PACD
MCID: PST090
MIFTS: 24

Posterior Amorphous Corneal Dystrophy (PACD) malady

Eye diseases category

Summaries for Posterior Amorphous Corneal Dystrophy

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63Wikipedia, 46OMIM, 32MalaCards
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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: Posterior Amorphous Corneal Dystrophy, also known as corneal dystrophy, posterior amorphous, is related to corneal dystrophy and bullous keratopathy. 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 eye, and related mouse phenotype vision/eye.

Description from OMIM:46 612868

Aliases & Classifications for Posterior Amorphous Corneal Dystrophy

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Sources:
48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
posterior amorphous corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

posterior amorphous corneal dystrophy 48 46
corneal dystrophy, posterior amorphous 60
posterior amorphous stromal dystrophy 48
pacd 48


External Ids:

OMIM46 612868
ICD10 via Orphanet26 H18.5

Related Diseases for Posterior Amorphous Corneal Dystrophy

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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
1corneal dystrophy10.8
2bullous keratopathy10.0DCN
3keratoconus10.0DCN, KERA
4myopia 610.0EPYC, DCN, LUM

Clinical Features for Posterior Amorphous Corneal Dystrophy

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46OMIM
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Clinical features from OMIM:

612868

Clinical synopsis from OMIM:

612868

Drugs & Therapeutics for Posterior Amorphous Corneal Dystrophy

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Posterior Amorphous Corneal Dystrophy

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Sources:
32MalaCards
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MalaCards organs/tissues related to Posterior Amorphous Corneal Dystrophy:

32
Eye

Animal Models for Posterior Amorphous Corneal Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Posterior Amorphous Corneal Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5DCN, KERA, LUM

Publications for Posterior Amorphous Corneal Dystrophy

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Genetic Variations for Posterior Amorphous Corneal Dystrophy

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Expression for genes affiliated with Posterior Amorphous Corneal Dystrophy

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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

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53Reactome, 29KEGG
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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:
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:0432028.6LUM, KERA, DCN
4Golgi lumenGO:0057968.5LUM, KERA, DCN
5extracellular regionGO:0055768.5LUM, KERA, DCN

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1keratan sulfate catabolic processGO:0423409.4LUM, KERA
2keratan sulfate biosynthetic processGO:0181469.3LUM, KERA
3keratan sulfate metabolic processGO:0423399.2LUM, KERA
4visual perceptionGO:0076019.0KERA, LUM
5glycosaminoglycan metabolic processGO:0302038.7KERA, LUM, DCN
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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Posterior Amorphous Corneal Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet