NPHP1 deletion syndrome (WP5399)

Homo sapiens

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Mutations or loss of NPHP1 cause nephronophthisis (NPHP), a rare genetic disorder. Due to the involvement of NPHP1 in ciliary function and cellular orientation in kidney, the main symptoms of the disorder are found in kidney development and function. Howevre, as in many ciliopathies, neuronal functions are also affected, causing psychiatric disorders.

Authors

Friederike Ehrhart , Eric Weitz , and Egon Willighagen

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Cell Type Ontology

kidney cell

Disease Ontology

disease of mental health nephronophthisis 3 nephronophthisis ciliopathy kidney disease

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
MAPK1 GeneProduct ensembl:ENSG00000100030
RPGRIP1L GeneProduct ensembl:ENSG00000103494
BCAR1 GeneProduct ensembl:ENSG00000050820 CAS, CAS1, CASS1, CRKAS, P130Cas
MAPK3 GeneProduct ensembl:ENSG00000102882
NPHP4 GeneProduct ensembl:ENSG00000131697
FLNB GeneProduct ensembl:ENSG00000136068
FLNA GeneProduct ensembl:ENSG00000196924
INVS GeneProduct ensembl:ENSG00000119509
PTK2B GeneProduct ensembl:ENSG00000120899 PYK2
FLNC GeneProduct ensembl:ENSG00000128591
NPHP1 GeneProduct ensembl:ENSG00000144061

References

  1. Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells. Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK. Exp Cell Res. 2000 Apr 10;256(1):168–78. PubMed Europe PMC Scholia
  2. Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2. Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G. Proc Natl Acad Sci U S A. 2001 Aug 14;98(17):9784–9. PubMed Europe PMC Scholia
  3. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Otto EA, Schermer B, Obara T, O’Toole JF, Hiller KS, Mueller AM, et al. Nat Genet. 2003 Aug;34(4):413–20. PubMed Europe PMC Scholia