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

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

Name: Corneal Dystrophy, Posterior Polymorphous, 1 54 24 66 42
Posterior Polymorphous Corneal Dystrophy 12 24 56 52 14
Corneal Endothelial Dystrophy 1, Autosomal Dominant 12 66 69
Posterior Polymorphous Corneal Dystrophy 1 12 29 14
Maumenee Corneal Dystrophy 12 24 66
Ppcd1 12 24 66
Ppcd 12 56 66
Corneal Dystrophy, Hereditary Polymorphous Posterior 24 13
Polymorphous Posterior Corneal Dystrophy 24 29
Schlichting Dystrophy 12 56
Ched1 12 66
Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly 24
Hereditary Polymorphous Posterior Corneal Dystrophy 66
Hereditary Polymorphus Posterior Corneal Dystrophy 12
Corneal Dystrophy, Polymorphous Posterior 24
Posterior Polymorphous Dystrophy 56
Corneal Endothelial Dystrophy 2 69
Polymorphous Corneal Dystrophy 69
Ched1, Formerly 24

Characteristics:

Orphanet epidemiological data:

56
posterior polymorphous corneal dystrophy
Inheritance: Autosomal dominant; Age of onset: Childhood;

HPO:

32
corneal dystrophy, posterior polymorphous, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 122000
Disease Ontology 12 DOID:0060457 DOID:0110855
ICD10 33 H18.5 H18.50
Orphanet 56 ORPHA98973
ICD10 via Orphanet 34 H18.5
MedGen 40 C0339284

Summaries for Corneal Dystrophy, Posterior Polymorphous, 1

OMIM : 54 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 obesity, widely spaced teeth 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 phenotypes are Negative genetic interaction between BLM-/- and BLM+/+ and vision/eye

Disease Ontology : 12 A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.

UniProtKB/Swiss-Prot : 66 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

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)
id Related Disease Score Top Affiliating Genes
1 corneal dystrophy, posterior polymorphous 2 32.9 COL8A2 SLC4A11 VSX1 ZEB1
2 corneal endothelial dystrophy 1, autosomal dominant 30.0 CAPN6 COL4A3 COL4A4 COL8A2 DZANK1 ITGBL1
3 corneal dystrophy, posterior polymorphous, 3 11.8
4 corneal endothelial dystrophy 2, autosomal recessive 11.2
5 corneal endothelial dystrophy type 2 11.2
6 corneal dystrophy, congenital stromal 11.0
7 corneal dystrophy 10.7
8 endotheliitis 10.3
9 hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase 10.2 OVOL2 SLC4A11
10 brca1- and brca2-associated hereditary breast and ovarian cancer 10.2 COL4A3 COL4A4
11 enophthalmos 10.2 COL8A2 VSX1
12 alport syndrome, autosomal dominant 10.2 COL4A3 COL4A4
13 eosinophilic fasciitis 10.2 COL4A3 COL4A4
14 muscular dystrophy, limb-girdle, type 1a 10.2 COL8A2 KRT3 SLC4A11
15 angioedema induced by ace inhibitors 10.1 COL8A2 PREX2 SLC4A11 VSX1
16 arthrogryposis, distal, type 5d 10.1 COL4A3 COL4A4
17 chondrocalcinosis 10.1 COL8A2 SLC4A11 VSX1 ZEB1
18 hematuria, benign familial 10.0 COL4A3 COL4A4
19 desbuquois dysplasia 10.0 COL8A2 KRT3 OVOL2 SLC4A11 VSX1
20 venous insufficiency 10.0 COL8A2 KRT3 SLC4A11 VSX1 ZEB1
21 malignant histiocytic disease 10.0 COL8A2 KRT3 OVOL2 SLC4A11 VSX1 ZEB1
22 keratoconus 9.9
23 fuchs' endothelial dystrophy 9.9
24 deafness, autosomal recessive 30 9.9 COL4A3 COL4A4 COL8A2 OVOL2 SLC4A11 VSX1
25 alport syndrome 9.8
26 meesmann corneal dystrophy 9.8
27 cataract 9.8
28 amblyopia 9.8
29 juvenile glaucoma 9.8
30 corneal endothelial dystrophy 9.8

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

Symptoms by clinical synopsis from OMIM:

122000

Clinical features from OMIM:

122000

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

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 widely spaced teeth 32 HP:0000687
3 corneal dystrophy 32 HP:0001131
4 keratitis 32 HP:0000491
5 glaucoma 32 HP:0000501
6 polymorphous posterior corneal dystrophy 32 HP:0007915

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between BLM-/- and BLM+/+ GR00255-A-1 9.02 COL8A2 KIF3B OVOL2 SCP2D1 VSX1

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.17 COL4A3 COL4A4 COL8A2 OVOL2 SLC4A11 VSX1

Drugs & Therapeutics for Corneal Dystrophy, Posterior Polymorphous, 1

Search Clinical Trials , 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

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

id Genetic test Affiliating Genes
1 Posterior Polymorphous Corneal Dystrophy 1 29
2 Polymorphous Posterior Corneal Dystrophy 29
3 Corneal Dystrophy, Polymorphous Posterior 24 VSX1
4 Corneal Dystrophy, Posterior Polymorphous, 1 24 OVOL2

Anatomical Context for Corneal Dystrophy, Posterior Polymorphous, 1

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

39
Endothelial, Eye

Publications for Corneal Dystrophy, Posterior Polymorphous, 1

Variations for Corneal Dystrophy, Posterior Polymorphous, 1

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 OVOL2 NM_021220.3(OVOL2): c.-361_-340dup22 duplication Pathogenic rs869320627 GRCh37 Chromosome 20, 18038618: 18038639
2 OVOL2 NM_021220.3(OVOL2): c.-370T> C single nucleotide variant Pathogenic rs869320628 GRCh38 Chromosome 20, 18058004: 18058004
3 OVOL2 NM_021220.3(OVOL2): c.-307T> C single nucleotide variant Pathogenic rs869320629 GRCh37 Chromosome 20, 18038585: 18038585
4 OVOL2 NM_021220.3(OVOL2): c.-274T> G single nucleotide variant Pathogenic rs869320630 GRCh38 Chromosome 20, 18057908: 18057908
5 ZEB1 NM_030751.5(ZEB1): c.973C> T (p.Arg325Ter) single nucleotide variant Pathogenic rs1057518956 GRCh38 Chromosome 10, 31520308: 31520308

Expression for Corneal Dystrophy, Posterior Polymorphous, 1

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

Pathways for Corneal Dystrophy, Posterior Polymorphous, 1

GO Terms for Corneal Dystrophy, Posterior Polymorphous, 1

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

id Name GO ID Score Top Affiliating Genes
1 collagen trimer GO:0005581 9.33 COL4A3 COL4A4 COL8A2
2 basement membrane GO:0005604 9.13 COL4A3 COL4A4 COL8A2
3 collagen type IV trimer GO:0005587 8.62 COL4A3 COL4A4

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

id Name GO ID Score Top Affiliating Genes
1 glomerular basement membrane development GO:0032836 8.96 COL4A3 COL4A4
2 collagen catabolic process GO:0030574 8.8 COL4A3 COL4A4 COL8A2

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 COL4A3 COL4A4 COL8A2

Sources for Corneal Dystrophy, Posterior Polymorphous, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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