Rare Endocrinology News
Disease Profile
Phosphoglycerate kinase 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.
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Age of onset
Childhood
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)
PGK deficiency; Phosphoglycerate kinase 1 deficiency; PGK1 deficiency
Categories
Blood Diseases; Congenital and Genetic Diseases; Metabolic disorders;
Summary
Orpha Number: 713
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 | ||
0001251 | ||
Decreased hemoglobin concentration | 0020062 | |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
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 |
Global |
0001263 | |
0001878 | ||
Hyperbilirubinemia |
High blood bilirubin levels
|
0002904 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] |
0002076 |
Muscle spasm | 0003394 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Myoglobinuria | 0002913 | |
Myopathy |
Muscle tissue disease
|
0003198 |
Reticulocytosis |
Increased immature red blood cells
Increased number of immature red blood cells
[ more ] |
0001923 |
Rhabdomyolysis |
Breakdown of skeletal muscle
|
0003201 |
Tremor | 0001337 | |
5%-29% of people have these symptoms | ||
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
Retinal dystrophy |
Breakdown of light-sensitive cells in back of eye
|
0000556 |
Visual loss |
Loss of vision
Vision loss
[ more ] |
0000572 |
1%-4% of people have these symptoms | ||
Blindness | 0000618 | |
Percent of people who have these symptoms is not available through HPO | ||
Emotional lability |
Emotional instability
|
0000712 |
Exercise intolerance |
Decreased ability to exercise
Inability to exercise
[ more ] |
0003546 |
Exercise-induced muscle cramps |
Exercise-induced muscle cramping
Muscle cramps following exercise
Muscle cramps on exercise
Muscle cramps on exertion
Muscle cramps with exertion
[ more ] |
0003710 |
Exercise-induced myoglobinuria | 0008305 | |
0001250 | ||
0001419 |
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 Phosphoglycerate kinase deficiency. This website is maintained by the National Library of Medicine.
In-Depth Information
- 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.