MCID: CRN237
MIFTS: 30

Corneal Dystrophy, Avellino Type malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Avellino Type

About this section
Sources:
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
See all MalaCards sources

Aliases & Descriptions for Corneal Dystrophy, Avellino Type:

Name: Corneal Dystrophy, Avellino Type 51 69 12
Avellino Corneal Dystrophy 11 47 24 53 69 49 67
Granular Corneal Dystrophy Type Ii 11 53 69 13
Granular Corneal Dystrophy Type 2 11 47 53
Corneal Dystrophy Avellino Type 47 26 38
Combined Granular-Lattice Corneal Dystrophy 11 69
Granular-Lattice Corneal Dystrophy 24 53
Cgd2 11 69
 
Cda 47 69
Combined Granular-Lattice Corneal Dystrophies 47
Granular and Lattice Corneal Dystrophies 47
Granular-Lattice Corneal Dystrophy 47
Congenital Dyserythropoietic Anemia 67
Gcdii 53
Gcd2 53
Acd 69

Characteristics:

Orphanet epidemiological data:

53
avellino corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

63
corneal dystrophy, avellino type:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

OMIM51 607541
Disease Ontology11 DOID:0060444
Orphanet53 ORPHA98963
SNOMED-CT61 397568004
MESH via Orphanet39 C535474
UMLS via Orphanet68 C1275685
ICD10 via Orphanet30 H18.5
MedGen36 C1275685

Summaries for Corneal Dystrophy, Avellino Type

About this section
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.

Related Diseases for Corneal Dystrophy, Avellino Type

About this section

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

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy, reis-bucklers type31.6TGFBI, TGIF1
2acd-related dyskeratosis congenita12.1
3dyserythropoietic anemia, congenital, type ia11.8
4congenital dyserythropoietic anemia11.7
5alveolar capillary dysplasia with misalignment of pulmonary veins11.7
6dyserythropoietic anemia, congenital, type ii11.7
7dyserythropoietic anemia, congenital, type iv11.6
8majeed syndrome11.4
9dyserythropoietic anemia, congenital, type ib11.4
10dyskeratosis congenita, autosomal dominant 611.2
11dyskeratosis congenita11.1
12allergic contact dermatitis11.1
13alveolar capillary dysplasia11.1
14alopecia-contractures-dwarfism mental retardation syndrome11.1
15dyserythropoietic anemia, congenital, type iii11.1
16chronic granulomatous disease due to deficiency of ncf-211.1
17dyskeratosis congenita autosomal recessive11.0
18dyskeratosis congenita, autosomal dominant 110.9
19xeroderma pigmentosum, group d10.9
20hematologic cancer10.9
21central nervous system leukemia10.9
22refractory hairy cell leukemia10.9
23refractory hematologic cancer10.9
24corneal dystrophy, congenital stromal10.9
25dyskeratosis congenita autosomal dominant10.9
26campomelic dysplasia10.8
27acrofacial dysostosis, catania type10.8
28acute cholinergic dysautonomia10.8
29alopecia-contractures-dwarfism-intellectual disability syndrome10.8
30leukemia, acute myeloid10.8
31malignant melanoma, somatic10.8
32corneal dystrophy10.4
33bacterial esophagitis10.0CHST6, TGFBI
34apparent mineralocorticoid excess9.9CHST6, TGFBI
35corneal dystrophy, gelatinous drop-like9.9CHST6, TGFBI
36keratoconus9.9
37corneal neovascularization9.9
38corneal deposit9.9
39epidermolysis bullosa simplex, weber-cockayne type9.9CHST6, TGFBI
40dermatitis9.9
41contact dermatitis9.9
42acute serous otitis media9.8CHST6, TGFBI
43cerebral artery occlusion9.7CHST6, TGFBI
44rheumatoid arthritis9.7
45alopecia9.7
46arthritis9.7
47leukemia9.7
48spondylosis9.7
49cervicitis9.7
50dwarfism9.7

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

About this section

Symptoms by clinical synopsis from OMIM:

607541

Clinical features from OMIM:

607541

Human phenotypes related to Corneal Dystrophy, Avellino Type:

 63
id Description HPO Frequency HPO Source Accession
1 visual impairment63 HP:0000505
2 lattice corneal dystrophy63 HP:0001149
3 reduced visual acuity63 HP:0007663

UMLS symptoms related to Corneal Dystrophy, Avellino Type:


glare - eye symptom

Drugs & Therapeutics for Corneal Dystrophy, Avellino Type

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Corneal Dystrophy, Avellino Type


Cochrane evidence based reviews: corneal dystrophy avellino type

Genetic Tests for Corneal Dystrophy, Avellino Type

About this section

Genetic tests related to Corneal Dystrophy, Avellino Type:

id Genetic test Affiliating Genes
1 Avellino Corneal Dystrophy26 24 TGFBI

Anatomical Context for Corneal Dystrophy, Avellino Type

About this section

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

35
Eye

Animal Models for Corneal Dystrophy, Avellino Type or affiliated genes

About this section

Publications for Corneal Dystrophy, Avellino Type

About this section

Variations for Corneal Dystrophy, Avellino Type

About this section

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

69
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg124HisVAR_005077rs121909211

Clinvar genetic disease variations for Corneal Dystrophy, Avellino Type:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TGFBINM_000358.2(TGFBI): c.371G> A (p.Arg124His)SNVPathogenicrs121909211GRCh37Chr 5, 135382096: 135382096

Expression for genes affiliated with Corneal Dystrophy, Avellino Type

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

Pathways for genes affiliated with Corneal Dystrophy, Avellino Type

About this section

GO Terms for genes affiliated with Corneal Dystrophy, Avellino Type

About this section

Sources for Corneal Dystrophy, Avellino Type

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet