Meckel syndrome, type 3
MONDO:0011821Mondo
Findings
No curated finding names Meckel syndrome, type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.
Definition from the Mondo Disease Ontology (MONDO:0011821), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 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.
- Multicystic kidney dysplasiaHPOHP:0000003
- 12 of 12 reported patients
- Malformation of the hepatic ductal plateHPOHP:0006563
- 4 of 5 reported patients
- Occipital encephaloceleHPOHP:0002085
- 8 of 12 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 5 reported patients
- Dandy-Walker malformationHPOHP:0001305
- 1 of 12 reported patients
- Postaxial foot polydactylyHPOHP:0001830
- 1 of 12 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.
- TMEM67HGNC:28396
- Definitive · Ambry Genetics · Autosomal recessive · 2016
Where it sits
Other names
4 names
Resolves to: Meckel syndrome, type 3
- Also called
- Meckel syndrome caused by mutation in TMEM67Meckel-Gruber syndrome, type 3MKS3TMEM67 Meckel syndrome