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.
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
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
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 ).
Most common symptoms of PERSISTENT HYPERPLASTIC PRIMARY VITREOUS
- Nystagmus
- Cataract
- Blindness
- Microphthalmia
- Glaucoma
More info about PERSISTENT HYPERPLASTIC PRIMARY VITREOUS
Search interest in FZD4
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 United States.
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 Spain.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
Exudative vitreoretinopathy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FZD4 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
Single gene testing FZD4 Panel
Germany.
By CeGaT GmbH
This panel specifically test the FZD4 gene.
More info about this panel Germany.
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 Estonia.
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 Estonia.
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 United States.
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 United States.
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 United States.
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 United States.
Exudative vitreoretinopathy 1 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the FZD4 gene.
More info about this panel Austria.
Exudative vitreoretinopathy 1 Panel
Slovakia.
By MedGene
This panel specifically test the FZD4 gene.
More info about this panel Slovakia.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
FZD4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FZD4 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
Familial exudative vitreoretinopathy Panel
Spain.
By Bioarray
This panel specifically test the FZD4 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
Familial Exudative Vitreoretinopathy , Sequencing FZD4 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FZD4 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Canada.
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