FZD4 gene related symptoms and diseases

All the information presented here about the FZD4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FZD4 gene

Symptoms // Phenotype % Cases
Blindness Common - Between 50% and 80% cases
Retinal detachment Common - Between 50% and 80% cases
Phthisis bulbi Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Glaucoma Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with FZD4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormality of the retinal vasculature
  • Vitreous hemorrhage
  • Leukocoria
  • Abnormal macular morphology
  • Retinopathy
  • Exudative retinal detachment
  • Vitreoretinopathy
  • Uveitis

And 49 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FZD4 gene

Here you will find a list of rare diseases related to the FZD4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COATS DISEASE


Alternate names

COATS DISEASE Is also known as retinal telangiectasis, congenital retinal telangiectasia, leber miliary aneurysm

Description

Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.

Most common symptoms of COATS DISEASE

  • Strabismus
  • Cataract
  • Edema
  • Visual loss
  • Glaucoma


More info about COATS DISEASE

SOURCES: ORPHANET OMIM MESH

RETINOPATHY OF PREMATURITY


Alternate names

RETINOPATHY OF PREMATURITY Is also known as retrolental fibroplasia, rop

Description

Retinopathy of prematurity (ROP) is a rare retinal vasoproliferative disorder affecting preterm infants characterized initially by a delay in physiologic retinal vascular development, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.

Most common symptoms of RETINOPATHY OF PREMATURITY

  • Blindness
  • Small for gestational age
  • Premature birth
  • Abnormality of the retinal vasculature
  • Vitreous hemorrhage


More info about RETINOPATHY OF PREMATURITY

SOURCES: ORPHANET

FAMILIAL EXUDATIVE VITREORETINOPATHY


Alternate names

FAMILIAL EXUDATIVE VITREORETINOPATHY Is also known as fevr, autosomal dominant, criswick-schepens syndrome, exudative vitreoretinopathy, familial, autosomal dominant, fevr

Description

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.

Most common symptoms of FAMILIAL EXUDATIVE VITREORETINOPATHY

  • Microcephaly
  • Cataract
  • Blindness
  • Glaucoma
  • Reduced visual acuity


More info about FAMILIAL EXUDATIVE VITREORETINOPATHY

SOURCES: OMIM ORPHANET

PERSISTENT HYPERPLASTIC PRIMARY VITREOUS


Alternate names

PERSISTENT HYPERPLASTIC PRIMARY VITREOUS Is also known as rnanc, persistent fetal vasculature, persistent fetal vasculature syndrome, pfvs, congenital retinal detachment, ncrna disease, retinal nonattachment and falciform detachment, ncrna, phpv, retinal nonattachment, nonsyndromic congenital, non-syndromic congenital ret

Description

Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012).PHPV shares phenotypic overlap with Norrie disease (OMIM ). Genetic Heterogeneity of Persistent Hyperplastic Primary VitreousA dominant form of PHPV has been described (PHPVAD ).

Most common symptoms of PERSISTENT HYPERPLASTIC PRIMARY VITREOUS

  • Nystagmus
  • Cataract
  • Blindness
  • Microphthalmia
  • Glaucoma


More info about PERSISTENT HYPERPLASTIC PRIMARY VITREOUS

SOURCES: ORPHANET OMIM


Potential gene panels for FZD4 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

FZD4. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FZD4 gene.

More info about this panel

Retinopathy of prematurity (sequence analysis of FZD4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FZD4 gene.

More info about this panel

Familial Exudative Vitreoretinopathy 1 (FEVR1) via FZD4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FZD4 gene.

More info about this panel

Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection that also includes the following genes: ATOH7 CAPN5 RCBTB1 ATP6V0A2 ZNF408 TSPAN12 VCAN CTNNB1 ISPD FZD4

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

Exudative vitreoretinopathy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Exudative vitreoretinopathy Deletion / Duplication panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 FZD4 KIF11 LRP5 NDP

More info about this panel

Exudative vitreoretinopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Exudative vitreoretinopathy Comprehensive panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 FZD4 KIF11 LRP5 NDP

More info about this panel

Exudative vitreoretinopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Exudative vitreoretinopathy NGS panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 FZD4 KIF11 LRP5 NDP

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

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

Exudative vitreoretinopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FZD4 gene.

More info about this panel

Vitreoretinopathy and Wagner syndrome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Vitreoretinopathy and Wagner syndrome panel that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP

More info about this panel

Familial Exudative Vitreoretinopathy and Wagner syndrome Panel Panel

Germany.

By CeGaT GmbH Familial Exudative Vitreoretinopathy and Wagner syndrome Panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 VCAN FZD4 LRP5 NDP

More info about this panel

Single gene testing FZD4 Panel

Germany.

By CeGaT GmbH

This panel specifically test the FZD4 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

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

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

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

FEVR Panel Panel

United States.

By Molecular Vision Laboratory FEVR Panel that also includes the following genes: ZNF408 TSPAN12 FZD4 LRP5 NDP

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

Exudative vitreoretinopathy 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the FZD4 gene.

More info about this panel

Exudative vitreoretinopathy 1 Panel

Slovakia.

By MedGene

This panel specifically test the FZD4 gene.

More info about this panel

Exudative vitreoretinopahty, Familial: FZD4 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the FZD4 gene.

More info about this panel

Familial exudative vitreoretinopathy: LRP5, NDP, FZD4 genes deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Familial exudative vitreoretinopathy: LRP5, NDP, FZD4 genes deletions-duplications analysis (MLPA) that also includes the following genes: FZD4 LRP5 NDP

More info about this panel

Vitreoretinopathy and Wagner syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Vitreoretinopathy and Wagner syndrome that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP

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

Vitreoretinopathy: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Vitreoretinopathy: Sequencing and Deletion/Duplication Panel that also includes the following genes: TSPAN12 COL11A1 COL9A1 VCAN FZD4 KCNJ13 LRP5 NDP

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

Vitreoretinopathy and Wagner Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Vitreoretinopathy and Wagner Syndrome NGS Panel that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP

More info about this panel

FZD4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FZD4 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

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

Familial exudative vitreoretinopathy Panel

Spain.

By Bioarray

This panel specifically test the FZD4 gene.

More info about this panel

EXUDATIVE VITREORETINOPATHY (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL EXUDATIVE VITREORETINOPATHY (AUTOSOMAL DOMINANT) that also includes the following genes: TSPAN12 FZD4 LRP5

More info about this panel

VITREORETINOPATHY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL VITREORETINOPATHY NGS PANEL that also includes the following genes: BEST1 CAPN5 P3H2 ZNF408 TSPAN12 VCAN CTNNB1 FZD4 KCNJ13 LRP5

More info about this panel

Familial Exudative Vitreoretinopathy , Sequencing FZD4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FZD4 gene.

More info about this panel

Familial Exudative Vitreoretinopathy , Deletions-Duplications (MLPA) NDP,LRP5,FZD4 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Exudative Vitreoretinopathy , Deletions-Duplications (MLPA) NDP,LRP5,FZD4 Genes that also includes the following genes: FZD4 LRP5 NDP

More info about this panel

Familial Exudative Vitreoretinopathy and Wagner Syndrome , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Exudative Vitreoretinopathy and Wagner Syndrome , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP

More info about this panel

Familial Exudative Vitreoretinopathy, Autosomal Dominant: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Familial Exudative Vitreoretinopathy, Autosomal Dominant: gene sequencing panel that also includes the following genes: TSPAN12 FZD4 LRP5

More info about this panel


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