TGFBI gene related symptoms and diseases
All the information presented here about the TGFBI gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TGFBI gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Corneal dystrophy | Very Common - Between 80% and 100% cases |
| Visual impairment | Uncommon - Between 30% and 50% cases |
| Pain | Uncommon - Between 30% and 50% cases |
| Recurrent corneal erosions | Uncommon - Between 30% and 50% cases |
| Visual loss | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with TGFBI gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Lattice corneal dystrophy
- Granular corneal dystrophy
Rarely - Less than 30% cases
- Corneal erosion
- Strabismus
- Photophobia
- Reduced visual acuity
- Corneal opacity
- Corneal crystals
And 16 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TGFBI gene
Here you will find a list of rare diseases related to the TGFBI. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GRANULAR CORNEAL DYSTROPHY TYPE II
Alternate names
GRANULAR CORNEAL DYSTROPHY TYPE II Is also known as granular corneal dystrophy type 2, gcd2, cgd2, granular-lattice corneal dystrophy, acd, gcdii, combined granular-lattice corneal dystrophy, granular corneal dystrophy, type ii, avellino corneal dystrophy
Description
Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.
Most common symptoms of GRANULAR CORNEAL DYSTROPHY TYPE II
- Visual impairment
- Myopia
- Reduced visual acuity
- Corneal opacity
- Corneal dystrophy
More info about GRANULAR CORNEAL DYSTROPHY TYPE II
EPITHELIAL BASEMENT MEMBRANE DYSTROPHY
Alternate names
EPITHELIAL BASEMENT MEMBRANE DYSTROPHY Is also known as map-dot-fingerprint dystrophy, corneal dystrophy, anterior basement membrane, cogan microcystic epithelial dystrophy, corneal dystrophy, map-dot-fingerprint type, corneal dystrophy, microcystic, ebmd, cogan corneal dystrophy, anterior basement membrane dystrophy
Most common symptoms of EPITHELIAL BASEMENT MEMBRANE DYSTROPHY
- Pain
- Visual loss
- Corneal dystrophy
- Epiphora
- Recurrent corneal erosions
More info about EPITHELIAL BASEMENT MEMBRANE DYSTROPHY
REIS-BÜCKLERS CORNEAL DYSTROPHY
Alternate names
REIS-BÜCKLERS CORNEAL DYSTROPHY Is also known as superficial granular corneal dystrophy, cdb1, reis-bucklers corneal dystrophy, anterior limiting membrane dystrophy type i, corneal dystrophy, geographic, rbcd, corneal dystrophy of bowman layer type i, anterior limiting membrane dystrophy type 1, geographic corn
Description
Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.
Most common symptoms of REIS-BÜCKLERS CORNEAL DYSTROPHY
- Strabismus
- Visual loss
- Photophobia
- Opacification of the corneal stroma
- Corneal dystrophy
More info about REIS-BÜCKLERS CORNEAL DYSTROPHY
THIEL-BEHNKE CORNEAL DYSTROPHY
Alternate names
THIEL-BEHNKE CORNEAL DYSTROPHY Is also known as corneal dystrophy of bowman layer type ii, corneal dystrophy of bowman layer, type ii, honeycomb corneal dystrophy, anterior limiting membrane dystrophy type ii, curly fiber corneal dystrophy, waardenburg-jonker corneal dystrophy, anterior limiting membrane dys
Description
Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.
Most common symptoms of THIEL-BEHNKE CORNEAL DYSTROPHY
- Visual loss
- Photophobia
- Corneal opacity
- Corneal dystrophy
- Corneal scarring
More info about THIEL-BEHNKE CORNEAL DYSTROPHY
GRANULAR CORNEAL DYSTROPHY TYPE I
Alternate names
GRANULAR CORNEAL DYSTROPHY TYPE I Is also known as classic gcd, corneal dystrophy groenouw type i, gcd1, granular corneal dystrophy, type i, granular corneal dystrophy type 1, gcdi, corneal dystrophy, punctate or nodular, classic granular corneal dystrophy
Description
Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.
Most common symptoms of GRANULAR CORNEAL DYSTROPHY TYPE I
- Strabismus
- Cataract
- Corneal dystrophy
- Granular corneal dystrophy
- Punctate corneal dystrophy
More info about GRANULAR CORNEAL DYSTROPHY TYPE I
LATTICE CORNEAL DYSTROPHY TYPE I
Alternate names
LATTICE CORNEAL DYSTROPHY TYPE I Is also known as classic lattice corneal dystrophy, cdl1, lcd1, lattice corneal dystrophy, type i, lcd, biber-haab-dimmer dystrophy, lcdi, lattice corneal dystrophy type 1
Description
Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.
Most common symptoms of LATTICE CORNEAL DYSTROPHY TYPE I
- Pain
- Visual impairment
- Progressive visual loss
- Cutaneous photosensitivity
- Corneal dystrophy
More info about LATTICE CORNEAL DYSTROPHY TYPE I
CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A
Alternate names
CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A Is also known as lattice corneal dystrophy, type iiia
Most common symptoms of CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A
- Pain
- Visual impairment
- Reduced visual acuity
- Corneal dystrophy
- Corneal erosion
More info about CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A
Search interest in TGFBI
Potential gene panels for TGFBI 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.
TGFBI Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the TGFBI gene.
More info about this panel Germany.
TGFBI. Detection of the mutations in 124 and 555 codons by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TGFBI gene.
More info about this panel Spain.
TGFBI. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TGFBI gene.
More info about this panel Spain.
Corneal dystrophy, Avellino type (mutations pArg555trp and pArg124His on TGFBI gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TGFBI gene.
More info about this panel Portugal.
Hereditary amyloidosis (NGS panel of 19 genes) Panel
Portugal.
By CGC Genetics Hereditary amyloidosis (NGS panel of 19 genes) that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN
More info about this panel Portugal.
Hereditary amyloidosis (NGS panel of 19 genes) Panel
Portugal.
By CGC Genetics Hereditary amyloidosis (NGS panel of 19 genes) that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN
More info about this panel Portugal.
Corneal dystrophy, TGFBI gene mutation analysis Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the TGFBI gene.
More info about this panel Poland.
Corneal Dystrophies Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Corneal Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI VSX1 OVOL2 SLC4A11 COL8A2 CYP4V2 ZNF469
More info about this panel United States.
TGFBI-Associated Corneal Dystrophies via TGFBI Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TGFBI gene.
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.
Corneal Dystrophy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Corneal Dystrophy that also includes the following genes: SOD1 TACSTD2 TCF4 ZEB1 TGFBI VSX1 SLC4A11 COL17A1 COL8A2 CYP4V2
More info about this panel Estonia.
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.
Corneal dystrophy, TGFBI sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the TGFBI gene.
More info about this panel United States.
TGFBI mutation screen Panel
Singapore.
By Molecular Diagnosis Centre National University Hospital
This panel specifically test the TGFBI gene.
More info about this panel Singapore.
TGFBI Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TGFBI gene.
More info about this panel United States.
Corneal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Corneal Dystrophy Panel that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI OVOL2 SLC4A11 COL17A1 COL5A1 COL8A2 CYP4V2
More info about this panel Finland.
Reis-B���¼cklers corneal dystrophy Panel
Spain.
By Bioarray
This panel specifically test the TGFBI gene.
More info about this panel Spain.
Avellino Universal Test for Corneal Dystrophies Panel
United States.
By Avellino Lab USA, Inc.
This panel specifically test the TGFBI gene.
More info about this panel United States.
AMYLOIDOSIS HEREDITARY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL AMYLOIDOSIS HEREDITARY NGS PANEL that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN
More info about this panel Spain.
GRANULAR CORNEAL DYSTROPHY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the TGFBI gene.
More info about this panel Spain.
Lattice Corneal Dystrophy Type I , Sequencing TGFBI Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TGFBI gene.
More info about this panel Spain.
Reis-Buckler Corneal Distrophy , Sequencing TGFBI Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TGFBI gene.
More info about this panel Spain.
Corneal Dystrophy Type Avellino , Sequencing TGFBI Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TGFBI gene.
More info about this panel Spain.
Corneal Dystrophy , Panel Massive Sequencing (NGS) 18 Genes Panel
Spain.
By Reference Laboratory Genetics Corneal Dystrophy , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI VSX1 SLC4A11 COL5A1 COL8A2 CYP4V2 ZNF469
More info about this panel Spain.
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