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Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene.
Features include always present findings: Renal cyst; and very common findings: Bile duct proliferation. 15 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 1 | Cleft palate |
Arms and legs |
TMEM216 function has not been fully characterized.
Meckel syndrome, type 2 is associated with mutations in the TMEM216 gene on chromosome 11.
Genetic testing for TMEM216 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 1 very common feature, 5 common features.
No clinical trials have been registered for Meckel syndrome, type 2.
10 publications have been identified in PubMed for Meckel syndrome, type 2. Research spans Case Report / Case Series (40%), Review / Meta-Analysis (30%), and Basic Science / Preclinical (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 4 | 40% |
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 2
1
Postaxial hand polydactyly |
Kidneys and urinary system | 1 | Renal cyst |
Bones and joints | 1 | Bowing of the long bones |
Growth and development | 1 | Intrauterine growth retardation |
Digestive system | 1 | Intestinal malrotation |
3 |
30% |
Laboratory research | 2 | 20% |
Disease patterns and progression | 1 | 10% |
Boutaud L (2026). [PMID: 40841990](https://pubmed.ncbi.nlm.nih.gov/40841990/). *Clin Genet*. [Basic Science / Preclinical]
Moulehi K (2025). [PMID: 41858965](https://pubmed.ncbi.nlm.nih.gov/41858965/). *Pan Afr Med J*. [Case Report / Case Series]
Ercoskun P (2025). [PMID: 39731278](https://pubmed.ncbi.nlm.nih.gov/39731278/). *Clin Genet*. [Epidemiology / Natural History]
Shi Q (2025). [PMID: 40432436](https://pubmed.ncbi.nlm.nih.gov/40432436/). *Physiol Res*. [Review / Meta-Analysis]
Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Sun L (2025). [PMID: 40365501](https://pubmed.ncbi.nlm.nih.gov/40365501/). *Front Med (Lausanne)*. [Case Report / Case Series]
Hakeem A (2025). [PMID: 39781470](https://pubmed.ncbi.nlm.nih.gov/39781470/). *Int J Biol Sci*. [Review / Meta-Analysis]
Ulusoy Tangul S (2025). [PMID: 39412385](https://pubmed.ncbi.nlm.nih.gov/39412385/). *Fetal Pediatr Pathol*. [Case Report / Case Series]
Junior JHMF (2024). [PMID: 38459147](https://pubmed.ncbi.nlm.nih.gov/38459147/). *Childs Nerv Syst*. [Review / Meta-Analysis]
Caenen-Braz C (2024). [PMID: 39455645](https://pubmed.ncbi.nlm.nih.gov/39455645/). *Sci Rep*. [Basic Science / Preclinical]