COL18A1 gene related symptoms and diseases

All the information presented here about the COL18A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COL18A1 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Dextrocardia Very Common - Between 80% and 100% cases
Acute lymphoblastic leukemia Very Common - Between 80% and 100% cases
Aplasia cutis congenita Very Common - Between 80% and 100% cases
Occipital encephalocele Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with COL18A1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Absent septum pellucidum
  • Chorioretinal atrophy
  • Cortical dysplasia
  • Ectopia lentis
  • Vitreoretinopathy
  • Pyloric stenosis
  • Corneal dystrophy
  • Macular degeneration

And 59 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 COL18A1 gene

Here you will find a list of rare diseases related to the COL18A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


KNOBLOCH SYNDROME


Alternate names

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele, knobloch-layer syndrome, retinal detachment-occipital encephalocele syndrome, kno

Description

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

Most common symptoms of KNOBLOCH SYNDROME

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


More info about KNOBLOCH SYNDROME

SOURCES: OMIM MESH ORPHANET


Potential gene panels for COL18A1 gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Knobloch syndrome type 1 (sequence analysis of COL18A1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the COL18A1 gene.

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Knobloch Syndrome, Type I via COL18A1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the COL18A1 gene.

More info about this panel

Vitreoretinopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Vitreoretinopathy Comprehensive panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2

More info about this panel

Vitreoretinopathy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Vitreoretinopathy Deletion / Duplication panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2

More info about this panel

Vitreoretinopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Vitreoretinopathy NGS panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2

More info about this panel

Knobloch syndrome 1 NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the COL18A1 gene.

More info about this panel

Knobloch syndrome 1 Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the COL18A1 gene.

More info about this panel

Knobloch syndrome 1 Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the COL18A1 gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Cataract Panel

Germany.

By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B

More info about this panel

Ectopia Lentis Panel

Germany.

By MGZ Medical Genetics Center Ectopia Lentis that also includes the following genes: ADAMTS10 CBS ADAMTS17 ADAMTSL4 COL11A1 COL18A1 VCAN FBN1 ASPH

More info about this panel

COL18A1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the COL18A1 gene.

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Stickler Syndrome / High Myopia Panel

Germany.

By MGZ Medical Genetics Center Stickler Syndrome / High Myopia that also includes the following genes: P3H2 COL11A1 COL18A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 VCAN FBN1

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Knobloch syndrome type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the COL18A1 gene.

More info about this panel

Single gene testing COL18A1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the COL18A1 gene.

More info about this panel

Glaucoma Panel

Estonia.

By Asper Biogene Asper Biogene LLC Glaucoma that also includes the following genes: SLC4A4 BEST1 ACVR1 OPTN ASB10 CANT1 SBF2 COL18A1 CYP1B1 WDR36

More info about this panel

Vitreoretinopathy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Vitreoretinopathy that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2

More info about this panel

Vitreoretinopathy panel Panel

United States.

By Molecular Vision Laboratory Vitreoretinopathy panel that also includes the following genes: ATOH7 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL4A3 COL4A4 COL4A5

More info about this panel

Glaucoma (Advance) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma (Advance) that also includes the following genes: RPS19 SLC4A4 TTR BEST1 RPGRIP1 CA4 ACVR1 OPTN ASB10 OLFM2

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Glaucoma NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Glaucoma NGS Panel that also includes the following genes: RPS19 SLC4A4 TTR BEST1 CA4 ACVR1 OPTN RRM2B CANT1 SBF2

More info about this panel

COL18A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COL18A1 gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel

Vitreoretinopathy Panel Panel

Finland.

By Blueprint Genetics Vitreoretinopathy Panel that also includes the following genes: RS1 BEST1 ATOH7 CAPN5 P3H2 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1

More info about this panel

Cataract Panel Panel

Finland.

By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1

More info about this panel

Ectopia Lentis Panel Panel

Finland.

By Blueprint Genetics Ectopia Lentis Panel that also includes the following genes: SUOX ADAMTS10 CBS ADAMTS17 AASS PORCN P3H2 ADAMTSL4 VSX2 BCOR

More info about this panel

GLAUCOMA NGS ÀNEL Panel

Spain.

By Laboratorio de Genetica Clinica SL GLAUCOMA NGS ÀNEL that also includes the following genes: SLC4A4 TEK BEST1 ACVR1 OPTN ASB10 MFRP CANT1 SBF2 COL18A1

More info about this panel

KNOBLOCH SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the COL18A1 gene.

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 PDX1 FANCL

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more