CDA
MCID: CRN237
MIFTS: 30

Corneal Dystrophy, Avellino Type (CDA) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Avellino Type

Aliases & Descriptions for Corneal Dystrophy, Avellino Type:

Name: Corneal Dystrophy, Avellino Type 54 66 13
Avellino Corneal Dystrophy 12 50 24 56 66 52 69
Granular Corneal Dystrophy Type Ii 12 56 66 14
Granular Corneal Dystrophy Type 2 12 50 56
Corneal Dystrophy Avellino Type 50 29 42
Combined Granular-Lattice Corneal Dystrophy 12 66
Granular-Lattice Corneal Dystrophy 24 56
Cgd2 12 66
Cda 50 66
Combined Granular-Lattice Corneal Dystrophies 50
Granular and Lattice Corneal Dystrophies 50
Granular-Lattice Corneal Dystrophy 50
Gcdii 56
Gcd2 56
Acd 66

Characteristics:

Orphanet epidemiological data:

56
granular corneal dystrophy type ii
Inheritance: Autosomal dominant; Age of onset: Childhood;

HPO:

32
corneal dystrophy, avellino type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 607541
Disease Ontology 12 DOID:0060444
SNOMED-CT 64 397568004
Orphanet 56 ORPHA98963
MESH via Orphanet 43 C535474
UMLS via Orphanet 70 C1275685
ICD10 via Orphanet 34 H18.5
MedGen 40 C1275685
UMLS 69 C1275685

Summaries for Corneal Dystrophy, Avellino Type

NIH Rare Diseases : 50 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 acd-related dyskeratosis congenita and dyserythropoietic anemia, congenital, type ia, and has symptoms including visual impairment, reduced visual acuity and lattice corneal dystrophy. An important gene associated with Corneal Dystrophy, Avellino Type is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include eye.

OMIM : 54 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 : 66 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

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

(show top 50) (show all 63)
id Related Disease Score Top Affiliating Genes
1 acd-related dyskeratosis congenita 12.1
2 dyserythropoietic anemia, congenital, type ia 11.8
3 congenital dyserythropoietic anemia 11.7
4 alveolar capillary dysplasia with misalignment of pulmonary veins 11.7
5 dyserythropoietic anemia, congenital, type ii 11.7
6 dyserythropoietic anemia, congenital, type iv 11.6
7 majeed syndrome 11.4
8 dyserythropoietic anemia, congenital, type ib 11.4
9 dyskeratosis congenita, autosomal dominant 6 11.2
10 dyskeratosis congenita 11.1
11 allergic contact dermatitis 11.1
12 alveolar capillary dysplasia 11.1
13 alopecia-contractures-dwarfism mental retardation syndrome 11.1
14 dyserythropoietic anemia, congenital, type iii 11.1
15 chronic granulomatous disease due to deficiency of ncf-2 11.1
16 xeroderma pigmentosum, group d 11.1
17 refractory hairy cell leukemia 11.0
18 hematologic cancer 11.0
19 refractory hematologic cancer 11.0
20 central nervous system leukemia 11.0
21 corneal dystrophy, reis-bucklers type 11.0
22 corneal dystrophy, congenital stromal 11.0
23 dyskeratosis congenita autosomal recessive 11.0
24 dyskeratosis congenita, autosomal dominant 1 10.9
25 immunodeficiency with hyper-igm, type 2 10.9
26 leukemia, acute myeloid 10.9
27 malignant melanoma, somatic 10.9
28 dyskeratosis congenita autosomal dominant 10.9
29 acute cholinergic dysautonomia 10.8
30 alopecia-contractures-dwarfism-intellectual disability syndrome 10.8
31 campomelic dysplasia 10.8
32 acrofacial dysostosis, catania type 10.8
33 corneal dystrophy 10.4
34 apparent mineralocorticoid excess 10.0 CHST6 TGFBI
35 chromosome 1p32-p31 deletion syndrome 10.0 CHST6 TGFBI
36 epidermolysis bullosa simplex, weber-cockayne type 10.0 CHST6 TGFBI
37 chromosome 3q29 microduplication syndrome 10.0 CHST6 TGFBI
38 nut midline carcinoma 10.0 TBCD TGFBI
39 myopathy, myofibrillar, 3 10.0 TBCD TGFBI
40 ciliary dyskinesia, primary, 5 10.0 CHST6 TGFBI
41 desbuquois dysplasia 9.9 CHST6 TGFBI
42 chronic pulmonary heart disease 9.9 GCDH NLGN1 TGFBI
43 keratoconus 9.9
44 corneal neovascularization 9.9
45 corneal deposit 9.9
46 malignant histiocytic disease 9.9 CHST6 TGFBI TGIF1
47 dermatitis 9.9
48 contact dermatitis 9.9
49 venous insufficiency 9.8 CHST6 TGFBI
50 cervix uteri carcinoma in situ 9.8 TBCD TGFBI TGIF1

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

Symptoms by clinical synopsis from OMIM:

607541

Clinical features from OMIM:

607541

Human phenotypes related to Corneal Dystrophy, Avellino Type:

32
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 reduced visual acuity 32 HP:0007663
3 lattice corneal dystrophy 32 HP:0001149

UMLS symptoms related to Corneal Dystrophy, Avellino Type:


glare - eye symptom

Drugs & Therapeutics for Corneal Dystrophy, Avellino Type

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

Cochrane evidence based reviews: corneal dystrophy avellino type

Genetic Tests for Corneal Dystrophy, Avellino Type

Genetic tests related to Corneal Dystrophy, Avellino Type:

id Genetic test Affiliating Genes
1 Avellino Corneal Dystrophy 29 24 TGFBI

Anatomical Context for Corneal Dystrophy, Avellino Type

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

39
Eye

Publications for Corneal Dystrophy, Avellino Type

Variations for Corneal Dystrophy, Avellino Type

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

66
id Symbol AA change Variation ID SNP ID
1 TGFBI p.Arg124His VAR_005077 rs121909211

ClinVar genetic disease variations for Corneal Dystrophy, Avellino Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TGFBI NM_000358.2(TGFBI): c.371G> A (p.Arg124His) single nucleotide variant Pathogenic rs121909211 GRCh37 Chromosome 5, 135382096: 135382096

Expression for Corneal Dystrophy, Avellino Type

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

Pathways for Corneal Dystrophy, Avellino Type

GO Terms for Corneal Dystrophy, Avellino Type

Sources for Corneal Dystrophy, Avellino Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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