ZEB1 gene related symptoms and diseases

All the information presented here about the ZEB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ZEB1 gene

Symptoms // Phenotype % Cases
Corneal dystrophy Common - Between 50% and 80% cases
Edema Uncommon - Between 30% and 50% cases
Glaucoma Uncommon - Between 30% and 50% cases
Corneal stromal edema Uncommon - Between 30% and 50% cases
Ectropion Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ZEB1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Corneal guttata
  • Keratitis
  • Blindness
  • Rarely - Less than 30% cases

  • Hypotrichosis
  • Palmoplantar keratoderma
  • Lymphadenopathy
  • Dry skin
  • Skin rash

And 56 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ZEB1 gene

Here you will find a list of rare diseases related to the ZEB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY


Alternate names

POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY Is also known as schlichting dystrophy, corneal endothelial dystrophy 1, autosomal dominant, formerly, ppcd, ched1, formerly, posterior polymorphous dystrophy, maumenee corneal dystrophy, posterior polymorphous corneal dystrophy, corneal dystrophy, hereditary polymorphous poster

Description

Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.

Most common symptoms of POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY

  • Edema
  • Glaucoma
  • Photophobia
  • Corneal opacity
  • Falls


More info about POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY

SOURCES: OMIM ORPHANET

CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3


Most common symptoms of CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3

  • Blindness
  • Hernia
  • Inguinal hernia
  • Glaucoma
  • Corneal dystrophy


More info about CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3

SOURCES: OMIM MESH

ORAL SUBMUCOUS FIBROSIS


Alternate names

ORAL SUBMUCOUS FIBROSIS Is also known as osmf

Description

Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.

Most common symptoms of ORAL SUBMUCOUS FIBROSIS

  • Flexion contracture
  • Narrow mouth
  • Trismus
  • Cheilitis
  • Abnormality of the pharynx


More info about ORAL SUBMUCOUS FIBROSIS

SOURCES: MESH ORPHANET

SÉZARY SYNDROME


Alternate names

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Description

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

Most common symptoms of SÉZARY SYNDROME

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


More info about SÉZARY SYNDROME

SOURCES: MESH ORPHANET

FUCHS ENDOTHELIAL CORNEAL DYSTROPHY


Alternate names

FUCHS ENDOTHELIAL CORNEAL DYSTROPHY Is also known as fecd, late hereditary endothelial dystrophy, endoepithelial corneal dystrophy

Description

Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.

Most common symptoms of FUCHS ENDOTHELIAL CORNEAL DYSTROPHY

  • Cataract
  • Blindness
  • Abnormality of the eye
  • Opacification of the corneal stroma
  • Corneal dystrophy


More info about FUCHS ENDOTHELIAL CORNEAL DYSTROPHY

SOURCES: ORPHANET

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6


Alternate names

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6 Is also known as corneal dystrophy, fuchs endothelial, late-onset

Description

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).

Most common symptoms of CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy
  • Keratitis
  • Corneal stromal edema


More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6

SOURCES: OMIM


Potential gene panels for ZEB1 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

ZEB1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ZEB1 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

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

Posterior polymorphous corneal dystrophy 3 (PPCD3): ZEB1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ZEB1 gene.

More info about this panel

ZEB1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ZEB1 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

POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ZEB1 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

Posterior Polymorphous Corneal Dystrophy , Panel Massive Sequencing (NGS) OVOL2, COL8A2, ZEB1 Panel

Spain.

By Reference Laboratory Genetics Posterior Polymorphous Corneal Dystrophy , Panel Massive Sequencing (NGS) OVOL2, COL8A2, ZEB1 that also includes the following genes: ZEB1 OVOL2 COL8A2

More info about this panel


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