PACD
MCID: CRN274
MIFTS: 26

Corneal Dystrophy, Posterior Amorphous (PACD) malady

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Posterior Amorphous

Aliases & Descriptions for Corneal Dystrophy, Posterior Amorphous:

Name: Corneal Dystrophy, Posterior Amorphous 54 42 69
Posterior Amorphous Corneal Dystrophy 12 56 14
Pacd 12 56
Posterior Amorphous Stromal Dystrophy 56

Characteristics:

Orphanet epidemiological data:

56
posterior amorphous corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
corneal dystrophy, posterior amorphous:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 612868
Disease Ontology 12 DOID:0060452
ICD10 33 H18.5
MeSH 42 C567546
Orphanet 56 ORPHA98971
ICD10 via Orphanet 34 H18.5

Summaries for Corneal Dystrophy, Posterior Amorphous

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/superpathways are Sphingolipid metabolism and Sphingolipid signaling pathway. Affiliated tissues include eye.

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

Description from OMIM: 612868

Related Diseases for Corneal Dystrophy, Posterior Amorphous

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

id Related Disease Score Top Affiliating Genes
1 corneal dystrophy 10.1
2 stone in bladder diverticulum 10.1 COG2 KERA
3 deafness, autosomal recessive 84b 10.1 KERA LUM
4 autosomal dominant chondrodysplasia punctata 10.1 EPYC KERA LUM
5 chromosome 3q29 microduplication syndrome 10.1 EPYC KERA LUM
6 lockwood feingold syndrome 10.0 ACER3 ASAH2
7 skin squamous cell carcinoma 9.8 COG2 MGAM
8 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 8.1 ACER1 ACER2 ACER3 ASAH2 ASAH2B COG2

Graphical network of the top 20 diseases related to Corneal Dystrophy, Posterior Amorphous:



Diseases related to Corneal Dystrophy, Posterior Amorphous

Symptoms & Phenotypes for Corneal Dystrophy, Posterior Amorphous

Symptoms by clinical synopsis from OMIM:

612868

Clinical features from OMIM:

612868

Human phenotypes related to Corneal Dystrophy, Posterior Amorphous:

32
id Description HPO Frequency HPO Source Accession
1 hypermetropia 32 HP:0000540
2 corneal dystrophy 32 HP:0001131

Drugs & Therapeutics for Corneal Dystrophy, Posterior Amorphous

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

Cochrane evidence based reviews: corneal dystrophy, posterior amorphous

Genetic Tests for Corneal Dystrophy, Posterior Amorphous

Anatomical Context for Corneal Dystrophy, Posterior Amorphous

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

39
Eye

Publications for Corneal Dystrophy, Posterior Amorphous

Variations for Corneal Dystrophy, Posterior Amorphous

Expression for Corneal Dystrophy, Posterior Amorphous

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

Pathways for Corneal Dystrophy, Posterior Amorphous

GO Terms for Corneal Dystrophy, Posterior Amorphous

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

id Name GO ID Score Top Affiliating Genes
1 Golgi transport complex GO:0017119 8.62 COG2 COG6

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

id Name GO ID Score Top Affiliating Genes
1 axonogenesis GO:0007409 9.5 EPYC KERA LUM
2 sphingolipid metabolic process GO:0006665 9.43 ACER1 ASAH2
3 keratan sulfate biosynthetic process GO:0018146 9.4 KERA LUM
4 intra-Golgi vesicle-mediated transport GO:0006891 9.37 COG2 COG6
5 sphingolipid biosynthetic process GO:0030148 9.33 ACER1 ACER2 ACER3
6 keratan sulfate catabolic process GO:0042340 9.26 KERA LUM
7 sphingosine biosynthetic process GO:0046512 9.13 ACER1 ACER2 ACER3
8 ceramide metabolic process GO:0006672 8.92 ACER1 ACER2 ACER3 ASAH2

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.73 ACER1 ACER2 ACER3 ASAH2 MGAM RNASE3
2 dihydroceramidase activity GO:0071633 9.16 ACER1 ACER2
3 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides GO:0016811 9.13 ACER1 ACER2 ACER3
4 ceramidase activity GO:0017040 8.8 ACER1 ACER2 ASAH2

Sources for Corneal Dystrophy, Posterior Amorphous

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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