National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

GM1 gangliosidosis type 1


Other Names:
Gangliosidosis generalized GM1 type 1; Gangliosidosis generalized GM1 infantile form; Beta galactosidase deficiency type 1; Gangliosidosis generalized GM1 type 1; Gangliosidosis generalized GM1 infantile form; Beta galactosidase deficiency type 1; GLB deficiency type 1 See More
Categories:
This disease is grouped under:
GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.[1][2]
Last updated: 11/17/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Cherry red spot of the macula 0010729
Percent of people who have these symptoms is not available through HPO
Abnormal heart valve morphology 0001654
Abnormality of the urinary system
Urinary tract abnormalities
Urinary tract abnormality
Urinary tract anomalies
[ more ] 		0000079
Angiokeratoma corporis diffusum 0001071
Autosomal recessive inheritance 0000007
Beaking of vertebral bodies 0004568
Cerebral degeneration 0007313
Coarse facial features
Coarse facial appearance
0000280
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Death in infancy
Infantile death
Lethal in infancy
[ more ] 		0001522
Decreased beta-galactosidase activity 0008166
Depressed nasal ridge
Flat nose
Recessed nasal ridge
[ more ] 		0000457
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Frontal bossing 0002007
Gingival overgrowth
Gum enlargement
0000212
Hepatomegaly
Enlarged liver
0002240
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypertrichosis 0000998
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Hypoplastic vertebral bodies
Underdeveloped back bones
0008479
Inguinal hernia 0000023
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Scoliosis 0002650
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] 		0003510
Short neck
Decreased length of neck
0000470
Splenomegaly
Increased spleen size
0001744
Thickened ribs 0000900
Vacuolated lymphocytes 0001922
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes mucopolysaccharidoses, sphingolipidoses and oligosaccharidoses (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss GM1 gangliosidosis type 1. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My son has been diagnosed with GM1 gangliosidosis. Please tell me more about this condition. See answer


  1. GM1 gangliosidosis. Genetics Home Reference. August 2013; http://ghr.nlm.nih.gov/condition/gm1-gangliosidosis.
  2. Anna Caciotto, Maria Alice Donati, and Amelia Morrone. GM1 Gangliosidosis. Orphanet. May, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354.