Corneal Dystrophy Avellino Type malady

NIH Rare Diseases: 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.³⁰

MalaCards: Corneal Dystrophy Avellino Type, also known as avellino corneal dystrophy, is related to corneal dystrophy and lattice corneal dystrophy. An important gene associated with Corneal Dystrophy Avellino Type is TGFBI (transforming growth factor, beta-induced, 68kDa). Affiliated tissues include skin.

Genetics Home Reference: Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and other complications.¹⁷

Wikipedia: Granular corneal dystrophy type II (CGD2), also called Avellino corneal dystrophy (ACD) or combined...⁴⁴ more...

OMIM: 607541

corneal dystrophy avellino type 30 avellino corneal dystrophy 30 16 32 43 granular and lattice corneal dystrophies 30 16 granular-lattice (avellino) corneal dystrophy 30 combined granular-lattice corneal dystrophies 30

granular corneal dystrophy type 2 30 corneal dystrophy, avellino type 33 corneal dystrophy 43 cda 30

Diseases related to corneal dystrophy avellino type by text searches and GeneDecks gene sharing:

(show top 50)    (show all 96)

id	Related Disease	Score	Top Affiliating Genes
1	corneal dystrophy	13.4
2	lattice corneal dystrophy	11.2
3	macular corneal dystrophy	10.5
4	meesmann corneal dystrophy	10.5
5	congenital stromal corneal dystrophy	9.8
6	posterior polymorphous corneal dystrophy	9.8
7	lattice corneal dystrophy type ii	9.7
8	lattice corneal dystrophy type 1	9.5
9	epithelial basement membrane corneal dystrophy	9.4
10	macular dystrophy, corneal type 1	9.2
11	amyloidosis corneal	8.7
12	corneal dystrophy crystalline of schnyder	8.7
13	corneal dystrophy of bowman layer type 1	8.7
14	groenouw type i corneal dystrophy	8.7
15	corneal dystrophy and perceptive deafness	8.5
16	corneal dystrophy fuchs endothelial 1	8.5
17	corneal dystrophy thiel behnke type	8.5
18	leukemia	8.4
19	fuchs' endothelial dystrophy	8.3
20	lattice corneal dystrophy type iiia	8.3
21	chandler syndrome	8.1
22	corneal dystrophy, lisch epithelial	8.1
23	corneal dystrophy, endothelial, x-linked	8.1
24	corneal granular dystrophy	7.8
25	corneal fleck dystrophy	7.8
26	corneal dystrophy polymorphous posterior, 2	7.8
27	corneal dystrophy, posterior polymorphous, 3	7.8
28	corneal dystrophy, fuchs endothelial, 7	7.4
29	corneal dystrophy, fuchs endothelial, 4	7.4
30	corneal dystrophy, fuchs endothelial, 6	7.4
31	corneal dystrophy, hereditary polymorphous posterior	7.4
32	finnish type amyloidosis	7.4
33	lattice corneal dystrophy type 3a	7.4
34	spinocerebellar degeneration and corneal dystrophy	7.4
35	amyloidosis	7.4
36	corneal dystrophy ichthyosis microcephaly mental retardation	7.4
37	corneal dystrophy pigmentary anomaly malabsorption	7.4
38	corneodermatoosseous syndrome	7.4
39	corneal dystrophy, fuchs endothelial, late onset 1	7.4
40	corneal dystrophy, fuchs endothelial, 3	7.4
41	corneal dystrophy, fuchs endothelial, 5	7.4
42	congenital dyserythropoietic anemia	7.4
43	t-cell leukemia	7.4
44	congenital dyserythropoietic anemia type i	7.1
45	corneal endothelial dystrophy type 2	6.9
46	corneal endothelial dystrophy 2, autosomal recessive	6.9
47	cataract with late-onset corneal dystrophy	6.9
48	mousa al din al nassar syndrome	6.9
49	recurrent corneal erosion	6.9
50	rutherfurd syndrome	6.9

Clinical features from OMIM: 607541

Approved drugs:

Drug clinical trials:

Genetic tests related to corneal dystrophy avellino type:

id	Genetic test	Affiliating Genes
1	Corneal Dystrophy Avellino Type clinical/research	TGFBI

MalaCards organs/tissues related to corneal dystrophy avellino type:

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Genes related to corneal dystrophy avellino type according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	TGFBI	transforming growth factor, beta-induced, 68kDa	11.1	Disorders