PACD
MCID: PST090
MIFTS: 30

Posterior Amorphous Corneal Dystrophy (PACD) malady

Eye diseases, Rare diseases categories

Summaries for Posterior Amorphous Corneal Dystrophy

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Sources:
66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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 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.

Description from OMIM:48 612868

Aliases & Classifications for Posterior Amorphous Corneal Dystrophy

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Sources:
50Orphanet, 48OMIM, 63UMLS, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
posterior amorphous corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

posterior amorphous corneal dystrophy 50 48
corneal dystrophy, posterior amorphous 63
posterior amorphous stromal dystrophy 50
pacd 50


External Ids:

OMIM48 612868
ICD10 via Orphanet27 H18.5

Related Diseases for Posterior Amorphous Corneal Dystrophy

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Sources:
18GeneCards, 19GeneDecks
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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
1corneal dystrophy10.9
2endotheliitis10.4
3keratoconus10.0KERA, DCN
4myopia 69.9EPYC, DCN, LUM

Symptoms for Posterior Amorphous Corneal Dystrophy

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48OMIM
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Symptoms by clinical synopsis from OMIM:

612868

Clinical features from OMIM:

612868

Drugs & Therapeutics for Posterior Amorphous Corneal Dystrophy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch 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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34MalaCards
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MalaCards organs/tissues related to Posterior Amorphous Corneal Dystrophy:

34
Eye, Endothelial

Animal Models for Posterior Amorphous Corneal Dystrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Posterior Amorphous Corneal Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5KERA, DCN, LUM

Publications for Posterior Amorphous Corneal Dystrophy

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53PubMed
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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

Variations for Posterior Amorphous Corneal Dystrophy

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Expression for genes affiliated with Posterior Amorphous Corneal Dystrophy

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Sources:
2BioGPS, 16Gene 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

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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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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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Sources:
17Gene 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, EPYC, KERA
3lysosomal lumenGO:0432028.6LUM, DCN, KERA
4Golgi lumenGO:0057968.5LUM, DCN, KERA
5extracellular regionGO:0055768.5LUM, DCN, KERA

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1keratan sulfate catabolic processGO:0423409.5LUM, KERA
2keratan sulfate biosynthetic processGO:0181469.4LUM, KERA
3keratan sulfate metabolic processGO:0423399.3LUM, KERA
4visual perceptionGO:0076019.2KERA, LUM
5extracellular matrix organizationGO:0301989.0LUM, DCN
6glycosaminoglycan metabolic processGO:0302038.7KERA, LUM, DCN
7carbohydrate metabolic processGO:0059758.6KERA, DCN, LUM
8small molecule metabolic processGO:0442818.2KERA, DCN, 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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Posterior Amorphous Corneal Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet