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

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
ICD1030 H18.5
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 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 Negative genetic interaction between BLM-/- and BLM+/+ and hearing/vestibular/ear.

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.

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 31)
idRelated DiseaseScoreTop Affiliating Genes
1corneal endothelial dystrophy 1, autosomal dominant27.3CAPN6, COL4A3, COL4A4, COL8A2, CRTC3, DZANK1
2corneal endothelial dystrophy 2, autosomal recessive11.2
3corneal endothelial dystrophy type 211.2
4corneal dystrophy, posterior polymorphous 211.2
5corneal dystrophy, congenital stromal11.0
6corneal dystrophy10.7
7hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase10.6OVOL2, SLC4A11
8hypogonadotropic hypogonadism 21 with anosmia10.6OVOL2, VSX1
9craniofacial anomalies and anterior segment dysgenesis syndrome10.5OVOL2, VSX1
10autosomal dominant nocturnal frontal lobe epilepsy10.5COL4A3, COL4A4
11alport syndrome, autosomal dominant10.4COL4A3, COL4A4
12acute serous otitis media10.4COL8A2, KRT3, SLC4A11
13corneal dystrophy, epithelial basement membrane10.4COL8A2, KRT3, SLC4A11
14hematuria, benign familial10.4COL4A3, COL4A4
15leber congenital amaurosis10.3COL4A4, COL8A2, VSX1
16alport syndrome, autosomal recessive10.3COL4A3, COL4A4
17vulvar leiomyoma10.3COL4A3, COL4A4
18secondary corneal edema10.3COL8A2, SLC4A11
19acute allergic serous otitis media10.3COL8A2, SLC4A11, VSX1, ZEB1
20endotheliitis10.3
21angioedema induced by ace inhibitors10.2COL8A2, ITGBL1, SLC4A11, VSX1
22cerebral artery occlusion10.1COL8A2, KRT3, SLC4A11, VSX1, ZEB1
23epidermolysis bullosa simplex, weber-cockayne type10.1COL8A2, KRT3
24retinal drusen10.1COL8A2, KRT3, SLC4A11, VSX1, ZEB1
25keratoconus10.0
26fuchs' endothelial dystrophy10.0
27alport syndrome9.8
28meesmann corneal dystrophy9.8
29cataract9.8
30amblyopia9.8
31juvenile glaucoma9.8

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-19.9COL8A2, 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:000537710.2COL4A3, COL4A4, OVOL2, SLC4A11, ZEB1
2MP:00053919.0COL4A3, 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
1SLC4A11NM_001174089.1(SLC4A11): c.425_433delGCTTCGCCAinsC (p.Arg142Profs)indelPathogenicrs797045107GRCh38Chr 20, 3234173: 3234181
2OVOL2NM_021220.3(OVOL2): c.-361_-340dup22duplicationPathogenicrs869320627GRCh37Chr 20, 18038618: 18038639
3OVOL2NM_021220.3(OVOL2): c.-370T> CSNVPathogenicrs869320628GRCh38Chr 20, 18058004: 18058004
4OVOL2NM_021220.3(OVOL2): c.-307T> CSNVPathogenicrs869320629GRCh37Chr 20, 18038585: 18038585
5OVOL2NM_021220.3(OVOL2): c.-274T> GSNVPathogenicrs869320630GRCh38Chr 20, 18057908: 18057908
6VSX1NM_014588.5(VSX1): c.50T> C (p.Leu17Pro)SNVPathogenicrs74315436GRCh37Chr 20, 25062683: 25062683

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:000560410.0COL4A3, 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