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Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.
Features include always present findings: Multicystic kidney dysplasia; and very common findings: Malformation of the hepatic ductal plate. 12 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 3 | Liver scarring (fibrosis) (hepatic fibrosis), Enlarged liver (hepatomegaly), Malformation of the hepatic ductal plate |
TMEM67 function has not been fully characterized.
Meckel syndrome, type 3 is associated with mutations in the TMEM67 gene on chromosome 8.
Genetic testing for TMEM67 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 1 very common feature, 2 common features.
No clinical trials have been registered for Meckel syndrome, type 3.
6 publications have been identified in PubMed for Meckel syndrome, type 3. Research spans Basic Science / Preclinical (83%) and Case Report / Case Series (17%).
Boutaud L (2026). [PMID: 40841990](https://pubmed.ncbi.nlm.nih.gov/40841990/). *Clin Genet*. [Basic Science / Preclinical]
He R (2026). [PMID: 41165761](https://pubmed.ncbi.nlm.nih.gov/41165761/). *J Clin Invest*. [Basic Science / Preclinical]
Ahmed M (2025). [PMID: 40436881](https://pubmed.ncbi.nlm.nih.gov/40436881/). *Nat Commun*. [Basic Science / Preclinical]
Taniguchi K (2025). [PMID: 40078074](https://pubmed.ncbi.nlm.nih.gov/40078074/). *Mol Genet Genomic Med*. [Basic Science / Preclinical]
Wang W (2025). [PMID: 40192002](https://pubmed.ncbi.nlm.nih.gov/40192002/). *J Clin Lab Anal*. [Basic Science / Preclinical]
Pang J (2024). [PMID: 38844949](https://pubmed.ncbi.nlm.nih.gov/38844949/). *BMC Med Genomics*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:31 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Meckel syndrome, type 3
Arms and legs |
2 |
Postaxial hand polydactyly, Postaxial foot polydactyly |
Head and neck | 1 | Cleft palate |
Brain and nerves | 1 | Hydrocephalus |
Kidneys and urinary system | 1 | Multicystic kidney dysplasia |