CDA
MCID: CRN237
MIFTS: 39

Corneal Dystrophy, Avellino Type (CDA)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Avellino Type

MalaCards integrated aliases for Corneal Dystrophy, Avellino Type:

Name: Corneal Dystrophy, Avellino Type 58 76 13
Avellino Corneal Dystrophy 58 12 54 60 76 30 56 6 74
Granular Corneal Dystrophy Type Ii 12 60 76 15
Combined Granular-Lattice Corneal Dystrophy 58 12 76
Granular Corneal Dystrophy Type 2 12 54 60
Cgd2 58 12 76
Cda 58 54 76
Corneal Dystrophy Avellino Type 54 45
Acd 58 76
Combined Granular-Lattice Corneal Dystrophies 54
Granular Corneal Dystrophy, Type Ii; Cgd2 58
Granular and Lattice Corneal Dystrophies 54
Granular-Lattice Corneal Dystrophy 54
Granular Corneal Dystrophy, Type Ii 58
Granular-Lattice Corneal Dystrophy 60
Gcdii 60
Gcd2 60

Characteristics:

Orphanet epidemiological data:

60
granular corneal dystrophy type ii
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
deposits may recur in graft after corneal transplantation
allelic to groenouw type 1 corneal dystrophy , thiel-behnke corneal dystrophy , lattice type 1 corneal dystrophy , lattice type iiia corneal dystrophy , and reis-bucklers type corneal dystrophy


HPO:

33
corneal dystrophy, avellino type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060444
OMIM 58 607541
MESH via Orphanet 46 C535474
ICD10 via Orphanet 35 H18.5
UMLS via Orphanet 75 C1275685
Orphanet 60 ORPHA98963
MedGen 43 C1275685
UMLS 74 C1275685

Summaries for Corneal Dystrophy, Avellino Type

NIH Rare Diseases : 54 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.

MalaCards based summary : Corneal Dystrophy, Avellino Type, also known as avellino corneal dystrophy, is related to granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii and corneal dystrophy, reis-bucklers type, and has symptoms including glare - eye symptom An important gene associated with Corneal Dystrophy, Avellino Type is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include eye, lung and kidney, and related phenotypes are reduced visual acuity and lattice corneal dystrophy

OMIM : 58 A number sign (#) is used with this entry because the Avellino type of corneal dystrophy (CDA) is caused by mutation in the gene encoding keratoepithelin (TGFBI; 601692). Several other forms of autosomal dominant corneal dystrophy are caused by mutation in this gene, which maps to chromosome 5q31. (607541)

UniProtKB/Swiss-Prot : 76 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 103)
# Related Disease Score Top Affiliating Genes
1 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 32.9 TGFBI TGIF1
2 corneal dystrophy, reis-bucklers type 31.3 GCDH TBCD TGFBI
3 corneal dystrophy 31.3 CHST6 TGFBI TGIF1
4 lattice corneal dystrophy 30.7 TGFBI TGIF1
5 anemia, congenital dyserythropoietic, type iii 12.3
6 anemia, congenital dyserythropoietic, type ia 12.3
7 anemia, congenital dyserythropoietic, type ii 12.2
8 dyskeratosis congenita, autosomal dominant 6 12.2
9 congenital dyserythropoietic anemia 12.0
10 alveolar capillary dysplasia with misalignment of pulmonary veins 12.0
11 alopecia-contractures-dwarfism mental retardation syndrome 11.9
12 alopecia-contractures-dwarfism-intellectual disability syndrome 11.9
13 amyloidosis, primary localized cutaneous, 3 11.9
14 dyskeratosis congenita 11.9
15 majeed syndrome 11.8
16 anemia, congenital dyserythropoietic, type ib 11.8
17 acute cholinergic dysautonomia 11.7
18 alveolar capillary dysplasia 11.7
19 anemia, congenital dyserythropoietic, type iv 11.5
20 allergic contact dermatitis 11.4
21 melanoma, cutaneous malignant 1 11.4
22 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin 11.4
23 dyskeratosis congenita autosomal dominant 11.3
24 dyskeratosis congenita autosomal recessive 11.3
25 immunodeficiency with hyper-igm, type 2 11.2
26 hematologic cancer 11.2
27 central nervous system leukemia 11.2
28 extraosseous osteosarcoma 11.2
29 echolalia 11.2
30 refractory hairy cell leukemia 11.2
31 refractory hematologic cancer 11.2
32 corneal dystrophy, congenital stromal 11.2
33 hereditary lymphedema i 11.2
34 acrofacial dysostosis, catania type 11.1
35 campomelic dysplasia 11.1
36 leukemia 10.4
37 dermatitis 10.3
38 contact dermatitis 10.3
39 keratoconus 10.2
40 corneal neovascularization 10.2
41 chromophobe renal cell carcinoma 10.2
42 renal oncocytoma 10.2
43 hemosiderosis 10.2
44 cardiac arrest 10.2
45 corneal dystrophy, lattice type i 10.1 TGFBI TGIF1
46 cataract 10.1
47 interleukin-7 receptor alpha deficiency 10.1
48 breast cancer 10.1
49 angioid streaks 10.1
50 deficiency anemia 10.1

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

Human phenotypes related to Corneal Dystrophy, Avellino Type:

33
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 33 HP:0007663
2 lattice corneal dystrophy 33 HP:0001149

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
reduced visual acuity
glare
halos around lights
gray, crumb-like granular deposits in anterior third of stroma
granular deposits replace epithelial basement membrane
more

Clinical features from OMIM:

607541

UMLS symptoms related to Corneal Dystrophy, Avellino Type:


glare - eye symptom

MGI Mouse Phenotypes related to Corneal Dystrophy, Avellino Type:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.92 BFSP2 CHST6 TGFBI TGIF1

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:

# Genetic test Affiliating Genes
1 Avellino Corneal Dystrophy 30 TGFBI

Anatomical Context for Corneal Dystrophy, Avellino Type

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

42
Eye, Lung, Kidney, Myeloid, Breast, Endothelial, B Cells

Publications for Corneal Dystrophy, Avellino Type

Articles related to Corneal Dystrophy, Avellino Type:

(show all 42)
# Title Authors Year
1
Sensitive Surface Enhanced Raman Scattering-Based Detection of a BIGH3 Point Mutation Associated with Avellino Corneal Dystrophy. ( 27934116 )
2016
2
Individual phenotypic variances in a family with Avellino corneal dystrophy. ( 23837658 )
2013
3
Sands of sahara after LASIK in avellino corneal dystrophy. ( 22606493 )
2012
4
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. ( 21617530 )
2011
5
An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree. ( 22194646 )
2011
6
TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy. ( 22553661 )
2011
7
Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy. ( 20202685 )
2010
8
Prevalence of granular corneal dystrophy type 2 (Avellino corneal dystrophy) in the Korean population. ( 20455845 )
2010
9
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. ( 20458218 )
2010
10
Clinical findings and treatments of granular corneal dystrophy type 2 (avellino corneal dystrophy): a review of the literature. ( 20724852 )
2010
11
Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations. ( 19145249 )
2009
12
Heterozygous Avellino corneal dystrophy 9 years after photorefractive keratectomy: natural or laser-induced accelerated course? ( 19411970 )
2009
13
Genetic associations of common deletion polymorphisms in families with Avellino corneal dystrophy. ( 19622345 )
2009
14
Femtosecond-assisted lamellar keratoplasty in atypical Avellino corneal dystrophy of Indian origin. ( 19657278 )
2009
15
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India. ( 19822856 )
2009
16
Avellino corneal dystrophy worsening after laser in situ keratomileusis: further clinicopathologic observations and proposed pathogenesis. ( 18243154 )
2008
17
Exacerbation of granular corneal dystrophy type II (Avellino corneal dystrophy) after LASEK. ( 18269147 )
2008
18
Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees. ( 18290950 )
2008
19
Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy. ( 18465714 )
2008
20
Allelic homogeneity in Avellino corneal dystrophy due to a founder effect. ( 17096061 )
2007
21
Excimer laser exacerbation of Avellino corneal dystrophy. ( 17189809 )
2007
22
Homozygous granular corneal dystrophy type II (Avellino corneal dystrophy): natural history and progression after treatment. ( 17893542 )
2007
23
Avellino corneal dystrophy exacerbated after LASIK: scanning electron microscopic findings. ( 16633031 )
2006
24
Exacerbation of Avellino corneal dystrophy after LASIK in North America. ( 16670492 )
2006
25
Preserved peripheral corneal clarity after surgical trauma in patients with Avellino corneal dystrophy. ( 16670497 )
2006
26
Effects of corneal neovascularization on the manifestations of Avellino corneal dystrophy (granular corneal dystrophy type II). ( 17102666 )
2006
27
[Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?]. ( 16380889 )
2005
28
Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy. ( 14767644 )
2004
29
Avellino corneal dystrophy after LASIK. ( 15019320 )
2004
30
An unusual clinical phenotype of Avellino corneal dystrophy associated with an Arg124His beta iG-H3 mutation in an African-American woman. ( 15059726 )
2004
31
Association of keratoconus and Avellino corneal dystrophy. ( 12598463 )
2003
32
A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families. ( 12812879 )
2003
33
Exacerbation of Avellino corneal dystrophy after laser in situ keratomileusis. ( 11862101 )
2002
34
Alteration of the ocular surface with recurrence of granular/avellino corneal dystrophy after phototherapeutic keratectomy: report of five cases and literature review. ( 11297503 )
2001
35
Granular-lattice (Avellino) corneal dystrophy. ( 9838259 )
1999
36
Granular-lattice (Avellino) corneal dystrophy in Japanese patients. ( 9395872 )
1997
37
Combined granular-lattice ('Avellino') corneal dystrophy. ( 9440163 )
1997
38
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. ( 9054935 )
1997
39
Combined granular lattice dystrophy (Avellino corneal dystrophy) ( 8695579 )
1996
40
Avellino corneal dystrophy. ( 8129670 )
1994
41
Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy. ( 8240112 )
1993
42
Avellino corneal dystrophy. Clinical manifestations and natural history. ( 1454323 )
1992

Variations for Corneal Dystrophy, Avellino Type

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

76
# Symbol AA change Variation ID SNP ID
1 TGFBI p.Arg124His VAR_005077 rs121909211

ClinVar genetic disease variations for Corneal Dystrophy, Avellino Type:

6
# 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
2 TGFBI NM_000358.2(TGFBI): c.371G> A (p.Arg124His) single nucleotide variant Pathogenic rs121909211 GRCh38 Chromosome 5, 136046407: 136046407

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

Cellular components related to Corneal Dystrophy, Avellino Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network GO:0005802 8.62 CHST6 TGFBI

Sources for Corneal Dystrophy, Avellino Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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