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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: OMIM ORPHANET

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


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

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

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

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

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

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

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

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

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

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

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

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

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

CDC45 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CDC45 gene.

More info about this panel

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

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

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

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

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SMARCA4 MEFV

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more