MCID: PST090
MIFTS: 23

Posterior Amorphous Corneal Dystrophy malady

Eye diseases, Rare diseases categories

Aliases & Classifications for Posterior Amorphous Corneal Dystrophy

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Sources:
47Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

Posterior Amorphous Corneal Dystrophy, Aliases & Descriptions:

Name: Posterior Amorphous Corneal Dystrophy 47
Corneal Dystrophy, Posterior Amorphous 60
 
Posterior Amorphous Stromal Dystrophy 47
Pacd 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
posterior amorphous corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 98971
ICD10 via Orphanet26 H18.5

Summaries for Posterior Amorphous Corneal Dystrophy

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Wikipedia:63 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 KERA (keratocan), and among its related pathways are Keratan sulfate/keratin metabolism and Proteoglycans in cancer. 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
3keratoconus10.0KERA, DCN
4myopia9.5EPYC, DCN, LUM

Symptoms for Posterior Amorphous Corneal Dystrophy

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Drugs & Therapeutics for Posterior Amorphous Corneal Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Posterior Amorphous Corneal Dystrophy

Search 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:

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5KERA, DCN, 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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Compounds for genes affiliated with Posterior Amorphous Corneal Dystrophy

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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:00310128.7DCN, LUM
2proteinaceous extracellular matrixGO:00055788.7LUM, EPYC, KERA
3lysosomal lumenGO:00432028.6KERA, DCN, LUM
4Golgi lumenGO:00057968.5KERA, DCN, LUM
5extracellular regionGO:00055768.5KERA, DCN, LUM

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1keratan sulfate catabolic processGO:00423409.5KERA, LUM
2keratan sulfate biosynthetic processGO:00181469.4LUM, KERA
3keratan sulfate metabolic processGO:00423399.3KERA, LUM
4visual perceptionGO:00076019.2KERA, LUM
5extracellular matrix organizationGO:00301989.0DCN, LUM
6glycosaminoglycan metabolic processGO:00302038.7KERA, DCN, LUM
7carbohydrate metabolic processGO:00059758.6KERA, DCN, LUM
8small molecule metabolic processGO:00442818.2LUM, DCN, KERA

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

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055189.0DCN, LUM
2glycosaminoglycan bindingGO:00055398.8EPYC, DCN

Products for genes affiliated with Posterior Amorphous Corneal Dystrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Posterior Amorphous Corneal Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet