PACD
MCID: CRN274
MIFTS: 36

Corneal Dystrophy, Posterior Amorphous (PACD)

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 57 44 73
Posterior Amorphous Corneal Dystrophy 57 12 59 15
Pacd 57 12 59
Chromosome 12q21.33 Deletion Syndrome 57
Posterior Amorphous Stromal Dystrophy 59

Characteristics:

Orphanet epidemiological data:

59
posterior amorphous corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 612868
Disease Ontology 12 DOID:0060452
ICD10 33 H18.5
MeSH 44 C567546
Orphanet 59 ORPHA98971
ICD10 via Orphanet 34 H18.5
UMLS via Orphanet 74 C2748502
MedGen 42 C2748502
UMLS 73 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. 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 and endothelial, and related phenotypes are corneal dystrophy and iris coloboma

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 10.5
2 corneal dystrophy, congenital stromal 10.1 KERA LUM
3 cornea plana 10.1 EPYC KERA LUM
4 stromal dystrophy 10.1 EPYC KERA LUM
5 cloacogenic carcinoma 10.0 KERA PTPRC
6 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:

57
Head And Neck Eyes:
hyperopia
corectopia (in some patients)
iris coloboma (in some patients)
posterior amorphous corneal dystrophy extending to the corneal limbus
disorganization of posterior stromal lamellae by electron microscopy
more

Clinical features from OMIM:

612868

Human phenotypes related to Corneal Dystrophy, Posterior Amorphous:

32
# Description HPO Frequency HPO Source Accession
1 corneal dystrophy 32 HP:0001131
2 iris coloboma 32 occasional (7.5%) HP:0000612
3 ectopia pupillae 32 occasional (7.5%) HP:0009918
4 hypermetropia 32 HP:0000540

MGI Mouse Phenotypes related to Corneal Dystrophy, Posterior Amorphous:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.61 ACER1 ACER2 COG2 COG6 KERA LUM
2 homeostasis/metabolism MP:0005376 9.32 ACER1 ACER2 ACER3 ASAH2 COG2 EPYC

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:

41
Eye, Endothelial

Publications for Corneal Dystrophy, Posterior Amorphous

Articles related to Corneal Dystrophy, Posterior Amorphous:

(show all 14)
# Title Authors Year
1
Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy. ( 29671669 )
2018
2
Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion. ( 30058938 )
2018
3
Posterior Amorphous Corneal Dystrophy Associated With Keratoglobus: A Case Report. ( 28902010 )
2017
4
Posterior amorphous corneal dystrophy caused by a de novo deletion. ( 27096414 )
2016
5
Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. ( 24759697 )
2014
6
Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. ( 20357198 )
2010
7
In vivo confocal microscopy findings in a patient with posterior amorphous corneal dystrophy. ( 17300585 )
2007
8
Posterior amorphous corneal dystrophy: ultrasound biomicroscopy findings in two cases. ( 11862100 )
2002
9
Posterior amorphous corneal dystrophy. A new pedigree with phenotypic variation. ( 8600425 )
1996
10
Posterior amorphous corneal dystrophy. An ultrastructural study of a variant with histopathological features of an endothelial dystrophy. ( 1582220 )
1992
11
Penetrating keratoplasty in the management of posterior amorphous corneal dystrophy. ( 2234837 )
1990
12
The pathology of posterior amorphous corneal dystrophy. ( 2314832 )
1990
13
New findings in posterior amorphous corneal dystrophy. ( 6607727 )
1984
14
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 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 sphingolipid metabolic process GO:0006665 9.48 ACER1 ASAH2
2 intra-Golgi vesicle-mediated transport GO:0006891 9.46 COG2 COG6
3 keratan sulfate biosynthetic process GO:0018146 9.43 KERA LUM
4 sphingolipid biosynthetic process GO:0030148 9.43 ACER1 ACER2 ACER3
5 calcium-mediated signaling using intracellular calcium source GO:0035584 9.4 PRNP PTPRC
6 long-chain fatty acid biosynthetic process GO:0042759 9.37 ASAH2 ASAH2B
7 ceramide catabolic process GO:0046514 9.33 ACER1 ASAH2 ASAH2B
8 keratan sulfate catabolic process GO:0042340 9.32 KERA LUM
9 ceramide metabolic process GO:0006672 9.26 ACER1 ACER2 ACER3 ASAH2
10 sphingosine biosynthetic process GO:0046512 9.02 ACER1 ACER2 ACER3 ASAH2 ASAH2B

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.87 ACER1 ACER2 ACER3 ASAH2 MGAM PTPRC
2 glycosaminoglycan binding GO:0005539 9.37 EPYC PRNP
3 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides GO:0016811 9.33 ACER1 ACER2 ACER3
4 dihydroceramidase activity GO:0071633 9.26 ACER1 ACER2
5 ceramidase activity GO:0102121 9.13 ACER1 ACER2 ASAH2
6 N-acylsphingosine amidohydrolase activity GO:0017040 8.92 ACER1 ACER2 ASAH2 ASAH2B

Sources for Corneal Dystrophy, Posterior Amorphous

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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