MCID: CRN237
MIFTS: 36

Corneal Dystrophy, Avellino Type

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Avellino Type

MalaCards integrated aliases for Corneal Dystrophy, Avellino Type:

Name: Corneal Dystrophy, Avellino Type 53 71 13
Avellino Corneal Dystrophy 53 12 49 55 71 28 51 69
Granular Corneal Dystrophy Type Ii 12 55 71 14
Combined Granular-Lattice Corneal Dystrophy 53 12 71
Granular Corneal Dystrophy Type 2 12 49 55
Cgd2 53 12 71
Cda 53 49 71
Corneal Dystrophy Avellino Type 49 41
Acd 53 71
Combined Granular-Lattice Corneal Dystrophies 49
Granular Corneal Dystrophy, Type Ii; Cgd2 53
Granular and Lattice Corneal Dystrophies 49
Granular-Lattice Corneal Dystrophy 49
Granular Corneal Dystrophy, Type Ii 53
Granular-Lattice Corneal Dystrophy 55
Gcdii 55
Gcd2 55

Characteristics:

Orphanet epidemiological data:

55
granular corneal dystrophy type ii
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

53
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:

31
corneal dystrophy, avellino type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 607541
Disease Ontology 12 DOID:0060444
SNOMED-CT 64 397568004
Orphanet 55 ORPHA98963
MESH via Orphanet 42 C535474
UMLS via Orphanet 70 C1275685
ICD10 via Orphanet 33 H18.5
MedGen 39 C1275685
UMLS 69 C1275685

Summaries for Corneal Dystrophy, Avellino Type

NIH Rare Diseases : 49 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 corneal dystrophy, 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 : 53 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 : 71 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 68)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, reis-bucklers type 30.7 GCDH TBCD TGFBI
2 corneal dystrophy 30.6 CHST6 TGFBI
3 lattice corneal dystrophy 29.6 TBCD TGFBI TGIF1
4 anemia, congenital dyserythropoietic, type iii 12.1
5 anemia, congenital dyserythropoietic, type ia 12.1
6 anemia, congenital dyserythropoietic, type ii 12.0
7 congenital dyserythropoietic anemia 11.8
8 alveolar capillary dysplasia with misalignment of pulmonary veins 11.8
9 alopecia-contractures-dwarfism mental retardation syndrome 11.8
10 dyskeratosis congenita 11.7
11 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 11.7
12 majeed syndrome 11.6
13 anemia, congenital dyserythropoietic, type ib 11.6
14 dyskeratosis congenita, autosomal dominant 6 11.3
15 acrofacial dysostosis, catania type 11.3
16 acute cholinergic dysautonomia 11.3
17 anemia, congenital dyserythropoietic, type iv 11.3
18 allergic contact dermatitis 11.3
19 alveolar capillary dysplasia 11.3
20 leukemia, acute myeloid 11.2
21 alopecia-contractures-dwarfism-intellectual disability syndrome 11.2
22 melanoma, cutaneous malignant 1 11.2
23 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin 11.2
24 dyskeratosis congenita autosomal recessive 11.1
25 immunodeficiency with hyper-igm, type 2 11.1
26 hematologic cancer 11.1
27 refractory hairy cell leukemia 11.1
28 refractory hematologic cancer 11.1
29 corneal dystrophy, congenital stromal 11.0
30 dyskeratosis congenita autosomal dominant 11.0
31 blood group, i system 10.2
32 leukemia 10.2
33 corneal dystrophy, lattice type i 10.1 TGFBI TGIF1
34 keratoconus 10.1
35 corneal neovascularization 10.1
36 corneal granular dystrophy 10.0 GCDH TGFBI
37 degenerative disc disease 10.0
38 cervicitis 10.0
39 chromophobe renal cell carcinoma 10.0
40 renal oncocytoma 10.0
41 dermatitis 9.9
42 contact dermatitis 9.9
43 angioid streaks 9.9
44 hemosiderosis 9.9
45 corneal dystrophy, gelatinous drop-like 9.9 CHST6 TGFBI
46 corneal dystrophy, meesmann 9.9 CHST6 TGFBI
47 corneal endothelial dystrophy 9.8 CHST6 TGFBI
48 epithelial basement membrane dystrophy 9.8 TBCD TGFBI
49 rheumatoid arthritis 9.8
50 leukemia, chronic lymphocytic 2 9.8

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 via clinical synopsis from OMIM:

53
HeadAndNeckEyes:
reduced visual acuity
halos around lights
glare
gray, crumb-like granular deposits in anterior third of stroma
granular deposits replace epithelial basement membrane
more

Clinical features from OMIM:

607541

Human phenotypes related to Corneal Dystrophy, Avellino Type:

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 reduced visual acuity 31 HP:0007663
3 lattice corneal dystrophy 31 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:

# Genetic test Affiliating Genes
1 Avellino Corneal Dystrophy 28 TGFBI

Anatomical Context for Corneal Dystrophy, Avellino Type

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

38
Eye

Publications for Corneal Dystrophy, Avellino Type

Articles related to Corneal Dystrophy, Avellino Type:

(show all 36)
# 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
An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree. ( 22194646 )
2011
5
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. ( 21617530 )
2011
6
TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy. ( 22553661 )
2011
7
Prevalence of granular corneal dystrophy type 2 (Avellino corneal dystrophy) in the Korean population. ( 20455845 )
2010
8
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. ( 20458218 )
2010
9
Clinical findings and treatments of granular corneal dystrophy type 2 (avellino corneal dystrophy): a review of the literature. ( 20724852 )
2010
10
Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy. ( 20202685 )
2010
11
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India. ( 19822856 )
2009
12
Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations. ( 19145249 )
2009
13
Heterozygous Avellino corneal dystrophy 9 years after photorefractive keratectomy: natural or laser-induced accelerated course? ( 19411970 )
2009
14
Femtosecond-assisted lamellar keratoplasty in atypical Avellino corneal dystrophy of Indian origin. ( 19657278 )
2009
15
Genetic associations of common deletion polymorphisms in families with Avellino corneal dystrophy. ( 19622345 )
2009
16
Exacerbation of granular corneal dystrophy type II (Avellino corneal dystrophy) after LASEK. ( 18269147 )
2008
17
Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees. ( 18290950 )
2008
18
Avellino corneal dystrophy worsening after laser in situ keratomileusis: further clinicopathologic observations and proposed pathogenesis. ( 18243154 )
2008
19
Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy. ( 18465714 )
2008
20
Excimer laser exacerbation of Avellino corneal dystrophy. ( 17189809 )
2007
21
Allelic homogeneity in Avellino corneal dystrophy due to a founder effect. ( 17096061 )
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
Avellino corneal dystrophy after LASIK. ( 15019320 )
2004
29
Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy. ( 14767644 )
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
A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families. ( 12812879 )
2003
32
Association of keratoconus and Avellino corneal dystrophy. ( 12598463 )
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

Variations for Corneal Dystrophy, Avellino Type

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

71
# 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

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

Molecular functions related to Corneal Dystrophy, Avellino Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sulfotransferase activity GO:0008146 8.62 CHST6 SULT1C2

Sources for Corneal Dystrophy, Avellino Type

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