MCID: CRN237
MIFTS: 30

Corneal Dystrophy, Avellino Type malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Avellino Type

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Corneal Dystrophy, Avellino Type:

Name: Corneal Dystrophy, Avellino Type 52 70 12
Avellino Corneal Dystrophy 11 48 24 54 70 50 68
Granular Corneal Dystrophy Type Ii 11 54 70 13
Granular Corneal Dystrophy Type 2 11 48 54
Corneal Dystrophy Avellino Type 48 27 39
Combined Granular-Lattice Corneal Dystrophy 11 70
Granular-Lattice Corneal Dystrophy 24 54
Cgd2 11 70
 
Cda 48 70
Combined Granular-Lattice Corneal Dystrophies 48
Granular and Lattice Corneal Dystrophies 48
Granular-Lattice Corneal Dystrophy 48
Congenital Dyserythropoietic Anemia 68
Gcdii 54
Gcd2 54
Acd 70

Characteristics:

Orphanet epidemiological data:

54
avellino corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

64
corneal dystrophy, avellino type:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 607541
Disease Ontology11 DOID:0060444
Orphanet54 ORPHA98963
SNOMED-CT62 397568004
MESH via Orphanet40 C535474
UMLS via Orphanet69 C1275685
ICD10 via Orphanet31 H18.5
MedGen37 C1275685

Summaries for Corneal Dystrophy, Avellino Type

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NIH Rare Diseases:48 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:52 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:70 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 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 & Phenotypes for Corneal Dystrophy, Avellino Type

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Symptoms by clinical synopsis from OMIM:

607541

Clinical features from OMIM:

607541

Human phenotypes related to Corneal Dystrophy, Avellino Type:

 64
id Description HPO Frequency HPO Source Accession
1 visual impairment64 HP:0000505
2 lattice corneal dystrophy64 HP:0001149
3 reduced visual acuity64 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 Dystrophy27 24 TGFBI

Anatomical Context for Corneal Dystrophy, Avellino Type

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

36
Eye

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:

70
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

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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet