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Also known as:3MC syndrome caused by mutation in COLEC103MC syndrome type 3COLEC10 3MC syndrome
Overview
Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene.
GeneticsAutosomal recessive · COLEC10 (chr 8)
OnsetCONGENITAL
ResearchLimited published research (3 articles)
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 very common findings: Blepharophimosis; and common findings: Epicanthus inversus, Diastasis recti, Highly arched eyebrow, and Cleft palate and others. 27 total HPO annotations.
Organ System
Phenotype Count
Example Features
Head and neck
3
Cleft palate, Cleft upper lip, Tessier cleft
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.
COLEC10 encodes collectin subfamily member 10 (277 aa). Lectin that binds to various sugars: galactose > mannose = fucose > N-acetylglucosamine > N-acetylgalactosamine. Acts as a chemoattractant, probably involved in the regulation of cell migration Highest expression in Liver (14.3 TPM) and Lung (0.9 TPM).
3MC syndrome 3 is associated with mutations in the COLEC10 gene on chromosome 8.
The COLEC10 protein participates in Lectin pathway of complement activation pathway.
COLEC10 is classified as a druggable target (Druggable Genome and External Side Of Plasma Membrane categories) with score 0.9.
Diagnosis
Genetic testing for COLEC10 is available. Testing is considered confirmatory for diagnosis.
Prognosis
Phenotype severity distribution: 1 very common feature, 8 common features.
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 3MC syndrome 3.
3 publications have been identified in PubMed for 3MC syndrome 3. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.
