TSPAN12 gene related symptoms and diseases
All the information presented here about the TSPAN12 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TSPAN12 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cataract | Very Common - Between 80% and 100% cases |
| Retinal detachment | Very Common - Between 80% and 100% cases |
| Vitreoretinopathy | Very Common - Between 80% and 100% cases |
| Exudative vitreoretinopathy | Very Common - Between 80% and 100% cases |
| Shallow anterior chamber | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with TSPAN12 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Retinal fold
- Blindness
- Glaucoma
- Phthisis bulbi
Not very common - Between 30% and 50% cases
- Remnants of the hyaloid vascular system
- Nystagmus
- Anterior synechiae of the anterior chamber
- Retinal dysplasia
And 113 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TSPAN12 gene
Here you will find a list of rare diseases related to the TSPAN12. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
NORRIE DISEASE
Alternate names
NORRIE DISEASE Is also known as episkopi blindness, norrie-warburg disease, atrophia bulborum hereditaria
Description
Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.
Most common symptoms of NORRIE DISEASE
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Microcephaly
More info about NORRIE DISEASE
EXUDATIVE VITREORETINOPATHY 5; EVR5
Description
Familial exudative vitreoretinopathy is an inherited blinding disorder caused by defects in the development of retinal vasculature. There is extensive variation in disease severity among patients, even between members of the same family. Severely affected individuals often are registered as blind during infancy and can present with a phenotype resembling retinal dysplasia. Conversely, mildly affected individuals frequently have few or no visual problems and may have just a small area of avascularity in their peripheral retina, detectable only by fluorescein angiography (summary by Poulter et al., 2012).For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy (FEVR), see EVR1 (OMIM ).
Most common symptoms of EXUDATIVE VITREORETINOPATHY 5; EVR5
- Cataract
- Reduced visual acuity
- Congenital cataract
- Retinal detachment
- Vitreoretinopathy
More info about EXUDATIVE VITREORETINOPATHY 5; EVR5
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 TSPAN12
Potential gene panels for TSPAN12 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.
Exudative vitreoretinopathy 5 (sequence analysis of TSPAN12 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TSPAN12 gene.
More info about this panel Portugal.
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.
Familial Exudative Vitreoretinopathy 5 (FEVR5) via TSPAN12 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TSPAN12 gene.
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.
Exudative vitreoretinopathy type 5 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TSPAN12 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 TSPAN12 Panel
Germany.
By CeGaT GmbH
This panel specifically test the TSPAN12 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.
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.
TSPAN12 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TSPAN12 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.
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 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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