MCID: CRN231
MIFTS: 35

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 49 67
Posterior Polymorphous Corneal Dystrophy 10 47 12 51
Ppcd 10 51 67
Polymorphous Posterior Corneal Dystrophy 22 24
Schlichting Dystrophy 10 51
Corneal Dystrophy, Hereditary Polymorphous Posterior 11
 
Hereditary Polymorphous Posterior Corneal Dystrophy 67
Hereditary Polymorphus Posterior Corneal Dystrophy 10
Corneal Dystrophy, Polymorphous Posterior 22
Posterior Polymorphous Dystrophy 51
Polymorphous Corneal Dystrophy 65
Ppcd1 67

Characteristics:

Orphanet epidemiological data:

51
posterior polymorphous corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

61
corneal dystrophy, posterior polymorphous, 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 122000
Disease Ontology10 DOID:0060457
ICD1027 H18.5
Orphanet51 98973
ICD10 via Orphanet28 H18.5
MedGen34 C0339284
UMLS65 C0339284

Summaries for Corneal Dystrophy, Posterior Polymorphous, 1

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OMIM:49 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 dystrophy, congenital stromal, and has symptoms including polymorphous posterior corneal dystrophy, obesity and corneal dystrophy. 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 vision/eye and hearing/vestibular/ear.

UniProtKB/Swiss-Prot:67 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:68 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 top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy, posterior polymorphous 211.7
2corneal dystrophy, congenital stromal10.5
3seizure disorder10.4
4ataxia with vitamin e deficiency10.4COL4A3, COL4A4
5corneal endothelial dystrophy 1, autosomal dominant10.3HPD, OVOL2, VSX1
6corneal dystrophy, posterior polymorphous, 110.3HPD, OVOL2, VSX1
7alport syndrome, autosomal dominant10.3COL4A3, COL4A4
8hematuria, benign familial10.3COL4A3, COL4A4
9alport syndrome, autosomal recessive10.3COL4A3, COL4A4
10epidermolysis bullosa simplex, koebner type10.2COL8A2, KRT3
11keratopathy10.2COL8A2, KRT3, VSX1
12basilar migraine10.2COL4A3, COL4A4
13lymphoepithelioma-like carcinoma10.2
14epithelial basement membrane dystrophy10.2COL8A2, SLC4A11, VSX1, ZEB1
15hypersensitivity vasculitis10.2COL4A3, COL4A4
16lymphoproliferative syndrome, x-linked, 210.2COL8A2, HIST1H3A, SLC4A11, VSX1
17bullous keratopathy10.1COL8A2, SLC4A11
18fuchs' endothelial dystrophy10.1CDK13, COL8A2, KRT3, SLC4A11
19corneal dystrophy, epithelial basement membrane10.1CDK13, COL8A2, KRT3, SLC4A11
20rheumatoid arthritis10.1
21systemic lupus erythematosus10.1
22lung cancer10.1
23obesity10.1
24alagille syndrome10.1
25arthritis10.1
26diabetic foot ulcers10.1
27hepatitis10.1
28leukemia10.1
29ulcerative colitis10.1
30lymphoma10.1
31colitis10.1
32pelvic inflammatory disease10.1
33sarcoma10.1
34primary hyperparathyroidism10.1
35epidural abscess10.1
36hyperparathyroidism10.1
37campylobacteriosis10.1
38encephalomalacia10.1
39spondylosis10.1
40kidney cancer10.1
41adenofibroma10.1
42ostertagiasis10.1
43plexiform neurofibroma10.1
44borna disease10.1
45cerebrovascular disease10.1
46interdigitating dendritic cell sarcoma10.1
47dendritic cell sarcoma10.1
48peritonitis10.1
49actinomycosis10.1
50lupus erythematosus10.1

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 polymorphous posterior corneal dystrophy HP:0007915
2 obesity HP:0001513
3 corneal dystrophy HP:0001131
4 widely spaced teeth HP:0000687
5 glaucoma HP:0000501
6 keratitis HP:0000491

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

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 Corneal Dystrophy, Polymorphous Posterior22 VSX1

Anatomical Context for Corneal Dystrophy, Posterior Polymorphous, 1

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

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1COL4A3, COL4A4, COL8A2, OVOL2, SLC4A11, VSX1
2MP:00053779.1COL4A3, COL4A4, OVOL2, SLC4A11, ZEB1

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:

67
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
1OVOL2NG_046859.1: g.6194_6215dup22duplicationPathogenicrs869320627GRCh37Chr 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
5VSX1NM_014588.5(VSX1): c.479G> A (p.Gly160Asp)single nucleotide variantPathogenicrs74315433GRCh37Chr 20, 25060096: 25060096

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

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix disassemblyGO:00226179.8COL4A3, COL4A4, COL8A2
2collagen catabolic processGO:00305749.7COL4A3, COL4A4, COL8A2

Sources for Corneal Dystrophy, Posterior Polymorphous, 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet