renal-hepatic-pancreatic dysplasia 1
MONDO:0008833Mondo
Findings
No curated finding names renal-hepatic-pancreatic dysplasia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.
Definition from the Mondo Disease Ontology (MONDO:0008833), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal death
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CirrhosisHPOHP:0001394
- 2 of 2 reported patients
- Hyperechogenic pancreasHPOHP:0006276
- 1 of 1 reported patient
- Renal insufficiencyHPOHP:0000083
- 2 of 2 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 2 of 2 reported patients
- Malformation of the hepatic ductal plateHPOHP:0006563
- 2 of 3 reported patients
- Polycystic kidney dysplasiaHPOHP:0000113
- 2 of 3 reported patients
- HepatomegalyHPO
Show the remaining 1
- Situs inversus totalisHPOHP:0001696
- 1 of 3 reported patients
Where it sits
- A kind of
Other names
3 names
Resolves to: renal-hepatic-pancreatic dysplasia 1
- Also called
- NPHP3 renal-hepatic-pancreatic dysplasiarenal-hepatic-pancreatic dysplasia caused by mutation in NPHP3renal-hepatic-pancreatic dysplasia type 1