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Also known as:3MC syndrome caused by mutation in MASP13MC syndrome type 1MASP1 3MC syndrome
Overview
Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.
GeneticsAutosomal recessive · MASP1 (chr 3)
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 always present findings: Mild intellectual disability, Highly arched eyebrow, Downslanted palpebral fissures, and Periumbilical depression and others; and very common findings: Hearing loss (hearing impairment). 46 total HPO annotations.
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.
MASP1 encodes MBL associated serine protease 1 (699 aa). Precursor of a serum protease that activates the complement pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens... Highest expression in Cervix Ectocervix (115.7 TPM) and Cervix Endocervix (80.0 TPM).
3MC syndrome 1 is associated with mutations in the MASP1 gene on chromosome 3.
The MASP1 protein participates in Lectin pathway of complement activation pathway.
MASP1 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 0.0.
Diagnosis
Genetic testing for MASP1 is available. Testing is considered confirmatory for diagnosis.
Prognosis
Phenotype severity distribution: 5 always present features, 1 very common feature, 9 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 1.
3 publications have been identified in PubMed for 3MC syndrome 1. Research spans Basic Science / Preclinical (67%) and Case Report / Case Series (33%).
Recent Publications
Çetinkaya D (2026). [PMID: 41703727](https://pubmed.ncbi.nlm.nih.gov/41703727/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
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.
