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Disease Profile
Glycogen storage disease type 4
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
E74.0
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)
GSD 4; Andersen disease; Brancher deficiency;
Categories
Congenital and Genetic Diseases; Heart Diseases; Nervous System Diseases
Summary
Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (
Symptoms
There have also been reports of neuromuscular forms of GSD 4, most of which become apparent in late childhood. These may be characterized by skeletal muscle or heart muscle disease (myopathy or
A more severe neuromuscular form that is apparent at birth has also been reported; this form may be characterized by generalized edema (swelling cause by fluid); decreased muscle tone (
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 cardiomyocyte morphology | 0031331 | |
Abnormal muscle glycogen content | 0012269 | |
Abnormal neuron branching | 0500032 | |
Generalized abnormality of skin |
Generalised abnormality of skin
|
0011354 |
Hepatomegaly |
Enlarged liver
|
0002240 |
30%-79% of people have these symptoms | ||
Dilated cardiomyopathy |
Stretched and thinned heart muscle
|
0001644 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hypoalbuminemia |
Low blood albumin
|
0003073 |
Motor delay | 0001270 | |
Myopathy |
Muscle tissue disease
|
0003198 |
5%-29% of people have these symptoms | ||
Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Esophageal varix |
Enlarged vein in esophagus
|
0002040 |
Fetal akinesia sequence | 0001989 | |
Flexion contracture |
Flexed joint that cannot be straightened
|
0001371 |
Hepatic failure |
Liver failure
|
0001399 |
Hepatosplenomegaly |
Enlarged liver and spleen
|
0001433 |
Nonimmune hydrops fetalis | 0001790 | |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Portal |
0001409 | |
Prolonged partial thromboplastin time | 0003645 | |
Prolonged prothrombin time | 0008151 | |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Severe muscular hypotonia |
Severely decreased muscle tone
|
0006829 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
Percent of people who have these symptoms is not available through HPO | ||
Arthrogryposis multiplex congenita | 0002804 | |
0000007 | ||
Cardiomyopathy |
Disease of the heart muscle
|
0001638 |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Hydrops fetalis | 0001789 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Reduced tendon reflexes | 0001315 | |
Tubulointerstitial fibrosis | 0005576 |
Cause
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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
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 diagnoses include galactosemia, hydrops fetalis, and tyrosinemia (see these terms).APBD can also present with or without GBE deficiency indicating that different biochemical defects could result in an identical phenotype.
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
-
Association for Glycogen Storage Disease UK (AGSD-UK)
PO Box 1232
Bristol
BS48 9DD
United Kingdom
Telephone: 0300 123 2790
E-mail: https://agsd.org.uk/contact/message-us2/
Website: https://www.agsd.org.uk/ -
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
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
- Genetics Home Reference (GHR) contains information on Glycogen storage disease type 4. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Glycogen storage disease type 4. Click on the link to view a sample search on this topic.
References
- Marsden D. Andersen Disease (GSD IV). NORD. 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/394/viewAbstract. Accessed 12/23/2012.
- GBE1. Genetics Home Reference. November 2009; https://ghr.nlm.nih.gov/gene/GBE1. Accessed 12/23/2012.
- Wayne E Anderson. Glycogen Storage Disease, Type IV Treatment & Management. eMedicine. November 12, 2009; https://emedicine.medscape.com/article/119690-treatment#showall. Accessed 9/8/2011.
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