PACD
MCID: CRN274
MIFTS: 26

Corneal Dystrophy, Posterior Amorphous (PACD) malady

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Posterior Amorphous

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Aliases & Descriptions for Corneal Dystrophy, Posterior Amorphous:

Name: Corneal Dystrophy, Posterior Amorphous 52 39 68
Posterior Amorphous Corneal Dystrophy 11 54 13
 
Pacd 11 54
Posterior Amorphous Stromal Dystrophy 54

Characteristics:

Orphanet epidemiological data:

54
posterior amorphous corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
corneal dystrophy, posterior amorphous:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 612868
Disease Ontology11 DOID:0060452
ICD1030 H18.5
MeSH39 C567546
Orphanet54 ORPHA98971
ICD10 via Orphanet31 H18.5

Summaries for Corneal Dystrophy, Posterior Amorphous

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Wikipedia:71 Posterior amorphous corneal dystrophy (PACD) is a rare form of corneal dystrophy. It is not yet linked... more...

MalaCards based summary: Corneal Dystrophy, Posterior Amorphous, also known as posterior amorphous corneal dystrophy, is related to corneal dystrophy and stone in bladder diverticulum, and has symptoms including hypermetropia and corneal dystrophy. An important gene associated with Corneal Dystrophy, Posterior Amorphous is EPYC (Epiphycan), and among its related pathways are Defective ST3GAL3 causes MCT12 and EIEE15 and Intra-Golgi traffic. Affiliated tissues include eye.

Description from OMIM:52 612868

Related Diseases for Corneal Dystrophy, Posterior Amorphous

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Graphical network of diseases related to Corneal Dystrophy, Posterior Amorphous:



Diseases related to corneal dystrophy, posterior amorphous

Symptoms & Phenotypes for Corneal Dystrophy, Posterior Amorphous

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Symptoms by clinical synopsis from OMIM:

612868

Clinical features from OMIM:

612868

Human phenotypes related to Corneal Dystrophy, Posterior Amorphous:

 64
id Description HPO Frequency HPO Source Accession
1 hypermetropia64 HP:0000540
2 corneal dystrophy64 HP:0001131

Drugs & Therapeutics for Corneal Dystrophy, Posterior Amorphous

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Corneal Dystrophy, Posterior Amorphous


Cochrane evidence based reviews: corneal dystrophy, posterior amorphous

Genetic Tests for Corneal Dystrophy, Posterior Amorphous

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Anatomical Context for Corneal Dystrophy, Posterior Amorphous

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MalaCards organs/tissues related to Corneal Dystrophy, Posterior Amorphous:

36
Eye

Publications for Corneal Dystrophy, Posterior Amorphous

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Variations for Corneal Dystrophy, Posterior Amorphous

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Expression for genes affiliated with Corneal Dystrophy, Posterior Amorphous

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

Pathways for genes affiliated with Corneal Dystrophy, Posterior Amorphous

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GO Terms for genes affiliated with Corneal Dystrophy, Posterior Amorphous

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Cellular components related to Corneal Dystrophy, Posterior Amorphous according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Golgi transport complexGO:00171199.9COG2, COG6

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1keratan sulfate biosynthetic processGO:001814610.5KERA, LUM
2keratan sulfate catabolic processGO:004234010.5KERA, LUM
3intra-Golgi vesicle-mediated transportGO:000689110.4COG2, COG6
4axonogenesisGO:000740910.3EPYC, KERA, LUM
5sphingolipid biosynthetic processGO:00301489.9ACER1, ACER2, ACER3
6sphingolipid metabolic processGO:00066659.7ACER1, ASAH2
7sphingosine biosynthetic processGO:00465129.4ACER1, ACER2, ACER3
8ceramide metabolic processGO:00066729.4ACER1, ACER2, ACER3, ASAH2

Molecular functions related to Corneal Dystrophy, Posterior Amorphous according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dihydroceramidase activityGO:007163310.4ACER1, ACER2
2ceramidase activityGO:00170409.8ACER1, ACER2, ASAH2
3hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidesGO:00168119.4ACER1, ACER2, ACER3
4hydrolase activityGO:00167878.0ACER1, ACER2, ACER3, ASAH2, MGAM, RNASE3

Sources for Corneal Dystrophy, Posterior Amorphous

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet