3MC syndrome 1
MONDO:0009770Mondo
Findings
No curated finding names 3MC syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009770), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Downslanted palpebral fissuresHPOHP:0000494
- 3 of 3 reported patients
- Highly arched eyebrowHPOHP:0002553
- 9 of 9 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 3 of 3 reported patients
- Periumbilical depressionHPOHP:6000808
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 9 of 9 reported patients
- Hearing impairmentHPOHP:0000365
- 5 of 6 reported patients
- Caudal appendageHPOHP:0002825
- 7 of 9 reported patients
- Cleft lipHPOHP:0410030
- 4 of 6 reported patients
- Cleft palateHPOHP:0000175
- 4 of 6 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 2 of 3 reported patients
- HypertelorismHPOHP:0000316
- 6 of 9 reported patients
- TelecanthusHPOHP:0000506
- 2 of 3 reported patients
Show the remaining 8
- Postnatal growth retardationHPOHP:0008897
- 3 of 6 reported patients
- BlepharophimosisHPOHP:0000581
- 3 of 9 reported patients
- SynophrysHPOHP:0000664
- 1 of 3 reported patients
- Skull asymmetryHPOHP:0002678
- 1 of 6 reported patients
- Cleft upper lipHPOHP:0000204
- 0 of 3 reported patients
- Diastasis rectiHPOHP:0001540
- 0 of 6 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MASP1HGNC:6901
- Definitive · G2P · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: 3MC syndrome 1
- Also called
- 3MC syndrome caused by mutation in MASP13MC syndrome type 1MASP1 3MC syndrome