PACD
MCID: PST090
MIFTS: 24

Posterior Amorphous Corneal Dystrophy (PACD) malady

Eye category

Summaries for Posterior Amorphous Corneal Dystrophy

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Posterior amorphous corneal dystrophy (PACD) is a rare form of corneal dystrophy. It is not yet linked... more...

MalaCards: Posterior Amorphous Corneal Dystrophy, also known as corneal dystrophy, posterior amorphous, is related to bullous keratopathy and keratoconus. An important gene associated with Posterior Amorphous Corneal Dystrophy is KERA (keratocan), and among its related pathways are Keratan sulfate biosynthesis and Collagen biosynthesis and modifying enzymes. Affiliated tissues include endothelial, and related mouse phenotype vision/eye.

Description from OMIM:47 612868

Aliases & Classifications for Posterior Amorphous Corneal Dystrophy

Sources:
49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye


Characteristics (Orphanet epidemiological data):

49
posterior amorphous corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

posterior amorphous corneal dystrophy 49 47
corneal dystrophy, posterior amorphous 61
posterior amorphous stromal dystrophy 49
pacd 49


External Ids:

OMIM47 612868
ICD10 via Orphanet26 H18.5

Related Diseases for Posterior Amorphous Corneal Dystrophy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Posterior Amorphous Corneal Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1bullous keratopathy10.0DCN
2keratoconus10.0DCN, KERA
3myopia 610.0EPYC, DCN, LUM

Clinical Features for Posterior Amorphous Corneal Dystrophy

Sources:
47OMIM
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Clinical features from OMIM:

612868

Drugs & Therapeutics for Posterior Amorphous Corneal Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Posterior Amorphous Corneal Dystrophy

Search CenterWatch for Posterior Amorphous Corneal Dystrophy

Genetic Tests for Posterior Amorphous Corneal Dystrophy

Anatomical Context for Posterior Amorphous Corneal Dystrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Posterior Amorphous Corneal Dystrophy:

33
Endothelial

Animal Models for Posterior Amorphous Corneal Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Posterior Amorphous Corneal Dystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5DCN, KERA, LUM

Publications for Posterior Amorphous Corneal Dystrophy

Sources:
51PubMed
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Articles related to Posterior Amorphous Corneal Dystrophy:

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

Genetic Variations for Posterior Amorphous Corneal Dystrophy

Expression for genes affiliated with Posterior Amorphous Corneal Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Posterior Amorphous Corneal Dystrophy

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

Pathways for genes affiliated with Posterior Amorphous Corneal Dystrophy

Sources:
54Reactome, 30KEGG
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Compounds for genes affiliated with Posterior Amorphous Corneal Dystrophy

GO Terms for genes affiliated with Posterior Amorphous Corneal Dystrophy

Sources:
16Gene Ontology
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Cellular components related to Posterior Amorphous Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310128.7DCN, LUM
2proteinaceous extracellular matrixGO:0055788.7LUM, KERA, EPYC
3lysosomal lumenGO:0432028.6DCN, KERA, LUM
4Golgi lumenGO:0057968.5DCN, KERA, LUM
5extracellular regionGO:0055768.5DCN, KERA, LUM

Biological processes related to Posterior Amorphous Corneal Dystrophy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1keratan sulfate catabolic processGO:0423409.4KERA, LUM
2keratan sulfate biosynthetic processGO:0181469.3LUM, KERA
3keratan sulfate metabolic processGO:0423399.2KERA, LUM
4visual perceptionGO:0076019.0KERA, LUM
5glycosaminoglycan metabolic processGO:0302038.7DCN, KERA, LUM
6carbohydrate metabolic processGO:0059758.6DCN, KERA, LUM
7small molecule metabolic processGO:0442818.5DCN, KERA, LUM

Molecular functions related to Posterior Amorphous Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:0055189.0DCN, LUM
2glycosaminoglycan bindingGO:0055398.8EPYC, DCN

Products for genes affiliated with Posterior Amorphous Corneal Dystrophy

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  • Proteins
  • Lysates
  • Antibodies

Sources for Posterior Amorphous Corneal Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet