Trait
Nephronophthisis
Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.
Summary
- Also called
- juvenile nephronophthisis
- Body system
- Abnormality of the genitourinary system
Reference genomeGRCh38hg38
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Get my Genome Test36 genes linked to Nephronophthisis
Changes in these genes cause rare conditions in which Nephronophthisis is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| CEP83centrosomal protein 83 | Always | In 1 condition |
| FAN1FANCD2 and FANCI associated nuclease 1 | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 2 conditions |
| IFT43intraflagellar transport 43 | Always | In 1 condition |
| MAPKBP1mitogen-activated protein kinase binding protein 1 | Always | In 1 condition |
| NEK8NIMA related kinase 8 | Always | In 2 conditions |
| NPHP1nephrocystin 1 | Always | In 4 conditions |
| NPHP3nephrocystin 3 | Always | In 2 conditions |
| RPGRIP1LRPGRIP1 like | Always | In 2 conditions |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Always | In 2 conditions |
| TMEM67transmembrane protein 67 | Always | In 5 conditions |
| WDR19WD repeat domain 19 | Always | In 4 conditions |
| XPNPEP3X-prolyl aminopeptidase 3 | Always | In 1 condition |
| CEP164centrosomal protein 164 | Very often (80–99%) | In 2 conditions |
| IFT54intraflagellar transport 54 | Very often (80–99%) | In 2 conditions |
| CEP290centrosomal protein 290 | Often (30–79%) | In 2 conditions |
| DCDC2doublecortin domain containing 2 | Often (30–79%) | In 1 condition |
| INVSinversin | Often (30–79%) | In 2 conditions |
| IQCB1IQ motif containing B1 | Often (30–79%) | In 2 conditions |
| NPHP4nephrocystin 4 | Often (30–79%) | In 3 conditions |
| CEP120centrosomal protein 120 | Sometimes (5–29%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I1dynein 2 intermediate chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Sometimes (5–29%) | In 1 condition |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Sometimes (5–29%) | In 1 condition |
| IFT172intraflagellar transport 172 | Sometimes (5–29%) | In 2 conditions |
| IFT80intraflagellar transport 80 | Sometimes (5–29%) | In 1 condition |
| KIAA0753KIAA0753 | Sometimes (5–29%) | In 1 condition |
| TMEM138transmembrane protein 138 | Sometimes (5–29%) | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Sometimes (5–29%) | In 1 condition |
| TTC21Btetratricopeptide repeat domain 21B | Sometimes (5–29%) | In 2 conditions |
| AHI1Abelson helper integration site 1 | Not recorded | In 1 condition |
| ANKS6ankyrin repeat and sterile alpha motif domain containing 6 | Not recorded | In 1 condition |
| GLIS2GLIS family zinc finger 2 | Not recorded | In 1 condition |
| TMEM216transmembrane protein 216 | Not recorded | In 1 condition |
| ZNF423zinc finger protein 423 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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