Meesmann Corneal Dystrophy malady

NIH Rare Diseases: Meesmann corneal dystrophy is a rare genetic condition affecting the epithelial membrane of the cornea. A slit-lamp examination of the cornea shows diffuse clusters of tiny round cysts in the epithelial membrane.  Overtime these cysts can rupture and cause erosions. The erosions may result in light sensitivity, redness, and pain. Vision remains good in most cases. Meesmann corneal dystrophy can be caused by mutations in the KRT3 or KRT12 gene. It is inherited in an autosomal dominant fashion. Click here to view an image of the eye which includes an illustration of the epithelial membrane of the cornea.³⁰

MalaCards: Meesmann Corneal Dystrophy, also known as corneal dystrophy, juvenile epithelial of meesmann, is related to corneal dystrophy and corneal disease. An important gene associated with Meesmann Corneal Dystrophy is KRT12 (keratin 12). The compounds arginine and proline have been mentioned in the context of this disorder.

Genetics Home Reference: Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. This condition is characterized by the formation of tiny round cysts in the outermost layer of the cornea, called the corneal epithelium. This part of the cornea acts as a barrier to help prevent foreign materials, such as dust and bacteria, from entering the eye.¹⁷

Wikipedia: Meesmann juvenile epithelial corneal dystrophy (MECD, sometimes also Stocker-Holt dystrophy) is a...⁴⁴ more...

OMIM: 122100

meesmann corneal dystrophy 7 30 17 33 corneal dystrophy, juvenile epithelial of meesmann 30 17 juvenile hereditary epithelial dystrophy 30 17 corneal dystrophy, meesmann epithelial 17 meesmann corneal epithelial dystrophy 30

meesman dystrophy 30 corneal dystrophy 43 dystrophy 43 mecd 17

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

(show top 50)    (show all 541)

id	Related Disease	Score	Top Affiliating Genes
1	corneal dystrophy	33.2	KRT12, KRT3
2	corneal disease	24.3	KRT12, KRT3
3	keratoconus	24.0	KRT12, KRT3
4	muscular dystrophy	13.2
5	autosomal dominant disease	12.2	KRT12, KRT3
6	amyloid tumor	12.2	KRT3, KRT12
7	astigmatism	12.1	KRT12, KRT3
8	t cell deficiency	11.8	KRT12, KRT3
9	myotonic dystrophy	11.7
10	lattice corneal dystrophy	11.2
11	duchenne muscular dystrophy	11.0
12	congenital muscular dystrophy	11.0
13	limb-girdle muscular dystrophy	10.9
14	macular corneal dystrophy	10.5
15	becker muscular dystrophy	10.3
16	macular dystrophy	10.1
17	corneal dystrophy avellino type	10.0
18	emery-dreifuss muscular dystrophy	10.0
19	retinitis	9.9
20	congenital stromal corneal dystrophy	9.8
21	posterior polymorphous corneal dystrophy	9.8
22	oculopharyngeal muscular dystrophy	9.7
23	lattice corneal dystrophy type ii	9.7
24	cone-rod dystrophy	9.6
25	lattice corneal dystrophy type 1	9.5
26	epithelial basement membrane corneal dystrophy	9.4
27	facioscapulohumeral muscular dystrophy	9.3
28	myotonic dystrophy type 1	9.3
29	vitelliform macular dystrophy	9.3
30	macular dystrophy, corneal type 1	9.2
31	myotonic dystrophy type 2	9.0
32	cone dystrophy	9.0
33	candidiasis	8.8
34	amyloidosis corneal	8.7
35	corneal dystrophy crystalline of schnyder	8.7
36	corneal dystrophy of bowman layer type 1	8.7
37	groenouw type i corneal dystrophy	8.7
38	myopathy	8.6
39	corneal dystrophy and perceptive deafness	8.5
40	corneal dystrophy fuchs endothelial 1	8.5
41	corneal dystrophy thiel behnke type	8.5
42	fundus dystrophy	8.4
43	fuchs' endothelial dystrophy	8.3
44	lattice corneal dystrophy type iiia	8.3
45	sorsby fundus dystrophy	8.2
46	asphyxiating thoracic dystrophy	8.2
47	cardiomyopathy	8.2
48	fukuyama type muscular dystrophy	8.2
49	ullrich congenital muscular dystrophy	8.2
50	neuroaxonal dystrophy	8.1

Clinical features from OMIM: 122100

Approved drugs:

Drug clinical trials:

Articles related to meesmann corneal dystrophy:

(show all 14)

id	Title	Authors	Year	Affiliating Genes
1	Identification of a novel mutation in the cornea spec ific keratin 12 gene causing Meesmann's corneal dystrophy in a German family. (20577595)	Clausen I.... GrA1nauer-Kloevekorn C.	2010	KRT12
2	Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation. (18806880)	Szaflik J.P.... Szaflik J.	2008	KRT3, KRT12
3	A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. (18661274)	Seto T.... Kanai A.	2008	KRT12
4	A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. (17653038)	Sullivan L.S.... Yee R.W.	2007	KRT12
5	Analysis of mutation in KRT12 gene in a Chinese family with Meesmann's corneal dystrophy (18201524)	Wang L.J.... Liu L.	2007	KRT3, KRT12
6	Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. (16227835)	Chen Y.T.... Chao S.C.	2005	KRT3, KRT12
7	Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. (16352477)	Nichini O.... Schorderet D.F.	2005	KRT3, KRT12
8	A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. (15148206)	Yoon M.K.... Margolis T.P.	2004	KRT3, KRT12
9	Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. (12543196)	Takahashi K.... Kanai A.	2002	KRT3, KRT12
10	Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. (10644419)	Corden L.D.... McLean W.H.I.	2000	KRT12
11	Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3. (11024418)	Lisch W.... Grzeschik K.	2000	KRT12
12	A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. (10781519)	Corden L.D.... McLean W.H.I.	2000	KRT12
13	A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. (10612503)	Coleman C.M.... McLean W.H.	1999	KRT3, KRT12
14	Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. (9171831)	Irvine A.D.... McLean W.H.I.	1997	KRT3, KRT12

Genes related to meesmann corneal dystrophy according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	KRT12	keratin 12	11.1	Publications, Summaries
2	KRT3	keratin 3	11.1	Publications, Summaries

Compounds related to meesmann corneal dystrophy according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	arginine32	9.1	KRT12, KRT3
2	proline32	8.8	KRT12, KRT3

Cellular components related to meesmann corneal dystrophy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	intermediate filament	GO:005882	9.1	KRT12, KRT3

Molecular functions related to meesmann corneal dystrophy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	structural molecule activity	GO:005198	9.1	KRT12, KRT3