CDC45 gene related symptoms and diseases
All the information presented here about the CDC45 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CDC45 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Mild short stature | Very Common - Between 80% and 100% cases |
| High palate | Very Common - Between 80% and 100% cases |
| Clitoral hypertrophy | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Aplasia/Hypoplasia of the patella | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CDC45 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Microtia
- Joint laxity
- Narrow mouth
- Micropenis
- Hypospadias
- Craniosynostosis
- Cryptorchidism
- Hearing impairment
And 128 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CDC45 gene
Here you will find a list of rare diseases related to the CDC45. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EAR-PATELLA-SHORT STATURE SYNDROME
Alternate names
EAR-PATELLA-SHORT STATURE SYNDROME Is also known as microtia, absent patellae, micrognathia syndrome, meier-gorlin syndrome, eps, ear, patella, short stature syndrome
Description
Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).
Most common symptoms of EAR-PATELLA-SHORT STATURE SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
More info about EAR-PATELLA-SHORT STATURE SYNDROME
MEIER-GORLIN SYNDROME 7; MGORS7
Most common symptoms of MEIER-GORLIN SYNDROME 7; MGORS7
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
- Scoliosis
More info about MEIER-GORLIN SYNDROME 7; MGORS7
SOURCES: OMIM
Search interest in CDC45
Potential gene panels for CDC45 gene
Craniofacial Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panel United States.
Craniofacial Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panel United States.
Craniosynostosis Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Craniosynostosis that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45
More info about this panel United States.
Craniosynostosis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Craniosynostosis Deletion / Duplication panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panel United States.
Craniosynostosis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Craniosynostosis Comprehensive panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panel United States.
Craniosynostosis NGS panel Panel
United States.
By Connective Tissue Gene Tests Craniosynostosis NGS panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panel United States.
Microcephalic primordial dwarfism Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism Comprehensive panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Microcephalic primordial dwarfism Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism Deletion / Duplication panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Meier-Gorlin syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Meier-Gorlin syndrome NGS panel that also includes the following genes: ORC6 CDC45 CDC6 GMNN CDT1 MCM5 ORC1 ORC4
More info about this panel United States.
Microcephalic primordial dwarfism NGS panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism NGS panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Meier-Gorlin syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Meier-Gorlin syndrome Comprehensive panel that also includes the following genes: ORC6 CDC45 CDC6 GMNN CDT1 MCM5 ORC1 ORC4
More info about this panel United States.
Meier-Gorlin syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Meier-Gorlin syndrome Deletion / Duplication panel that also includes the following genes: ORC6 CDC45 CDC6 GMNN CDT1 MCM5 ORC1 ORC4
More info about this panel United States.
qGenEx Craniofacial Anomalies Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panel Spain.
CDC45 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CDC45 gene.
More info about this panel United States.
Comprehensive Short Stature Syndrome Panel Panel
Finland.
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panel Finland.
Meier-Gorlin Syndrome Panel Panel
Finland.
By Blueprint Genetics Meier-Gorlin Syndrome Panel that also includes the following genes: ORC6 CDC45 CDC6 CDT1 ORC1 ORC4
More info about this panel Finland.
3-M Syndrome / Primordial Dwarfism Panel Panel
Finland.
By Blueprint Genetics 3-M Syndrome / Primordial Dwarfism Panel that also includes the following genes: BCS1L XRCC4 PCNT SRCAP ORC6 CENPJ CDC45 CDC6 RTTN CUL7
More info about this panel Finland.
Craniosynostosis Panel Panel
Finland.
By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
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