CDA
MCID: CRN237
MIFTS: 39
|
Corneal Dystrophy, Avellino Type (CDA)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
|
|
MalaCards integrated aliases for Corneal Dystrophy, Avellino Type:
Characteristics:Orphanet epidemiological data:58
granular corneal dystrophy type ii
Inheritance: Autosomal dominant; Age of onset: Childhood; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
deposits may recur in graft after corneal transplantation allelic to groenouw type 1 corneal dystrophy , thiel-behnke corneal dystrophy , lattice type 1 corneal dystrophy , lattice type iiia corneal dystrophy , and reis-bucklers type corneal dystrophy HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Eye diseases Neuronal diseases
ICD10:
33
Orphanet: 58
![]() External Ids:
|
NIH Rare Diseases :
52
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 .
MalaCards based summary : Corneal Dystrophy, Avellino Type, also known as avellino corneal dystrophy, is related to corneal dystrophy, lattice type i and interstitial keratitis, and has symptoms including glare - eye symptom An important gene associated with Corneal Dystrophy, Avellino Type is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include cornea and eye, and related phenotypes are reduced visual acuity and lattice corneal dystrophy Disease Ontology : 12 An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has material basis in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface. UniProtKB/Swiss-Prot : 73 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.
More information from OMIM:
607541
|
Human phenotypes related to Corneal Dystrophy, Avellino Type:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:607541UMLS symptoms related to Corneal Dystrophy, Avellino Type:glare - eye symptom |
Interventional clinical trials:
Cochrane evidence based reviews: corneal dystrophy avellino type |
The Foundational Model of Anatomy Ontology organs/tissues related to Corneal Dystrophy, Avellino Type:19
Cornea
MalaCards organs/tissues related to Corneal Dystrophy, Avellino Type:40
Eye
|
Articles related to Corneal Dystrophy, Avellino Type:(show top 50) (show all 93)
|
ClinVar genetic disease variations for Corneal Dystrophy, Avellino Type:6
UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Avellino Type:73
|
Search
GEO
for disease gene expression data for Corneal Dystrophy, Avellino Type.
|
Cellular components related to Corneal Dystrophy, Avellino Type according to GeneCards Suite gene sharing:
Biological processes related to Corneal Dystrophy, Avellino Type according to GeneCards Suite gene sharing:
|
|