Preferred Label : Nephronophthisis 1;
Symbol : NPHP1;
CISMeF acronym : NPHP1; NPH1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Nephronophthisis, familial juvenile; NPH1;
Description : Nephronophthisis is an 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. NPHP may be combined with extrarenal manifestations, such as
liver fibrosis, situs inversus, or cardiac malformations. When nephronophthisis is
combined with retinitis pigmentosa, the disorder is known as Senior-Loken syndrome
(SLSN1; 266900); when it is combined with cerebellar vermis hypoplasia, the disorder
is known as Joubert syndrome (JBTS1; 213300); and when it is combined with multiple
developmental and neurologic abnormalities, the disorder is often known as Meckel-Gruber
syndrome (MKS1; 249000). Because most NPHP gene products localize to the cilium or
its associated structures, nephronophthisis and the related syndromes have been termed
'ciliopathies' (summary by Hoff et al., 2013). Clinical features of familial juvenile
nephronophthisis include anemia, polyuria, polydipsia, isosthenuria, and death in
uremia. Simms et al. (2009) provided a detailed review of nephronophthisis, including
a discussion of clinical features and molecular genetics. - Genetic Heterogeneity
of Nephronophthisis;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the nephrocystin 1 gene (NPHP1, 607100.0001);
Laboratory abnormalities : Hyposthenuria (inability to concentrate urine normally);
Prefixed ID : #256100;
Origin ID : 256100;
UMLS CUI : C1855681;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
