progeroid features-hepatocellular carcinoma predisposition syndrome
MONDO:0014527Mondo
Findings
No curated finding names progeroid features-hepatocellular carcinoma predisposition syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
14 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.
- Decreased body weightHPOHP:0004325
- 3 of 3 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 3 of 3 reported patients
- Hepatocellular carcinomaHPOHP:0001402
- 3 of 3 reported patients
- LipodystrophyHPOHP:0009125
- 2 of 2 reported patients
- MicrognathiaHPOHP:0000347
- 3 of 3 reported patients
- Single transverse palmar creaseHPOHP:0000954
- 3 of 3 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 2 of 2 reported patients
- Triangular faceHPOHP:0000325
- 3 of 3 reported patients
- CataractHPOHP:0000518
- 1 of 3 reported patients
- Premature graying of hairHPOHP:0002216
- 1 of 3 reported patients
- Short statureHPOHP:0004322
- 1 of 3 reported patients
- HypogonadismHPOHP:0000135
- 0 of 3 reported patients
Show the remaining 2
- OsteoporosisHPOHP:0000939
- 0 of 3 reported patients
- Sparse hairHPOHP:0008070
- 0 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.
- SPRTNHGNC:25356
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · G2P · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: progeroid features-hepatocellular carcinoma predisposition syndrome
- Also called
- Ruijs-Aalfs syndrome