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Also known as:3MC syndrome caused by mutation in COLEC113MC syndrome type 2COLEC11 3MC syndrome
Overview
Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.
GeneticsAutosomal recessive · COLEC11 (chr 2)
ResearchLimited published research (1 article)
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 always present findings: Hypertelorism, Highly arched eyebrow, and Ptosis; and common findings: Hearing loss (hearing impairment), Postnatal growth retardation, Skull asymmetry, and Intellectual disability and others. 37 total HPO annotations.
Organ System
Phenotype Count
Example Features
Head and neck
4
High palate, Cleft palate, Craniosynostosis
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.
COLEC11 encodes collectin subfamily member 11 (271 aa). Lectin that plays a role in innate immunity, apoptosis and embryogenesis. Highest expression in Ovary (47.0 TPM) and Liver (41.0 TPM).
3MC syndrome 2 is associated with mutations in the COLEC11 gene on chromosome 2.
The COLEC11 protein participates in Lectin pathway of complement activation pathway.
COLEC11 is classified as a druggable target (External Side Of Plasma Membrane category) with score 0.0.
Diagnosis
Genetic testing for COLEC11 is available. Testing is considered confirmatory for diagnosis.
Prognosis
Phenotype severity distribution: 3 always present features, 10 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 2.
1 publication has been identified in PubMed for 3MC syndrome 2. Research spans Basic Science / Preclinical (100%).
Recent Publications
Çetinkaya D (2026). [PMID: 41703727](https://pubmed.ncbi.nlm.nih.gov/41703727/). *Am J Med Genet A*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:44 AM UTC
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.
