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|
Low number of red blood cells or hemoglobin
Tiredness[ more ]
Increased spleen size
|30%-79% of people have these symptoms|
Pain in stomach
Stomach pain[ more ]
Death of bone due to decreased blood supply
Grand mal seizures
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 myoclonic seizure||0002123|
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|
Scar tissue replaces healthy tissue in the liver
|Cranial nerve paralysis||0006824|
|Death in infancy||
Lethal in infancy[ more ]
Hearing defect[ more ]
Blood in urine
Paralysis or weakness of one side of body
Too much cerebrospinal fluid in the brain
|Increased bone mineral density||
Increased bone density
Stiff joints[ more ]
|Mitral valve calcification||0004382|
Low or weak muscle tone
Degenerative joint disease
Breakdown of bone
Low blood cell count
High urine protein levels
Protein in urine[ more ]
Increased blood pressure in blood vessels of lungs
Noninflammatory retina disease
Decreased body height
Small stature[ more ]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other lysosomal storage disorders. The presence of Gaucher-like cells can be found in certain hematologic diseases (lymphoma, Hodgkin's lymphoma and chronic lymphocytic leukemia; see these terms).
Visit the Orphanet disease page for more information.
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.
Rare Disease Day at NIH 2021
March 1, 2021
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.