ビールショウスキー・ヤンスキー病
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）』「2015/09/30 01:10:13」(JST)
[Wiki en表示]
| Jansky–Bielschowsky disease |
| Classification and external resources |
| Specialty |
endocrinology |
| ICD-10 |
E75.4 |
| ICD-9-CM |
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)
|
|
Sphingolipidoses
(to ceramide) |
From ganglioside
(gangliosidoses) |
- Ganglioside: GM1 gangliosidoses
- GM2 gangliosidoses (Sandhoff disease
- Tay–Sachs disease
- AB variant)
|
|
| From globoside |
- Globotriaosylceramide: Fabry's disease
|
|
| From sphingomyelin |
- Sphingomyelin: phospholipid: Niemann–Pick disease (SMPD1-associated
- type C)
- Glucocerebroside: Gaucher's disease
|
|
From sulfatide
(sulfatidoses
|
- Sulfatide: Metachromatic leukodystrophy
- Multiple sulfatase deficiency
- Galactocerebroside: Krabbe disease
|
|
| To sphingosine |
|
|
|
| NCL |
- Infantile
- Jansky–Bielschowsky disease
- Batten disease
|
|
| Other |
- Cerebrotendineous xanthomatosis
- Cholesteryl ester storage disease (Lysosomal acid lipase deficiency/Wolman disease)
- Sea-blue histiocytosis
|
|
|
Index of inborn errors of metabolism
|
|
| Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- phospholipid
- cholesterol and steroid
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- nucleotide
|
|
| Disorders |
- Citric acid cycle and electron transport chain
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
|
|
| Treatment |
|
|
|
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 Apr;94(4):339-47. doi: 10.1002/jnr.23710. Epub 2016 Jan 13.
- 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
- Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
- Katata Y1, Uematsu M2, Sato H1, Suzuki S1, Nakayama T1, Kubota Y1, Kobayashi T1, Hino-Fukuyo N1, Saitsu H3, Kure S1.
- Brain & development.Brain Dev.2016 Mar;38(3):341-5. doi: 10.1016/j.braindev.2015.09.008. Epub 2015 Oct 9.
- Neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous neurodegenerative lysosomal diseases. Fourteen distinct NCL subtypes (CLN1-CLN14) are known, and they are caused by mutations in different genes. CLN8 was first identified in Finnish patients, and the phenotype was su
- PMID 26443629
- Plasma biomarkers for neuronal ceroid lipofuscinosis.
- Hersrud SL1,2, Geraets RD1,2, Weber KL1, Chan CH1, Pearce DA1,2.
- The FEBS journal.FEBS J.2016 Feb;283(3):459-71. doi: 10.1111/febs.13593. Epub 2015 Dec 17.
- The neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative genetic diseases that primarily affect children and have no known cure. A unified clinical rating scale for the juvenile form of NCL has been developed, although it has not been validated in other subtypes and does not give a
- PMID 26565144
Japanese Journal
- A new procedure for the isolation of brain gangliosides, and determination of their long chain base compositions.
- KAWAMURA Nariko,TAKETOMI Tamotsu
- The Journal of Biochemistry 81(5), 1217-1225, 1977
- … Total gangliosides were isolated from grey and white matter of animal brains and human brains at various ages, including the pathological brain of a patient with late infantile amaurotic family idiocy (Bielschowsky-Jansky disease) by a new procedure. … The ratios of individual gangliosides in the patient with Bielschowsky-Jansky disease were 2 to 3 times lower than those of age-matched controls. …
- NAID 130003540244
Related Links
- What is Bielschowsky-Jansky disease? Meaning of Bielschowsky-Jansky disease medical term. What does Bielschowsky-Jansky disease mean? Bielschowsky-Jansky disease | definition of Bielschowsky-Jansky disease by ...
- Bielschowsky-Jansky disease synonyms, Bielschowsky-Jansky disease pronunciation, Bielschowsky-Jansky disease translation, English dictionary definition of Bielschowsky-Jansky disease. n. 1. An abnormal condition of a ...
★リンクテーブル★
[★]
- 英
- Bielschowsky-Jansky disease
- 同
- 乳児後期型家族性黒内障性白痴 late infantile familial amaurotic idiocy
[★]
- 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
[★]
ビールショウスキー