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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| H02678 | 肋骨と脊椎の異常を伴う外眼筋麻痺 | External ophthalmoplegia with rib and vertebral anomalies (EORVA) is characterized by congenital ophthalmoplegia with scoliosis and vertebral and rib anomalies. It has been reported that loss-of-function ... | 筋骨格疾患 | MYF5 [HSA:4617] [KO:K18484] | |
| H02679 | Miura型骨端軟骨異形成症 | Epiphyseal chondrodysplasia, Miura type (ECDM) is a skeletal dysplasia with tall stature, arachnodactyly of the hands, macrodactyly of the great toes, scoliosis, coxa valga, and slipped capital femoral ... | 先天奇形 | NPR2 [HSA:4882] [KO:K12324] | |
| H02680 | 成長遅滞・早期の呼吸不全・ミオクロニー発作および脳の異常を伴う神経変性 | Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities (NDDRSB) is characterized by microcephaly, profound neurodevelopmental impairment, exaggerated ... | 先天奇形 | MED11 [HSA:400569] [KO:K15131] | |
| H02681 | 非特異性骨格異常を伴う低身長症 | Short stature with nonspecific skeletal abnormalities (SNSK) is characterized by short stature defined as a height less than 2 SD below normal, no endocrine abnormalities. SNSK is caused by heterozygous ... | 先天奇形 | NPR2 [HSA:4882] [KO:K12324] | |
| H02682 | Nizon-Isidor 症候群 | Nizon-Isidor syndrome (NIZIDS) is a neurodevelopmental disorder characterized by intellectual disability and developmental delay, including speech impairment. It has been reported that mutations in MED12L ... | 精神及び行動の障害 | MED12L [HSA:116931] [KO:K15162] | |
| H02683 | 様々な外胚葉異常を伴う不整脈原性心筋症 | Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities (ARCME) is a novel autosomal recessive cardio-cutaneous syndrome, characterized by dilated cardiomyopathy associated with mild skin ... | 先天奇形 | PPP1R13L [HSA:10848] [KO:K27356] | |
| H02684 | 先天性白内障と発達遅滞を伴う進行性ミトコンドリア筋症 | Mitochondrial progressive myopathy with congenital cataract and developmental delay (MPMCD) is a rare mitochondrial encephalomyopathy caused by mutations in the GFER gene. Their phenotype included congenital ... | 神経系疾患 | GFER [HSA:2671] [KO:K17783] | |
| H02685 | 精神神経系障害を伴う発達遅滞 | Developmental delay with neuropsychiatric disorders is a group of neurodevelopmental disorders characterized by global developmental delay and neurologic deficits. Additional features may include speech ... | 先天奇形 |
(DIGFAN) MORC2 [HSA:22880] [KO:K24135] (DDISBA) SPTBN1 [HSA:6711] [KO:K06115] (DEHMBA) SRCAP [HSA:10847] [KO:K11661] (DENBA) LMBRD2 [HSA:92255] [KO:K28261] (DEDISB) ARFGEF1 [HSA:10565] [KO:K18442] (DEDHIL) FBXW7 [HSA:55294] [KO:K10260] (DEDBANP) ADGRL1 [HSA:22859] [KO:K04592] (DEVLO) ARPC4 [HSA:10093] [KO:K05755] (DEDHMB) GOLGA2 [HSA:2801] [KO:K20358] (DDDS) MANF [HSA:7873] [KO:K22556] (DDVIBA) TCF20 [HSA:6942] [KO:K24769] (DIDOD) PHIP [HSA:55023] [KO:K11797] (DDIB) TAOK1 [HSA:57551] [KO:K04429] |
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| H02686 | 顔異形と歯の異常を伴う発達遅滞 | Developmental delay with dysmorphic facies and dental anomalies (DEFDA) is a neurodevelopmental disorder associated with SATB1 dysfunction. SATB1 encodes a transcription factor with crucial roles in development ... | 先天奇形 | (DEFDA/DHDBV) SATB1 [HSA:6304] [KO:K23225] | |
| H02687 | 先天性難聴および成人発症型進行性白質脳症 | Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE) is a severe neurological and neurosensory disease caused by mutations in KARS. Patients have a combination of early-onset deafness ... | 神経系疾患 | KARS1 [HSA:3735] [KO:K04567] | |
| H02688 | Dworschak-Punetha 神経発達症候群 | Dworschak-Punetha neurodevelopmental syndrome (DWOPNED) is a novel neurodevelopmental syndrome mainly comprising developmental delay, brain, and eye anomalies. It has been reported that mutations in PLXNA1 ... | 先天奇形 | PLXNA1 [HSA:5361] [KO:K06820] | |
| H02689 | 白質ジストロフィーを伴う網膜ジストロフィー | Retinal dystrophy with leukodystrophy (RDLKD) is a defect in peroxisomal very long-chain fatty acid metabolism. It has been reported that mutations in ACBD5 cause this disease. ACBD5 encodes a peroxisomal ... | 先天性代謝異常症 | ACBD5 [HSA:91452] [KO:K27288] | |
| H02690 | 構造的心疾患および腎異常症候群 | Structural heart defects and renal anomalies syndrome (SHDRA) is a severe developmental disorder associated with congenital cardiac malformations and early childhood mortality. It has been reported that ... | 先天性代謝異常症 | TMEM260 [HSA:54916] [KO:K27244] | |
| H02691 | 頭皮・耳・乳首症候群 | Scalp-ear-nipple syndrome (SENS) is a rare autosomal dominant condition that involves lesions of the scalp, malformed external ears, and absence of rudimentary nipples and breasts. It has been reported ... | 先天奇形 | KCTD1 [HSA:284252] [KO:K21754] | |
| H02692 | Usmani-Riazuddin 症候群 | Usmani-Riazuddin syndrome is a neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. It has been reported that mutations in AP1G1 cause this disease. AP1G1 encodes ... | 神経系疾患 | AP1G1 [HSA:164] [KO:K12391] | |
| H02693 | 角膜反射消失と発達遅滞を伴う先天性脳神経支配異常症 | Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial ... | 神経系疾患 | NEUROG1 [HSA:4762] [KO:K09081] | |
| H02694 | Alazami-Yuan 症候群 | Alazami-Yuan syndrome (ALYUS) is an autosomal-recessive disorder with Cornelia de Lange syndrome-like features [DS:H00631]. It is caused by homozygous mutations in TAF6, which encodes a core transcriptional ... | 先天奇形 | TAF6 [HSA:6878] [KO:K03131] | |
| H02695 | 線維症・神経変性および脳血管腫症 | Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) is a novel autosomal recessive disease characterized by early-onset cerebropulmonary symptoms, malabsorption, growth failure, recurrent infections ... | 先天奇形 | NHLRC2 [HSA:374354] [KO:K28146] | |
| H02696 | 早期発症型てんかん | Early-onset epilepsy (EPEO) is a neurological abnormality in childhood, and it is especially common in the first 2 years after birth. Seizures in early life mostly result from structural or metabolic disorders ... | 神経系疾患 |
(EPEO1) PLPBP [HSA:11212] [KO:K06997] (EPEO2) SETD1A [HSA:9739] [KO:K11422] (EPEO3) ATP6V0C [HSA:527] [KO:K02155] (EPEO4) ALDH7A1 [HSA:501] [KO:K14085] |
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| H02697 | Long-Olsen-Distelmaier 症候群 | Long-Olsen-Distelmaier syndrome (LNGODS) is a syndromic fetal dilated cardiomyopathy associated with hepatopathy and brain abnormalities. It has been reported that gain-of-function mutations in RRAGC cause ... | 先天奇形 | RRAGC [HSA:64121] [KO:K16186] | |
| H02698 | Trichohepatoneurodevelopmental 症候群 | Trichohepatoneurodevelopmental syndrome (THNS) is a rare autosomal recessive disease characterized by woolly hair, liver dysfunction, dysmorphic features, hypotonia, and global developmental delay. It ... | 先天奇形 | CCDC47 [HSA:57003] [KO:K24962] | |
| H02699 | 葉酸反応性巨赤芽球性貧血症 | Folate-responsive megaloblastic anemia (MEGAF) is a severe recurrent megaloblastic anemia caused by mutations in SLC19A1. It has been reported that the laboratory abnormalities and clinical signs were ... | 先天性代謝異常症 | SLC19A1 [HSA:6573] [KO:K14609] | |
| H02700 | 言葉の遅れおよび顔異形を伴う知的発達障害 | Intellectual developmental disorder (IDD) with speech delay and dysmorphic facies is a group of disorders characterized by speech difficulty and intellectual disability. It has been reported that mutations ... | 精神及び行動の障害 |
(IDDILF) DDX6 [HSA:1656] [KO:K12614] (IDDSADF) CNOT3 [HSA:4849] [KO:K12580] (IDNADFS) CNOT2 [HSA:4848] [KO:K12605] |
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| H02701 | 様々な脳筋症状を伴う反復性代謝クライシス | Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is a novel form of mitochondrial myopathy. It has been reported that mutations in SLC25A42 cause ... | 先天性代謝異常症, ミトコンドリア病 |
(MECREN) SLC25A42 [HSA:284439] [KO:K15085] (MECRCN) TANGO2 [HSA:128989] [KO:K28098] |
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| H02702 | 肥厚性皮膚角化症・食道癌症候群 | Tylosis with esophageal cancer (TOC) is an autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime risk of esophageal cancer. It has been reported ... | 先天奇形 | RHBDF2 [HSA:79651] [KO:K27588] | |
| H02703 | VISS 症候群 | VISS syndrome (vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity) is a syndromic connective tissue disorder caused by bi-allelic mutations in IPO8. Importin 8, encoded ... | 先天奇形 | IPO8 [HSA:10526] [KO:K18755] | |
| H02704 | ミトコンドリアミオパチーおよび運動失調症 | Mitochondrial myopathy and ataxia (MMYAT) is a rare disease characterized by early-onset myopathy and cerebellar ataxia. It has been reported that mutations in MSTO1 cause this disease. MSTO1 is a soluble ... | 神経系疾患 | MSTO1 [HSA:55154] [KO:K27320] | |
| H02705 | グルタミン酸作動性シナプスの異常を伴う神経発達障害 | Glutamate is the major excitatory neurotransmitter in the central nervous system (CNS) and mediates its actions via activation of both ionotropic and metabotropic receptor families. Recent studies have ... | 神経系疾患 |
(NEDLIB) GRIA2 [HSA:2891] [KO:K05198] (NEDSGA) GRIA4 [HSA:2893] [KO:K05200] (NDHMSD/NDHMSR) GRIN1 [HSA:2902] [KO:K05208] (NEDSHBA) GRM7 [HSA:2917] [KO:K04609] (NEDHISB) GNAI1 [HSA:2770] [KO:K04630] (NEDHYDF) GNB2 [HSA:2783] [KO:K04537] |
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| H02706 | 痙性対麻痺を伴う（伴わない）早期発症ジストニア | Early-onset dystonia and/or spastic paraplegia (DYTSPG) is an autosomal dominant neurological disease caused by mutations in ATP5MC3. ATP5MC3 encodes the c subunit of mitochondrial complex V. | 神経系疾患 | ATP5MC3 [HSA:518] [KO:K02128] | |
| H02707 | Khan-Khan-Katsanis 症候群 | Khan-Khan-Katsanis syndrome (3KS) is a neurodevelopmental disorder with microcephaly. NCAPG2 encodes a member of the condensin II complex, necessary for the condensation of chromosomes prior to cell division | 先天奇形 | NCAPG2 [HSA:54892] [KO:K11492] |