MCID: CRN274
MIFTS: 25

Corneal Dystrophy, Posterior Amorphous 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 51 38 67
Posterior Amorphous Corneal Dystrophy 11 53 13
 
Pacd 11 53
Posterior Amorphous Stromal Dystrophy 53

Characteristics:

Orphanet epidemiological data:

53
posterior amorphous corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
corneal dystrophy, posterior amorphous:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

OMIM51 612868
Disease Ontology11 DOID:0060452
ICD1029 H18.5
MeSH38 C567546
Orphanet53 ORPHA98971
ICD10 via Orphanet30 H18.5

Summaries for Corneal Dystrophy, Posterior Amorphous

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Wikipedia:70 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 frontonasal dysplasia 3 and corneal dystrophy, 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 CHST6 causes MCDC1 and Intra-Golgi traffic. Affiliated tissues include eye.

Description from OMIM:51 612868

Related Diseases for Corneal Dystrophy, Posterior Amorphous

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Diseases related to Corneal Dystrophy, Posterior Amorphous via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1frontonasal dysplasia 310.1KERA, LUM
2corneal dystrophy10.1
3cerebral artery occlusion10.0IFITM2, KERA
4bladder diverticulum9.9COG2, KERA
5orbital margin, hypoplasia of5.7ACER1, ACER2, ACER3, ASAH2, COG2, COG6

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



Diseases related to corneal dystrophy, posterior amorphous

Symptoms 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:

 63
id Description HPO Frequency HPO Source Accession
1 hypermetropia63 HP:0000540
2 corneal dystrophy63 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:

35
Eye

Animal Models for Corneal Dystrophy, Posterior Amorphous or affiliated genes

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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:00171199.8COG2, COG6
2integral component of Golgi membraneGO:00301739.5ACER2, ACER3

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1keratan sulfate catabolic processGO:004234010.5KERA, LUM
2keratan sulfate biosynthetic processGO:001814610.3KERA, LUM
3intra-Golgi vesicle-mediated transportGO:000689110.0COG2, COG6
4sphingosine biosynthetic processGO:00465129.9ACER1, ACER2, ACER3
5axonogenesisGO:00074099.7EPYC, KERA, LUM
6sphingolipid biosynthetic processGO:00301489.5ACER1, ACER2, ACER3
7ceramide metabolic processGO:00066729.3ACER2, ACER3, ASAH2

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

idNameGO IDScoreTop Affiliating Genes
1dihydroceramidase activityGO:00716339.6ACER1, ACER2
2ceramidase activityGO:00170408.8ACER1, ACER2, ASAH2

Sources for Corneal Dystrophy, Posterior Amorphous

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet