U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
  • CN042792 has been replaced by C1968748, showing C1968748

GM1-gangliosidosis, type I, with cardiac involvement

MedGen UID:
369337
•Concept ID:
C1968748
•
Disease or Syndrome
Synonyms: Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement; Gm1 Gangliosidosis, Type I, with Cardiac Involvement
 
OMIM®: 230500; 611458

Recent clinical studies

Etiology

Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease.
Suzuki Y
Brain Dev 2013 Jun;35(6):515-23. Epub 2013 Jan 3 doi: 10.1016/j.braindev.2012.12.002. PMID: 23290321

Diagnosis

GM1 gangliosidosis: patients with different phenotypic features and novel mutations.
Emecen Sanli M, Dogan M
J Pediatr Endocrinol Metab 2023 Jun 27;36(6):602-607. Epub 2023 Apr 13 doi: 10.1515/jpem-2022-0630. PMID: 37042746
Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity.
Yang CF, Wu JY, Tsai FJ
J Biomed Sci 2010 Sep 30;17(1):79. doi: 10.1186/1423-0127-17-79. PMID: 20920281Free PMC Article

Therapy

Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease.
Suzuki Y
Brain Dev 2013 Jun;35(6):515-23. Epub 2013 Jan 3 doi: 10.1016/j.braindev.2012.12.002. PMID: 23290321

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • 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...