hepatorenocardiac degenerative fibrosis
MONDO:0859254Mondo
Findings
No curated finding names hepatorenocardiac degenerative fibrosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
16 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.
- Renal interstitial fibrosisHPOHP:0032948
- 1 of 1 reported patient
- Tubular luminal dilatationHPOHP:0032622
- 1 of 1 reported patient
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 10 of 15 reported patients
- Portal hypertensionHPOHP:0001409
- 10 of 15 reported patients
- HepatosplenomegalyHPOHP:0001433
- 9 of 15 reported patients
- Renal cystHPOHP:0000107
- 7 of 14 reported patients
- CirrhosisHPOHP:0001394
- 7 of 15 reported patients
- Hyperechogenic kidneysHPOHP:0004719
- 6 of 14 reported patients
- Hepatic bridging fibrosisHPOHP:0012852
- 5 of 15 reported patients
- Enlarged kidneyHPOHP:0000105
- 4 of 14 reported patients
- Reduced renal corticomedullary differentiationHPOHP:0005565
- 3 of 14 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 3 of 15 reported patients · Adult onset
Show the remaining 4
- Hepatic encephalopathyHPOHP:0002480
- 2 of 15 reported patients
- HypersplenismHPOHP:0001971
- 2 of 15 reported patients
- Hepatocellular carcinomaHPOHP:0001402
- 1 of 15 reported patients · Young adult onset
- JaundiceHPOHP:0000952
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.
- TULP3HGNC:12425
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of