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 | ||
Bone marrow hypocellularity |
Bone marrow failure
|
0005528 |
Elevated lactate:pyruvate ratio | 0032653 | |
Hyperalaninemia |
Increased blood alanine
Increased serum alanine
[ more ]
|
0003348 |
Lacticaciduria |
High urine lactic acid levels
|
0003648 |
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ]
|
0001875 |
Reticulocytosis |
Increased immature red blood cells
Increased number of immature red blood cells
[ more ]
|
0001923 |
Severe infection | 0032169 | |
30%-79% of people have these symptoms | ||
Anemia |
Low number of red blood cells or hemoglobin
|
0001903 |
Disease of the heart muscle
|
0001638 | |
Corneal stromal edema | 0012040 | |
Exocrine pancreatic insufficiency |
Inability to properly digest food due to lack of pancreatic digestive enzymes
|
0001738 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Increased CSF lactate | 0002490 | |
Increased serum lactate | 0002151 | |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ]
|
0000083 |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
Splenomegaly |
Increased spleen size
|
0001744 |
Thrombocytopenia |
Low platelet count
|
0001873 |
5%-29% of people have these symptoms | ||
0001251 | ||
Cardiac conduction abnormality | 0031546 | |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Chronic diarrhea | 0002028 | |
Decreased serum bicarbonate concentration | 0032066 | |
Dehydration | 0001944 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
0000819 | ||
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Global |
0001263 | |
Glycosuria |
Glucose in urine
|
0003076 |
Growth hormone deficiency | 0000824 | |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hepatic failure |
Liver failure
|
0001399 |
Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ]
|
0001397 |
Hydrops fetalis | 0001789 | |
Hypocalcemia |
Low blood calcium levels
|
0002901 |
Hypokalemia |
Low blood potassium levels
|
0002900 |
Hypomagnesemia |
Low blood magnesium levels
|
0002917 |
Hypophosphatemia |
Low blood phosphate level
|
0002148 |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Lactic acidosis |
Increased lactate in body
|
0003128 |
Malabsorption of Vitamin B12 | 0200118 | |
Muscular |
Low muscle tone in trunk
|
0008936 |
Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
Pancreatic fibrosis | 0100732 | |
Pancytopenia |
Low blood cell count
|
0001876 |
Pigmentary retinopathy | 0000580 | |
Poor suck |
Poor sucking
|
0002033 |
High urine protein levels
Protein in urine
[ more ]
|
0000093 | |
Drooping upper eyelid
|
0000508 | |
0001250 | ||
Steatorrhea |
Fat in feces
|
0002570 |
1%-4% of people have these symptoms | ||
Adrenal insufficiency | 0000846 | |
Cafe-au-lait spot | 0000957 | |
Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ]
|
0000992 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Hypoparathyroidism |
Decreased parathyroid hormone secretion
|
0000829 |
Hypoplastic spleen |
Underdeveloped spleen
|
0006270 |
Macronodular cirrhosis | 0006577 | |
Median |
Central cleft lip and palate
Midline cleft lip/palate
[ more ]
|
0008501 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Renal cyst |
Kidney cyst
|
0000107 |
Percent of people who have these symptoms is not available through HPO | ||
3-Methylglutaric aciduria | 0003344 | |
Complex organic aciduria | 0008336 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Malabsorption |
Intestinal malabsorption
|
0002024 |
0001427 | ||
Refractory sideroblastic anemia | 0004864 | |
Renal Fanconi syndrome | 0001994 | |
Type I diabetes mellitus |
Type 1 diabetes
Type I diabetes
[ more ]
|
0100651 |
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.
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.