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holoprosencephaly 4 (HPE4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

holoprosencephaly 4

MONDO:0007734

Also known as:HPE4TGIF1 holoprosencephalyholoprosencephaly caused by mutation in TGIF1

Overview

A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.

GeneticsAutosomal dominant · TGIF1 (chr 18)

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: Microcephaly, Dystonia, Median cleft upper lip, and Seizure and others; and common findings: Lobar holoprosencephaly and Semilobar holoprosencephaly. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Dystonia, Seizure, Depressed nasal bridge

Genetic Landscape

TGIF1 function has not been fully characterized.

Holoprosencephaly 4 is associated with mutations in the TGIF1 gene on chromosome 18.

Diagnosis

Genetic testing for TGIF1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for holoprosencephaly 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 always present features, 2 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 4.

34 publications have been identified in PubMed for holoprosencephaly 4. Research spans Case Report / Case Series (45%), Diagnostic / Biomarker (14%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Patient case studies	13	45%

Data assembled from 5 of 12 sources · Last updated Oct 4, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:142946

Questions for Your Care Team

→Should I pursue genetic testing for TGIF1, 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 4

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 4

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