U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Tay-Sachs disease, B1 variant

MedGen UID:
336452
•Concept ID:
C1848916
•
Disease or Syndrome
Synonym: Tay-Sachs Disease, Variant B1
SNOMED CT: B1 variant hexosaminidase A deficiency (238024005)
 
Monarch Initiative: MONDO:0017728
OMIM®: 272800; 606869
Orphanet: ORPHA309239

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTay-Sachs disease, B1 variant

Professional guidelines

PubMed

Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?
Duarte AJ, Ribeiro D, Oliveira P, Amaral O
Arch Med Res 2017 Apr;48(3):263-269. doi: 10.1016/j.arcmed.2017.04.001. PMID: 28923328

Recent clinical studies

Prognosis

Tay-Sachs disease: B1 variant.
Gordon BA, Gordon KE, Hinton GG, Cadera W, Feleki V, Bayleran J, Hechtman P
Pediatr Neurol 1988 Jan-Feb;4(1):54-7. doi: 10.1016/0887-8994(88)90026-4. PMID: 2976595

Clinical prediction guides

Tay-Sachs disease: B1 variant.
Gordon BA, Gordon KE, Hinton GG, Cadera W, Feleki V, Bayleran J, Hechtman P
Pediatr Neurol 1988 Jan-Feb;4(1):54-7. doi: 10.1016/0887-8994(88)90026-4. PMID: 2976595

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...