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Nephronophthisis, familial juvenile MeSH Supplementary Concept Data 2023


MeSH Supplementary
Nephronophthisis, familial juvenile
Unique ID
C537699
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537699
Entry Term(s)
Juvenile nephronophthisis
Nephronophthisis 1
Type 1 nephronophthisis
Registry Number
0
Heading Mapped to
Kidney Diseases, Cystic / *congenital
Frequency
88
Note
A hereditary, autosomal recessive cystic kidney disease that leads to RENAL FAILURE in childhood or adolescence. It is the most frequent genetic cause of renal failure in children and is characterized by ANEMIA; POLYURIA; POLYDYPSIA, and isosthenuria; extrarenal manifestations may include, LIVER FIBROSIS; SITUS INVERSUS, and cardiac malformations. Mutations in the NPHP1 gene have been identified. OMIM: 256100
Date of Entry
2010/08/25
Revision Date
2015/08/18
Nephronophthisis, familial juvenile Preferred
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