MCID: ERL044
MIFTS: 22

Early-Onset Posterior Polar Cataract

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

Aliases & Classifications for Early-Onset Posterior Polar Cataract

MalaCards integrated aliases for Early-Onset Posterior Polar Cataract:

Name: Early-Onset Posterior Polar Cataract 58

Characteristics:

Orphanet epidemiological data:

58
early-onset posterior polar cataract
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q12.0
UMLS via Orphanet 72 C0858617
Orphanet 58 ORPHA98993

Summaries for Early-Onset Posterior Polar Cataract

MalaCards based summary : Early-Onset Posterior Polar Cataract is related to cataract 32, multiple types and early-onset posterior subcapsular cataract. An important gene associated with Early-Onset Posterior Polar Cataract is CRYAB (Crystallin Alpha B). Affiliated tissues include eye, and related phenotype is vision/eye.

Related Diseases for Early-Onset Posterior Polar Cataract

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



Diseases related to Early-Onset Posterior Polar Cataract

Symptoms & Phenotypes for Early-Onset Posterior Polar Cataract

MGI Mouse Phenotypes related to Early-Onset Posterior Polar Cataract:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 CRYAB CRYBA1 EPHA2 GJA3 MIP PITX3

Drugs & Therapeutics for Early-Onset Posterior Polar Cataract

Search Clinical Trials , NIH Clinical Center for Early-Onset Posterior Polar Cataract

Genetic Tests for Early-Onset Posterior Polar Cataract

Anatomical Context for Early-Onset Posterior Polar Cataract

MalaCards organs/tissues related to Early-Onset Posterior Polar Cataract:

40
Eye

Publications for Early-Onset Posterior Polar Cataract

Articles related to Early-Onset Posterior Polar Cataract:

# Title Authors PMID Year
1
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. 6
19461931 2009
2
Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. 6
16877416 2006
3
A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. 6
16505043 2006
4
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. 6
11577372 2001

Variations for Early-Onset Posterior Polar Cataract

ClinVar genetic disease variations for Early-Onset Posterior Polar Cataract:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRYAB NM_001289808.2(CRYAB):c.450del (p.Lys150fs) Deletion Pathogenic 16954 rs1566402656 11:111779566-111779566 11:111908842-111908842
2 CRYAB NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn) SNV Pathogenic 41927 rs387907336 11:111779598-111779598 11:111908874-111908874
3 CRYAB NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser) SNV Pathogenic 41928 rs387907337 11:111782391-111782391 11:111911667-111911667
4 CRYAB NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp) SNV Pathogenic 41929 rs387907338 11:111782283-111782283 11:111911559-111911559
5 CRYAB NM_001289808.2(CRYAB):c.375A>C (p.Pro125=) SNV Uncertain significance 302431 rs886047687 11:111779641-111779641 11:111908917-111908917
6 CRYAB NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp) SNV Uncertain significance 302432 rs886047688 11:111782347-111782347 11:111911623-111911623
7 CRYAB NM_001289808.2(CRYAB):c.*107A>G SNV Uncertain significance 302428 rs886047686 11:111779381-111779381 11:111908657-111908657
8 CRYAB NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala) SNV Uncertain significance 571646 rs145768025 11:111782334-111782334 11:111911610-111911610
9 CRYAB NM_001289808.2(CRYAB):c.*60G>A SNV Uncertain significance 877466 11:111779428-111779428 11:111908704-111908704
10 CRYAB NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr) SNV Uncertain significance 810752 rs1592506005 11:111779534-111779534 11:111908810-111908810
11 CRYAB NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn) SNV Uncertain significance 879070 11:111782273-111782273 11:111911549-111911549
12 CRYAB NM_001289808.2(CRYAB):c.10G>A (p.Ala4Thr) SNV Uncertain significance 931448 11:111782439-111782439 11:111911715-111911715
13 CRYAB NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) SNV Likely benign 41926 rs150516929 11:111779556-111779556 11:111908832-111908832
14 CRYAB NM_001289808.2(CRYAB):c.-21C>T SNV Likely benign 302433 rs376222434 11:111782469-111782469 11:111911745-111911745
15 CRYAB NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) SNV Benign 44239 rs4252582 11:111782389-111782389 11:111911665-111911665
16 CRYAB NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) SNV Benign 44233 rs2228387 11:111782284-111782284 11:111911560-111911560
17 CRYAB NM_001289808.2(CRYAB):c.*38G>C SNV Benign 302430 rs781853968 11:111779450-111779450 11:111908726-111908726
18 CRYAB NM_001289808.2(CRYAB):c.324+4T>G SNV Benign 44234 rs11603779 11:111781047-111781047 11:111910323-111910323
19 CRYAB NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) SNV Benign 178013 rs149787233 11:111782333-111782333 11:111911609-111911609
20 CRYAB NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) SNV Benign 44232 rs2234704 11:111782297-111782297 11:111911573-111911573

Expression for Early-Onset Posterior Polar Cataract

Search GEO for disease gene expression data for Early-Onset Posterior Polar Cataract.

Pathways for Early-Onset Posterior Polar Cataract

GO Terms for Early-Onset Posterior Polar Cataract

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

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.62 MIP GJA3

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.33 MIP GJA3 CRYBA1
2 negative regulation of protein kinase B signaling GO:0051898 9.32 EPHA2 CRYBA1
3 negative regulation of cytokine production GO:0001818 9.26 EPHA2 CRYBA1
4 gap junction-mediated intercellular transport GO:1990349 8.96 MIP GJA3
5 lens development in camera-type eye GO:0002088 8.92 PITX3 MIP CRYBA1 CRYAB

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 8.8 MIP CRYBA1 CRYAB

Sources for Early-Onset Posterior Polar Cataract

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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