The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of immune system physiology||90%|
|Abnormality of lipid metabolism||90%|
|Autosomal recessive inheritance||-|
|Broad nasal tip||-|
|Deeply set eye||-|
|Depressed nasal bridge||-|
|Elevated hepatic transaminases||-|
|Elevated serum creatine phosphokinase||-|
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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. Submit a new question
I am the parent of a child with GSD type III. I would love to receive any information about the disease, treatments being done, research studies, etc. Thank you for your time. See answer
My son has been diagnosed with GSD type 3 based on liver biopsy. Is there another test to confirm this diagnosis? Are there any treatments available? See answer