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progeroid features-hepatocellular carcinoma predisposition syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

progeroid features-hepatocellular carcinoma predisposition syndrome

MONDO:0014527

Also known as:Ruijs-Aalfs syndromeRJALS

Overview

GeneticsAutosomal recessive · SPRTN (chr 1)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased body weight, Single transverse palmar crease, Lipodystrophy, and Hepatocellular carcinoma and others; and common findings: Short stature, Cataract, and Premature graying of hair. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Weak and brittle bones (osteoporosis), Skeletal muscle atrophy, Delayed skeletal maturation

Genetic Landscape

SPRTN function has not been fully characterized.

Progeroid features-hepatocellular carcinoma predisposition syndrome is associated with mutations in the SPRTN gene on chromosome 1.

Diagnosis

Genetic testing for SPRTN is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for progeroid features-hepatocellular carcinoma predisposition syndrome.

3 publications have been identified in PubMed for progeroid features-hepatocellular carcinoma predisposition syndrome. Research spans Review / Meta-Analysis (67%) and Basic Science / Preclinical (33%).

Recent Publications

Dürauer S (2025). [PMID: 40691134](https://pubmed.ncbi.nlm.nih.gov/40691134/). *Nat Commun*. [Basic Science / Preclinical]
Foss-Freitas M (2025). [PMID: 40835790](https://pubmed.ncbi.nlm.nih.gov/40835790/). *Curr Diab Rep*. [Review / Meta-Analysis]
Blouin T (2024). [PMID: 39328207](https://pubmed.ncbi.nlm.nih.gov/39328207/). *Front Oncol*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616200

Orphanet

European rare disease database

Orphanet:435953

GARD

Genetic and Rare Diseases Info Center

GARD:17722

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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progeroid features-hepatocellular carcinoma predisposition syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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