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holoprosencephaly 5 (HPE5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

holoprosencephaly 5

MONDO:0012322

Also known as:HPE5ZIC2 holoprosencephalyholoprosencephaly caused by mutation in ZIC2

Overview

Holoprosencephaly associated with mutations in the ZIC2 gene.

GeneticsAutosomal dominant · ZIC2 (chr 13)

OnsetCONGENITAL

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: Shrinkage of the cerebellum (cerebellar atrophy), Arachnoid cyst, Enlarged brain ventricles (ventriculomegaly), and Overactive reflexes (hyperreflexia) and others; and very common findings: Upslanted palpebral fissure. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Seizure, Hydrocephalus, Enlarged brain ventricles (ventriculomegaly)

Genetic Landscape

ZIC2 function has not been fully characterized.

Holoprosencephaly 5 is associated with mutations in the ZIC2 gene on chromosome 13.

Diagnosis

Genetic testing for ZIC2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for holoprosencephaly 5 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 12 always present features, 1 very common feature, 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 5.

31 publications have been identified in PubMed for holoprosencephaly 5. Research spans Case Report / Case Series (42%), Epidemiology / Natural History (19%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Patient case studies	13	42%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609637

Questions for Your Care Team

→Should I pursue genetic testing for ZIC2, 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 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

holoprosencephaly 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications