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Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.
Features include always present findings: Small earlobe, Long philtrum, Short stature, and Gastroesophageal reflux and others. 28 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 4 | Hypoplasia of the capital femoral epiphysis, Delayed skeletal maturation, Slender long bone |
CDC6 encodes cell division cycle 6 (560 aa). Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated Highest expression in Cells EBV-transformed lymphocytes (23.1 TPM) and Testis (10.4 TPM).
Meier-Gorlin syndrome 5 has limited evidence linking it to mutations in the CDC6 gene on chromosome 17.
The CDC6 protein participates in ORC(1-6):CDC6:origin of replication, ORC(1-6):CDC6:origin of replication:MCM2-7, and E2F1:TFDP1,TFDP2:CDC6 gene pathways.
CDC6 is classified as a druggable target with score 17.4.
Genetic testing for CDC6 is available. Testing is considered research-grade for diagnosis.
Biomarker and diagnostic research for Meier-Gorlin syndrome 5 has been reported in the published literature.
Phenotype severity distribution: 27 always present features.
No clinical trials have been registered for Meier-Gorlin syndrome 5.
7 publications have been identified in PubMed for Meier-Gorlin syndrome 5. Research spans Basic Science / Preclinical (57%), Diagnostic / Biomarker (14%), and Review / Meta-Analysis (14%).
Yang R (2026). [PMID: 41448435](https://pubmed.ncbi.nlm.nih.gov/41448435/). *The Journal of biological chemistry*. [Basic Science / Preclinical]
Liu Y (2026). [PMID: 41719335](https://pubmed.ncbi.nlm.nih.gov/41719335/). *Proceedings of the National Academy of Sciences of the United States of America*. [Basic Science / Preclinical]
Tibbe D (2026). [PMID: 41962535](https://pubmed.ncbi.nlm.nih.gov/41962535/). *Am J Hum Genet*. [Basic Science / Preclinical]
Gaik C (2025). [PMID: 41146023](https://pubmed.ncbi.nlm.nih.gov/41146023/). *BMC anesthesiology*. [Case Report / Case Series]
Denkiewicz-Kruk M (2025). [PMID: 40139510](https://pubmed.ncbi.nlm.nih.gov/40139510/). *Biochimica et biophysica acta. Molecular cell research*. [Basic Science / Preclinical]
Data assembled from 6 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 Meier-Gorlin syndrome 5
Head and neck
4 |
Submucous cleft hard palate, Microcephaly, Hypoplasia of the maxilla |
Growth and development | 3 | Short stature, Failure to thrive, Intrauterine growth retardation |
Digestive system | 2 | Gastroesophageal reflux, Feeding difficulties |
Brain and nerves | 2 | Mild global developmental delay, Global developmental delay |
Age of onset: infancy.
Zemet R (2025). [PMID: 40423626](https://pubmed.ncbi.nlm.nih.gov/40423626/). *Prenatal diagnosis*. [Diagnostic / Biomarker]
Li Q (2024). [PMID: 39789585](https://pubmed.ncbi.nlm.nih.gov/39789585/). *Orphanet journal of rare diseases*. [Review / Meta-Analysis]