liver disease, severe congenital
MONDO:0859273Mondo
Findings
No curated finding names liver disease, severe congenital 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
- Congenital onset · Infantile onset · Juvenile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
100 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.
- Abdominal distentionHPOHP:0003270
- 11 of 14 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 10 of 14 reported patients
- Failure to thriveHPOHP:0001508
- 10 of 14 reported patients
- HepatomegalyHPOHP:0002240
- 10 of 14 reported patients
- SplenomegalyHPOHP:0001744
- 10 of 14 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 9 of 14 reported patients
- DiarrheaHPOHP:0002014
- 8 of 14 reported patients
- Abnormal hepatic echogenicityHPOHP:0031142
- 7 of 14 reported patients
- Abnormality of coagulationHPOHP:0001928
- 7 of 14 reported patients
- Elevated circulating alpha-fetoprotein concentrationHPOHP:0006254
- 6 of 14 reported patients
- Feeding difficultiesHPOHP:0011968
- 6 of 14 reported patients
- Hepatic failureHPOHP:0001399
- 6 of 14 reported patients
Show the remaining 88
- Inguinal herniaHPOHP:0000023
- 6 of 14 reported patients
- AnemiaHPOHP:0001903
- 5 of 14 reported patients
- HyperbilirubinemiaHPOHP:0002904
- 5 of 14 reported patients
- Hyperinsulinemic hypoglycemiaHPOHP:0000825
- 5 of 14 reported patients
- Increased circulating ferritin concentrationHPOHP:0003281
- 5 of 14 reported patients
- Intrahepatic cholestasisHPOHP:0001406
- 5 of 14 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.
- FOCADHGNC:23377
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of