WordNet
- an impairment of health or a condition of abnormal functioning
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
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
- 病気にかかった / 病的な,不健全な(morbid)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2012/11/20 21:53:54」(JST)
[Wiki en表示]
Jansky–Bielschowsky disease |
Classification and external resources |
ICD-10 |
E75.4 |
ICD-9 |
330.1 |
OMIM |
204500 |
DiseasesDB |
31535 |
MeSH |
D009472 |
Jansky–Bielschowsky disease is a late-infantile form of neuronal ceroid lipofuscinosis associated with a deficiency in tripeptidyl peptidase I.[1]
Eponym
It is named for Jan Janský and Max Bielschowsky.[2]
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 204500
- ^ synd/866 at Who Named It?
External links
- GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis
(LSD) Inborn error of lipid metabolism: lipid storage disorders (E75, 272.7–272.8)
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Sphingolipidoses
(to ceramide) |
From ganglioside
(gangliosidoses)
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- Ganglioside: GM1 gangliosidoses
- GM2 gangliosidoses (Sandhoff disease
- Tay–Sachs disease
- AB variant)
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From globoside
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- Globotriaosylceramide: Fabry's disease
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From sphingomyelin
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- Sphingomyelin: phospholipid: Niemann–Pick disease (SMPD1-associated
- type C)
Glucocerebroside: Gaucher's disease
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From sulfatide
(sulfatidoses
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- Sulfatide: Metachromatic leukodystrophy
- Multiple sulfatase deficiency
Galactocerebroside: Krabbe disease
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To sphingosine
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NCL |
- Infantile
- Jansky–Bielschowsky disease
- Batten disease
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Other |
- Cerebrotendineous xanthomatosis
- Cholesteryl ester storage disease (Lysosomal acid lipase deficiency/Wolman disease)
- Sea-blue histiocyte syndrome
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mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
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k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
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m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
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UpToDate Contents
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English Journal
- The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?
- Faller KM1, Bras J2, Sharpe SJ1, Anderson GW3, Darwent L2, Kun-Rodrigues C2, Alroy J4, Penderis J5, Mole SE6, Gutierrez-Quintana R1, Guerreiro RJ2.
- Journal of neuroscience research.J Neurosci Res.2016 Jan 13. doi: 10.1002/jnr.23710. [Epub ahead of print]
- Neuronal ceroid lipofuscinoses (NCLs) are a group of incurable lysosomal storage disorders characterized by neurodegeneration and accumulation of lipopigments mainly within the neurons. We studied two littermate Chihuahua dogs presenting with progressive signs of blindness, ataxia, pacing, and cogni
- PMID 26762174
- Proteomic Profiling in the Brain of CLN1 Disease Model Reveals Affected Functional Modules.
- Tikka S1,2, Monogioudi E2,3, Gotsopoulos A4, Soliymani R1, Pezzini F5, Scifo E1,6,7, Uusi-Rauva K2,8, Tyynelä J1, Baumann M1, Jalanko A9,8, Simonati A5, Lalowski M10,11.
- Neuromolecular medicine.Neuromolecular Med.2015 Dec 26. [Epub ahead of print]
- Neuronal ceroid lipofuscinoses (NCL) are the most commonly inherited progressive encephalopathies of childhood. Pathologically, they are characterized by endolysosomal storage with different ultrastructural features and biochemical compositions. The molecular mechanisms causing progressive neurodege
- PMID 26707855
- Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.
- Henderson MX1,2,3, Wirak GS1,2, Zhang YQ1,2, Dai F4, Ginsberg SD5,6, Dolzhanskaya N7, Staropoli JF8,9,10, Nijssen PC11, Lam TT12, Roth AF13, Davis NG13, Dawson G14, Velinov M15,7, Chandra SS16,17,18,19.
- Acta neuropathologica.Acta Neuropathol.2015 Dec 10. [Epub ahead of print]
- Neuronal ceroid lipofuscinoses (NCL) are a group of inherited neurodegenerative disorders with lysosomal pathology (CLN1-14). Recently, mutations in the DNAJC5/CLN4 gene, which encodes the presynaptic co-chaperone CSPα were shown to cause autosomal-dominant NCL. Although 14 NCL genes have been iden
- PMID 26659577
Japanese Journal
- Positron emission tomography in neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease): a case report
- Early juvenile neuronal ceroid-lipofuscinosis or variant Jansky-Bielschowsky disease : diagnostic criteria and nomenclature
- Jansky-Bielschowsky variant disease : CT, MRI, and SPECT findings
Related Links
- Jan·sky-Bielschowsky disease (jăn′skē, yän′-) n. The early juvenile type of cerebral sphingolipidosis. Also called Bielschowsky's disease. Jansky-Bielschowsky disease [yahn′skē byelschov′ske] the late infantile form of neuronal ...
- Jansky-Bielschowsky disease symptoms, causes, diagnosis, and treatment information for Jansky-Bielschowsky disease (Ceroid lipofuscinosis, neuronal 2, late infantile type) with alternative diagnoses, full-text book chapters ...
★リンクテーブル★
[★]
- 英
- Jansky-Bielschowsky disease
- 同
- 遅発乳児型神経元セロイドリポフスチン沈着症 late infantile neuronal ceroid lipofuscinosis、CLN2
- 関
- 神経元セロイドリポフスチン沈着症
[★]
- 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.
- 関
- ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness
- disease ≠ illness ≠ disorder
[★]
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