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 |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Abnormal pattern of respiration |
Abnormal respiratory patterns
Unusual breathing patterns
[ more ]
|
0002793 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| 0001332 | ||
| 0001298 | ||
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
| 0001257 | ||
| Splenomegaly |
Increased spleen size
|
0001744 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| 30%-79% of people have these symptoms | ||
| Cough |
Coughing
|
0012735 |
| Flexion |
0001371 | |
| Generalized myoclonic |
0002123 | |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
| 5%-29% of people have these symptoms | ||
| Cardiac arrest | 0001695 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0001903 | ||
| Apnea | 0002104 | |
| 0000007 | ||
| Bulbar signs | 0002483 | |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Esotropia |
Inward turning cross eyed
|
0000565 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Global |
0001263 | |
| Hyperreflexia |
Increased reflexes
|
0001347 |
| Oculomotor apraxia | 0000657 | |
| Progressive neurologic deterioration | 0002344 | |
| Protuberant abdomen | 0001538 | |
| Recurrent aspiration pneumonia | 0002100 | |
| Rigidity |
Muscle rigidity
|
0002063 |
| Seizures |
Seizure
|
0001250 |
|
Low platelet count
|
0001873 | |
| Trismus | 0000211 | |
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.
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.
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.
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 type 2. 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.
