PACD
MCID: CRN274
MIFTS: 34

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 72
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
Miscellaneous:
nonprogressive
onset in infancy
contiguous gene deletion syndrome
variable clinical presentation of corneal findings
association with other ocular anomalies

Inheritance:
autosomal dominant


HPO:

32
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: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060452
OMIM 57 612868
MeSH 44 C567546
ICD10 33 H18.5
ICD10 via Orphanet 34 H18.5
UMLS via Orphanet 73 C2748502
Orphanet 59 ORPHA98971
MedGen 42 C2748502
UMLS 72 C2748502

Summaries for Corneal Dystrophy, Posterior Amorphous

MalaCards based summary : Corneal Dystrophy, Posterior Amorphous, also known as posterior amorphous corneal dystrophy, is related to stromal dystrophy and corneal dystrophy. 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. The drugs Montelukast and Respiratory System Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and endothelial, and related phenotypes are iris coloboma and ectopia pupillae

More information 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 stromal dystrophy 30.0 LUM KERA EPYC
2 corneal dystrophy 10.5
3 rapidly involuting congenital hemangioma 10.3
4 astigmatism 10.2
5 corneal disease 10.2
6 corneal ectasia 10.2
7 corneal dystrophy, congenital stromal 10.0 LUM KERA
8 cornea plana 9.9 LUM KERA EPYC
9 cloacogenic carcinoma 9.6 PTPRC KERA

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:

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

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

MGI Mouse Phenotypes related to Corneal Dystrophy, Posterior Amorphous:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.5 COG2 COG6 KERA LUM NOC2L PRNP
2 immune system MP:0005387 9.17 COG6 EPYC KERA LUM NOC2L PRNP

Drugs & Therapeutics for Corneal Dystrophy, Posterior Amorphous

Drugs for Corneal Dystrophy, Posterior Amorphous (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Montelukast Approved Phase 2 158966-92-8 5281040
2 Respiratory System Agents Phase 2
3 Cytochrome P-450 Enzyme Inducers Phase 2
4 Hormone Antagonists Phase 2
5 Hormones Phase 2
6 Anti-Asthmatic Agents Phase 2
7 Leukotriene Antagonists Phase 2
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
9
Penciclovir Approved 39809-25-1 4725

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pragmatic RCT of High-dose Oral Montelukast for Moderate and Severe Pediatric Acute Asthma Exacerbations Not yet recruiting NCT03277170 Phase 2 Montelukast Oral Granules
2 Pseudophakic Anterior Chamber Depth Measurement in Second Eye Refinement Cataract Surgery Completed NCT02423668

Search 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 16)
# Title Authors PMID Year
1
Posterior amorphous corneal dystrophy caused by a de novo deletion. 38 8
27096414 2017
2
Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. 38 8
24759697 2014
3
Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. 38 8
20357198 2010
4
The pathology of posterior amorphous corneal dystrophy. 38 8
2314832 1990
5
New findings in posterior amorphous corneal dystrophy. 38 8
6607727 1984
6
Posterior amorphous corneal dystrophy. 38 8
301356 1977
7
The IC3D classification of the corneal dystrophies. 8
19337156 2008
8
Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion. 38
30058938 2018
9
Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy. 38
29671669 2018
10
Posterior Amorphous Corneal Dystrophy Associated With Keratoglobus: A Case Report. 38
28902010 2017
11
In vivo confocal microscopy findings in a patient with posterior amorphous corneal dystrophy. 38
17300585 2007
12
[Posterior amorphous corneal dystrophy: case report]. 38
17273695 2006
13
Posterior amorphous corneal dystrophy: ultrasound biomicroscopy findings in two cases. 38
11862100 2002
14
Posterior amorphous corneal dystrophy. A new pedigree with phenotypic variation. 38
8600425 1996
15
Posterior amorphous corneal dystrophy. An ultrastructural study of a variant with histopathological features of an endothelial dystrophy. 38
1582220 1992
16
Penetrating keratoplasty in the management of posterior amorphous corneal dystrophy. 38
2234837 1990

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 10.85 COG6 COG2
2 10.61 COG6 COG2
3
Show member pathways
9.95 LUM KERA

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 COG6 COG2

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

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 PRNP EPYC

Sources for Corneal Dystrophy, Posterior Amorphous

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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