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holoprosencephaly 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

holoprosencephaly 11

MONDO:0013642

Also known as:CDON holoprosencephalyHPE11holoprosencephaly caused by mutation in CDON

Overview

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

GeneticsSporadic (not inherited), Autosomal dominant · CDON (chr 11)

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: Microcephaly, Cleft palate, Thick eyebrow, and Holoprosencephaly and 7 more.

Organ System	Phenotype Count	Example Features
Head and neck	3	Microcephaly, Cleft palate, Cleft lip
Brain and nerves

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.

CDON encodes cell adhesion associated, oncogene regulated (1,287 aa). Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells Highest expression in Ovary (28.4 TPM) and Brain Cerebellar Hemisphere (27.1 TPM).

Holoprosencephaly 11 is associated with mutations in the CDON gene on chromosome 11.

The CDON protein participates in Ligand-receptor interactions pathway.

CDON is classified as a druggable target with score 0.0.

Diagnosis

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

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 11.

18 publications have been identified in PubMed for holoprosencephaly 11. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	8	44%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 3:27 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614226

Questions for Your Care Team

→Should I pursue genetic testing for CDON, 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 11

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 11

Overview

Clinical Presentation

Genetic Landscape

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