ORC6 gene related symptoms and diseases

All the information presented here about the ORC6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ORC6 gene

Symptoms // Phenotype % Cases
Short ribs Very Common - Between 80% and 100% cases
Dyspnea Very Common - Between 80% and 100% cases
Delayed skeletal maturation Very Common - Between 80% and 100% cases
Hypoplastic labia minora Very Common - Between 80% and 100% cases
Posteriorly rotated ears Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ORC6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Patellar aplasia
  • Micropenis
  • Narrow mouth
  • Gastroesophageal reflux
  • Coxa valga
  • Breast hypoplasia
  • Thick lower lip vermilion
  • Aplasia/Hypoplasia of the patella

And 122 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ORC6 gene

Here you will find a list of rare diseases related to the ORC6. 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 3; MGORS3


Most common symptoms of MEIER-GORLIN SYNDROME 3; MGORS3

  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia


More info about MEIER-GORLIN SYNDROME 3; MGORS3

SOURCES: OMIM


Potential gene panels for ORC6 gene

Meier-Gorlin Syndrome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Meier-Gorlin Syndrome Panel that also includes the following genes: ORC6 CDC6 GMNN CDT1 ORC1 ORC4

More info about this panel

Comprehensive Primordial Dwarfism Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Primordial Dwarfism Panel that also includes the following genes: PLK4 XRCC4 CRIPT PCNT ORC6 CENPJ CDC6 GMNN RTTN CDK5RAP2

More info about this panel

Microcephaly Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT

More info about this panel

Microcephaly Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18

More info about this panel

Meier-Gorlin Syndrome 3 Panel

United States.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children

This panel specifically test the ORC6 gene.

More info about this panel

Meier-Gorlin Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Meier-Gorlin Syndrome Sequencing Panel with CNV Detection that also includes the following genes: ORC6 CDC6 CDT1 ORC1 ORC4

More info about this panel

Meier-Gorlin Syndrome via ORC6 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ORC6 gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

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

Selected Genetic Syndromes with skeletal involvement Panel Panel

Germany.

By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6

More info about this panel

Single gene testing ORC6 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ORC6 gene.

More info about this panel

Neurology: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3

More info about this panel

Primordial Dwarfism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Primordial Dwarfism NGS Panel that also includes the following genes: PCNT ORC6 CENPJ CDC6 CDT1 CEP63 CEP152 RNU4ATAC ORC1 ORC4

More info about this panel

Meier-Gorlin Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Meier-Gorlin Syndrome NGS Panel that also includes the following genes: ORC6 CDC6 CDT1 ORC1 ORC4

More info about this panel

ORC6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ORC6 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

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

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

Meier-Gorlin Syndrome NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Meier-Gorlin Syndrome NGS and Deletion/Duplication Panel that also includes the following genes: ORC6 CDC6 CDT1 ORC1 ORC4

More info about this panel

ORC6 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the ORC6 gene.

More info about this panel

Primordial Dwarfism and Related Disorders , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Primordial Dwarfism and Related Disorders , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: PCNT ORC6 CENPJ CDC6 CDT1 CEP63 CEP152 RNU4ATAC ORC1 ORC4

More info about this panel

Meier-Gorlin Syndrome , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Meier-Gorlin Syndrome , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: ORC6 CDC6 CDT1 ORC1 ORC4

More info about this panel


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