MCID: CRN237
MIFTS: 26

Corneal Dystrophy, Avellino Type malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Corneal Dystrophy, Avellino Type

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Corneal Dystrophy, Avellino Type, Aliases & Descriptions:

Name: Corneal Dystrophy, Avellino Type 45 10
Avellino Corneal Dystrophy 41 20 43 47 22 60
Granular-Lattice Corneal Dystrophy 41 47
Granular Corneal Dystrophy Type Ii 41 47
Granular Corneal Dystrophy Type 2 41 47
Gcdii 41 47
Gcd2 41 47
 
Combined Granular-Lattice Corneal Dystrophies 41
Granular and Lattice Corneal Dystrophies 41
Granular-Lattice Corneal Dystrophy 41
Congenital Dyserythropoietic Anemia 60
Corneal Dystrophy Avellino Type 41
Cda 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
avellino corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM45 607541
Orphanet47 98963
MESH via Orphanet34 C535474
ICD10 via Orphanet26 H18.5
UMLS via Orphanet61 C1275685

Summaries for Corneal Dystrophy, Avellino Type

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NIH Rare Diseases:41 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 and congenital dyserythropoietic anemia, and has symptoms including autosomal dominant inheritance, visual impairment and lattice corneal dystrophy. An important gene associated with Corneal Dystrophy, Avellino Type is TGFBI (transforming growth factor, beta-induced, 68kDa). Affiliated tissues include eye.

OMIM:45 A number sign (#) is used with this entry because the Avellino type of corneal dystrophy (CDA) is caused by mutation in... (607541) more...

Related Diseases for Corneal Dystrophy, Avellino Type

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Graphical network of the top 20 diseases related to Corneal Dystrophy, Avellino Type:



Diseases related to corneal dystrophy, avellino type

Symptoms for Corneal Dystrophy, Avellino Type

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Symptoms by clinical synopsis from OMIM:

607541

Clinical features from OMIM:

607541

HPO human phenotypes related to Corneal Dystrophy, Avellino Type:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 visual impairment HP:0000505
3 lattice corneal dystrophy HP:0001149

Drugs & Therapeutics for Corneal Dystrophy, Avellino Type

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Drug clinical trials:

Search ClinicalTrials for Corneal Dystrophy, Avellino Type

Search NIH Clinical Center for Corneal Dystrophy, Avellino Type

Genetic Tests for Corneal Dystrophy, Avellino Type

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Genetic tests related to Corneal Dystrophy, Avellino Type:

id Genetic test Affiliating Genes
1 Avellino Corneal Dystrophy20 22 TGFBI

Anatomical Context for Corneal Dystrophy, Avellino Type

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MalaCards organs/tissues related to Corneal Dystrophy, Avellino Type:

31
Eye

Animal Models for Corneal Dystrophy, Avellino Type or affiliated genes

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Publications for Corneal Dystrophy, Avellino Type

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Variations for Corneal Dystrophy, Avellino Type

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UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Avellino Type:

62
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg124HisVAR_005077

Clinvar genetic disease variations for Corneal Dystrophy, Avellino Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1TGFBINM_000358.2(TGFBI): c.371G> A (p.Arg124His)single nucleotide variantPathogenicrs121909211GRCh37Chr 5, 135382096: 135382096

Expression for genes affiliated with Corneal Dystrophy, Avellino Type

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Search GEO for disease gene expression data for Corneal Dystrophy, Avellino Type.

Pathways for genes affiliated with Corneal Dystrophy, Avellino Type

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Compounds for genes affiliated with Corneal Dystrophy, Avellino Type

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GO Terms for genes affiliated with Corneal Dystrophy, Avellino Type

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Products for genes affiliated with Corneal Dystrophy, Avellino Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Corneal Dystrophy, Avellino Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet