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:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 27ICD10, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
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Aliases & Descriptions for Corneal Dystrophy, Avellino Type:

Name: Corneal Dystrophy, Avellino Type 49 11 67
Avellino Corneal Dystrophy 10 45 22 47 51 67 65
Granular Corneal Dystrophy Type Ii 10 12 51 67
Granular Corneal Dystrophy Type 2 10 45 51
Corneal Dystrophy Avellino Type 45 36 24
Combined Granular-Lattice Corneal Dystrophy 10 67
Granular-Lattice Corneal Dystrophy 22 51
Cgd2 10 67
 
Cda 45 67
Combined Granular-Lattice Corneal Dystrophies 45
Granular and Lattice Corneal Dystrophies 45
Granular-Lattice Corneal Dystrophy 45
Congenital Dyserythropoietic Anemia 65
Gcdii 51
Gcd2 51
Acd 67

Characteristics:

Orphanet epidemiological data:

51
avellino corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

61
corneal dystrophy, avellino type:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

OMIM49 607541
Disease Ontology10 DOID:0060444
ICD1027 H18.5
Orphanet51 98963
ICD10 via Orphanet28 H18.5
MESH via Orphanet37 C535474
UMLS via Orphanet66 C1275685
MedGen34 C1275685
UMLS65 C1275685

Summaries for Corneal Dystrophy, Avellino Type

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NIH Rare Diseases:45 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 cervicitis, 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:49 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:67 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

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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 109)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy, reis-bucklers type32.3TGFBI, TGIF1
2cervicitis30.4CHST6, TGFBI
3acd-related dyskeratosis congenita12.6
4dyserythropoietic anemia, congenital, type ia12.0
5dyserythropoietic anemia, congenital, type ii12.0
6alveolar capillary dysplasia with misalignment of pulmonary veins11.9
7dyskeratosis congenita, autosomal dominant 611.7
8congenital dyserythropoietic anemia11.6
9majeed syndrome11.6
10dyskeratosis congenita11.6
11dyserythropoietic anemia, congenital, type iv11.6
12dyserythropoietic anemia, congenital, type iii11.6
13dyserythropoietic anemia, congenital, type ib11.6
14chronic granulomatous disease due to deficiency of ncf-211.6
15dyskeratosis congenita autosomal recessive11.5
16xeroderma pigmentosum, group d11.4
17hematologic cancer11.4
18plasma protein metabolism disease11.4
19mast-cell sarcoma11.4
20refractory hairy cell leukemia11.4
21refractory hematologic cancer11.4
22corneal dystrophy, congenital stromal11.4
23dyskeratosis congenita autosomal dominant11.4
24acrofacial dysostosis, catania type11.3
25acute cholinergic dysautonomia11.3
26alopecia-contractures-dwarfism-intellectual disability syndrome11.3
27leukemia, acute myeloid11.3
28malignant melanoma, somatic11.3
29hereditary isolated aplastic anemia11.3
30dyskeratosis congenita, autosomal dominant 110.5
31asthma10.4
32atherosclerosis10.4
33polycystic ovary syndrome10.4
34spinal cord injury10.4
35glucose intolerance10.4
36cerebritis10.4
37cervical squamous cell carcinoma10.3
38chromophobe renal cell carcinoma10.3
39renal oncocytoma10.3
40campomelic dysplasia10.3
41allergic contact dermatitis10.3
42alveolar capillary dysplasia10.3
43colorectal cancer10.3
44kwashiorkor10.3
45hepatopulmonary syndrome10.3
46coloboma10.3
47ovarian cancer10.3
48schizophrenia10.3
49rheumatoid arthritis10.3
50medulloblastoma10.3

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

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 Dystrophy22 TGFBI

Anatomical Context for Corneal Dystrophy, Avellino Type

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

33
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:

67
id Symbol AA change Variation ID SNP ID
1TGFBIp.Arg124HisVAR_005077

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet