MCID: CRN274
MIFTS: 26

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 50 37 66
Posterior Amorphous Corneal Dystrophy 11 13 52
 
Pacd 11 52
Posterior Amorphous Stromal Dystrophy 52

Characteristics:

Orphanet epidemiological data:

52
posterior amorphous corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
corneal dystrophy, posterior amorphous:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 612868
Disease Ontology11 DOID:0060452
ICD1028 H18.5
MeSH37 C567546
Orphanet52 ORPHA98971
ICD10 via Orphanet29 H18.5

Summaries for Corneal Dystrophy, Posterior Amorphous

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MalaCards based summary: Corneal Dystrophy, Posterior Amorphous, also known as posterior amorphous corneal dystrophy, is related to corneal dystrophy and frontonasal dysplasia 3, 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:50 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
1corneal dystrophy10.3
2frontonasal dysplasia 310.2KERA, LUM
3blepharophimosis-intellectual disability syndrome, sbbys type10.1EPYC, KERA, LUM
4epithelial basement membrane dystrophy10.1EPYC, KERA, LUM
5cerebral artery occlusion10.0IFITM2, KERA
6bladder diverticulum10.0COG2, KERA
7orbital margin, hypoplasia of5.4ACER1, 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

HPO human phenotypes related to Corneal Dystrophy, Posterior Amorphous:

id Description Frequency HPO Source Accession
1 hypermetropia HP:0000540
2 corneal dystrophy 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:

34
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:00171199.9COG2, COG6
2integral component of Golgi membraneGO:00301739.2ACER2, 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:000689110.1COG2, COG6
4sphingosine biosynthetic processGO:00465129.7ACER1, ACER2, ACER3
5axonogenesisGO:00074099.7EPYC, KERA, LUM
6sphingolipid biosynthetic processGO:00301489.3ACER1, ACER2, ACER3
7ceramide metabolic processGO:00066729.0ACER2, ACER3, ASAH2

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

idNameGO IDScoreTop Affiliating Genes
1dihydroceramidase activityGO:00716339.7ACER1, ACER2
2ceramidase activityGO:00170408.9ACER1, ACER2, ASAH2

Sources for Corneal Dystrophy, Posterior Amorphous

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet