MCID: CRN237
MIFTS: 31

Corneal Dystrophy, Avellino Type malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Avellino Type

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Sources:
50OMIM, 68UniProtKB/Swiss-Prot, 12diseasecard, 11Disease Ontology, 13DISEASES, 52Orphanet, 46NIH Rare Diseases, 23GeneTests, 48Novoseek, 66UMLS, 25GTR, 37MeSH, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Corneal Dystrophy, Avellino Type:

Name: Corneal Dystrophy, Avellino Type 50 68 12
Avellino Corneal Dystrophy 11 46 23 52 68 48 66
Granular Corneal Dystrophy Type Ii 11 13 52 68
Granular Corneal Dystrophy Type 2 11 46 52
Corneal Dystrophy Avellino Type 46 25 37
Combined Granular-Lattice Corneal Dystrophy 11 68
Granular-Lattice Corneal Dystrophy 23 52
Cgd2 11 68
 
Cda 46 68
Combined Granular-Lattice Corneal Dystrophies 46
Granular and Lattice Corneal Dystrophies 46
Granular-Lattice Corneal Dystrophy 46
Congenital Dyserythropoietic Anemia 66
Gcdii 52
Gcd2 52
Acd 68

Characteristics:

Orphanet epidemiological data:

52
avellino corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

62
corneal dystrophy, avellino type:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 607541
Disease Ontology11 DOID:0060444
Orphanet52 ORPHA98963
SNOMED-CT60 397568004
ICD10 via Orphanet29 H18.5
MESH via Orphanet38 C535474
UMLS via Orphanet67 C1275685
MedGen35 C1275685

Summaries for Corneal Dystrophy, Avellino Type

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NIH Rare Diseases:46 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 glare - eye symptom, glare - eye symptom and visual impairment. An important gene associated with Corneal Dystrophy, Avellino Type is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:68 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.

OMIM:50 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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Diseases related to Corneal Dystrophy, Avellino Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy, reis-bucklers type31.8TGFBI, TGIF1
2acd-related dyskeratosis congenita12.2
3alveolar capillary dysplasia with misalignment of pulmonary veins11.7
4dyserythropoietic anemia, congenital, type ia11.6
5dyserythropoietic anemia, congenital, type ii11.6
6congenital dyserythropoietic anemia11.5
7dyskeratosis congenita, autosomal dominant 611.3
8dyskeratosis congenita11.3
9majeed syndrome11.2
10dyserythropoietic anemia, congenital, type iv11.2
11dyserythropoietic anemia, congenital, type iii11.2
12dyserythropoietic anemia, congenital, type ib11.2
13dyskeratosis congenita autosomal recessive11.1
14xeroderma pigmentosum, group d11.1
15central nervous system leukemia11.1
16refractory hairy cell leukemia11.1
17refractory hematologic cancer11.1
18corneal dystrophy, congenital stromal11.0
19dyskeratosis congenita autosomal dominant11.0
20hoyeraal hreidarsson syndrome11.0
21leukoplakia11.0
22chronic granulomatous disease due to deficiency of ncf-211.0
23acrofacial dysostosis, catania type10.9
24acute cholinergic dysautonomia10.9
25alopecia-contractures-dwarfism-intellectual disability syndrome10.9
26leukemia, acute myeloid10.9
27malignant melanoma, somatic10.9
28allergic contact dermatitis10.6
29alveolar capillary dysplasia10.6
30corneal dystrophy10.5
31alopecia-contractures-dwarfism mental retardation syndrome10.5
32dyskeratosis congenita, autosomal dominant 110.1
33keratoconus10.0
34corneal neovascularization10.0
35corneal deposit10.0
36bacterial esophagitis10.0CHST6, TGFBI
37dermatitis10.0
38contact dermatitis10.0
39apparent mineralocorticoid excess10.0CHST6, TGFBI
40corneal dystrophy, gelatinous drop-like9.9CHST6, TGFBI
41campomelic dysplasia9.9
42epithelial basement membrane dystrophy9.9CHST6, TGFBI
43rheumatoid arthritis9.8
44alopecia9.8
45arthritis9.8
46leukemia9.8
47melanoma9.8
48spondylosis9.8
49cervicitis9.8
50dwarfism9.8

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 visual impairment HP:0000505
2 lattice corneal dystrophy HP:0001149
3 reduced visual acuity HP:0007663

UMLS symptoms related to Corneal Dystrophy, Avellino Type:


glare - eye symptom

Drugs & Therapeutics for Corneal Dystrophy, Avellino Type

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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

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Genetic tests related to Corneal Dystrophy, Avellino Type:

id Genetic test Affiliating Genes
1 Avellino Corneal Dystrophy25 23 TGFBI

Anatomical Context for Corneal Dystrophy, Avellino Type

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

34
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:

68
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)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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GO Terms for genes affiliated with Corneal Dystrophy, Avellino Type

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Sources for Corneal Dystrophy, Avellino Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet