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Disease Profile

Lethal congenital glycogen storage disease of the heart

Prevalence
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

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; Fatal congenital hypertrophic cardiomyopathy due to GSD; Fatal congenital hypertrophic cardiomyopathy due to glycogenosis

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
5%-29% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue

[ more ]

0000158
Seizure
0001250
Percent of people who have these symptoms is not available through HPO
Ascites
Accumulation of fluid in the abdomen
0001541
Autosomal dominant inheritance
0000006
Biventricular hypertrophy
0200128
Bradycardia
Slow heartbeats
0001662
Cardiomegaly
Enlarged heart
Increased heart size

[ more ]

0001640
Cardiomyopathy
Disease of the heart muscle
0001638
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Cyanosis
Blue discoloration of the skin
0000961
Hypotension
Low blood pressure
0002615
Myopathy
Muscle tissue disease
0003198
Neonatal hypoglycemia
Low blood sugar in newborn
0001998
Pulmonary edema
Excess fluid in lungs
Wet lung

[ more ]

0100598
Shortened PR interval
0005165

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.

In-Depth Information

  • 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.