MCID: CRN231
MIFTS: 36

Corneal Dystrophy, Posterior Polymorphous, 1 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 50 68 25 37
Posterior Polymorphous Corneal Dystrophy 11 13 52 48
Ppcd 11 52 68
Polymorphous Posterior Corneal Dystrophy 23 25
Schlichting Dystrophy 11 52
Corneal Dystrophy, Hereditary Polymorphous Posterior 12
Corneal Endothelial Dystrophy 1, Autosomal Dominant 68
Hereditary Polymorphous Posterior Corneal Dystrophy 68
 
Hereditary Polymorphus Posterior Corneal Dystrophy 11
Corneal Dystrophy, Polymorphous Posterior 23
Posterior Polymorphous Dystrophy 52
Polymorphous Corneal Dystrophy 66
Maumenee Corneal Dystrophy 68
Ched1 68
Ppcd1 68

Characteristics:

Orphanet epidemiological data:

52
posterior polymorphous corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

62
corneal dystrophy, posterior polymorphous, 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 122000
Disease Ontology11 DOID:0060457
ICD1028 H18.5
Orphanet52 ORPHA98973
ICD10 via Orphanet29 H18.5
MedGen35 C0339284

Summaries for Corneal Dystrophy, Posterior Polymorphous, 1

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OMIM:50 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 endothelial dystrophy 1, autosomal dominant and corneal endothelial dystrophy 2, autosomal recessive, 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 hearing/vestibular/ear and vision/eye.

UniProtKB/Swiss-Prot:68 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.

Wikipedia:69 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 33)
idRelated DiseaseScoreTop Affiliating Genes
1corneal endothelial dystrophy 1, autosomal dominant26.5CAPN6, COL4A3, COL4A4, COL8A2, CRTC3, DZANK1
2corneal endothelial dystrophy 2, autosomal recessive11.3
3corneal endothelial dystrophy type 211.3
4corneal dystrophy, posterior polymorphous 211.3
5corneal dystrophy10.8
6hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase10.6OVOL2, SLC4A11
7hypogonadotropic hypogonadism 21 with anosmia10.6HPD, OVOL2, VSX1
8craniofacial anomalies and anterior segment dysgenesis syndrome10.6HPD, OVOL2, VSX1
9autosomal dominant nocturnal frontal lobe epilepsy10.5COL4A3, COL4A4
10alport syndrome, autosomal dominant10.5COL4A3, COL4A4
11hematuria, benign familial10.4COL4A3, COL4A4
12acute serous otitis media10.4COL8A2, KRT3, SLC4A11
13corneal dystrophy, epithelial basement membrane10.4COL8A2, KRT3, SLC4A11
14leber congenital amaurosis10.4COL4A4, COL8A2, VSX1
15alport syndrome, autosomal recessive10.4COL4A3, COL4A4
16vulvar leiomyoma10.4COL4A3, COL4A4
17endotheliitis10.4
18chromosome 3q29 microduplication syndrome10.4COL8A2, SLC4A11, VSX1, ZEB1
19secondary corneal edema10.3COL8A2, SLC4A11
20acute allergic serous otitis media10.3COL8A2, SLC4A11, VSX1, ZEB1
21angioedema induced by ace inhibitors10.2COL8A2, ITGBL1, SLC4A11, VSX1
22cerebral artery occlusion10.1COL8A2, KRT3, SLC4A11, VSX1, ZEB1
23retinal drusen10.1COL8A2, KRT3, SLC4A11, VSX1, ZEB1
24epidermolysis bullosa simplex, weber-cockayne type10.1COL8A2, KRT3
25corneal dystrophy, congenital stromal10.1
26keratoconus10.1
27endothelial dystrophy10.1
28fuchs' endothelial dystrophy10.1
29alport syndrome9.9
30meesmann corneal dystrophy9.9
31cataract9.9
32amblyopia9.9
33juvenile glaucoma9.9

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



Diseases related to corneal dystrophy, posterior polymorphous, 1

Symptoms for Corneal Dystrophy, Posterior Polymorphous, 1

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Symptoms by clinical synopsis from OMIM:

122000

Clinical features from OMIM:

122000

HPO human phenotypes related to Corneal Dystrophy, Posterior Polymorphous, 1:

(show all 6)
id Description Frequency HPO Source Accession
1 keratitis HP:0000491
2 glaucoma HP:0000501
3 widely spaced teeth HP:0000687
4 corneal dystrophy HP:0001131
5 obesity HP:0001513
6 polymorphous posterior corneal dystrophy HP:0007915

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 125
2 Polymorphous Posterior Corneal Dystrophy25
3 Corneal Dystrophy, Polymorphous Posterior23 VSX1

Anatomical Context for Corneal Dystrophy, Posterior Polymorphous, 1

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

34
Endothelial, Eye

Animal Models for Corneal Dystrophy, Posterior Polymorphous, 1 or affiliated genes

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MGI Mouse Phenotypes related to Corneal Dystrophy, Posterior Polymorphous, 1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6COL4A3, COL4A4, OVOL2, SLC4A11, ZEB1
2MP:00053919.0COL4A3, COL4A4, COL8A2, OVOL2, SLC4A11, VSX1

Publications for Corneal Dystrophy, Posterior Polymorphous, 1

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Variations for Corneal Dystrophy, Posterior Polymorphous, 1

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UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Posterior Polymorphous, 1:

68
id Symbol AA change Variation ID SNP ID
1VSX1p.Asp144GluVAR_014243rs140122268

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> Csingle nucleotide variantPathogenicrs869320628GRCh38Chr 20, 18058004: 18058004
3OVOL2NM_021220.3(OVOL2): c.-307T> Csingle nucleotide variantPathogenicrs869320629GRCh37Chr 20, 18038585: 18038585
4OVOL2NM_021220.3(OVOL2): c.-274T> Gsingle nucleotide variantPathogenicrs869320630GRCh38Chr 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
1collagen type IV trimerGO:000558710.0COL4A3, COL4A4
2basement membraneGO:00056049.8COL4A3, COL4A4, COL8A2

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

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:003283610.3COL4A3, COL4A4
2collagen catabolic processGO:00305749.8COL4A3, COL4A4, COL8A2

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet