MCID: PST090
MIFTS: 31

Posterior Amorphous Corneal Dystrophy malady

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Posterior Amorphous Corneal Dystrophy

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Sources:
10Disease Ontology, 12DISEASES, 51Orphanet, 65UMLS, 27ICD10, 36MeSH, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Posterior Amorphous Corneal Dystrophy:

Name: Posterior Amorphous Corneal Dystrophy 10 12 51
Pacd 10 51
 
Corneal Dystrophy, Posterior Amorphous 65
Posterior Amorphous Stromal Dystrophy 51

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

Disease Ontology10 DOID:0060452
ICD1027 H18.5
MeSH36 C567546
Orphanet51 98971
ICD10 via Orphanet28 H18.5
UMLS65 C2748502

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 pacd, is related to endothelial dystrophy and corneal dystrophy. An important gene associated with Posterior Amorphous Corneal Dystrophy is EPYC (Epiphycan), and among its related pathways are Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) and ECM proteoglycans. Affiliated tissues include eye, bone and endothelial.

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
1endothelial dystrophy29.9DCN, EPYC, KERA, LUM
2corneal dystrophy10.6
3scleral disease10.1COG2, KERA
4endotheliitis10.1
5frontonasal dysplasia 310.0DCN, KERA, LUM
6acute hydrops keratoconus10.0IFITM2, KERA
7cirrhosis, north american indian childhood type9.9DCN, LUM
8omodysplasia9.8DCN, EPYC, KERA, LUM
9spinal muscular atrophy with progressive myoclonic epilepsy8.8ACER1, ACER2, ACER3, ASAH2
10subepithelial mucinous corneal dystrophy6.0ACER1, ACER2, ACER3, ASAH2, COG2, COG6

Graphical network of diseases related to Posterior Amorphous Corneal Dystrophy:



Diseases related to posterior amorphous corneal dystrophy

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, Bone, Endothelial, Bone marrow

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

Publications for Posterior Amorphous Corneal Dystrophy

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Articles related to Posterior Amorphous Corneal Dystrophy:

(show all 11)
idTitleAuthorsYear
1
Posterior amorphous corneal dystrophy caused by a de novo deletion. (27096414)
2016
2
Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. (24759697)
2014
3
Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. (20357198)
2010
4
In vivo confocal microscopy findings in a patient with posterior amorphous corneal dystrophy. (17300585)
2007
5
Posterior amorphous corneal dystrophy: ultrasound biomicroscopy findings in two cases. (11862100)
2002
6
Posterior amorphous corneal dystrophy. A new pedigree with phenotypic variation. (8600425)
1996
7
Posterior amorphous corneal dystrophy. An ultrastructural study of a variant with histopathological features of an endothelial dystrophy. (1582220)
1992
8
The pathology of posterior amorphous corneal dystrophy. (2314832)
1990
9
Penetrating keratoplasty in the management of posterior amorphous corneal dystrophy. (2234837)
1990
10
New findings in posterior amorphous corneal dystrophy. (6607727)
1984
11
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:

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9KERA, LUM
29.9DCN, LUM
39.8COG2, COG6
49.8COG2, COG6
5
Show member pathways
9.6DCN, KERA, LUM
6
Show member pathways
9.6DCN, KERA, LUM
7
Show member pathways
9.0DCN, KERA, LUM, MGAM
88.8ACER1, ACER2, ASAH2
98.8ACER1, ACER2, ASAH2
10
Show member pathways
8.3ACER1, ACER2, ACER3, ASAH2
11
Show member pathways
6.8ACER1, ACER2, ACER3, ASAH2, DCN, KERA

GO Terms for genes affiliated with Posterior Amorphous Corneal Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1keratan sulfate catabolic processGO:004234010.4KERA, LUM
2keratan sulfate biosynthetic processGO:001814610.1KERA, LUM
3visual perceptionGO:00076019.9KERA, LUM
4glycosaminoglycan metabolic processGO:00302039.6DCN, KERA
5ceramide metabolic processGO:00066729.4ACER1, ACER2, ACER3
6sphingolipid biosynthetic processGO:00301489.4ACER1, ACER2, ACER3

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