renal-hepatic-pancreatic dysplasia 2
Findings
No curated finding names renal-hepatic-pancreatic dysplasia 2 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 NEK8 gene.
Definition from the Mondo Disease Ontology (MONDO:0014174), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Stillbirth · Second trimester onset
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.
- Enlarged cisterna magnaHPOHP:0002280
- 1 of 1 reported patient
- Femoral bowingHPOHP:0002980
- 3 of 3 reported patients
- Malformation of the hepatic ductal plateHPOHP:0006563
- 2 of 2 reported patients
- Cystic renal dysplasiaHPOHP:0000800
- 3 of 4 reported patients
- OligohydramniosHPOHP:0001562
- 3 of 4 reported patients
- Enlarged kidneyHPOHP:0000105
- 2 of 3 reported patients
- Hepatic cystsHPOHP:0001407
Show the remaining 1
- Talipes equinovarusHPOHP:0001762
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NEK8HGNC:13387
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: renal-hepatic-pancreatic dysplasia 2
- Also called
- NEK8 renal-hepatic-pancreatic dysplasiarenal-hepatic-pancreatic dysplasia caused by mutation in NEK8renal-hepatic-pancreatic dysplasia type 2