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infantile liver failure syndrome 3 (ILFS3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

infantile liver failure syndrome 3

MONDO:0032844

Also known as:ILFS3

Overview

GeneticsAutosomal recessive · RINT1 (chr 7)

OnsetINFANTILE, CONGENITAL

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: Enlarged liver (hepatomegaly), Abnormality of the epiphysis of the femoral head, Prolonged prothrombin time, and Hypoplastic vertebral bodies and others; and common findings: Hepatic steatosis, Talipes equinovarus, Abnormal acetabulum morphology, and Hepatic bridging fibrosis and others. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	9

Genetic Landscape

RINT1 function has not been fully characterized.

Infantile liver failure syndrome 3 is associated with mutations in the RINT1 gene on chromosome 7.

Diagnosis

Genetic testing for RINT1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 6 common features.

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 infantile liver failure syndrome 3.

10 publications have been identified in PubMed for infantile liver failure syndrome 3. Research spans Case Report / Case Series (60%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Patient case studies	6	60%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618641

GARD

Genetic and Rare Diseases Info Center

GARD:16483

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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infantile liver failure syndrome 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

infantile liver failure syndrome 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications