Rare Endocrinology News

Disease Profile


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.


US Estimated

Europe Estimated

Age of onset





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.


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.


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 type 14; GSDXIV; Phosphoglucomutase deficiency type 1;


Congenital and Genetic Diseases; Digestive Diseases; Heart Diseases;


PGM1-CDG is one of the many subtypes of congenital disorders of glycosylation (CDG), which are inherited diseases that affect the body's process of adding sugar building blocks to proteins (glycosylation).[1] There are many steps in glycosylation, each of which is controlled by a different gene. The type of CDG a person has depends on which gene is involved.[2] 

The signs and symptoms of PGM1-CDG can be different from person to person. They may include cleft palate or bifid uvula; low blood sugar (hypoglycemia); endocrine disorders; muscle disease, leading to muscle weakness or death of muscle fibers (rhabdomyolysis); liver disease; blood clotting problems; and a weak and enlarged heart chamber (dilated cardiomyopathy).[1][2] Some people with PGM1-CDG have central nervous system involvement such as seizures, development delay, or intellectual disability.[2]

PGM1-CDG is caused by mutations in the PGM1 gene and inheritance is autosomal recessive.[1][2][3] The diagnosis may be suspected based on symptoms and specific blood test results, and it is confirmed with genetic testing.[1] Treatment depends on the symptoms and severity in each person and may include oral D-galactose supplementation, standard treatment of hypoglycemia, and/or heart medications or heart transplantation for cardiomyopathy.[1][2] The course of the disorder and whether symptoms or complications may affect the lifespan are difficult to predict and vary among people with PGM1-CDG.[4]


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:
5%-29% of people have these symptoms
Cerebral venous thrombosis
Blood clot in cerebral vein
Trouble breathing
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase

[ more ]


[ more ]

Little lower jaw
Small jaw
Small lower jaw

[ more ]

Pierre-Robin sequence
Reduced antithrombin III activity
Breakdown of skeletal muscle
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
Bifid uvula
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

Dilated cardiomyopathy
Stretched and thinned heart muscle
Elevated hepatic transaminase
High liver enzymes
Exercise intolerance
Decreased ability to exercise
Inability to exercise

[ more ]

Hepatic steatosis
Fatty infiltration of liver
Fatty liver

[ more ]

Liver inflammation
Low blood sugar
Muscle weakness
Muscular weakness
Short stature
Decreased body height
Small stature

[ more ]

Fast heart rate
Heart racing
Racing heart

[ more ]

Type I transferrin isoform profile


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

    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 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.
      • 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.


        1. What is CDG?. CDG Care. https://cdgcare.com/what-is-cdg/. Accessed 3/13/2019.
        2. Radenkovic S, Witters P, Morava E. Central nervous involvement is common in PGM1-CDG. Mol Genet Metab. November, 2018; 125(3:200-204. https://www.sciencedirect.com/science/article/pii/S1096719218303184?via%3Dihub.
        3. Congenital Disorder of Glycosylation, Type It; CDG1T. Online Mendelian Inheritance in Man (OMIM). November 30, 2017; https://www.omim.org/entry/614921.
        4. Wong SY, Beamer LJ, Gadomski T, et al. Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency. J Pediatr. August, 2016; 175:130-136. https://www.ncbi.nlm.nih.gov/pubmed/27206562.