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Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene.
Features include always present findings: Delayed skeletal maturation, Low-set ears, Microtia, and Feeding difficulties in infancy and others; and very common findings: Micrognathia. 67 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 6 | Osteochondritis dissecans, Delayed skeletal maturation, Joint hypermobility |
Head and neck | 4 | Cleft palate, Microcephaly, Hypoplasia of the maxilla |
Arms and legs | 4 | Cutaneous finger syndactyly, Clinodactyly of the 5th finger, Joint contracture of the hand |
Ears | 2 | Hearing loss (hearing impairment), Incomplete partition of the cochlea type II |
Muscles | 2 | Flexion contracture, Joint contracture of the hand |
Digestive system | 2 | Gastroesophageal reflux, Feeding difficulties in infancy |
Skin | 2 | Thin skin, Hyperconvex nail |
Growth and development | 2 | Failure to thrive, Intrauterine growth retardation |
Lungs and breathing | 2 | Respiratory distress, Emphysema |
Eyes | 1 | Strabismus |
Brain and nerves | 1 | Mild intellectual disability |
Age of onset: at birth.
ORC1 encodes origin recognition complex subunit 1 (861 aa). Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The DNA sequences that define origins of replication have not been identified yet. Highest expression in Cells EBV-transformed lymphocytes (30.2 TPM) and Testis (13.9 TPM).
Meier-Gorlin syndrome 1 is associated with mutations in the ORC1 gene on chromosome 1.
ORC1 is classified as a druggable target with score 0.0.
Genetic testing for ORC1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 7 always present features, 1 very common feature, 7 common features.
No clinical trials have been registered for Meier-Gorlin syndrome 1.
2 publications have been identified in PubMed for Meier-Gorlin syndrome 1. Research spans Review / Meta-Analysis (100%).
Hong L (2026). [PMID: 41621849](https://pubmed.ncbi.nlm.nih.gov/41621849/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]
Li Q (2024). [PMID: 39789585](https://pubmed.ncbi.nlm.nih.gov/39789585/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC
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