K19721] | |
| H02080 | 線維性軟骨発生症 | Fibrochondrogenesis is a very rare, neonatally lethal, short-limb skeletal dysplasia. It is an autosomal recessive disorder shown to result from mutations in the COL11A1 type XI collagen gene. Recently ... | 先天奇形 |
(FBCG1) COL11A1 [HSA:1301] [KO:K19721] (FBCG2) COL11A2 [HSA:1302] [KO:K19721] |
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| H02081 | マーシャル症候群 | Marshall syndrome (MRSHS) is a rare autosomal dominant skeletal dysplasia caused by mutations in COL11A1, which encodes collagen type XI alpha-1 chain. It is characterized by midfacial hypoplasia, high ... | 先天奇形 | COL11A1 [HSA:1301] [KO:K19721] | |
| H02082 | Floating-Harbor 症候群 | Floating-Harbor syndrome is a rare syndrome characterized by short stature, characteristic face, and an expressive speech delay. Mutations in SRCAP, encoding chromatin-remodeling factor, cause this disease | 先天奇形 | SRCAP [HSA:10847] [KO:K11661] | |
| H02083 | 限局性顔皮膚異形成 | The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterized by skin lesions resembling aplasia cutis congenita. Four subtypes are classified by the ... | 先天奇形 |
(FFDD3) TWIST2 [HSA:117581] [KO:K09069] (FFDD4) CYP26C1 [HSA:340665] [KO:K12665] |
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| H02084 | アメリカ先住民ミオパチー | Native American myopathy (NAM) is autosomal recessive myopathy that was first reported in the Lumbee Indians of North Carolina. NAM features include myopathic facies, susceptibility to malignant hyperthermia ... | 神経系疾患; 筋骨格疾患 | STAC3 [HSA:246329] [KO:K23713] | |
| H02085 | アシル CoA デヒドロゲナーゼ 9 欠損症 | Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is one of the mitochondrial fatty-acid oxidation disorders that has recently been described. ACAD9 is a mitochondrial protein involved in oxidative phosphorylation ... | 先天性代謝異常症 | ACAD9 [HSA:28976] [KO:K15980] | |
| H02086 | ミトコンドリア 複合体 III 欠損症 | Mitochondrial complex III deficiency (MC3DN) is a relatively rare devastating disorder that impairs energy generation, and leads to variable symptoms such as developmental regression, seizures, kidney ... | 先天性代謝異常症, ミトコンドリア病 |
(MC3DN1) BCS1L [HSA:617] [KO:K08900] (MC3DN2) TTC19 [HSA:54902] [KO:K18169] (MC3DN3) UQCRB [HSA:7381] [KO:K00417] (MC3DN4) UQCRQ [HSA:27089] [KO:K00418] (MC3DN5) UQCRC2 [HSA:7385] [KO:K00415] (MC3DN6) CYC1 [HSA:1537] [KO:K00413] (MC3DN7) UQCC2 [HSA:84300] [KO:K17682] (MC3DN8) LYRM7 [HSA:90624] [KO:K18170] (MC3DN9) UQCC3 [HSA:790955] [KO:K23165] (MC3DN10) UQCRFS1 [HSA:7386] [KO:K00411] (MC3DN11) UQCRH [HSA:7388] [KO:K00416] |
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| H02087 | 先天性 NAD 欠乏症 | Vertebral, cardiac, renal, and limb defects syndrome (VCRL) is an autosomal recessive congenital malformation syndrome. It has been reported that disruption of nicotinamide adenine dinucleotide (NAD) synthesis ... | 先天性代謝異常症 |
(VCRL1) HAAO [HSA:23498] [KO:K00452] (VCRL2) KYNU [HSA:8942] [KO:K01556] (VCRL3) NADSYN1 [HSA:55191] [KO:K01950] |
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| H02088 | Primary intraosseous vascular malformation | Primary intraosseous vascular malformation (VMPI), previously called intraosseous hemangioma, is a very rare malformation that is usually seen in the vertebral column and in the skull. It is almost exclusively ... | 循環器系疾患 | ELMO2 [HSA:63916] [KO:K18985] | |
| H02089 | Winchester 症候群 | Winchester syndrome is a rare skeletal disorder originally described nearly 50 years ago in two sisters with a severe crippling osteolysis. Previously, Winchester syndrome and multicentric osteolysis, ... | 筋骨格疾患 | MMP14 [HSA:4323] [KO:K07763] | |
| H02090 | トレハラーゼ欠乏症 | Trehalase deficiency is a disorder characterized by abdominal pain, distention, and flatulence after trehalose ingestion. Trehalose is a disaccharide found in mushrooms, algae, and insect haemolymph. Intestinal ... | 先天性代謝異常症 | TREH [HSA:11181] [KO:K01194] | |
| H02091 | ジャーベル・ランゲ・ニールセン症候群 | Jervell Lange-Nielsen syndrome (JLNS) is a rare autosomal recessive disorder with congenital deafness and long-QT syndrome. Mutations in the potassium-channel gene KVLQT1 have been identified in JLNS. ... | 循環器系疾患 |
(JLNS1) KCNQ1 [HSA:3784] [KO:K04926] (JLNS2) KCNE1 [HSA:3753] [KO:K04894] |
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| H02092 | フォン・ヴィレブランド病 | Von Willebrand disease (VWD) is the most common autosomally inherited bleeding disorder characterized by abnormal quantity or quality of von Willebrand factor (VWF). Type 1 VWD exhibits a mild to moderate ... | 血液疾患 | VWF [HSA:7450] [KO:K03900] | |
| H02093 | 血小板型フォン・ヴィレブランド病 | Platelet-type von Willebrand disease (PT-VWD) is an autosomal dominant bleeding disorder caused by gain-of-function mutations of GP1BA gene coding for the platelet surface glycoprotein Ib alpha protein ... | 血液疾患 | GP1BA [HSA:2811] [KO:K06261] | |
| H02094 |
Carvajal 症候群 羊毛状毛髪と角皮症を伴う拡張型心筋症 |
Carvajal syndrome, also known as dilated cardiomyopathy with woolly hair and keratoderma (DCWHK) is an autosomal recessive disorder, manifesting with dilated left ventricular cardiomyopathy, woolly hair ... | 先天奇形 | DSP [HSA:1832] [KO:K10381] | |
| H02095 | Perrault 症候群 | Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive condition characterized by sensorineural hearing loss and ovarian failure. Previously mutations have been described in ... | 先天奇形 |
(PRLTS1) HSD17B4 [HSA:3295] [KO:K12405] (PRLTS2) HARS2 [HSA:23438] [KO:K01892] (PRLTS3) CLPP [HSA:8192] [KO:K01358] (PRLTS4) LARS2 [HSA:23395] [KO:K01869] (PRLTS5) TWNK [HSA:56652] [KO:K17680] (PRLTS6) ERAL1 [HSA:26284] [KO:K03595] (PRLTS7) DAP3 [HSA:7818] [KO:K17408] |
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| H02096 | ペルオキシソームアシルCoAオキシダーゼ欠損症 | Peroxisomal acyl-CoA oxidase deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation due to a deficiency of straight-chain acyl-CoA oxidase (ACOX1). The biochemical hallmark ... | 先天性代謝異常症 | ACOX1 [HSA:51] [KO:K00232] | |
| H02097 | 灰色血小板症候群 | Gray platelet syndrome (GPS) is a mild to moderate bleeding disorder characterized by the presence of macrothrombocytopenia and gray-appearing platelets in a peripheral blood smear. The diagnosis of GPS ... | 血液疾患 | NBEAL2 [HSA:23218] [KO:K23286] | |
| H02098 |
D-二頭酵素欠損症 DBP 欠損症 |
D-bifunctional protein (DBP) deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. DBP is a homodimeric enzyme with 79-kDa subunits, each of which consists of three functional ... | 先天性代謝異常症 | HSD17B4 [HSA:3295] [KO:K12405] | |
| H02099 |
2-メチルアシルCoAラセマーゼ欠損症 AMACR 欠損症 |
Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal disorder associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Homozygous ... | 先天性代謝異常症 | AMACR [HSA:23600] [KO:K01796] | |
| H02100 | ペルオキシソーム脂肪酸アシルCoAレダクターゼ 1 欠損症 | Peroxisomal fatty acyl-CoA reductase 1 (FAR1) disorder is a peroxisomal disorder, that is also referred to as rhizomelic chondrodysplasia punctata type 4 (RCDP4). It is characterized by syndromic severe ... | 先天性代謝異常症 | FAR1 [HSA:84188] [KO:K13356] | |
| H02101 | 常染色体優性遺伝性感覚性運動失調 | Autosomal dominant sensory ataxia (ADSA) is a rare genetic condition that results in a progressive ataxia. ADSA is suggested to be caused by degeneration of the posterior columns of the spinal cord. The ... | 神経系疾患 | (SNAX1) RNF170 [HSA:81790] [KO:K15707] | |
| H02102 | Myhre 症候群 | Myhre syndrome (MYHRS) is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and skeletal anomalies ... | 先天奇形 | SMAD4 [HSA:4089] [KO:K04501] | |
| H02103 | DeSanto-Shinawi 症候群 | DeSanto-Shinawi syndrome is characterised by facial dysmorphism, eye abnormalities, developmental delay, behavioral abnormalities, and hypotonia. Recent case reports of patients have implicated overlapping ... | 染色体異常 | WAC [HSA:51322] [KO:K23884] | |
| H02104 |
巨大角膜 X 連鎖巨大角膜 |
Megalocornea (MGC1) is a rare congenital disease of the anterior eye segment characterized by bilateral enlarged corneas with a horizontal diameter of 13 mm or more (measured after the age of two years) ... | 神経系疾患 | CHRDL1 [HSA:91851] [KO:K24520] | |
| H02105 | プロホルモン転換酵素 1/3 欠損症 | Proprotein convertase 1/3 (PC1/3) deficiency is a rare autosomal recessive disorder caused by mutations in the PCSK1 gene. It is associated with early-onset obesity, severe malabsorptive diarrhea, certain ... | 内分泌代謝疾患 | PCSK1 [HSA:5122] [KO:K01359] | |
| H02106 | 遺伝性肥満 | Obesity predisposes to many diseases. It has a very heterogeneous phenotypic expression and the molecular mechanisms involved in its development are diverse. Although environmental factors are important ... | 内分泌代謝疾患 |
NR0B2 [HSA:8431] [KO:K08563] SDC3 [HSA:9672] [KO:K16337] GHRL [HSA:51738] [KO:K05254] PPARG [HSA:5468] [KO:K08530] CARTPT [HSA:9607] [KO:K25453] PPARGC1B [HSA:133522] [KO:K17962] ENPP1 [HSA:5167] [KO:K01513] ADRB2 [HSA:154] [KO:K04142] ADRB3 [HSA:155] [KO:K04143] AGRP [HSA:181] [KO:K05231] UCP1 (polymorphism) [HSA:7350] [KO:K08769] UCP3 [HSA:7352] [KO:K15103] (OBAIRH) POMC [HSA:5443] [KO:K05228] (BMIQ4) UCP2 [HSA:7351] [KO:K15103] (BMIQ9) MC3R [HSA:4159] [KO:K04201] (BMIQ10) FFAR4 [HSA:338557] [KO:K08425] (BMIQ11) SLC6A14 [HSA:11254] [KO:K05047] (BMIQ12) PCSK1 [HSA:5122] [KO:K01359] (BMIQ14) FTO [HSA:79068] [KO:K19469] (BMIQ17) AQP7 [HSA:364] [KO:K08771] (BMIQ18) MRAP2 [HSA:112609] [KO:K25968] (BMIQ19) ADCY3 [HSA:109] [KO:K08043] (BMIQ20) MC4R [HSA:4160] [KO:K04202] |