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autosomal recessive omodysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive omodysplasia

MONDO:0009779

Also known as:micromelic dysplasia-dislocation of radius syndromeomodysplasia type 1omodysplasia, autosomal recessive

Overview

Autosomal recessive form of omodysplasia.

GeneticsAutosomal recessive · GPC6 (chr 13)

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: Epicanthus, Fibular hypoplasia, Long philtrum, and Rhizomelia and 31 more.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	2	Ventricular septal defect, Atrial septal defect
Head and neck

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.

GPC6 encodes glypican 6 (555 aa). Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Highest expression in Artery Tibial (25.4 TPM) and Cells Cultured fibroblasts (16.8 TPM).

Autosomal recessive omodysplasia is associated with mutations in the GPC6 gene on chromosome 13.

The GPC6 protein participates in Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome pathway.

GPC6 is classified as a druggable target (Cell Surface and Druggable Genome categories) with score 0.0.

Diagnosis

Genetic testing for GPC6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:258315

Orphanet

European rare disease database

Orphanet:93329

GARD

Genetic and Rare Diseases Info Center

GARD:4076

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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autosomal recessive omodysplasia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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