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Disease Profile
Adenosine monophosphate deaminase 1 deficiency
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
G71.3
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)
AMP deaminase 1 deficiency; Myoadenylate deaminase deficiency; AMPD1 deficiency;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Adenosine monophosphate deaminase 1 (AMPD1) deficiency is an
Other types of AMPD deficiency include the acquired type (due to a muscle or joint condition), and the coincidental inherited type (due to both mutations in the AMPD1 gene and a separate muscle or joint disorder).[1]
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Exercise-induced muscle fatigue | 0009020 | |
Exercise-induced myalgia |
Exercise-induced muscle pain
Muscle pain on exercise
Muscle pain with exercise
Muscle pain, exercise-induced
[ more ] |
0003738 |
Limb muscle weakness |
Limb weakness
|
0003690 |
Muscle spasm | 0003394 | |
5%-29% of people have these symptoms | ||
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Rhabdomyolysis |
Breakdown of skeletal muscle
|
0003201 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Increased muscle fatiguability | 0003750 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Cause
Other types of AMPD deficiency are known as the acquired type (due to a different muscle or joint condition), and the coincidental
Treatment
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 Providing General Support
-
Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: [email protected]
Website: https://www.mda.org -
United Mitochondrial Disease Foundation
8085 Saltsburg Road, Suite 201
Pittsburgh, PA 15239
Toll-free: 1-888-317-8633
Telephone: +1-412-793-8077
Fax: +1-412-793-6477
E-mail: [email protected]
Website: https://www.umdf.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 Adenosine monophosphate deaminase 1 deficiency. This website is maintained by the National Library of Medicine.
In-Depth Information
- The Merck Manual for health care professionals provides information on Adenosine monophosphate deaminase 1 deficiency.
- 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.
Orphanet
Orphanet - PubMed is a searchable database of medical literature and lists journal articles that discuss Adenosine monophosphate deaminase 1 deficiency. Click on the link to view a sample search on this topic.
References
- Adenosine monophosphate deaminase deficiency. Genetics Home Reference (GHR). July 2008; https://ghr.nlm.nih.gov/condition=adenosinemonophosphatedeaminasedeficiency.
- Gross M. Orphanet. September 2001; https://www.orpha.net/data/patho/GB/uk-AMPD.pdf. Accessed 5/12/2009.
- Sabina RL, Holmes EW. Myoadenylate Deaminase Deficiency. The Molecular and Metabolic Bases of Genetic Diseases, 8th edition. New York, NY: McGraw Hill; 2001;
- Harris JC. Chapter 89 Disorders of Purine and Pyrimidine Metabolism. Nelson Textbook of Pediatrics, 18th edition. Saunders; 2007;
- Manfred Gross. Adenosine monophosphate deaminase deficiency. Orphanet. February, 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=45.
- Sabina RL. Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation. Neurol Clin. February, 2000; 18(1):185-194.
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