Corneal Dystrophy, Avellino Type malady
Categories: Genetic diseases, Rare diseases, Eye diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Corneal Dystrophy, Avellino Type:
Orphanet epidemiological data:53
avellino corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood
corneal dystrophy, avellino type:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Rare eye diseases
NIH Rare Diseases:47 Corneal dystrophy, Avellino type is an inherited condition that affects the stromal or central layer of the cornea. It results in the development of small particles or granules (like breadcrumbs) on the cornea (known as granular corneal dystrophy) and the development of lesions that resemble cracked glass (known as lattice corneal dystrophy). These eye lesions usually develop on the stromal layer before age 20. As affected individuals age, the lesions may become larger, more prominent, and involve the entire stromal layer. Some older individuals have decreased clarity of vision (decreased visual acuity) due to clouding of the cornea (opacity). Recurrent erosions of the eye from the granules may develop in some cases.The first reported cases could be traced to the Avellino region of Italy, which is how this form of the condition was named. Recent reports have described families from all around the world with this condition. The Avellino type of corneal dystrophy is inherited in an autosomal dominant manner and is caused by mutations in the TGFBI gene. Last updated: 4/7/2011
MalaCards based summary: Corneal Dystrophy, Avellino Type, also known as avellino corneal dystrophy, is related to corneal dystrophy, reis-bucklers type and acd-related dyskeratosis congenita, and has symptoms including visual impairment, lattice corneal dystrophy and reduced visual acuity. An important gene associated with Corneal Dystrophy, Avellino Type is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include eye.
OMIM:51 A number sign (#) is used with this entry because the Avellino type of corneal dystrophy (CDA) is caused by mutation in... (607541) more...
UniProtKB/Swiss-Prot:69 Corneal dystrophy, Avellino type: A corneal disease resulting in reduced visual acuity and characterized by gray, crumb-like granular deposits in the anterior third of the stroma in each corneal button. Fusiform amyloid deposits, histochemically and morphologically identical to those of lattice corneal dystrophy, are found in the deeper stroma. Additional features include recurrent corneal erosions, and glare and decreased night vision.
UMLS symptoms related to Corneal Dystrophy, Avellino Type:glare - eye symptom
MalaCards organs/tissues related to Corneal Dystrophy, Avellino Type:35
UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Avellino Type:69
Clinvar genetic disease variations for Corneal Dystrophy, Avellino Type:5
Search GEO for disease gene expression data for Corneal Dystrophy, Avellino Type.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet