ZEB1 gene related symptoms and diseases

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

SOURCES: OMIM ORPHANET

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

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

SOURCES: OMIM MESH

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

SOURCES: MESH ORPHANET

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

SOURCES: MESH ORPHANET

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

SOURCES: ORPHANET

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

SOURCES: OMIM