MCID: PST090
MIFTS: 24

Posterior Amorphous Corneal Dystrophy malady

Eye diseases, Rare diseases categories

Aliases & Classifications for Posterior Amorphous Corneal Dystrophy

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Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Posterior Amorphous Corneal Dystrophy:

Name: Posterior Amorphous Corneal Dystrophy 51
Corneal Dystrophy, Posterior Amorphous 65
 
Posterior Amorphous Stromal Dystrophy 51
Pacd 51


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
posterior amorphous corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 98971
ICD10 via Orphanet28 H18.5

Summaries for Posterior Amorphous Corneal Dystrophy

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Wikipedia:68 Posterior amorphous corneal dystrophy (PACD) is a rare form of corneal dystrophy. It is not yet linked... more...

MalaCards based summary: Posterior Amorphous Corneal Dystrophy, also known as corneal dystrophy, posterior amorphous, is related to corneal dystrophy and endotheliitis. An important gene associated with Posterior Amorphous Corneal Dystrophy is DCN (Decorin), and among its related pathways are Proteoglycans in cancer and ECM proteoglycans. Affiliated tissues include eye and endothelial, and related mouse phenotype vision/eye.

Related Diseases for Posterior Amorphous Corneal Dystrophy

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Diseases related to Posterior Amorphous Corneal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy10.9
2endotheliitis10.4
3peeling skin syndrome9.3DCN, EPYC, KERA, LUM
4essential iris atrophy9.2DCN, EPYC, KERA, LUM

Symptoms for Posterior Amorphous Corneal Dystrophy

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Drugs & Therapeutics for Posterior Amorphous Corneal Dystrophy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Posterior Amorphous Corneal Dystrophy

Genetic Tests for Posterior Amorphous Corneal Dystrophy

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Anatomical Context for Posterior Amorphous Corneal Dystrophy

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MalaCards organs/tissues related to Posterior Amorphous Corneal Dystrophy:

33
Eye, Endothelial

Animal Models for Posterior Amorphous Corneal Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Posterior Amorphous Corneal Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.6DCN, KERA, LUM

Publications for Posterior Amorphous Corneal Dystrophy

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Articles related to Posterior Amorphous Corneal Dystrophy:

idTitleAuthorsYear
1
Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. (24759697)
2014
2
Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. (20357198)
2010
3
In vivo confocal microscopy findings in a patient with posterior amorphous corneal dystrophy. (17300585)
2007
4
Posterior amorphous corneal dystrophy: ultrasound biomicroscopy findings in two cases. (11862100)
2002
5
Posterior amorphous corneal dystrophy. A new pedigree with phenotypic variation. (8600425)
1996
6
Posterior amorphous corneal dystrophy. An ultrastructural study of a variant with histopathological features of an endothelial dystrophy. (1582220)
1992
7
The pathology of posterior amorphous corneal dystrophy. (2314832)
1990
8
Penetrating keratoplasty in the management of posterior amorphous corneal dystrophy. (2234837)
1990
9
New findings in posterior amorphous corneal dystrophy. (6607727)
1984
10
Posterior amorphous corneal dystrophy. (301356)
1977

Variations for Posterior Amorphous Corneal Dystrophy

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Expression for genes affiliated with Posterior Amorphous Corneal Dystrophy

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Search GEO for disease gene expression data for Posterior Amorphous Corneal Dystrophy.

Pathways for genes affiliated with Posterior Amorphous Corneal Dystrophy

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Pathways related to Posterior Amorphous Corneal Dystrophy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4DCN, LUM
29.4DCN, LUM
3
Show member pathways
9.1KERA, LUM
4
Show member pathways
9.1KERA, LUM
5
Show member pathways
8.6DCN, KERA, LUM
6
Show member pathways
8.6DCN, KERA, LUM
7
Show member pathways
8.6DCN, KERA, LUM

GO Terms for genes affiliated with Posterior Amorphous Corneal Dystrophy

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Cellular components related to Posterior Amorphous Corneal Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310129.1DCN, LUM
2lysosomal lumenGO:00432029.0DCN, KERA, LUM
3Golgi lumenGO:00057968.9DCN, KERA, LUM
4proteinaceous extracellular matrixGO:00055788.1DCN, EPYC, KERA, LUM
5extracellular spaceGO:00056158.0DCN, EPYC, KERA, LUM

Biological processes related to Posterior Amorphous Corneal Dystrophy according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1keratan sulfate catabolic processGO:00423409.8KERA, LUM
2keratan sulfate biosynthetic processGO:00181469.7KERA, LUM
3keratan sulfate metabolic processGO:00423399.7KERA, LUM
4axonogenesisGO:00074099.7KERA, LUM
5extracellular matrix organizationGO:00301989.4DCN, LUM
6visual perceptionGO:00076019.2KERA, LUM
7carbohydrate metabolic processGO:00059758.9DCN, KERA, LUM
8glycosaminoglycan metabolic processGO:00302038.9DCN, KERA, LUM
9small molecule metabolic processGO:00442818.8DCN, KERA, LUM

Molecular functions related to Posterior Amorphous Corneal Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055189.4DCN, LUM
2glycosaminoglycan bindingGO:00055399.2DCN, EPYC

Sources for Posterior Amorphous Corneal Dystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet