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holoprosencephaly 3 (HLP3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

holoprosencephaly 3

MONDO:0007733

Also known as:HLP3HPE3SHH holoprosencephaly

Overview

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

GeneticsAutosomal dominant · SHH (chr 7)

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: Cyclopia, Microcephaly, Cleft palate, and Holoprosencephaly and 17 more.

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

Genetic Landscape

SHH function has not been fully characterized.

Holoprosencephaly 3 is associated with mutations in the SHH gene on chromosome 7.

Diagnosis

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

Biomarker and diagnostic research for holoprosencephaly 3 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 3.

42 publications have been identified in PubMed for holoprosencephaly 3. Research spans Case Report / Case Series (49%), Basic Science / Preclinical (24%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Patient case studies	18	49%

Data assembled from 5 of 12 sources · Last updated Oct 3, 2026, 7:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:142945

Questions for Your Care Team

→Should I pursue genetic testing for SHH, 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 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

holoprosencephaly 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications