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holoprosencephaly 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

holoprosencephaly 10

MONDO:0976262

Overview

GeneticsDISP1 (chr 1)

ResearchLimited published research (1 article)

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.

DISP1 encodes dispatched RND transporter family member 1 (1,524 aa). Functions in hedgehog (Hh) signaling. Regulates the release and extracellular accumulation of cholesterol-modified hedgehog proteins and is hence required for effective production of the Hh signal. Highest expression in Lung (17.4 TPM) and Nerve Tibial (16.3 TPM).

Holoprosencephaly 10 is associated with mutations in the DISP1 gene on chromosome 1.

DISP1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DISP1 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 10.

1 publication has been identified in PubMed for holoprosencephaly 10. Research spans Basic Science / Preclinical (100%).

Recent Publications

Iwaya C (2024). [PMID: 39051201](https://pubmed.ncbi.nlm.nih.gov/39051201/). *J Dev Biol*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:39 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621143

Questions for Your Care Team

→Should I pursue genetic testing for DISP1, 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 10

Overview

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team