CDA
MCID: CRN061
MIFTS: 29

Corneal Dystrophy Avellino Type (CDA) malady

Eye diseases category

Summaries for Corneal Dystrophy Avellino Type

About this section
Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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: Corneal Dystrophy Avellino Type, also known as avellino corneal dystrophy, is related to congenital dyserythropoietic anemia and corneal dystrophy. An important gene associated with Corneal Dystrophy Avellino Type is TGFBI (transforming growth factor, beta-induced, 68kDa). Affiliated tissues include eye.

Wikipedia:63 Granular corneal dystrophy is a slowly progressive corneal dystrophy that most often begins in early... more...

Description from OMIM:46 607541

Aliases & Classifications for Corneal Dystrophy Avellino Type

About this section
Sources:
60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
avellino corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

corneal dystrophy avellino type 42
avellino corneal dystrophy 42 20 22 44 48 60
granular corneal dystrophy type 2 42 48
combined granular-lattice corneal dystrophies 42
granular and lattice corneal dystrophies 42
congenital dyserythropoietic anemia 60
granular corneal dystrophy type ii 48
granular-lattice corneal dystrophy 48
corneal dystrophy, avellino type 46
gcdii 48
gcd2 48
cda 42


External Ids:

OMIM46 607541
MESH via Orphanet35 C535474
ICD10 via Orphanet26 H18.5
SNOMED-CT via Orphanet57 397568004
UMLS via Orphanet61 C1275685

Related Diseases for Corneal Dystrophy Avellino Type

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Corneal Dystrophy Avellino Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1congenital dyserythropoietic anemia11.3
2corneal dystrophy11.0
3congenital dyserythropoietic anemia type i11.0
4corneal granular dystrophy10.8
5congenital dyserythropoietic anemia type iv10.7
6congenital dyserythropoietic anemia type 310.6
7lattice corneal dystrophy10.6
8congenital dyserythropoietic anemia type 210.6
9majeed syndrome10.6
10hemochromatosis10.5
11thalassemia10.5
12corneal deposit10.4
13thrombocytopenia, x-linked, with or without dyserythropoietic anemia10.4
14deficiency anemia10.3
15beta thalassemia10.3
16congenital hemolytic anemia10.3
17hemolytic anemia10.3
18neonatal anemia10.3
19osteomyelitis10.3
20sideroblastic anemia10.3
21cataract10.3
22corneal neovascularization10.3
23acute leukemia10.2
24childhood leukemia10.2
25gout10.2
26dyskeratosis congenita10.2
27piebaldism10.2
28pulmonary alveolar proteinosis10.2
29priapism10.2
30dubin-johnson syndrome10.2
31aplastic anemia10.2
32chromosomal disease10.2
33hairy cell leukemia10.2
34leukemia10.2
35mediastinitis10.2
36hemochromatosis type 210.2
37acute myeloid leukemia10.1
38lung cancer10.1
39lymphoblastic leukemia10.1
40myeloid leukemia10.1
41neutropenia10.1
42systemic lupus erythematosus10.0
43down syndrome10.0
44adenocarcinoma10.0
45arthritis10.0
46chronic lymphocytic leukemia10.0
47esophagitis10.0
48lupus erythematosus10.0
49neuroblastoma10.0
50ovarian cancer10.0

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



Diseases related to corneal dystrophy avellino type

Clinical Features for Corneal Dystrophy Avellino Type

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

607541

Clinical synopsis from OMIM:

607541

Drugs & Therapeutics for Corneal Dystrophy Avellino Type

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Corneal Dystrophy Avellino Type

Drug clinical trials:

Search ClinicalTrials for Corneal Dystrophy Avellino Type

Search NIH Clinical Center for Corneal Dystrophy Avellino Type

Search CenterWatch for Corneal Dystrophy Avellino Type

Genetic Tests for Corneal Dystrophy Avellino Type

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Corneal Dystrophy Avellino Type:

32
Eye

Animal Models for Corneal Dystrophy Avellino Type or affiliated genes

About this section

Publications for Corneal Dystrophy Avellino Type

About this section

Genetic Variations for Corneal Dystrophy Avellino Type

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Corneal Dystrophy Avellino Type:

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

Expression for genes affiliated with Corneal Dystrophy Avellino Type

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Corneal Dystrophy Avellino Type

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

Pathways for genes affiliated with Corneal Dystrophy Avellino Type

About this section

Compounds for genes affiliated with Corneal Dystrophy Avellino Type

About this section

GO Terms for genes affiliated with Corneal Dystrophy Avellino Type

About this section

Products for genes affiliated with Corneal Dystrophy Avellino Type

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Corneal Dystrophy Avellino Type

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet