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  3. Lethal congenital glycogen storage disease of the heart
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Lethal congenital glycogen storage disease of the heart


Title




Not a rare disease Not a rare disease

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

Symptoms Symptoms


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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.

Showing of 16 |
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
Showing of 16 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Learn More Learn More


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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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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You can help advance rare disease research!
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