MCID: PST016
MIFTS: 30

Posterior Polar Cataract malady

Genetic diseases, Eye diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Posterior Polar Cataract

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Sources:
10Disease Ontology, 12DISEASES, 51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Posterior Polar Cataract:

Name: Posterior Polar Cataract 10 12 51
Posterior Subcapsular Cataract 51 65
 
Cataract, Posterior Polar 10


Classifications:



Characteristics (Orphanet epidemiological data):

51
posterior polar cataract:
Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology10 DOID:0050537
Orphanet51 98993
ICD10 via Orphanet28 Q12.0

Summaries for Posterior Polar Cataract

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MalaCards based summary: Posterior Polar Cataract, also known as posterior subcapsular cataract, is related to cataract and anterior segment mesenchymal dysgenesis. An important gene associated with Posterior Polar Cataract is CRYAB (Crystallin, Alpha B). Affiliated tissues include eye, and related mouse phenotype vision/eye.

Related Diseases for Posterior Polar Cataract

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Diseases in the Posterior Polar Cataract family:

Cataract 24, Anterior Polar Cataract Anterior Polar Dominant
Posterior Polar Cataract 2

Diseases related to Posterior Polar Cataract via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1cataract11.1
2anterior segment mesenchymal dysgenesis10.5
3cataract 11, multiple types10.5
4cataract 16, multiple types10.5
5posterior polar cataract 210.5
6cataract 6, multiple types10.4
7cataract 32, multiple types10.4
8ruijs-aalfs syndrome10.4
9cataract 1, multiple types10.3
10retinitis pigmentosa 5610.3
11myotonic dystrophy 210.3
12cystic fibrosis10.3
13cataract 26, multiple types10.3
14retinitis pigmentosa 6610.3
15gyrate atrophy of choroid and retina with or without ornithinemia10.3
16retinitis pigmentosa 7210.3
17aspergillosis10.3
18monilethrix10.3
19microcornea, myopic chorioretinal atrophy, and telecanthus10.3
20retinitis pigmentosa 2310.3
21bronchopulmonary dysplasia10.3
22allergic bronchopulmonary aspergillosis10.3
23refractive error10.3
24senile cataract10.3
25cataracts, ataxia, short stature, and mental retardation10.3
26degos disease10.3
27kyrle disease10.3
28retinitis pigmentosa autosomal recessive10.3
29retinitis pigmentosa 7410.2
30cataract 31, multiple types10.2
31choroideremia10.2
32primrose syndrome10.2
33dementia, familial danish10.2
34retinitis pigmentosa10.2
35myopia10.2
36retinitis10.2
37dwarfism10.2
38cataract with y-shaped suture opacities10.1CRYGD, GJA3
39corticosteroid-sensitive aseptic abscesses10.1CRYAB, PITX3
40sensory organ benign neoplasm10.0BFSP1, CRYAA
41cataract 2, multiple types9.9CRYBB2, CRYGD, GJA3
42epilepsy, progressive myoclonic 1a9.8CRYAA, CRYBB2, CRYGD
43central nervous system leukemia9.8CRYAA, MIP
44glomangioma9.8CRYAA, CRYGS
45cataract microphthalmia septal defect9.8CRYAA, CRYBB2, CRYGD
46anatomical narrow angle borderline glaucoma9.7CRYBA1, CRYGS, MIP
47nuclear cataract9.7CRYBA1, CRYBB2, MIP
48cervical hypertrichosis peripheral neuropathy9.7CRYBB2, CRYGD, MIP
49cataract, zonular9.6CRYBB2, CRYGS, EPHA2, MIP
50cataract-glaucoma9.6CRYAA, CRYAB, CRYBA1, CRYGD, MIP

Graphical network of the top 20 diseases related to Posterior Polar Cataract:



Diseases related to posterior polar cataract

Symptoms for Posterior Polar Cataract

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Drugs & Therapeutics for Posterior Polar Cataract

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Posterior Polar Cataract

Genetic Tests for Posterior Polar Cataract

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Anatomical Context for Posterior Polar Cataract

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MalaCards organs/tissues related to Posterior Polar Cataract:

33
Eye

Animal Models for Posterior Polar Cataract or affiliated genes

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MGI Mouse Phenotypes related to Posterior Polar Cataract:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053915.9BFSP1, CRYAA, CRYAB, CRYBA1, CRYBB2, CRYGD

Publications for Posterior Polar Cataract

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Articles related to Posterior Polar Cataract:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Femtosecond Laser-assisted Cataract Surgery Technique to Enhance Safety in Posterior Polar Cataract. (26334779)
2015
2
Anterior segment optical coherence tomography for demonstrating posterior capsular rent in posterior polar cataract. (24453477)
2014
3
A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family. (25195561)
2014
4
A nonsense mutation of I^D-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family. (24465161)
2014
5
Pre-surround division technique: precise cracks surrounding the posterior opacity prior to phacoemulsification in posterior polar cataract surgery. (25442881)
2014
6
Application of anterior segment optical coherence tomography to identify eyes with posterior polar cataract at high risk for posterior capsule rupture. (25465687)
2014
7
Posterior polar cataract: A review. (23960967)
2012
8
Phacoemulsification in eyes with posterior polar cataract. (22920002)
2012
9
Approaches to a posterior polar cataract. (23960968)
2012
10
A new locus in chromosome 2q37-qter is associated with posterior polar cataract. (21881846)
2012
11
Surgical approaches to posterior polar cataract: a review. (22441026)
2012
12
Oval capsulorhexis for phacoemulsification in posterior polar cataract with preexisting posterior capsule rupture. (21700098)
2011
13
The complications during phacoemulsification in patients with posterior polar cataract. (21853943)
2011
14
Modified technique for epinucleus removal in posterior polar cataract. (21053813)
2011
15
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract. (21633712)
2011
16
A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family. (21681855)
2011
17
A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. (20142846)
2010
18
Inverse horse-shoe technique for the phacoemulsification of posterior polar cataract. (20379301)
2010
19
Phacoemulsification in posterior polar cataract: does size of lens opacity affect surgical outcome? (20572822)
2010
20
Posterior polar cataract surgery: a posterior segment approach. (18989342)
2009
21
Modified epinucleus pre-chop for the dense posterior polar cataract. (18435348)
2008
22
Posterior polar cataract surgery - a posterior segment approach. (17332769)
2008
23
'Layer by layer' phacoemulsification in posterior polar cataract with pre-existing posterior capsular rent. (17417622)
2008
24
Surgical and visual outcomes for posterior polar cataract. (18728051)
2008
25
Managing the hard posterior polar cataract. (18361960)
2008
26
Bilateral spontaneous rupture of posterior capsule in posterior polar cataract. (19128390)
2008
27
Phacoemulsification with viscodissection in posterior polar cataract: minimizing risk of posterior capsule tear. (17984504)
2007
28
Posterior polar cataract: minimizing risk of posterior capsule rupture. (17304262)
2007
29
Spontaneous dislocation of posterior polar cataract. (17662445)
2007
30
Management of the hard posterior polar cataract. (17720063)
2007
31
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. (16565358)
2006
32
A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23. (17047090)
2006
33
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. (16877416)
2006
34
Posterior polar cataract: minimizing risk of posterior capsule rupture. (16254595)
2006
35
Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene. (15665340)
2005
36
Posterior polar cataract: genetic analysis of a large family. (16272057)
2005
37
The management of posterior polar cataract: the role of patching and grading. (16361185)
2005
38
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). (15286169)
2004
39
Outcomes of surgery for posterior polar cataract. (12551666)
2003
40
Theoretical considerations regarding the study "Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans". (12227334)
2002
41
Minimizing risk to the capsule during surgery for posterior polar cataract. (11978449)
2002
42
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. (11577372)
2001
43
An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12. (10909854)
2000
44
Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family. (10682967)
2000
45
A locus for autosomal dominant posterior polar cataract on chromosome 1p. (9002669)
1997
46
Hereditary posterior polar cataract. (13364188)
1956
47
A case of familial dwarfism, with choroideremia, myopia, posterior polar cataract, and zonular cataract. (13388265)
1956
48
Hereditary posterior polar cataract with report of a pedigree. (14389647)
1955
49
Cyst in the vitreous and posterior polar cataract in retinitis pigmentosa. (20281867)
1946
50
Hereditary Posterior Polar Cataract, with Report of a Pedigree. (16692353)
1915

Variations for Posterior Polar Cataract

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Clinvar genetic disease variations for Posterior Polar Cataract:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1CHMP4BNM_176812.4(CHMP4B): c.386A> T (p.Asp129Val)single nucleotide variantPathogenicrs118203965GRCh37Chr 20, 32438775: 32438775
2CHMP4BNM_176812.4(CHMP4B): c.481G> A (p.Glu161Lys)single nucleotide variantPathogenicrs118203966GRCh37Chr 20, 32438870: 32438870
3EPHA2NM_004431.3(EPHA2): c.2842G> T (p.Gly948Trp)single nucleotide variantPathogenicrs137853199GRCh37Chr 1, 16451799: 16451799
4EPHA2NM_004431.3(EPHA2): c.2819C> T (p.Thr940Ile)single nucleotide variantPathogenicrs137853200GRCh37Chr 1, 16455935: 16455935
5EPHA2EPHA2, 2-BP DEL, 2915TGdeletionPathogenic
6EPHA2EPHA2, IVS16, G-A, -9single nucleotide variantPathogenic
7CRYABCRYAB, 1-BP DEL, 450AdeletionPathogenic
8GJA3NM_021954.3(GJA3): c.188A> G (p.Asn63Ser)single nucleotide variantPathogenicrs121917823GRCh37Chr 13, 20717240: 20717240
9GJA3GJA3, 1-BP INS, 1137CinsertionPathogenic
10GJA3NM_021954.3(GJA3): c.560C> T (p.Pro187Leu)single nucleotide variantPathogenicrs121917825GRCh37Chr 13, 20716868: 20716868
11GJA3NM_021954.3(GJA3): c.227G> A (p.Arg76His)single nucleotide variantPathogenicrs121917827GRCh37Chr 13, 20717201: 20717201
12CRYABNM_001885.2(CRYAB): c.418G> A (p.Asp140Asn)single nucleotide variantPathogenicrs387907336GRCh37Chr 11, 111779598: 111779598
13CRYABNM_001885.2(CRYAB): c.58C> T (p.Pro20Ser)single nucleotide variantPathogenicrs387907337GRCh37Chr 11, 111782391: 111782391
14CRYABNM_001885.2(CRYAB): c.166C> T (p.Arg56Trp)single nucleotide variantPathogenicrs387907338GRCh37Chr 11, 111782283: 111782283
15GJA3NM_021954.3(GJA3): c.563A> C (p.Asn188Thr)single nucleotide variantPathogenicrs140332366GRCh37Chr 13, 20716865: 20716865
16GJA3NM_021954.3(GJA3): c.5G> A (p.Gly2Asp)single nucleotide variantPathogenicrs397514703GRCh37Chr 13, 20717423: 20717423
17GJA3NM_021954.3(GJA3): c.563A> T (p.Asn188Ile)single nucleotide variantPathogenicrs140332366GRCh37Chr 13, 20716865: 20716865
18GJA3NM_021954.3(GJA3): c.616T> A (p.Phe206Ile)single nucleotide variantPathogenicrs397514704GRCh37Chr 13, 20716812: 20716812
19GJA3NM_021954.3(GJA3): c.427G> A (p.Gly143Arg)single nucleotide variantPathogenicrs398122937GRCh37Chr 13, 20717001: 20717001

Expression for genes affiliated with Posterior Polar Cataract

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Search GEO for disease gene expression data for Posterior Polar Cataract.

Pathways for genes affiliated with Posterior Polar Cataract

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GO Terms for genes affiliated with Posterior Polar Cataract

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Cellular components related to Posterior Polar Cataract according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1gap junctionGO:00059219.6GJA3, MIP

Biological processes related to Posterior Polar Cataract according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1response to hydrogen peroxideGO:004254210.3CRYAB, GJA3
2lens fiber cell differentiationGO:007030610.2CRYGD, PITX3
3negative regulation of intracellular transportGO:003238710.1CRYAA, CRYAB
4camera-type eye developmentGO:00430109.6CRYAB, CRYBA1, CRYBB2
5protein homooligomerizationGO:00512609.5CHMP4B, CRYAA, CRYAB
6response to stimulusGO:00508969.0CRYAA, CRYBB2, MIP
7lens development in camera-type eyeGO:00020888.1CRYAB, CRYBA1, CRYGD, CRYGS, MIP, PITX3
8visual perceptionGO:00076017.7CRYAA, CRYBA1, CRYBB2, CRYGD, GJA3, MIP

Molecular functions related to Posterior Polar Cataract according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428028.7CHMP4B, CRYAA, CRYAB, CRYBB2, GJA3
2structural constituent of eye lensGO:00052126.9BFSP1, CRYAA, CRYAB, CRYBA1, CRYBB2, CRYGD

Sources for Posterior Polar Cataract

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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