Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

infantile liver failure syndrome 2 (ILFS2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

infantile liver failure syndrome 2

MONDO:0014659

Also known as:ILFS2NBAS infantile liver failureinfantile liver failure caused by mutation in NBAS

Overview

Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.

GeneticsAutosomal recessive · NBAS (chr 2)

OnsetINFANTILE

ResearchLimited published research (7 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 sometimes findings: Seizure and Heart muscle disease (cardiomyopathy). 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	5	Vomiting, Hepatic encephalopathy, Acute hepatic failure
Brain and nerves

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NBAS encodes NBAS subunit of NRZ tethering complex (2,371 aa). Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER. Highest expression in Testis (28.8 TPM) and Cells Cultured fibroblasts (23.7 TPM).

Infantile liver failure syndrome 2 is associated with mutations in the NBAS gene on chromosome 2.

NBAS is classified as a druggable target with score 0.0.

Diagnosis

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

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 2.

7 publications have been identified in PubMed for infantile liver failure syndrome 2. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (29%), and Other (14%).

Recent Publications

Hu A (2025). [PMID: 41282478](https://pubmed.ncbi.nlm.nih.gov/41282478/). *Front Genet*. [Other]
Li S (2025). [PMID: 39779337](https://pubmed.ncbi.nlm.nih.gov/39779337/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Peters B (2025). [PMID: 40433928](https://pubmed.ncbi.nlm.nih.gov/40433928/). *Liver Int*. [Epidemiology / Natural History]
Nuzhnaya Е (2025). [PMID: 41057908](https://pubmed.ncbi.nlm.nih.gov/41057908/). *Hum Genomics*. [Case Report / Case Series]
Silverstein S (2025). [PMID: 40215727](https://pubmed.ncbi.nlm.nih.gov/40215727/). *Mol Genet Metab*. [Case Report / Case Series]
Hu A (2025). [PMID: 41132786](https://pubmed.ncbi.nlm.nih.gov/41132786/). *Front Genet*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616483

GARD

Genetic and Rare Diseases Info Center

GARD:13113

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?

← Back to All Diseases

infantile liver failure syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features