WordNet
- an impairment of health or a condition of abnormal functioning
- (of genes) producing its characteristic phenotype only when its allele is identical
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
- of or relating to an autosome; "autosomal gene"
PrepTutorEJDIC
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- 後退する,退行の / (遺伝が)劣性の / 劣性遺伝形質
- 病気にかかった / 病的な,不健全な(morbid)
UpToDate Contents
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- 1. 小児における常染色体劣性多発性嚢胞腎 autosomal recessive polycystic kidney disease in children
- 2. 嚢胞性腎疾患の胎児超音波診断 prenatal sonographic diagnosis of cystic renal disease
- 3. 小児における常染色体優性多発性嚢胞腎 autosomal dominant polycystic kidney disease in children
- 4. 成人における小脳性運動失調の概要 overview of cerebellar ataxia in adults
- 5. 常染色体優性間質性腎臓病（髄質嚢胞性腎疾患） autosomal dominant interstitial kidney disease medullary cystic kidney disease
English Journal
- Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease.
- Li Y1, Sekine T2, Funayama M1, Li L2, Yoshino H3, Nishioka K2, Tomiyama H4, Hattori N5.Author information 1Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Tokyo, Japan; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.2Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.3Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Tokyo, Japan.4Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Department of Neuroscience for Neurodegenerative Disorders, Juntendo University School of Medicine, Tokyo, Japan.5Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Tokyo, Japan; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Department of Neuroscience for Neurodegenerative Disorders, Juntendo University School of Medicine, Tokyo, Japan. Electronic address: nhattori@juntendo.ac.jp.AbstractThe glucocerebrosidase gene (GBA) is a known risk factor of Parkinson's disease (PD). We sequenced entire coding exons and exon/intron boundaries of GBA in 147 Japanese familial PD (FPD) patients from 144 families and 100 unrelated control subjects. Twenty-seven of 144 (18.8%) of index patients were heterozygous for known Gaucher disease mutations, suggesting that GBA heterozygous mutations are strongly associated with FPD (odds ratio = 22.9, 95% confidence interval = 3.1-171.2). The frequency was significantly higher in autosomal dominant PD (ADPD) compared with autosomal recessive PD. According to clinical assessments, PD patients with GBA mutations exhibited typical manifestations of PD or dementia with Lewy bodies (DLB), such as L-dopa responsive parkinsonism with psychiatric problems and/or cognitive decline. Interestingly, they also presented with reduced myocardial (123)I-metaiodobenzylguanidine uptake. Our findings suggest that heterozygous GBA mutations are strong risk factors in FPD, especially for autosomal dominant PD. Some patients with GBA heterozygous mutations develop clinical features of DLB. We speculate that GBA dysfunction may promote Lewy body formation, resulting in more severe PD or DLB phenotypes that are inherited in families.
- Neurobiology of aging.Neurobiol Aging.2014 Apr;35(4):935.e3-8. doi: 10.1016/j.neurobiolaging.2013.09.019. Epub 2013 Oct 12.
- The glucocerebrosidase gene (GBA) is a known risk factor of Parkinson's disease (PD). We sequenced entire coding exons and exon/intron boundaries of GBA in 147 Japanese familial PD (FPD) patients from 144 families and 100 unrelated control subjects. Twenty-seven of 144 (18.8%) of index patients were
- PMID 24126159
- A novel homozygous no-stop mutation in G6PC gene from a Chinese patient with glycogen storage disease type Ia.
- Gu LL1, Li XH1, Han Y1, Zhang DH1, Gong QM2, Zhang XX3.Author information 1Department of Infectious Diseases, Institute of Infectious and Respiratory Diseases, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Sino-French Laboratory of Life Science and Genomics, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.2Department of Infectious Diseases, Institute of Infectious and Respiratory Diseases, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. Electronic address: gongqm@hotmail.cm.3Department of Infectious Diseases, Institute of Infectious and Respiratory Diseases, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Sino-French Laboratory of Life Science and Genomics, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. Electronic address: zhangx@shsmu.edu.cn.AbstractGlycogen storage disease type Ia (GSD-Ia) is an autosomal recessive genetic disorder resulting in hypoglycemia, hepatomegaly and growth retardation. It is caused by mutations in the G6PC gene encoding Glucose-6-phosphatase. To date, over 80 mutations have been identified in the G6PC gene. Here we reported a novel mutation found in a Chinese patient with abnormal transaminases, hypoglycemia, hepatomegaly and short stature. Direct sequencing of the coding region and splicing-sites in the G6PC gene revealed a novel no-stop mutation, p.*358Yext*43, leading to a 43 amino-acid extension of G6Pase. The expression level of mutant G6Pase transcripts was only 7.8% relative to wild-type transcripts. This mutation was not found in 120 chromosomes from 60 unrelated healthy control subjects using direct sequencing, and was further confirmed by digestion with Rsa I restriction endonuclease. In conclusion, we revealed a novel no-stop mutation in this study which expands the spectrum of mutations in the G6PC gene. The molecular genetic analysis was indispensable to the diagnosis of GSD-Ia for the patient.
- Gene.Gene.2014 Feb 25;536(2):362-5. doi: 10.1016/j.gene.2013.11.059. Epub 2013 Dec 16.
- Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive genetic disorder resulting in hypoglycemia, hepatomegaly and growth retardation. It is caused by mutations in the G6PC gene encoding Glucose-6-phosphatase. To date, over 80 mutations have been identified in the G6PC gene. Here we re
- PMID 24355556
- Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
- Liu S1, Zhang W2, Shi H3, Meng Y3, Qiu Z4.Author information 1Department of Pediatrics, PUMC Hospital, CAMS&PUMC, Beijing 100730, PR China.2Clinical Research Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, PR China.3Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, PR China.4Department of Pediatrics, PUMC Hospital, CAMS&PUMC, Beijing 100730, PR China. Electronic address: zhengqingqiu33@aliyun.com.AbstractBACKGROUND: Mucolipidosis type III gamma (MLIII gamma) is an autosomal recessive disease caused by a mutation in the GNPTG gene, which encodes the γ subunit of the N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase). This protein plays a key role in the transport of lysosomal hydrolases to the lysosome.
- Gene.Gene.2014 Feb 10;535(2):294-8. doi: 10.1016/j.gene.2013.11.010. Epub 2013 Dec 6.
- BACKGROUND: Mucolipidosis type III gamma (MLIII gamma) is an autosomal recessive disease caused by a mutation in the GNPTG gene, which encodes the γ subunit of the N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase). This protein plays a key role in the transport of lysosomal hyd
- PMID 24316125
Japanese Journal
- 本邦でみられる常染色体劣性遺伝性脊髄小脳変性症
- 臨床神経学 advpub(0), 2016
- NAID 130005151291
- Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature
- Intractable & Rare Diseases Research 5(2), 124-128, 2016
- NAID 130005150674
- Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature
- Intractable & Rare Diseases Research advpub(0), 2016
- NAID 130005140062
Related Links
- Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the ...
- Thesaurus Antonyms Related Words Synonyms Legend: Noun 1. autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome autosomal recessive defect congenital disease, genetic abnormality ...
Related Pictures
★リンクテーブル★
| リンク元 | 「常染色体劣性遺伝病」「常染色体性劣性遺伝疾患」「autosomal recessive disorder」 |
| 関連記事 | 「disease」「recessive」「autosomal recessive」「autosomal」 |
「常染色体劣性遺伝病」
autosomal-recessive diseases(first aid step 1 p.108)
- 嚢胞線維症 cystic fibrosis
- 白皮症 albinism
- α1アンチトリプシン欠損症 α1-antitrypsin deficiency
- フェニルケトン尿症 phenylketonuria
- サラセミア thalassemias
- 鎌状赤血球貧血 sickle cell anemia
- グリコーゲン貯蔵病 glycogen storage disease
- ムコ多糖症(ハンター症候群以外) mucopolysaccharidoses (except Hunter's syndrome)
- スフィンゴリピドーシス(ファブリー病以外) sphingolipidoses (except Fabry's disease)
- 幼児型嚢胞腎 infant polycystic kidney disease
- ヘモクロマトーシス hemochromatosis
「常染色体性劣性遺伝疾患」
「autosomal recessive disorder」
「disease」
- n.
- 疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
- 特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
- something that is very wrong with people's attitudes, way of life or with society.
- 注意
「recessive」
- adj.
- 劣性の、劣性遺伝性の
「autosomal recessive」
- 常染色体劣性遺伝の、常染色体劣性の
「autosomal」
- adj.
- 常染色体性の、常染色体の