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holoprosencephaly 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

holoprosencephaly 1

MONDO:0009349

Also known as:Hpe, familialcyclopiaHPE1

Overview

The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.

GeneticsSporadic (not inherited), Autosomal recessive, Autosomal dominant

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: Alobar holoprosencephaly, Cyclopia, Short stature, and Single ventricle and 20 more.

Organ System	Phenotype Count	Example Features
Head and neck	4	Median cleft upper lip, Microcephaly, Median cleft palate
Brain and nerves

Diagnosis

Biomarker and diagnostic research for holoprosencephaly 1 has been reported in the published literature.

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 1.

107 publications have been identified in PubMed for holoprosencephaly 1. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (23%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	53	50%

Data assembled from 4 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:236100

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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holoprosencephaly 1

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

holoprosencephaly 1

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications