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|
Pain in stomach
Stomach pain[ more ]
Low number of red blood cells or hemoglobin
|Congestive heart failure||
Heart failure[ more ]
Tiredness[ more ]
Blood in urine
Decreased ability to sweat
Sweating, decreased[ more ]
Muscle pain[ more ]
Renal failure in adulthood[ more ]
Firm lump under the skin
|Telangiectasia of the skin||0100585|
|Transient ischemic attack||
|30%-79% of people have these symptoms|
|Abnormal aortic valve morphology||0001646|
|Abnormality of the renal tubule||0000091|
|Bundle branch block||0011710|
Clouding of the lens of the eye
Cloudy lens[ more ]
|Coarse facial features||
Coarse facial appearance
Abnormality of cognition
Mental impairment[ more ]
Delayed pubertal development
Delayed pubertal growth
Pubertal delay[ more ]
|Nausea and vomiting||0002017|
High urine protein levels
Protein in urine[ more ]
Decreased body height
Small stature[ more ]
|Thick lower lip vermilion||
Increased volume of lower lip
Plump lower lip
Prominent lower lip[ more ]
|5%-29% of people have these symptoms|
|Abnormal endocardium morphology||0004306|
|Abnormality of femur morphology||
Abnormality of the thighbone
Excessive, persistent worry and fear
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat[ more ]
|Chronic obstructive pulmonary disease||0006510|
Loss of developmental milestones
Mental deterioration in childhood[ more ]
Enlarged and thickened heart muscle
|Left ventricular hypertrophy||0001712|
|Reduced bone mineral density||0004349|
|Sensorineural hearing impairment||0000407|
|Percent of people who have these symptoms is not available through HPO|
|Abnormal autonomic nervous system physiology||0012332|
|Abnormality of the hand||
Hand deformities[ more ]
|Left ventricular septal hypertrophy||0005144|
|Obstructive lung disease||0006536|
Pins and needles feeling
Tingling[ more ]
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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
In childhood, other possible causes of pain such as rheumatoid arthritis and "growing pains" must be ruled out. In adulthood, multiple sclerosis is sometimes considered.
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.
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.
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
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
Are there any lifestyle or dietary changes that can have a beneficial effect on the life of Fabry sufferers? See answer
Will Fabry disease affect a transplanted kidney? Previous to the transplant the disease was being managed with an enzyme supplement. Will the enzyme supplement need to be continued? What are, if any, cautions or additional treatments required to manage the disease with a transplanted kidney? See answer
Can women get Fabry disease? See answer