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Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene.
Features include always present findings: Limb undergrowth, Talipes equinovarus, Ambiguous genitalia, and Occipital encephalocele and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 1 | Limb undergrowth |
Kidneys and urinary system |
B9D1 encodes B9 domain containing 1 (204 aa). Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Highest expression in Testis (47.0 TPM) and Pituitary (39.0 TPM).
Meckel syndrome, type 9 is associated with mutations in the B9D1 gene on chromosome 17.
B9D1 is classified as a druggable target with score 0.0.
Genetic testing for B9D1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 7 always present features.
No clinical trials have been registered for Meckel syndrome, type 9.
9 publications have been identified in PubMed for Meckel syndrome, type 9. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (22%).
He R (2026). [PMID: 41165761](https://pubmed.ncbi.nlm.nih.gov/41165761/). *J Clin Invest*. [Basic Science / Preclinical]
Liu Y (2026). [PMID: 41518077](https://pubmed.ncbi.nlm.nih.gov/41518077/). *Genesis*. [Gene Therapy / Novel Therapeutics]
Jing H (2025). [PMID: 40933483](https://pubmed.ncbi.nlm.nih.gov/40933483/). *Front Genet*. [Basic Science / Preclinical]
Campobasso G (2025). [PMID: 40565534](https://pubmed.ncbi.nlm.nih.gov/40565534/). *Genes (Basel)*. [Review / Meta-Analysis]
Pardo LM (2025). [PMID: 41054827](https://pubmed.ncbi.nlm.nih.gov/41054827/). *Clin Genet*. [Case Report / Case Series]
Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Meckel syndrome, type 9
1 |
Multicystic kidney dysplasia |
Pregnancy and birth | 1 | Sonographic non-visualized fetal bladder |
Liu X (2024). [PMID: 39060957](https://pubmed.ncbi.nlm.nih.gov/39060957/). *Mol Med*. [Review / Meta-Analysis]
Sentell ZT (2024). [PMID: 38987663](https://pubmed.ncbi.nlm.nih.gov/38987663/). *Eur J Hum Genet*. [Case Report / Case Series]
Orlova M (2024). [PMID: 39092430](https://pubmed.ncbi.nlm.nih.gov/39092430/). *Front Genet*. [Epidemiology / Natural History]