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.

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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

SOURCES: ORPHANET MESH OMIM

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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: ORPHANET OMIM MESH

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

SOURCES: MESH ORPHANET OMIM

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

SOURCES: MESH OMIM ORPHANET

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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: OMIM MESH


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

TGFBI Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the TGFBI gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

TGFBI mutation screen Panel

Singapore.

By Molecular Diagnosis Centre National University Hospital

This panel specifically test the TGFBI gene.

More info about this panel

TGFBI Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TGFBI gene.

More info about this panel

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

Reis-B���¼cklers corneal dystrophy Panel

Spain.

By Bioarray

This panel specifically test the TGFBI gene.

More info about this panel

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

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

GRANULAR CORNEAL DYSTROPHY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the TGFBI gene.

More info about this panel

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

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

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

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


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