PACD
MCID: CRN274
MIFTS: 32

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 58 45 74
Posterior Amorphous Corneal Dystrophy 58 12 60 15
Pacd 58 12 60
Chromosome 12q21.33 Deletion Syndrome 58
Posterior Amorphous Stromal Dystrophy 60

Characteristics:

Orphanet epidemiological data:

60
posterior amorphous corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
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: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060452
OMIM 58 612868
MeSH 45 C567546
ICD10 34 H18.5
ICD10 via Orphanet 35 H18.5
UMLS via Orphanet 75 C2748502
Orphanet 60 ORPHA98971
MedGen 43 C2748502
UMLS 74 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 rapidly involuting congenital hemangioma. An important gene associated with Corneal Dystrophy, Posterior Amorphous is PACD (Corneal Dystrophy, Posterior Amorphous), and among its related pathways/superpathways are Retrograde transport at the Trans-Golgi-Network and Intra-Golgi traffic. Affiliated tissues include eye and endothelial, and related phenotypes are iris coloboma and ectopia pupillae

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 rapidly involuting congenital hemangioma 10.2
3 corneal dystrophy, congenital stromal 10.1 KERA LUM
4 cornea plana 10.0 EPYC KERA LUM
5 stromal dystrophy 10.0 EPYC KERA LUM
6 cloacogenic carcinoma 9.9 KERA PTPRC
7 hyperlipoproteinemia, type iii 9.8 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

Human phenotypes related to Corneal Dystrophy, Posterior Amorphous:

33
# Description HPO Frequency HPO Source Accession
1 iris coloboma 33 occasional (7.5%) HP:0000612
2 ectopia pupillae 33 occasional (7.5%) HP:0009918
3 corneal dystrophy 33 HP:0001131
4 hypermetropia 33 HP:0000540

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Corneal Dystrophy, Posterior Amorphous:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.17 COG2 COG6 KERA LUM NOC2L PRNP

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:

42
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 )
2017
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 10.65 COG2 COG6
2 10.28 COG2 COG6

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 intra-Golgi vesicle-mediated transport GO:0006891 9.26 COG2 COG6
2 keratan sulfate biosynthetic process GO:0018146 9.16 KERA LUM
3 calcium-mediated signaling using intracellular calcium source GO:0035584 8.96 PRNP PTPRC
4 keratan sulfate catabolic process GO:0042340 8.62 KERA LUM

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 8.62 EPYC PRNP

Sources for Corneal Dystrophy, Posterior Amorphous

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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