PACD
MCID: PST090
MIFTS: 31

Posterior Amorphous Corneal Dystrophy (PACD) malady

Eye diseases, Rare diseases categories
Download this MalaCard

Summaries for Posterior Amorphous Corneal Dystrophy

About this section


Fully expand this MalaCard
Wikipedia:65 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 corneal dystrophy and endotheliitis, and has symptoms including 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:46 612868

Aliases & Classifications for Posterior Amorphous Corneal Dystrophy

About this section
Sources:
48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet
See all sources

Posterior Amorphous Corneal Dystrophy, Aliases & Descriptions:

Name: Posterior Amorphous Corneal Dystrophy 48 46
Pacd 48 62
 
Corneal Dystrophy, Posterior Amorphous 62
Posterior Amorphous Stromal Dystrophy 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 612868
ICD10 via Orphanet26 H18.5

Related Diseases for Posterior Amorphous Corneal Dystrophy

About this section

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 69.5EPYC, DCN, LUM

Symptoms for Posterior Amorphous Corneal Dystrophy

About this section

Symptoms by clinical synopsis from OMIM:

612868

Clinical features from OMIM:

612868

HPO human phenotypes related to Posterior Amorphous Corneal Dystrophy:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypermetropia HP:0000540
3 infantile onset HP:0003593

Drugs & Therapeutics for Posterior Amorphous Corneal Dystrophy

About this section

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

About this section

Anatomical Context for Posterior Amorphous Corneal Dystrophy

About this section

MalaCards organs/tissues related to Posterior Amorphous Corneal Dystrophy:

32
Eye, Endothelial

Animal Models for Posterior Amorphous Corneal Dystrophy or affiliated genes

About this section

MGI Mouse Phenotypes related to Posterior Amorphous Corneal Dystrophy:

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

Publications for Posterior Amorphous Corneal Dystrophy

About this section

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

About this section

Expression for genes affiliated with Posterior Amorphous Corneal Dystrophy

About this section
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

About this section

Compounds for genes affiliated with Posterior Amorphous Corneal Dystrophy

About this section

GO Terms for genes affiliated with Posterior Amorphous Corneal Dystrophy

About this section

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:0432028.6KERA, DCN, LUM
4Golgi lumenGO:0057968.5KERA, DCN, LUM
5extracellular regionGO:0055768.5KERA, DCN, LUM

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

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

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Posterior Amorphous Corneal Dystrophy

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet