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Disease Profile
Congenital nephrotic syndrome Finnish type
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
N04.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Nephrosis 1, congenital, Finnish type; Congenital nephrotic syndrome 1; Nephrosis, congenital;
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases
Summary
Symptoms
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 renal tubule morphology | 0000091 | |
Delayed eruption of permanent teeth |
Delayed eruption of adult teeth
|
0000696 |
Elevated amniotic fluid |
0004639 | |
Nephrotic |
0000100 | |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Percent of people who have these symptoms is not available through HPO | ||
Abdominal distention |
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ] |
0003270 |
0000007 | ||
0008677 | ||
Congenital onset |
Symptoms present at birth
|
0003577 |
Diffuse mesangial sclerosis | 0001967 | |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Glomerular sclerosis | 0000096 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Hyperlipidemia |
Elevated lipids in blood
|
0003077 |
Hypoalbuminemia |
Low blood albumin
|
0003073 |
Hypoproteinemia |
Decreased protein levels in blood
|
0003075 |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Neonatal respiratory distress |
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ] |
0002643 |
Pyloric stenosis | 0002021 | |
Rapidly progressive |
Worsening quickly
|
0003678 |
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] |
0002719 |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
Renal tubular atrophy | 0000092 | |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
Diagnosis
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.
Testing Resources
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Related diseases
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 forms of early onset nephrotic syndrome, including Denys Drash syndrome, Pierson syndrome, Galloway Mowat syndrome, Schimke immuno-osseous dysplasia and congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization.
Visit the Orphanet disease page for more information.
|
Organizations
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.
Organizations Providing General Support
-
American Kidney Fund (AKF)
11921 Rockville Pike
Suite 300
Rockville, MD 20852
Toll-free: 866-300-2900
E-mail: [email protected]
Website: https://www.kidneyfund.org -
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Toll-free: 800-622-9010
Telephone: 212-889-2210
Fax: 212-689-9261
E-mail: [email protected]
Website: https://www.kidney.org/ -
The Kidney Foundation of Canada
700-15 Gervais Drive
Toronto Ontario M3C 1Y8
Canada
Toll-free: 800-387-4474
Telephone: 416-445-0373
Fax: 416-445-7440
E-mail: [email protected]
Website: https://www.kidney.on.ca
Learn more
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.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Congenital nephrotic syndrome Finnish type. This website is maintained by the National Library of Medicine.
In-Depth Information
- The Merck Manual for health care professionals provides information on Congenital nephrotic syndrome Finnish type.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital nephrotic syndrome Finnish type. Click on the link to view a sample search on this topic.
References
- Lee BH, Ahn YH, Choi HJ, Kang HK, Kim S, Cho B et al. Two Korean Infants with Genetically Confirmed Congenital Nephrotic Syndrome of Finnish Type. J Korean Med Sci. 2009; 24(Suppl 1):S210-4. https://jkms.org/Synapse/Data/PDFData/0063JKMS/jkms-24-S210.pdf.
- Lidvana Spahiu, Besart Merovci, Haki Jashari, Arbnore Batalli Këpuska, Blerta Elezi Rugova. Congenital Nephrotic Syndrome – Finish Type. Med Arch. June 2016; 70(3):232-234. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010061/.
- Niaudet, P. Congenital nephrotic syndrome, Finnish type. Orphanet. February 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=839. Accessed 12/6/2016.