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Disease Profile

GM1 gangliosidosis type 1

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

E75.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Gangliosidosis generalized GM1 type 1; Gangliosidosis generalized GM1 infantile form; Beta galactosidase deficiency type 1;

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

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]

Symptoms

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.

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

Organizations

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

    Organizations Providing General Support

      Learn more

      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.

          References

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