PPCD1
MCID: CRN231
MIFTS: 50

Corneal Dystrophy, Posterior Polymorphous, 1 (PPCD1)

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

Aliases & Classifications for Corneal Dystrophy, Posterior Polymorphous, 1

MalaCards integrated aliases for Corneal Dystrophy, Posterior Polymorphous, 1:

Name: Corneal Dystrophy, Posterior Polymorphous, 1 56 73 43
Posterior Polymorphous Corneal Dystrophy 56 12 58 36 54 6 15
Posterior Polymorphous Corneal Dystrophy 1 12 29 6 15
Ppcd 56 12 58 73
Corneal Endothelial Dystrophy 1, Autosomal Dominant 12 73 71
Maumenee Corneal Dystrophy 56 12 73
Ppcd1 56 12 73
Corneal Dystrophy, Hereditary Polymorphous Posterior 56 13
Schlichting Dystrophy 12 58
Ched1 12 73
Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly; Ched1, Formerly 56
Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly 56
Hereditary Polymorphous Posterior Corneal Dystrophy 73
Hereditary Polymorphus Posterior Corneal Dystrophy 12
Dystrophy, Corneal, Posterior Polymorphous, Type 1 39
Posterior Polymorphous Corneal Dystrophy; Ppcd 56
Dystrophy, Corneal, Posterior Polymorphous 39
Posterior Polymorphous Dystrophy 58
Corneal Endothelial Dystrophy 2 71
Polymorphous Corneal Dystrophy 71
Ched1, Formerly 56

Characteristics:

Orphanet epidemiological data:

58
posterior polymorphous corneal dystrophy
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
interfamilial and intrafamilial variability in severity of symptoms
variable age at onset
some affected family members are asymptomatic
visual acuity varies from 20/20 to no light perception


HPO:

31
corneal dystrophy, posterior polymorphous, 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060457 DOID:0110855
OMIM 56 122000
OMIM Phenotypic Series 56 PS122000
KEGG 36 H00961
ICD10 32 H18.5 H18.50
ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 72 C0339284
Orphanet 58 ORPHA98973
UMLS 71 C0339284 C1852555 C1857569

Summaries for Corneal Dystrophy, Posterior Polymorphous, 1

OMIM : 56 Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells (Krafchak et al., 2005). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms can range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is, most often, in the second or third decade of life. Clinically, PPCD is characterized by vesicles, bands, and polymorphous opacities at the level of the Descemet membrane and corneal endothelium. Peripheral anterior iris adhesions, iris atrophy, pupillary ectropion, and corectopia may also develop. Occasional severe visual disability results from secondary glaucoma or corneal edema. On ultrastructural examination, corneal endothelial cells show fibroblastic and epithelial-like transformation (summary by Liskova et al., 2012). (122000)

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 edema. An important gene associated with Corneal Dystrophy, Posterior Polymorphous, 1 is OVOL2 (Ovo Like Zinc Finger 2). The drugs Propranolol and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and kidney, and related phenotypes are ectopia pupillae and thinning of descemet membrane

KEGG : 36 Posterior polymorphous corneal dystrophy (PPCD) is a very rare, bilateral autosomal dominant disorder affecting primarily the innermost corneal layers, Descemet membrane (DM), and the endothelium, biomicroscopically presenting as geographical lesions, bands, and vesicles. It primarily affects the corneal endothelium to produce epithelial-like transformation and irregular thickening of DM due to the deposition of an abnormal collagenous layer. Most cases are static, but occasionally rapid progression can result in severe visual disability from secondary glaucoma or corneal edema. Several genes have been reported as causing PPCD: OVOL2 associated with PPCD1, COL8A2 responsible for PPCD2, and ZEB1 shown to cause PPCD3. The contribution of changes in VSX1 and COL8A2 to the pathogenesis of this dystrophy is considered to be minor.

UniProtKB/Swiss-Prot : 73 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.

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
Corneal Dystrophy, Posterior Polymorphous, 4

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

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, posterior polymorphous, 2 33.8 ZEB1 VSX1 SLC4A11 OVOL2 DZANK1 COL8A2
2 corneal edema 31.2 ZEB1 VSX1 TGFBI SLC4A11 GRHL2 COL8A2
3 keratoconus 30.9 VSX1 TGFBI SLC4A11 COL8A2 COL8A1 COL4A3
4 irregular astigmatism 30.9 VSX1 TGFBI SLC4A11 COL8A2
5 corneal dystrophy, meesmann, 1 30.6 UBIAD1 TGFBI COL8A2
6 corneal ectasia 30.6 VSX1 TGFBI COL8A2 COL4A3
7 fuchs' endothelial dystrophy 30.6 ZEB1 VSX1 TGFBI SLC4A11 COL8A2 COL8A1
8 corneal dystrophy 30.5 ZEB1 VSX1 UBIAD1 TGFBI SLC4A11 OVOL2
9 posterior corneal dystrophy 30.5 ZEB1 GRHL2 COL8A2
10 corneal dystrophy, band-shaped 30.4 SLC4A11 COL8A2
11 corneal dystrophy, posterior polymorphous, 3 30.3 ZNF133 ZEB1 VSX1 UBIAD1 SLC4A11 OVOL2
12 schnyder corneal dystrophy 30.1 UBIAD1 TGFBI
13 corneal endothelial dystrophy 29.6 ZNF133 ZEB1 VSX1 UBIAD1 TGFBI SLC4A11
14 corneal endothelial dystrophy type 2 11.5
15 corneal dystrophy, congenital stromal 11.4
16 corneal dystrophy and perceptive deafness 11.3
17 congenital hereditary endothelial dystrophy type i 11.3
18 secondary corneal edema 10.5 SLC4A11 COL8A2
19 cogan-reese syndrome 10.5 OVOL2 COL8A2
20 stromal corneal dystrophy 10.4 UBIAD1 TGFBI
21 brittle cornea syndrome 2 10.4 VSX1 SLC4A11 COL8A2
22 corneal dystrophy, thiel-behnke type 10.4 UBIAD1 TGFBI COL8A2
23 macular dystrophy, corneal 10.4 UBIAD1 TGFBI COL8A2
24 corneal dystrophy, gelatinous drop-like 10.4 UBIAD1 TGFBI COL8A2
25 corneal dystrophy, endothelial, x-linked 10.4 VSX1 SLC4A11 COL8A2 CCM2L
26 corneal dystrophy, fleck 10.4 TGFBI SLC4A11 COL8A2
27 astigmatism 10.4
28 corneal dystrophy, avellino type 10.4 UBIAD1 TGFBI COL8A2
29 corneal deposit 10.4 UBIAD1 TGFBI
30 epithelial and subepithelial dystrophy 10.4 UBIAD1 TGFBI SLC4A11 COL8A2
31 stromal dystrophy 10.4 UBIAD1 TGFBI SLC4A11 COL8A2
32 recurrent corneal erosion 10.4 TGFBI COL8A2
33 corneal dystrophy, posterior polymorphous, 4 10.3
34 corneal degeneration 10.3 VSX1 UBIAD1 TGFBI SLC4A11 COL8A2
35 suppression amblyopia 10.3
36 amblyopia 10.3
37 refractive error 10.3
38 corneal dystrophy, reis-bucklers type 10.3 UBIAD1 TGFBI
39 corneal disease 10.3 ZEB1 VSX1 UBIAD1 TGFBI SLC4A11 COL8A2
40 inguinal hernia 10.2
41 myopia 10.2
42 granular corneal dystrophy 10.2 TGFBI COL8A2
43 retinal detachment 10.2
44 iridocorneal endothelial syndrome 10.2
45 macular degeneration, age-related, 1 10.2
46 epithelial basement membrane dystrophy 10.1
47 alport syndrome 10.1
48 regular astigmatism 10.1
49 cataract 10.1
50 hydrocele 10.1

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

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 ectopia pupillae 31 occasional (7.5%) HP:0009918
2 thinning of descemet membrane 31 occasional (7.5%) HP:0031159
3 iris atrophy 31 occasional (7.5%) HP:0001089
4 photophobia 31 HP:0000613
5 glaucoma 31 HP:0000501
6 anterior synechiae of the anterior chamber 31 HP:0011483
7 band keratopathy 31 HP:0000585
8 polymorphous posterior corneal dystrophy 31 HP:0007915
9 epiphora 31 HP:0009926
10 uveal ectropion 31 HP:0025358

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
corneal clouding
photophobia (in some patients)
epiphora (in some patients)
decreased vision (in most patients)
corneal edema (in some patients)
more

Clinical features from OMIM:

122000

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.36 COL4A3 COL8A1 COL8A2 DZANK1 GRHL2 OVOL2

Drugs & Therapeutics for Corneal Dystrophy, Posterior Polymorphous, 1

Drugs for Corneal Dystrophy, Posterior Polymorphous, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 4 525-66-6 4946
2 Neurotransmitter Agents Phase 4
3 Anti-Arrhythmia Agents Phase 4
4 Antihypertensive Agents Phase 4
5 Adrenergic beta-Antagonists Phase 4
6 Adrenergic Antagonists Phase 4
7 Vasodilator Agents Phase 4
8 Adrenergic Agents Phase 4
9 Adjuvants, Immunologic
10 Immunologic Factors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of Nonselective Beta-blocker on Acute Kidney Injury in Cirrhotic Patients With Esophageal Varices Recruiting NCT04074473 Phase 4 propranolol
2 Proteomics and Stem Cell Therapy as a New Vascularization Strategy Withdrawn NCT02408991 Phase 4 Neupogen
3 Albumin 4 gr/L vs 8 gr/L in the Prevention of Post-Paracentesis Circulatory Dysfunction in Cirrhotic Patients With Ascites Unknown status NCT00428506 Phase 2 albumin 4 gr/L ascites removed;albumin 8 gr/L ascites removed
4 F 18 T807 Tau PET Imaging of Progressive Posterior Cortical Dysfunction Due to Alzheimer Disease Enrolling by invitation NCT02414282 Phase 2 F 18 T807
5 Proteomics and Stem Cell Therapy as a New Vascularization Strategy Unknown status NCT02802852 Filgrastim
6 Evaluation of the Efficacy of Descemet Membrane Transplantation for the Treatment of Fuchs' Endothelial Dystrophy Recruiting NCT03275896 Early Phase 1

Search 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:

# Genetic test Affiliating Genes
1 Posterior Polymorphous Corneal Dystrophy 1 29 OVOL2

Anatomical Context for Corneal Dystrophy, Posterior Polymorphous, 1

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

40
Endothelial, Eye, Kidney

Publications for Corneal Dystrophy, Posterior Polymorphous, 1

Articles related to Corneal Dystrophy, Posterior Polymorphous, 1:

(show top 50) (show all 142)
# Title Authors PMID Year
1
Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. 54 61 56 6
16303937 2005
2
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. 54 61 56 6
16252232 2005
3
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2. 61 56 6
26749309 2016
4
High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation. 61 56 6
23049806 2012
5
Linkage of posterior polymorphous corneal dystrophy to 20q11. 61 56 6
7795607 1995
6
VSX1: a gene for posterior polymorphous dystrophy and keratoconus. 56 6
11978762 2002
7
Congenital endothelial corneal dystrophy. Clinical, pathological, and genetic study. 56 6
4900143 1969
8
VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. 54 61 6
15623752 2005
9
Genetics of the corneal endothelial dystrophies: an evidence-based review. 61 56
23662738 2013
10
Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes. 61 56
18253095 2008
11
Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients. 61 56
17289024 2007
12
Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20. 61 56
17438387 2007
13
Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. 61 6
12654361 2003
14
Posterior polymorphous corneal dystrophy: a disease characterized by epithelial-like endothelial cells which influence management and prognosis. 61 56
3914130 1985
15
Posterior polymorphous corneal dystrophy: recent developments. 61 56
6184085 1982
16
L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy. 6
23422828 2013
17
An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis. 6
22002996 2012
18
Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus. 6
21976959 2011
19
Mutational screening of VSX1 in keratoconus patients from the European population. 6
19763142 2010
20
British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene. 6
18024822 2007
21
Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. 6
15914606 2005
22
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 6
11689488 2001
23
Posterior polymorphous membranous dystrophy with overlapping features of iridocorneal endothelial syndrome. 56
11296040 2001
24
Linkage of congenital hereditary endothelial dystrophy to chromosome 20. 56
8634716 1995
25
Congenital hereditary corneal oedema of Maumenee: its clinical features, management, and pathology. 56
3548808 1987
26
Inheritance of Fuchs' combined dystrophy. 6
399801 1979
27
Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy. 56
306759 1978
28
The clinical spectrum of posterior polymorphous dystrophy. 56
302697 1977
29
Hereditary deep dystrophy of the cornea (polymorphous). 56
4187513 1969
30
Hereditary deep dystrophy of the cornea associated with glaucoma and ruptures in Descemet's membrane. 56
5299826 1968
31
Corneal opacities in infancy and childhood. 56
5946443 1966
32
POSTERIOR POLYMORPHOUS DEGENERATION OF THE CORNEA. 56
14177965 1964
33
Hereditary nonprogressive deep corneal dystrophy. 56
13755549 1961
34
Congenital hereditary corneal dystrophy. 56
13768390 1960
35
Hereditary polymorphous deep degeneration of the cornea. 56
13091521 1953
36
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. 54 61
20036349 2010
37
[Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]. 54 61
19507099 2009
38
Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. 54 61
18172091 2008
39
Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. 54 61
17935237 2007
40
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. 54 61
17437275 2007
41
No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. 54 61
15851557 2005
42
Candidate gene screening for posterior polymorphous dystrophy. 54 61
15725882 2005
43
CUGC for posterior polymorphous corneal dystrophy (PPCD). 61
31201376 2020
44
Alterations in GRHL2-OVOL2-ZEB1 axis and aberrant activation of Wnt signaling lead to altered gene transcription in posterior polymorphous corneal dystrophy. 61
31233731 2019
45
Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3. 61
30950897 2019
46
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis. 61
30851240 2019
47
Descemet membrane endothelial keratoplasty in iridocorneal endothelial syndrome and posterior polymorphous corneal dystrophy. 61
30975342 2019
48
Alport Patients without Classic Ocular Symptoms Have Smaller Lens Diameter. 61
30919828 2019
49
ZEB1 insufficiency causes corneal endothelial cell state transition and altered cellular processing. 61
31194824 2019
50
Investigating the Pathogenicity of VSX1 Missense Mutations and Their Association With Corneal Disease. 61
30535423 2018

Variations for Corneal Dystrophy, Posterior Polymorphous, 1

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

6 (show all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OVOL2 NM_001303461.1(OVOL2):c.-297+895_-297+916dupduplication Pathogenic 224837 rs869320627 20:18038617-18038618 20:18057973-18057974
2 OVOL2 NM_001303461.1(OVOL2):c.-297+886T>CSNV Pathogenic 224838 rs869320628 20:18038648-18038648 20:18058004-18058004
3 OVOL2 NM_001303461.1(OVOL2):c.-297+949T>CSNV Pathogenic 224839 rs869320629 20:18038585-18038585 20:18057941-18057941
4 OVOL2 NM_021220.4(OVOL2):c.-274T>GSNV Pathogenic 224840 rs869320630 20:18038552-18038552 20:18057908-18057908
5 ZEB1 NM_030751.6(ZEB1):c.973C>T (p.Arg325Ter)SNV Pathogenic 374184 rs1057518956 10:31809236-31809236 10:31520308-31520308
6 SLC4A11 NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile)SNV Conflicting interpretations of pathogenicity 769067 20:3208967-3208967 20:3228321-3228321
7 VSX1 NM_014588.5(VSX1):c.731A>G (p.His244Arg)SNV Conflicting interpretations of pathogenicity 337959 rs148957473 20:25058398-25058398 20:25077762-25077762
8 VSX1 NM_014588.5(VSX1):c.479G>A (p.Gly160Asp)SNV Conflicting interpretations of pathogenicity 5248 rs74315433 20:25060096-25060096 20:25079460-25079460
9 VSX1 NM_014588.5(VSX1):c.173C>T (p.Pro58Leu)SNV Conflicting interpretations of pathogenicity 337970 rs369865672 20:25062560-25062560 20:25081924-25081924
10 VSX1 NM_014588.5(VSX1):c.-61C>GSNV Uncertain significance 337972 rs886056558 20:25062793-25062793 20:25082157-25082157
11 VSX1 NM_014588.5(VSX1):c.-175C>GSNV Uncertain significance 337973 rs752774218 20:25062907-25062907 20:25082271-25082271
12 VSX1 NM_014588.5(VSX1):c.-239G>CSNV Uncertain significance 337975 rs886056559 20:25062971-25062971 20:25082335-25082335
13 VSX1 NM_014588.5(VSX1):c.-244G>TSNV Uncertain significance 337976 rs567067551 20:25062976-25062976 20:25082340-25082340
14 VSX1 NM_199425.2(VSX1):c.-271_-267GTGGG[3]short repeat Uncertain significance 337977 rs144366921 20:25062984-25062988 20:25082348-25082352
15 VSX1 NM_014588.5(VSX1):c.-271G>TSNV Uncertain significance 337979 rs886056560 20:25063003-25063003 20:25082367-25082367
16 VSX1 NM_014588.5(VSX1):c.*223G>ASNV Uncertain significance 337950 rs752720378 20:25056674-25056674 20:25076038-25076038
17 VSX1 NM_014588.5(VSX1):c.*88C>GSNV Uncertain significance 337955 rs886056556 20:25056809-25056809 20:25076173-25076173
18 VSX1 NM_014588.5(VSX1):c.*89T>CSNV Uncertain significance 337954 rs886056555 20:25056808-25056808 20:25076172-25076172
19 VSX1 NM_014588.5(VSX1):c.281C>A (p.Ala94Glu)SNV Uncertain significance 337968 rs886056557 20:25062452-25062452 20:25081816-25081816
20 VSX1 NM_014588.5(VSX1):c.*506T>CSNV Uncertain significance 337947 rs886056554 20:25056391-25056391 20:25075755-25075755
21 VSX1 NM_014588.5(VSX1):c.*159G>ASNV Uncertain significance 337953 rs747213856 20:25056738-25056738 20:25076102-25076102
22 VSX1 NM_014588.5(VSX1):c.*745G>ASNV Likely benign 337945 rs6050301 20:25056152-25056152 20:25075516-25075516
23 VSX1 NM_014588.5(VSX1):c.*199G>ASNV Likely benign 337952 rs145201675 20:25056698-25056698 20:25076062-25076062
24 VSX1 NM_014588.5(VSX1):c.474C>G (p.Thr158=)SNV Likely benign 337963 rs199995626 20:25060101-25060101 20:25079465-25079465
25 VSX1 NM_014588.5(VSX1):c.60C>T (p.Gly20=)SNV Likely benign 337971 rs776758064 20:25062673-25062673 20:25082037-25082037
26 VSX1 NM_014588.5(VSX1):c.-289C>GSNV Likely benign 369353 rs575314822 20:25063021-25063021 20:25082385-25082385
27 VSX1 NM_014588.5(VSX1):c.*200G>TSNV Likely benign 337951 rs75590263 20:25056697-25056697 20:25076061-25076061
28 VSX1 NM_014588.5(VSX1):c.*820T>CSNV Likely benign 337943 rs186958062 20:25056077-25056077 20:25075441-25075441
29 VSX1 NM_014588.5(VSX1):c.*749C>TSNV Likely benign 337944 rs191546716 20:25056148-25056148 20:25075512-25075512
30 VSX1 NM_014588.5(VSX1):c.*3C>ASNV Likely benign 337956 rs201807082 20:25056894-25056894 20:25076258-25076258
31 VSX1 NM_014588.5(VSX1):c.50T>C (p.Leu17Pro)SNV Likely benign 5251 rs74315436 20:25062683-25062683 20:25082047-25082047
32 VSX1 NM_014588.5(VSX1):c.740C>G (p.Pro247Arg)SNV Likely benign 337958 rs576300014 20:25058389-25058389 20:25077753-25077753
33 VSX1 NM_014588.5(VSX1):c.497G>A (p.Arg166Gln)SNV Likely benign 337961 rs150297220 20:25060078-25060078 20:25079442-25079442
34 VSX1 NM_014588.5(VSX1):c.*744C>ASNV Likely benign 337946 rs139744143 20:25056153-25056153 20:25075517-25075517
35 VSX1 NM_014588.5(VSX1):c.452A>G (p.Asn151Ser)SNV Likely benign 337964 rs201716527 20:25060123-25060123 20:25079487-25079487
36 VSX1 NM_014588.5(VSX1):c.*496A>GSNV Likely benign 337948 rs76499395 20:25056401-25056401 20:25075765-25075765
37 VSX1 NM_014588.5(VSX1):c.-197G>ASNV Likely benign 337974 rs116022495 20:25062929-25062929 20:25082293-25082293
38 VSX1 NM_014588.5(VSX1):c.174G>T (p.Pro58=)SNV Likely benign 337969 rs141241716 20:25062559-25062559 20:25081923-25081923
39 VSX1 NM_014588.5(VSX1):c.479G>T (p.Gly160Val)SNV Benign/Likely benign 337962 rs74315433 20:25060096-25060096 20:25079460-25079460
40 VSX1 NM_014588.5(VSX1):c.339C>T (p.Gly113=)SNV Benign/Likely benign 337966 rs6037016 20:25062394-25062394 20:25081758-25081758
41 VSX1 NM_014588.5(VSX1):c.432C>G (p.Asp144Glu)SNV Benign/Likely benign 100939 rs140122268 20:25060143-25060143 20:25079507-25079507
42 VSX1 NM_014588.5(VSX1):c.528G>A (p.Leu176=)SNV Benign/Likely benign 337960 rs143099682 20:25059564-25059564 20:25078928-25078928
43 VSX1 NM_014588.5(VSX1):c.546A>G (p.Ala182=)SNV Benign 100940 rs12480307 20:25059546-25059546 20:25078910-25078910
44 VSX1 NM_014588.5(VSX1):c.18G>T (p.Ser6=)SNV Benign 260423 rs8123716 20:25062715-25062715 20:25082079-25082079
45 VSX1 NM_014588.5(VSX1):c.809-16dupduplication Benign 337957 rs11427085 20:25057191-25057192 20:25076555-25076556
46 VSX1 NM_014588.5(VSX1):c.391C>A (p.Arg131Ser)SNV Benign 337965 rs6050307 20:25062342-25062342 20:25081706-25081706
47 VSX1 NM_001256271.1(VSX1):c.627+3021deldeletion Benign 337949 rs11478193 20:25056444-25056444 20:25075808-25075808
48 VSX1 NM_199425.2(VSX1):c.-271_-267GTGGG[2]short repeat Benign 337978 rs144366921 20:25062984-25062993 20:25082348-25082357
49 VSX1 NM_014588.5(VSX1):c.315C>A (p.Asp105Glu)SNV Benign 337967 rs6115023 20:25062418-25062418 20:25081782-25081782

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:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.56 TGFBI COL8A2 COL8A1 COL4A3
2 collagen trimer GO:0005581 9.33 COL8A2 COL8A1 COL4A3
3 extracellular matrix GO:0031012 9.26 TGFBI COL8A2 COL8A1 COL4A3
4 basement membrane GO:0005604 8.92 TGFBI COL8A2 COL8A1 COL4A3

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.65 TGFBI GRHL2 COL8A2 COL8A1 COL4A3
2 camera-type eye morphogenesis GO:0048593 9.32 COL8A2 COL8A1
3 angiogenesis GO:0001525 9.26 TGFBI OVOL2 COL8A2 COL8A1
4 epithelial cell proliferation GO:0050673 9.16 COL8A2 COL8A1
5 extracellular matrix organization GO:0030198 8.92 TGFBI COL8A2 COL8A1 COL4A3

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL8A2 COL8A1 COL4A3
2 extracellular matrix structural constituent GO:0005201 8.92 TGFBI COL8A2 COL8A1 COL4A3

Sources for Corneal Dystrophy, Posterior Polymorphous, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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