Orphanet: GM1 gangliosidosis type 2

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

GM1 gangliosidosis type 2

Disease definition

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.


Classification level: Subtype of disorder
  • Synonym(s):
    • Juvenile GM1 gangliosidosis
    • Late-infantile GM1 gangliosidosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E75.1
  • OMIM: 230600
  • UMLS: C0268272
  • MeSH: -
  • GARD: 10126
  • MedDRA: -

Detailed information


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.