C1QTNF5 gene related symptoms and diseases

All the information presented here about the C1QTNF5 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 C1QTNF5 gene

Symptoms // Phenotype % Cases
Blindness Uncommon - Between 30% and 50% cases
Scotoma Uncommon - Between 30% and 50% cases
Retinal detachment Uncommon - Between 30% and 50% cases
Glaucoma Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with C1QTNF5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Sub-RPE deposits
  • Adult-onset night blindness
  • Macular scar
  • Choroidal neovascularization
  • Drusen
  • Chorioretinal atrophy
  • Visual loss
  • Abnormal electroretinogram

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to C1QTNF5 gene

Here you will find a list of rare diseases related to the C1QTNF5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LATE-ONSET RETINAL DEGENERATION


Alternate names

LATE-ONSET RETINAL DEGENERATION Is also known as lord, autosomal dominant late-onset retinal degeneration, retinal degeneration, late-onset, autosomal dominant

Description

Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.

Most common symptoms of LATE-ONSET RETINAL DEGENERATION

  • Blindness
  • Visual loss
  • Rod-cone dystrophy
  • Scarring
  • Retinopathy


More info about LATE-ONSET RETINAL DEGENERATION

SOURCES: MESH OMIM ORPHANET

NANOPHTHALMOS 2; NNO2


Alternate names

NANOPHTHALMOS 2; NNO2 Is also known as nanophthalmia 2, nanophthalmos, autosomal recessive

Most common symptoms of NANOPHTHALMOS 2; NNO2

  • Microphthalmia
  • Glaucoma
  • Retinal detachment
  • Angle closure glaucoma


More info about NANOPHTHALMOS 2; NNO2

SOURCES: MESH OMIM


Potential gene panels for C1QTNF5 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Macular Degeneration Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Macular Degeneration Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RAX2 IMPG2 HMCN1

More info about this panel

Retinitis Pigmentosa Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

Retinal degeneration late-onset, AD (sequence analysis of C1QTNF5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the C1QTNF5 gene.

More info about this panel

Stargardt disease and macular distrophy (NGS panel for 14 genes) Panel

Portugal.

By CGC Genetics Stargardt disease and macular distrophy (NGS panel for 14 genes) that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4

More info about this panel

Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection that also includes the following genes: RHO ROM1 RP1 RPE65 SEMA4A BEST1 CA4 C1QTNF5 PRPF31 KLHL7

More info about this panel

Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR SAG SEMA4A TULP1

More info about this panel

Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 RPGRIP1 C1QTNF5 ELOVL4 RP1L1 CDH3

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

Retinal degeneration, late-onset, autosomal dominant Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the C1QTNF5 gene.

More info about this panel

Stargardt Disease and Macular Dystrophies Panel Panel

Germany.

By CeGaT GmbH Stargardt Disease and Macular Dystrophies Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 IMPG2 TTLL5 RDH12

More info about this panel

Single gene testing C1QTNF5 Panel

Germany.

By CeGaT GmbH

This panel specifically test the C1QTNF5 gene.

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

STARGARDT SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases STARGARDT SYNDROME that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4

More info about this panel

Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

Retina/Photoreceptor Dystrophy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel

Eye Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

C1QTNF5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the C1QTNF5 gene.

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

Macular Dystrophy Panel Panel

Finland.

By Blueprint Genetics Macular Dystrophy Panel that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 PRDM13 C1QTNF5 ELOVL4 RP1L1 CDH3

More info about this panel

Retinitis Pigmentosa Panel Panel

Finland.

By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27

More info about this panel

Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4 FSCN2

More info about this panel


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