KEGG DISEASE: Tay-Sachs disease

KEGG

DISEASE: Tay-Sachs disease

Entry

H02016                      Disease

Name

Tay-Sachs disease;
GM2 gangliosidoses type I

Supergrp

GM2 gangliosidoses [DS:H00124]
Gangliosidosis [DS:H00426]
Sphingolipidosis [DS:H00423]
Lysosomal storage disease [DS:H01425]

Description

Tay-Sachs disease is an autosomal recessive lysosomal storage disorder caused by mutations in HEXA that encodes beta hexosaminidase subunit alpha. In the absence of hexosaminidase A, GM2 ganglioside cannot be hydrolyzed and therefore accumulates primarily in neuronal tissues. This results in progressive neurologic degeneration. Patients with infantile Tay-Sachs disease die before the age of five, whereas patients with the juvenile and adult forms have a delayed onset.

Category

Inherited metabolic disorder, Lysosomal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H02016  Tay-Sachs disease
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
  nt06014  Sphingolipid degradation
   H02016  Tay-Sachs disease

Pathway

Glycosphingolipid biosynthesis - ganglio series

Glycosaminoglycan degradation

Other glycan degradation

Lysosome

Network

nt06014 Sphingolipid degradation

Gene

HEXA [HSA:3073] [KO:K12373]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Triggs-Raine BL, Feigenbaum AS, Natowicz M, Skomorowski MA, Schuster SM, Clarke JT, Mahuran DJ, Kolodny EH, Gravel RA

Title

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.

Journal

N Engl J Med 323:6-12 (1990)
DOI:10.1056/NEJM199007053230102

Reference

Authors

Akerman BR, Natowicz MR, Kaback MM, Loyer M, Campeau E, Gravel RA

Title

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

Journal

Am J Hum Genet 60:1099-106 (1997)

Reference

Authors

Tanaka A, Ohno K, Sandhoff K, Maire I, Kolodny EH, Brown A, Suzuki K

Title

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.

Journal

Am J Hum Genet 46:329-39 (1990)

LinkDB

» Japanese version

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