MCID: CRN274
MIFTS: 33

Corneal Dystrophy, Posterior Amorphous

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Posterior Amorphous

MalaCards integrated aliases for Corneal Dystrophy, Posterior Amorphous:

Name: Corneal Dystrophy, Posterior Amorphous 53 41 69
Posterior Amorphous Corneal Dystrophy 53 12 55 14
Pacd 53 12 55
Chromosome 12q21.33 Deletion Syndrome 53
Posterior Amorphous Stromal Dystrophy 55

Characteristics:

Orphanet epidemiological data:

55
posterior amorphous corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
nonprogressive
variable clinical presentation of corneal findings
association with other ocular anomalies
contiguous gene deletion syndrome


HPO:

31
corneal dystrophy, posterior amorphous:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset nonprogressive


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 612868
Disease Ontology 12 DOID:0060452
ICD10 32 H18.5
MeSH 41 C567546
Orphanet 55 ORPHA98971
UMLS via Orphanet 70 C2748502
ICD10 via Orphanet 33 H18.5
MedGen 39 C2748502
UMLS 69 C2748502

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 corneal dystrophy, congenital stromal, and has symptoms including corneal dystrophy, iris coloboma and ectopia pupillae. An important gene associated with Corneal Dystrophy, Posterior Amorphous is PACD (Corneal Dystrophy, Posterior Amorphous), and among its related pathways/superpathways are Sphingolipid metabolism and Sphingolipid signaling pathway. Affiliated tissues include eye.

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:

# Related Disease Score Top Affiliating Genes
1 corneal dystrophy 10.2
2 corneal dystrophy, congenital stromal 10.1 KERA LUM
3 cornea plana 10.1 EPYC KERA LUM
4 stromal dystrophy 10.0 EPYC KERA LUM
5 hyperlipoproteinemia, type iii 9.9 COG2 MGAM

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 via clinical synopsis from OMIM:

53
Head And Neck Eyes:
posterior amorphous corneal dystrophy extending to the corneal limbus
disorganization of posterior stromal lamellae by electron microscopy
hyperopia
corneal thinning
flattened corneal topography
more

Clinical features from OMIM:

612868

Human phenotypes related to Corneal Dystrophy, Posterior Amorphous:

31
# Description HPO Frequency HPO Source Accession
1 corneal dystrophy 31 HP:0001131
2 iris coloboma 31 occasional (7.5%) HP:0000612
3 ectopia pupillae 31 occasional (7.5%) HP:0009918
4 hypermetropia 31 HP:0000540

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:

38
Eye

Publications for Corneal Dystrophy, Posterior Amorphous

Articles related to Corneal Dystrophy, Posterior Amorphous:

(show all 12)
# Title Authors Year
1
Posterior Amorphous Corneal Dystrophy Associated With Keratoglobus: A Case Report. ( 28902010 )
2017
2
Posterior amorphous corneal dystrophy caused by a de novo deletion. ( 27096414 )
2016
3
Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. ( 24759697 )
2014
4
Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. ( 20357198 )
2010
5
In vivo confocal microscopy findings in a patient with posterior amorphous corneal dystrophy. ( 17300585 )
2007
6
Posterior amorphous corneal dystrophy: ultrasound biomicroscopy findings in two cases. ( 11862100 )
2002
7
Posterior amorphous corneal dystrophy. A new pedigree with phenotypic variation. ( 8600425 )
1996
8
Posterior amorphous corneal dystrophy. An ultrastructural study of a variant with histopathological features of an endothelial dystrophy. ( 1582220 )
1992
9
The pathology of posterior amorphous corneal dystrophy. ( 2314832 )
1990
10
Penetrating keratoplasty in the management of posterior amorphous corneal dystrophy. ( 2234837 )
1990
11
New findings in posterior amorphous corneal dystrophy. ( 6607727 )
1984
12
Posterior amorphous corneal dystrophy. ( 301356 )
1977

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.66 ACER1 ACER2 ACER3 ASAH2
2 11.4 ACER1 ACER2 ASAH2
3 10.97 COG2 COG6
4
Show member pathways
10.58 KERA LUM
5 9.75 ACER1 ACER2 ASAH2

GO Terms for Corneal Dystrophy, Posterior Amorphous

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

# Name GO ID Score Top Affiliating Genes
1 integral component of Golgi membrane GO:0030173 8.96 ACER2 ACER3
2 Golgi transport complex GO:0017119 8.62 COG2 COG6

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 glycosaminoglycan binding GO:0005539 9.26 EPYC PRNP
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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