hereditary disorders

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  • Combined gating and trafficking defect in Kv11.1 manifests as a malignant long QT syndrome phenotype in a large Danish p.F29L founder family.
  • Kanters JK1,2, Skibsbye L1, Hedley PL3,4, Dembic M1,3, Liang B1, Hagen CM1,3, Eschen O5, Grunnet M1, Christiansen M1,3, Jespersen T1.
  • Scandinavian journal of clinical and laboratory investigation.Scand J Clin Lab Invest.2015 Dec;75(8):699-709. doi: 10.3109/00365513.2015.1091090. Epub 2015 Sep 24.
  • BACKGROUND: Congenital long QT syndrome (LQTS) is a hereditary cardiac channelopathy characterized by delayed ventricular repolarization, syncope, torsades de pointes and sudden cardiac death. Thirty-three members of five apparently 'unrelated' Danish families carry the KCNH2:c.87C> A; p.F29L fou
  • PMID 26403377
  • Exon 8-17 deletions of SPAST in a Chinese family with hereditary spastic paraplegia: A case report and literature review.
  • Wang K1, Zhao G2.
  • Journal of the neurological sciences.J Neurol Sci.2015 Oct 15;357(1-2):282-4. doi: 10.1016/j.jns.2015.07.003. Epub 2015 Jul 3.
  • Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders. SPG4 is the most common autosomal dominant form of HSP subtypes and is caused by mutations of the SPAST gene. Here we reported a Chinese family with HSP caused by deletion of exons
  • PMID 26165777
  • Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.
  • Stiburkova B1, Stekrova J, Nakamura M, Ichida K.
  • The American journal of the medical sciences.Am J Med Sci.2015 Oct;350(4):268-71. doi: 10.1097/MAJ.0000000000000550.
  • BACKGROUND: Renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid (UA) transport with severe complications, such as acute kidney injury. Type 1 is caused by a mutation in the SLC22A12 gene (URAT1) and type 2 in the SLC2A9 gene (GLUT9). In this ar
  • PMID 26418379


  • PFAPA症候群例
  • 吉田 沙絵子,高原 幹,長門 利純,林 達哉,原渕 保明
  • 耳鼻咽喉科臨床 106(4), 329-333, 2013
  • … The periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is a non-hereditary autoinflammatory syndrome characterized by periodic episodes of these conditions. … The tonsil is deeply associated with the etiology of autoinflammatory disorders in PFAPA syndrome. …
  • NAID 130003374046
  • Identification of a Novel Homozygous SPG7 Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia and Spastic Paraplegia
  • Doi Hiroshi,Ohba Chihiro,Tsurusaki Yoshinori,Miyatake Satoko,Miyake Noriko,Saitsu Hirotomo,Kawamoto Yuko,Yoshida Tamaki,Koyano Shigeru,Suzuki Yume,Kuroiwa Yoshiyuki,Tanaka Fumiaki,Matsumoto Naomichi
  • Internal Medicine 52(14), 1629-1633, 2013
  • … Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias are clinically and genetically heterogeneous disorders with diverse neurological and non-neurological features. … For disorders previously undetected in a particular population, or unrecognized/atypical phenotypes, exome sequencing may facilitate molecular diagnosis. …
  • NAID 130003365707


GENETIC DISORDERS AND HEREDITARY DISORDERS By Akul. Mehta Genetic disorder are either hereditary disorders or a result of mutations. Some disorders may confer an advantage, at least in certain environments. There are ...
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  • 障害:個人的苦痛や機能の障害があるので「疾病」とは言えるものの、その背景にある臓器障害がもう一つはっきりしない場合に用いられる。(PSY.9)
  • n.
  • an untidy state; a lack of order or organization (⇔order)
  • violent behaviour of large groups of people
  • an illness that cause a part of the body to stop functioning correctly
  • 注意
disease <> illness <> disorder
  • vt.
  • 乱す、乱雑にする。(人)の(心身の)調子を狂わせる。
  • vi.

WordNet   license wordnet

「bring disorder to」

WordNet   license wordnet

「a physical condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; "everyone gets stomach upsets from time to time"」

WordNet   license wordnet

「a disturbance of the peace or of public order」

PrepTutorEJDIC   license prepejdic

「〈U〉『無秩序』,混乱,乱雑(confusion) / 《しばしば複数形で》(社会的・政治的な)粉争,騒動 / 〈C〉(肉体的・精神的な)不調,異常,障害 / …‘の'秩序を乱す / 〈心身〉‘に'異常を起こさせる」



  • adj.
  • 遺伝性の、遺伝の
heredityheritableinheritinheritableinheritable characterinheritanceinherited

PrepTutorEJDIC   license prepejdic

「世襲の,親譲りの / 遺伝的な,遺伝性の」