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Disease Profile
Galactosialidosis
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
All ages
ICD-10
E77.1
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)
Goldberg syndrome; Neuraminidase deficiency with beta-galactosidase deficiency; Lysosomal protective protein deficiency of;
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
Galactosialidosis affects many different body systems, including the brain, eyes, muscles, and skeleton. There are three different types: early infantile, late infantile and juvenile/adult. The most common type is juvenile/adult galactosialidosis. Individuals with this type start developing symptoms in adolescence. Symptoms include difficulty walking, vision problems, spine abnormalities, dark red spots on the skin, and
Symptoms
Infants with early infantile galactosialidosis have symptoms that usually appear before or at the time of birth. The signs and symptoms of include:[1][2]
- Abnormal fluid build up in the fetus or newborn (hydrops fetalis)
- Enlarged liver and/or spleen (
hepatosplenomegaly ) - Enlarged heart (
cardiomyopathy ) - Abnormal bone development (dysostosis multiplex)
- Cherry red spot on the back of the eye
Kidney disease that gets worse with time- Facial features that are described as 'coarse'
Symptoms of the late infantile type of galactosialidosis usually start after 6 months of age, and are similar, but less severe, to those of the early infantile type. Additional features include hearing and vision loss, growth problems, and
The juvenile/adult type of galactosialidosis has symptoms that are somewhat different than those of the other two types. Symptoms typically start in adolescence, but the age at onset and severity is variable. Symptoms include:[1][2]
- Difficulty coordinating movements (
ataxia ) - Muscle twitches (myoclonus)
- Seizures
- Visual loss
- Dark red spots on the skin (angiokeratomas)
The symptoms of the early and late infantile types of galactosialidosis often lead to a shortened life span. The symptoms of the juvenile/adult type vary in severity and age of onset. The symptoms include
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal vertebral morphology | 0003468 | |
Cherry red spot of the macula | 0010729 | |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Corneal opacity | 0007957 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Intellectual disability |
Mental deficiency
Mental-retardation
Mental retardation, nonspecific
Mental retardation
[ more ] |
0001249 |
Seizure | 0001250 | |
Skeletal dysplasia | 0002652 | |
5%-29% of people have these symptoms | ||
Hepatosplenomegaly |
Enlarged liver and spleen
|
0001433 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Conjunctival telangiectasia |
Small dilated blood vessels near membrane covering front of eye and eyelids
|
0000524 |
Decreased beta-galactosidase activity | 0008166 | |
Dysostosis multiplex | 0000943 | |
Hemangioma |
Strawberry mark
|
0001028 |
Nonimmune hydrops fetalis | 0001790 | |
Opacification of the corneal stroma | 0007759 | |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
Visceromegaly | 0003271 |
Diagnosis
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Specialists involved in the care of someone with galactosialidosis may include:
Medical geneticist Neurologist Ophthalmologist
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
-
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 -
The International Advocates for Glycoprotein Storage Diseases (ISMRD)
20880 Canyon View Drive
Saratoga, CA 95070
E-mail: [email protected]
Website: https://www.ismrd.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 Galactosialidosis. This website is maintained by the National Library of Medicine.
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 Galactosialidosis. Click on the link to view a sample search on this topic.
References
- Annunziata I, d'Azzo A. Galactosialidosis: historic aspects and overview of investigated and emerging treatment options. Expert Opin Orphan Drugs. 2017; 5(2):131-141. https://pubmed.ncbi.nlm.nih.gov/28603679.
- Sade Sláma T, GarbF, Kölker S, Hoffmann GF, Ries M. Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.. J Inherit Metab Dis. 2019; 42(2):295-302. https://pubmed.ncbi.nlm.nih.gov/30693535.
- Prada CE, Gonzaga-Jauregui C, Tannenbaum R, et al. Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. Eur J Med Genet. 2014; 57(7):339-344. https://pubmed.ncbi.nlm.nih.gov/24769197.
- Galactosialidosis; GSL. Online Mendelian Inheritance in Man. Updated 7/15/2016; https://www.omim.org/entry/256540.
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