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holoprosencephaly 2 (HPE2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

holoprosencephaly 2

MONDO:0007999

Also known as:HPE2SIX3 holoprosencephalyholoprosencephaly caused by mutation in SIX3

Overview

A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

GeneticsSporadic (not inherited), Autosomal dominant · SIX3 (chr 2)

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 always present findings: Global developmental delay and Hypotelorism; and common findings: Alobar holoprosencephaly, Solitary median maxillary central incisor, Microcephaly, and Bilateral cleft lip and others. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	7	Median cleft upper lip, Solitary median maxillary central incisor, Submucous cleft hard palate

Genetic Landscape

SIX3 function has not been fully characterized.

Holoprosencephaly 2 is associated with mutations in the SIX3 gene on chromosome 2.

Diagnosis

Genetic testing for SIX3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 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 holoprosencephaly 2.

8 publications have been identified in PubMed for holoprosencephaly 2. Research spans Case Report / Case Series (57%) and Basic Science / Preclinical (43%).

Recent Publications

Caropeboka MFA (2026). [PMID: 41710465](https://pubmed.ncbi.nlm.nih.gov/41710465/). *Int Med Case Rep J*. [Case Report / Case Series]
Aryal S (2026). [PMID: 41727820](https://pubmed.ncbi.nlm.nih.gov/41727820/). *Radiol Case Rep*. [Case Report / Case Series]
Keçeci R (2026). [PMID: 42125343](https://pubmed.ncbi.nlm.nih.gov/42125343/). *Mol Syndromol*. [Case Report / Case Series]
Azuma N (2025). [PMID: 39859210](https://pubmed.ncbi.nlm.nih.gov/39859210/). *Int J Mol Sci*. [Basic Science / Preclinical]
Wallén E (2025). [PMID: 40401629](https://pubmed.ncbi.nlm.nih.gov/40401629/). *Dis Model Mech*. [Basic Science / Preclinical]
Kim H (2025). [PMID: 40393104](https://pubmed.ncbi.nlm.nih.gov/40393104/). *Biochem Biophys Res Commun*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Oct 3, 2026, 8:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:157170

Questions for Your Care Team

→Should I pursue genetic testing for SIX3, and what would the results mean for my family?
→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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holoprosencephaly 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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