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Disease Profile
GM1 gangliosidosis type 2
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.
<1 / 1 000 000
Age of onset
Childhood
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Gangliosidosis generalized GM1 type 2; Gangliosidosis generalized GM1 juvenile type
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
GM1 gangliosidosis is an
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
|
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the face |
Abnormal face
Facial abnormality
[ more ] |
0000271 |
| Abnormality of the liver |
Abnormal liver
Liver abnormality
[ more ] |
0001392 |
| Abnormality of the spleen | 0001743 | |
| 0001251 | ||
| 0000007 | ||
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Coxa valga | 0002673 | |
| Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
| Generalized myoclonic |
0002123 | |
| Optic atrophy | 0000648 | |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Progressive psychomotor deterioration | 0007272 | |
| Sea-blue histiocytosis | 0001982 | |
| Spastic tetraplegia | 0002510 | |
| Ventriculomegaly | 0002119 | |
Related diseases
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.
|
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
-
Cure GM1 Foundation
PO Box 6890
Albany , CA 94706
E-mail: [email protected]
Website: https://curegm1.org/ -
Hide and Seek Foundation for Lysosomal Storage Disease Research
6475 East Pacific Coast Highway
Suite 466
Long Beach, CA 90803
Toll-free: (844) 762-7672
E-mail: [email protected]
Website: https://hideandseek.org -
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org -
National Tay-Sachs and Allied Diseases Association (NTSAD)
2001 Beacon Street, Suite 204
Boston, MA 02135
Toll-free: 800-906-8723
Fax: 617-277-4463
E-mail: [email protected]
Website: https://www.ntsad.org/
Organizations Providing General Support
-
Alex The Leukodystrophy Charity (Alex TLC)
45 Peckham High Street
London, SE15 5EB United Kingdom
Telephone: 020 7701 4388
E-mail: [email protected]
Website: https://www.alextlc.org
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
- The American Society of Gene & Cell Therapy provides information on the treatment of genetic diseases.
- Genetics Home Reference (GHR) contains information on GM1 gangliosidosis type 2. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Tay-Sachs and Allied Diseases Association, Inc. provides information about GM1 gangliosidosis. Click on the link to access this information.
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 2. Click on the link to view a sample search on this topic.
References
- GM1 gangliosidosis. Genetics Home Reference. August 2013; https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis.
- 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.