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transient familial neonatal hyperbilirubinemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

transient familial neonatal hyperbilirubinemia

MONDO:0009383

Also known as:Lucey-Driscoll syndromehyperbilirubinemia, familial transient neonatalHBLRTFN

Overview

GeneticsAutosomal recessive · UGT1A1 (chr 2)

ResearchLimited published research (5 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: Kernicterus, Neonatal unconjugated hyperbilirubinemia, and Jaundice.

Organ System	Phenotype Count	Example Features
Lab test results	1	Neonatal unconjugated hyperbilirubinemia
Pregnancy and birth

Genetic Landscape

UGT1A1 function has not been fully characterized.

Transient familial neonatal hyperbilirubinemia is associated with mutations in the UGT1A1 gene on chromosome 2.

Diagnosis

Genetic testing for UGT1A1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 transient familial neonatal hyperbilirubinemia.

5 publications have been identified in PubMed for transient familial neonatal hyperbilirubinemia. Research spans Basic Science / Preclinical (40%), Review / Meta-Analysis (20%), and Case Report / Case Series (20%).

Recent Publications

Hao N (2026). [PMID: 41691317](https://pubmed.ncbi.nlm.nih.gov/41691317/). *Hum Genomics*. [Basic Science / Preclinical]
Hu AY (2025). [PMID: 40624797](https://pubmed.ncbi.nlm.nih.gov/40624797/). *Archives of pathology & laboratory medicine*. [Case Report / Case Series]
Falke M (2025). [PMID: 40068902](https://pubmed.ncbi.nlm.nih.gov/40068902/). *Neonatal network : NN*. [Review / Meta-Analysis]
El-Karaksy H (2025). [PMID: 41165782](https://pubmed.ncbi.nlm.nih.gov/41165782/). *Hum Genet*. [Basic Science / Preclinical]
Zhang R (2024). [PMID: 38778310](https://pubmed.ncbi.nlm.nih.gov/38778310/). *BMC Pediatr*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:237900

Orphanet

European rare disease database

Orphanet:2312

GARD

Genetic and Rare Diseases Info Center

GARD:2791

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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transient familial neonatal hyperbilirubinemia

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

Questions for Your Care Team

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