PPCD1
MCID: CRN231
MIFTS: 35

Corneal Dystrophy, Posterior Polymorphous, 1 (PPCD1) malady

Categories: Genetic diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Posterior Polymorphous, 1

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Aliases & Descriptions for Corneal Dystrophy, Posterior Polymorphous, 1:

Name: Corneal Dystrophy, Posterior Polymorphous, 1 52 24 70 39
Posterior Polymorphous Corneal Dystrophy 11 24 54 50 13
Corneal Endothelial Dystrophy 1, Autosomal Dominant 11 70 68
Posterior Polymorphous Corneal Dystrophy 1 11 27 13
Maumenee Corneal Dystrophy 11 24 70
Ppcd1 11 24 70
Ppcd 11 54 70
Corneal Dystrophy, Hereditary Polymorphous Posterior 24 12
Polymorphous Posterior Corneal Dystrophy 24 27
Schlichting Dystrophy 11 54
 
Ched1 11 70
Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly 24
Hereditary Polymorphous Posterior Corneal Dystrophy 70
Hereditary Polymorphus Posterior Corneal Dystrophy 11
Corneal Dystrophy, Polymorphous Posterior 24
Posterior Polymorphous Dystrophy 54
Corneal Endothelial Dystrophy 2 68
Polymorphous Corneal Dystrophy 68
Ched1, Formerly 24

Characteristics:

Orphanet epidemiological data:

54
posterior polymorphous corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

64
corneal dystrophy, posterior polymorphous, 1:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 122000
Disease Ontology11 DOID:0060457, DOID:0110855
ICD1030 H18.5, H18.50
Orphanet54 ORPHA98973
ICD10 via Orphanet31 H18.5
MedGen37 C0339284

Summaries for Corneal Dystrophy, Posterior Polymorphous, 1

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OMIM:52 Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal... (122000) more...

MalaCards based summary: Corneal Dystrophy, Posterior Polymorphous, 1, also known as posterior polymorphous corneal dystrophy, is related to corneal dystrophy, posterior polymorphous 2 and corneal endothelial dystrophy 1, autosomal dominant, and has symptoms including keratitis, glaucoma and widely spaced teeth. An important gene associated with Corneal Dystrophy, Posterior Polymorphous, 1 is VSX1 (Visual System Homeobox 1). Affiliated tissues include endothelial and eye, and related mouse phenotypes are Negative genetic interaction between BLM-/- and BLM+/+ and vision/eye.

UniProtKB/Swiss-Prot:70 Corneal dystrophy, posterior polymorphous, 1: A rare corneal disorder characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, an altered corneal endothelial cell structure, and an unusual proliferation of endothelial cells. Symptoms can range from very aggressive to asymptomatic and non-progressive, even within the same family.

Disease Ontology:11 A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.

Wikipedia:71 Posterior Polymorphous Corneal Dystrophy (PPCD; sometimes also Schlichting dystrophy) is a type of... more...

Related Diseases for Corneal Dystrophy, Posterior Polymorphous, 1

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Diseases in the Corneal Dystrophy, Posterior Polymorphous, 1 family:

Corneal Dystrophy, Posterior Polymorphous 2 Corneal Dystrophy, Posterior Polymorphous, 3

Diseases related to Corneal Dystrophy, Posterior Polymorphous, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy, posterior polymorphous 232.9COL8A2, SLC4A11, VSX1, ZEB1
2corneal endothelial dystrophy 1, autosomal dominant30.0CAPN6, COL4A3, COL4A4, COL8A2, DZANK1, ITGBL1
3corneal dystrophy, posterior polymorphous, 311.8
4corneal endothelial dystrophy 2, autosomal recessive11.2
5corneal endothelial dystrophy type 211.2
6corneal dystrophy, congenital stromal11.0
7corneal dystrophy10.7
8endotheliitis10.3
9hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase10.2OVOL2, SLC4A11
10brca1- and brca2-associated hereditary breast and ovarian cancer10.2COL4A3, COL4A4
11enophthalmos10.2COL8A2, VSX1
12alport syndrome, autosomal dominant10.2COL4A3, COL4A4
13eosinophilic fasciitis10.2COL4A3, COL4A4
14muscular dystrophy, limb-girdle, type 1a10.2COL8A2, KRT3, SLC4A11
15angioedema induced by ace inhibitors10.1COL8A2, PREX2, SLC4A11, VSX1
16arthrogryposis, distal, type 5d10.1COL4A3, COL4A4
17chondrocalcinosis10.1COL8A2, SLC4A11, VSX1, ZEB1
18hematuria, benign familial10.0COL4A3, COL4A4
19desbuquois dysplasia10.0COL8A2, KRT3, OVOL2, SLC4A11, VSX1
20venous insufficiency10.0COL8A2, KRT3, SLC4A11, VSX1, ZEB1
21malignant histiocytic disease10.0COL8A2, KRT3, OVOL2, SLC4A11, VSX1, ZEB1
22keratoconus9.9
23fuchs' endothelial dystrophy9.9
24deafness, autosomal recessive 309.9COL4A3, COL4A4, COL8A2, OVOL2, SLC4A11, VSX1
25alport syndrome9.8
26meesmann corneal dystrophy9.8
27cataract9.8
28amblyopia9.8
29juvenile glaucoma9.8
30corneal endothelial dystrophy9.8

Graphical network of the top 20 diseases related to Corneal Dystrophy, Posterior Polymorphous, 1:



Diseases related to corneal dystrophy, posterior polymorphous, 1

Symptoms & Phenotypes for Corneal Dystrophy, Posterior Polymorphous, 1

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Symptoms by clinical synopsis from OMIM:

122000

Clinical features from OMIM:

122000

Human phenotypes related to Corneal Dystrophy, Posterior Polymorphous, 1:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 keratitis64 HP:0000491
2 glaucoma64 HP:0000501
3 widely spaced teeth64 HP:0000687
4 corneal dystrophy64 HP:0001131
5 obesity64 HP:0001513
6 polymorphous posterior corneal dystrophy64 HP:0007915

GenomeRNAi Phenotypes related to Corneal Dystrophy, Posterior Polymorphous, 1 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00255-A-19.8COL8A2, KIF3B, OVOL2, SCP2D1, VSX1

MGI Mouse Phenotypes related to Corneal Dystrophy, Posterior Polymorphous, 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.9COL4A3, COL4A4, COL8A2, OVOL2, SLC4A11, VSX1

Drugs & Therapeutics for Corneal Dystrophy, Posterior Polymorphous, 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Corneal Dystrophy, Posterior Polymorphous, 1


Cochrane evidence based reviews: corneal dystrophy, posterior polymorphous, 1

Genetic Tests for Corneal Dystrophy, Posterior Polymorphous, 1

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Genetic tests related to Corneal Dystrophy, Posterior Polymorphous, 1:

id Genetic test Affiliating Genes
1 Posterior Polymorphous Corneal Dystrophy 127
2 Polymorphous Posterior Corneal Dystrophy27
3 Corneal Dystrophy, Polymorphous Posterior24 VSX1
4 Corneal Dystrophy, Posterior Polymorphous, 124 OVOL2

Anatomical Context for Corneal Dystrophy, Posterior Polymorphous, 1

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MalaCards organs/tissues related to Corneal Dystrophy, Posterior Polymorphous, 1:

36
Endothelial, Eye

Publications for Corneal Dystrophy, Posterior Polymorphous, 1

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Variations for Corneal Dystrophy, Posterior Polymorphous, 1

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Clinvar genetic disease variations for Corneal Dystrophy, Posterior Polymorphous, 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1OVOL2NM_ 021220.3(OVOL2): c.-361_ -340dup22duplicationPathogenicrs869320627GRCh37Chr 20, 18038618: 18038639
2OVOL2NM_ 021220.3(OVOL2): c.-370T> CSNVPathogenicrs869320628GRCh38Chr 20, 18058004: 18058004
3OVOL2NM_ 021220.3(OVOL2): c.-307T> CSNVPathogenicrs869320629GRCh37Chr 20, 18038585: 18038585
4OVOL2NM_ 021220.3(OVOL2): c.-274T> GSNVPathogenicrs869320630GRCh38Chr 20, 18057908: 18057908

Expression for genes affiliated with Corneal Dystrophy, Posterior Polymorphous, 1

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Search GEO for disease gene expression data for Corneal Dystrophy, Posterior Polymorphous, 1.

Pathways for genes affiliated with Corneal Dystrophy, Posterior Polymorphous, 1

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GO Terms for genes affiliated with Corneal Dystrophy, Posterior Polymorphous, 1

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Cellular components related to Corneal Dystrophy, Posterior Polymorphous, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:000560410.3COL4A3, COL4A4, COL8A2
2collagen type IV trimerGO:000558710.0COL4A3, COL4A4
3collagen trimerGO:00055819.9COL4A3, COL4A4, COL8A2

Biological processes related to Corneal Dystrophy, Posterior Polymorphous, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:003057410.0COL4A3, COL4A4, COL8A2
2glomerular basement membrane developmentGO:003283610.0COL4A3, COL4A4

Molecular functions related to Corneal Dystrophy, Posterior Polymorphous, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.8COL4A3, COL4A4, COL8A2

Sources for Corneal Dystrophy, Posterior Polymorphous, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet