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Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.
Features include always present findings: Camptodactyly of finger, Low muscle tone (hypotonia), Smooth philtrum, and Molar tooth sign on MRI and others; and common findings: Postaxial hand polydactyly. 81 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 5 | Camptodactyly of finger, Radial deviation of finger, Foot polydactyly |
MKS1 encodes MKS transition zone complex subunit 1 (559 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 (24.3 TPM) and Ovary (22.3 TPM).
Meckel syndrome, type 1 is associated with mutations in the MKS1 gene on chromosome 17.
MKS1 is classified as a druggable target with score 0.0.
Genetic testing for MKS1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 23 always present features, 1 common feature.
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
15 publications have been identified in PubMed for Meckel syndrome, type 1. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 33% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC
Online Mendelian Inheritance in Man
Common questions about Meckel syndrome, type 1
Brain and nerves |
5 |
Hydrocephalus, Cerebral hypoplasia, Absent speech |
Head and neck | 4 | Cleft palate, Microcephaly, Cleft upper lip |
Digestive system | 4 | Accessory spleen, Enlarged spleen (splenomegaly), Malformation of the hepatic ductal plate |
Kidneys and urinary system | 3 | Polycystic kidney dysplasia, Cystic renal dysplasia, Renal agenesis |
Muscles | 2 | Low muscle tone (hypotonia), Axial hypotonia |
Eyes | 2 | Rotary nystagmus, Ptosis |
Hormones | 1 | Adrenal hypoplasia |
Heart and blood vessels | 1 | Abnormal cardiac septum morphology |
Lungs and breathing | 1 | Pulmonary hypoplasia |
Blood and immune system | 1 | Enlarged spleen (splenomegaly) |
Bones and joints | 1 | Bowing of the long bones |
Growth and development | 1 | Intrauterine growth retardation |
Laboratory research |
5 |
33% |
Research summaries | 3 | 20% |
Disease patterns and progression | 1 | 7% |
New treatment approaches | 1 | 7% |
Liu Y (2026). [PMID: 41518077](https://pubmed.ncbi.nlm.nih.gov/41518077/). *Genesis*. [Gene Therapy / Novel Therapeutics]
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]
Kuroda Y (2025). [PMID: 39304719](https://pubmed.ncbi.nlm.nih.gov/39304719/). *J Hum Genet*. [Case Report / Case Series]
Ahmed M (2025). [PMID: 40436881](https://pubmed.ncbi.nlm.nih.gov/40436881/). *Nat Commun*. [Basic Science / Preclinical]
Ulusoy Tangul S (2025). [PMID: 39412385](https://pubmed.ncbi.nlm.nih.gov/39412385/). *Fetal Pediatr Pathol*. [Case Report / Case Series]
Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Moulehi K (2025). [PMID: 41858965](https://pubmed.ncbi.nlm.nih.gov/41858965/). *Pan Afr Med J*. [Case Report / Case Series]
Campobasso G (2025). [PMID: 40565534](https://pubmed.ncbi.nlm.nih.gov/40565534/). *Genes (Basel)*. [Review / Meta-Analysis]
Hakeem A (2025). [PMID: 39781470](https://pubmed.ncbi.nlm.nih.gov/39781470/). *Int J Biol Sci*. [Review / Meta-Analysis]