Jansky-Bielschowsky disease

Jansky-Bielschowsky disease
Classification and external resources
ICD-10	E 75.4
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

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, leukodystrophy)	Sulfatide: Metachromatic leukodystrophy · Multiple sulfatase deficiency Galactocerebroside: Krabbe disease

To sphingosine	Ceramide: Farber disease

Infantile · Jansky-Bielschowsky disease · Batten disease

Other

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)