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 | ||
Enlarged kidney |
Large kidneys
|
0000105 |
0000822 | ||
Periportal fibrosis | 0001405 | |
Polycystic kidney dysplasia | 0000113 | |
30%-79% of people have these symptoms | ||
Abnormality of the intrahepatic bile duct | 0011040 | |
Biliary hyperplasia | 0006560 | |
Excessive buildup of connective tissue and scarring of liver at birth
|
0002612 | |
Elevated gamma-glutamyltransferase level | 0030948 | |
Esophageal varix |
Enlarged vein in esophagus
|
0002040 |
Fat malabsorption | 0002630 | |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
Hypersplenism | 0001971 | |
Hyponatremia |
Low blood sodium levels
|
0002902 |
Increased serum bile acid concentration | 0012202 | |
Low levels of vitamin A |
Vitamin A deficiency
|
0004905 |
Low levels of vitamin D |
Deficient in vitamin D
Vitamin D deficiency
[ more ]
|
0100512 |
Low levels of vitamin E |
Vitamin E deficiency
|
0100513 |
Low levels of vitamin K | 0011892 | |
Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
Portal hypertension | 0001409 | |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
Reduced renal corticomedullary differentiation | 0005565 | |
Respiratory failure | 0002878 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Stage 5 chronic |
0003774 | |
5%-29% of people have these symptoms | ||
Acute kidney injury | 0001919 | |
Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
Cholangitis |
Bile duct inflammation
|
0030151 |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Hepatoblastoma | 0002884 | |
Enlarged liver and spleen
|
0001433 | |
Hypoventilation |
Slow breathing
Under breathing
[ more ]
|
0002791 |
Yellow skin
Yellowing of the skin
[ more ]
|
0000952 | |
Neonatal death |
Neonatal lethal
|
0003811 |
Oliguria | 0100520 | |
Polydipsia |
Extreme thirst
|
0001959 |
0002243 | ||
Recurrent pneumonia | 0006532 | |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ]
|
0000010 |
Low platelet count
|
0001873 | |
1%-4% of people have these symptoms | ||
Abnormality of limbs |
Abnormal limbs
|
0040064 |
Cholangiocarcinoma |
Bile duct cancer
|
0030153 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Pancreatic cysts | 0001737 | |
Spontaneous pneumothorax |
Spontaneous collapsed lung
|
0002108 |
Percent of people who have these symptoms is not available through HPO | ||
Absence of renal corticomedullary differentiation | 0005564 | |
0000007 | ||
Dehydration | 0001944 | |
Hepatic cysts |
Liver cysts
|
0001407 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Potter facies | 0002009 | |
Renal cyst |
Kidney cyst
|
0000107 |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ]
|
0000083 |
Tubulointerstitial fibrosis | 0005576 |
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.
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
|
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Main differential diagnoses are other hereditary cystic kidney diseases including autosomal dominant polycystic kidney disease, HNF1ß-associated cystic nephropathies, diffuse cystic dysplasia and nephronophthisis, as well as rare metabolic diseases such as glutaric aciduria type II.
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.
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
I have had three stillborns with autosomal recessive polycystic kidney disease. Is this disease curable? What are my options for future pregnancies? See answer