Nephronophthisis 9

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

NPHP3, INVS, NPHP1, NPHP4, GLIS2, NEK8, WDR19, ANKS6, TMEM67, TTC21B, XPNPEP3, AHI1, SLC41A1, ATXN10, CNTRL, WWTR1, TMEM218, CEP290, RPGRIP1L, IQCB1, DCDC2, TRAF3IP1, ZNF423, MAPKBP1, CEP164, SDCCAG8, IFT140, NPHP3-ACAD11, PKHD1, CC2D2A, DYNC2LI1, NPHP3-AS1, FAM186B, DYNC2H1, WDR34, TTC21B-AS1, IFT43, IFT80, TMEM216, WDR60, CEP120, INTU, PAM16, RBM48, CEP83, IFT172, PRPF40B, UMOD, FAN1, INCENP, PIAS1, MUC1, NXPH1, ANPEP, BCL2, MKS1, ACTN4, MKKS, MALL, CYS1, DAP, SLC22A12, ANKS3, SCLT1, PACRG, CTNNB1, GLIS3, COL4A1, TIMM8A, RCC1, CDK5, AATF, AVPR2, AGXT, LINC01672, ALDH3A2, ACE, FN1, WT1, IL1A, VIM, MLRL, TNF, ADAMTS9, RPGRIP1, TIMP2, HNF1B, HNF1A, SLC4A1, PAX2, TINAG, MLYCD, TCTN2, KIF3A, IL1B, CSPP1

Drugs

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A number sign (#) is used with this entry because of evidence that nephronophthisis-9 can be caused by homozygous mutation in the NEK8 gene (609799) on chromosome 17q11.

Description

Nephronophthisis (NPHP) is an autosomal recessive kidney disease that leads to kidney cyst formation and progressive renal failure. NPHP is the most frequent genetic cause of end-stage renal failure in the first 3 decades of life (summary by Otto et al., 2008).

For a general description and a discussion of genetic heterogeneity of NPHP, see NPHP1 (256100).

Clinical Features

Otto et al. (2008) reported a Kurdish patient, born of consanguineous parents, with nephronophthisis. The patient had end-stage renal failure at age 3 years with microcysts on renal biopsy. There was no ocular involvement.

Molecular Genetics

In 1 of 188 patients with nephronophthisis, Otto et al. (2008) identified a homozygous mutation in the NEK8 gene (609799.0001). NEK8 mutations were not identified in 400 additional patients with NPHP, indicating that NEK8 mutations are a very rare cause of the disorder.