NPHP19
MCID: NPH077
MIFTS: 38
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Nephronophthisis 19 (NPHP19)
Categories:
Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Nephronophthisis 19:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
two unrelated patients have been reported (last curated february 2015) onset of liver involvement in infancy HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Nephrological diseases Liver diseases Neuronal diseases |
UniProtKB/Swiss-Prot :
73
Nephronophthisis 19: A form of nephronophthisis, an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease. NPHP19 patients also manifest hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts, focal bile ductal proliferation, ductal plate malformation, and cholestasis.
MalaCards based summary : Nephronophthisis 19, also known as nphp19, is related to sclerosing cholangitis, neonatal and deafness, autosomal recessive 66. An important gene associated with Nephronophthisis 19 is DCDC2 (Doublecortin Domain Containing 2), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney and liver, and related phenotypes are splenomegaly and hepatomegaly Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. |
Human phenotypes related to Nephronophthisis 19:31 (show all 7)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616217MGI Mouse Phenotypes related to Nephronophthisis 19:45
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MalaCards organs/tissues related to Nephronophthisis 19:40
Kidney,
Liver
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Articles related to Nephronophthisis 19:
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ClinVar genetic disease variations for Nephronophthisis 19:6
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Search
GEO
for disease gene expression data for Nephronophthisis 19.
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Cellular components related to Nephronophthisis 19 according to GeneCards Suite gene sharing:(show all 13)
Biological processes related to Nephronophthisis 19 according to GeneCards Suite gene sharing:
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