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holoprosencephaly 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

holoprosencephaly 9

MONDO:0012563

Also known as:GLI2 holoprosencephalyHPE9holoprosencephaly caused by mutation in GLI2

Overview

Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.

GeneticsSporadic (not inherited), Autosomal dominant · GLI2 (chr 2)

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: Hypoplasia of the maxilla; and very common findings: Partial agenesis of the corpus callosum. 56 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	10	Short hard palate, Solitary median maxillary central incisor, Cleft palate

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.

GLI2 encodes GLI family zinc finger 2 (1,586 aa). Functions as a transcription regulator in the hedgehog (Hh) pathway. Functions as a transcriptional activator. May also function as transcriptional repressor. Highest expression in Ovary (22.1 TPM) and Uterus (11.2 TPM).

Holoprosencephaly 9 is associated with mutations in the GLI2 gene on chromosome 2.

GLI2 is classified as a druggable target (Druggable Genome and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for GLI2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for holoprosencephaly 9 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 5 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 9.

16 publications have been identified in PubMed for holoprosencephaly 9. Research spans Basic Science / Preclinical (38%), Diagnostic / Biomarker (31%), and Case Report / Case Series (19%).

Research Type	Count	% of Total
Laboratory research	6	38%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610829

Questions for Your Care Team

→Should I pursue genetic testing for GLI2, 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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Kisho

holoprosencephaly 9

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 9

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