polycystic kidney disease 8
MONDO:0971178Mondo
Findings
No curated finding names polycystic kidney disease 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Late onset · Infantile onset · Middle age onset · Juvenile onset · Neonatal onset · Fetal onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
12 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.
- Focal segmental glomerulosclerosisHPOHP:0000097
- 2 of 2 reported patients
- Hyperechogenic kidneysHPOHP:0004719
- 1 of 1 reported patient
- Left ventricular hypertrophyHPOHP:0001712
- 2 of 2 reported patients
- PolydipsiaHPOHP:0001959
- 1 of 1 reported patient
- PolyuriaHPOHP:0000103
- 1 of 1 reported patient
- Renal insufficiencyHPOHP:0000083
- 1 of 1 reported patient
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 13 of 14 reported patients
- HypertensionHPOHP:0000822
- 16 of 20 reported patients
- Enlarged kidneyHPOHP:0000105
- 14 of 20 reported patients
- NephronophthisisHPOHP:0000090
- 2 of 3 reported patients
- Short statureHPOHP:0004322
- 2 of 19 reported patients
- Hepatic cystsHPOHP:0001407
- 2 of 20 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
- Moderate · Ambry Genetics · Autosomal dominant · 2024