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||
|80%-99% of people have these symptoms|
Tiredness[ more ]
Increased spleen size
|30%-79% of people have these symptoms|
Pain in stomach
Stomach pain[ more ]
Delayed pubertal development
Delayed pubertal growth
Pubertal delay[ more ]
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
Loss of developmental milestones
Mental deterioration in childhood[ more ]
Swallowing difficulty[ more ]
|Feeding difficulties in infancy||0008872|
|Generalized tonic-clonic seizures||
Grand mal seizures
Recurrent joint dislocations[ more ]
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
Squint eyes[ more ]
Low platelet count
|5%-29% of people have these symptoms|
|Abnormal macular morphology||0001103|
|Abnormal myocardium morphology||0001637|
|Abnormal pericardium morphology||0001697|
|Abnormality of extrapyramidal motor function||0002071|
|Abnormality of skin pigmentation||
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary skin changes
Pigmentation anomaly[ more ]
|Aortic valve calcification||0004380|
|Arthrogryposis multiplex congenita||0002804|
|Cherry red spot of the macula||0010729|
|Cranial nerve paralysis||0006824|
|Death in infancy||
Lethal in infancy[ more ]
Hearing defect[ more ]
Blood in urine
|Increased bone mineral density||
Increased bone density
|Interstitial pulmonary abnormality||0006530|
Stiff joints[ more ]
|Mitral valve calcification||0004382|
Degenerative joint disease
Low blood cell count
High urine protein levels
Protein in urine[ more ]
Noninflammatory retina disease
Decreased body height
Small stature[ more ]
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Learn more orphan products.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Parkinson’s Progression Markers Initiative (PPMI)
February 23, 2017
Gordon Research Conference and Gordon Research Seminar on Lysosomes and Endocytosis
Sunday, June 15, 2014 -
Friday, June 20, 2014
Location: Proctor Academy, Andover, NH
Description: The main goal of the Lysosomes and Endocytosis GRC is to foster the dissemination of current research results and the establishment of new research areas and new collaborations in the area of the cell biology of endocytosis, lysosomes, endosomes and related organelles. We hope that many of these new directions and collaborations will be directed toward the etiology, diagnosis and treatment of rare genetic diseases such as lysosomal storage disorders, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Niemann Pick disease and tuberous sclerosis, among others.
Contact: Alexandra Ainsztein, Ph.D.(301) 594-0828, Alexandra.Ainsztein@nih.gov
Co-funding Institute(s): National Institute of General Medical Sciences, Office of Rare Diseases Research
The following diseases are related to Gaucher disease. If you have a question about any of these diseases, you can contact GARD.
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.