CDA
MCID: CRN237
MIFTS: 38

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 57 12 74 13
Avellino Corneal Dystrophy 57 12 53 59 74 29 55 6 72
Combined Granular-Lattice Corneal Dystrophy 57 12 74
Granular Corneal Dystrophy Type Ii 59 74 15
Granular Corneal Dystrophy Type 2 12 53 59
Cgd2 57 12 74
Cda 57 53 74
Corneal Dystrophy Avellino Type 53 44
Acd 57 74
Combined Granular-Lattice Corneal Dystrophies 53
Granular Corneal Dystrophy, Type Ii; Cgd2 57
Granular and Lattice Corneal Dystrophies 53
Granular-Lattice Corneal Dystrophy 53
Granular Corneal Dystrophy, Type Ii 57
Granular-Lattice Corneal Dystrophy 59
Granular Corneal Dystrophy 2 12
Gcdii 59
Gcd2 59

Characteristics:

Orphanet epidemiological data:

59
granular corneal dystrophy type ii
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
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:

32
corneal dystrophy, avellino type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060444
OMIM 57 607541
MESH via Orphanet 45 C535474
ICD10 via Orphanet 34 H18.5
UMLS via Orphanet 73 C1275685
Orphanet 59 ORPHA98963
MedGen 42 C1275685
UMLS 72 C1275685

Summaries for Corneal Dystrophy, Avellino Type

NIH Rare Diseases : 53 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 lattice corneal dystrophy, 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 cornea and eye, and related phenotypes are reduced visual acuity and lattice corneal dystrophy

Disease Ontology : 12 An corneal granular dystrophy that is characterized by recurrent erosions and stellate or "thorn-like" opacification located in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has material basis in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface.

OMIM : 57 A number sign (#) is used with this entry because of evidence that the Avellino type of corneal dystrophy (CDA) is caused by heterozygous mutation in the gene encoding keratoepithelin (TGFBI; 601692) on chromosome 5q31. Several other forms of autosomal dominant corneal dystrophy are caused by mutation in the TGFBI gene. (607541)

UniProtKB/Swiss-Prot : 74 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 188)
# Related Disease Score Top Affiliating Genes
1 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 32.4 TGIF1 TGFBI
2 lattice corneal dystrophy 31.2 TGIF1 TGFBI
3 corneal dystrophy, reis-bucklers type 31.1 TGFBI TBCD GCDH
4 corneal dystrophy 31.1 TGIF1 TGFBI CHST6
5 corneal dystrophy, lattice type i 30.7 TGIF1 TGFBI
6 corneal disease 29.6 TGFBI CHST6
7 anemia, congenital dyserythropoietic, type iii 12.4
8 anemia, congenital dyserythropoietic, type ia 12.4
9 congenital dyserythropoietic anemia 12.4
10 anemia, congenital dyserythropoietic, type ii 12.3
11 alveolar capillary dysplasia with misalignment of pulmonary veins 12.3
12 dyskeratosis congenita, autosomal dominant 6 12.3
13 dyskeratosis congenita 12.2
14 alopecia-contractures-dwarfism mental retardation syndrome 12.1
15 amyloidosis, primary localized cutaneous, 3 12.0
16 alopecia-contractures-dwarfism-intellectual disability syndrome 12.0
17 majeed syndrome 11.9
18 anemia, congenital dyserythropoietic, type ib 11.9
19 alveolar capillary dysplasia 11.8
20 allergic contact dermatitis 11.8
21 hoyeraal hreidarsson syndrome 11.7
22 anemia, congenital dyserythropoietic, type iv 11.6
23 melanoma, cutaneous malignant 1 11.5
24 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin 11.5
25 dyskeratosis congenita autosomal dominant 11.4
26 dyskeratosis congenita autosomal recessive 11.4
27 hematologic cancer 11.4
28 extraosseous osteosarcoma 11.4
29 echolalia 11.4
30 refractory hairy cell leukemia 11.4
31 refractory hematologic cancer 11.4
32 corneal dystrophy, congenital stromal 11.3
33 drug-induced lupus erythematosus 11.3
34 hereditary lymphedema 11.3
35 hereditary lymphedema i 11.3
36 acrofacial dysostosis, catania type 11.2
37 acute cholinergic dysautonomia 11.2
38 campomelic dysplasia 11.2
39 granular corneal dystrophy 10.8
40 myopia 10.5
41 deficiency anemia 10.5
42 cardiac arrest 10.4
43 hemosiderosis 10.4
44 rare hereditary hemochromatosis 10.4
45 contact dermatitis 10.4
46 leukemia, chronic lymphocytic 10.4
47 lymphocytic leukemia 10.4
48 leukemia, b-cell, chronic 10.4
49 ventricular fibrillation, paroxysmal familial, 1 10.3
50 leukemia, acute myeloid 10.3

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:

32
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 32 HP:0007663
2 lattice corneal dystrophy 32 HP:0001149

Symptoms via clinical synopsis from OMIM:

57
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:

46
# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cross-Sectional Study of the Prevalence of TGFBI Corneal Dystrophies Unknown status NCT02746055

Search 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 29 TGFBI

Anatomical Context for Corneal Dystrophy, Avellino Type

The Foundational Model of Anatomy Ontology organs/tissues related to Corneal Dystrophy, Avellino Type:

19
Cornea

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

41
Eye

Publications for Corneal Dystrophy, Avellino Type

Articles related to Corneal Dystrophy, Avellino Type:

(show top 50) (show all 92)
# Title Authors PMID Year
1
An unusual clinical phenotype of Avellino corneal dystrophy associated with an Arg124His beta iG-H3 mutation in an African-American woman. 38 8 71
15059726 2004
2
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. 8 71
9054935 1997
3
Allelic homogeneity in Avellino corneal dystrophy due to a founder effect. 9 38 8
17096061 2007
4
Avellino corneal dystrophy after LASIK. 38 8
15019320 2004
5
Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. 38 8
11024425 2000
6
Granular-lattice (Avellino) corneal dystrophy. 38 8
9838259 1999
7
Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations. 38 8
9727418 1998
8
Combined granular lattice dystrophy (Avellino corneal dystrophy) 38 8
8695579 1996
9
Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy. 38 8
8240112 1993
10
Avellino corneal dystrophy. Clinical manifestations and natural history. 38 8
1454323 1992
11
BIGH3 mutation spectrum in corneal dystrophies. 8
11923233 2002
12
Molecular properties of wild-type and mutant betaIG-H3 proteins. 8
11867580 2002
13
Three autosomal dominant corneal dystrophies map to chromosome 5q. 8
8136834 1994
14
Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of these families. 8
3278259 1988
15
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. 9 38
20458218 2010
16
Detection of the most common corneal dystrophies caused by BIGH3 gene point mutations using a multispot gold-capped nanoparticle array chip. 9 38
20092310 2010
17
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India. 9 38
19822856 2009
18
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies. 9 38
19461933 2009
19
[TGFBI gene mutations in three Chinese families with autosomal dominant corneal dystrophy]. 9 38
19350511 2009
20
Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations. 9 38
19145249 2009
21
Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees. 9 38
18290950 2008
22
In vivo laser confocal microscopic findings of corneal stromal dystrophies. 9 38
17846354 2007
23
[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?]. 9 38
16380889 2005
24
[Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies]. 9 38
14767905 2004
25
Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy. 9 38
14767644 2004
26
[The pathogenesis and treatment of corneal disorders]. 9 38
12610836 2002
27
Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies. 9 38
11095060 2000
28
The spectrum of beta ig-h3 gene mutations in Japanese patients with corneal dystrophy. 9 38
10832717 2000
29
Gelatinous drop-like corneal dystrophy is not one of the beta ig-h3-mutated corneal amyloidoses. 9 38
9860011 1998
30
TGFBI-associated corneal dystrophy and nephropathy: a novel syndrome? 38
30088155 2019
31
Analysis of TGFBI Gene Mutations in Three Chinese Families with Corneal Dystrophy. 38
30805211 2019
32
Sensitive Surface Enhanced Raman Scattering-Based Detection of a BIGH3 Point Mutation Associated with Avellino Corneal Dystrophy. 38
27934116 2016
33
Histone methylation levels correlate with TGFBIp and extracellular matrix gene expression in normal and granular corneal dystrophy type 2 corneal fibroblasts. 38
26553048 2015
34
[Analyses of TGFBI gene mutation spectrum in four Chinese families with corneal dystrophy]. 38
25876897 2015
35
Update on contraindications for laser-assisted in situ keratomileusis and photorefractive keratectomy. 38
24837576 2014
36
Individual phenotypic variances in a family with Avellino corneal dystrophy. 38
23837658 2013
37
Pharmacological therapies for cataract and refractive errors: landscaping niches of ocular drug patenting. 38
24236781 2012
38
Sands of sahara after LASIK in avellino corneal dystrophy. 38
22606493 2012
39
TGFBI and CHST6 gene analysis in Chinese stromal corneal dystrophies. 38
22773977 2012
40
Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies. 38
21887843 2011
41
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. 38
21617530 2011
42
Detection of single nucleotide polymorphisms by a gold nanowire-on-film SERS sensor coupled with S1 nuclease treatment. 38
21681837 2011
43
Genome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosome 3q26.3. 38
21628991 2011
44
Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy. 38
21462384 2011
45
An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree. 38
22194646 2011
46
TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy. 38
22553661 2011
47
Granular and lattice deposits in corneal dystrophy caused by R124C mutation of TGFBIp. 38
20697279 2010
48
Clinical findings and treatments of granular corneal dystrophy type 2 (avellino corneal dystrophy): a review of the literature. 38
20724852 2010
49
Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy. 38
20202685 2010
50
Prevalence of granular corneal dystrophy type 2 (Avellino corneal dystrophy) in the Korean population. 38
20455845 2010

Variations for Corneal Dystrophy, Avellino Type

ClinVar genetic disease variations for Corneal Dystrophy, Avellino Type:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TGFBI NM_000358.3(TGFBI): c.371G> A (p.Arg124His) single nucleotide variant Pathogenic rs121909211 5:135382096-135382096 5:136046407-136046407

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

74
# Symbol AA change Variation ID SNP ID
1 TGFBI p.Arg124His VAR_005077 rs121909211

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 TGFBI CHST6

Sources for Corneal Dystrophy, Avellino Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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