MCID: CTR096
MIFTS: 30

Cataract 6, Multiple Types malady

Genetic diseases, Eye diseases, Fetal diseases, Rare diseases, Cancer diseases, Oral diseases categories
Download this MalaCard

Summaries for Cataract 6, Multiple Types

About this section


Fully expand this MalaCard
MalaCards based summary: Cataract 6, Multiple Types, also known as posterior subcapsular cataract, is related to posterior polar cataract and cataract, and has symptoms including An important gene associated with Cataract 6, Multiple Types is EPHA2 (EPH receptor A2), and among its related pathways is Clathrin derived vesicle budding. Affiliated tissues include eye, and related mouse phenotypes are skeleton and vision/eye.

Descriptions from OMIM:46 115650, 116600, 601885, 605387, 610623 612968, 613763 more

Aliases & Classifications for Cataract 6, Multiple Types

About this section
Sources:
48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet
See all sources

Cataract 6, Multiple Types, Aliases & Descriptions:

Name: Cataract 6, Multiple Types 46
Posterior Subcapsular Cataract 48 62
 
Posterior Polar Cataract 48 46


Classifications:



Characteristics (Orphanet epidemiological data):

48
posterior subcapsular cataract:
Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 Q12.0

Related Diseases for Cataract 6, Multiple Types

About this section

Diseases in the Cataract 4, Multiple Types family:

Cataract Cataract, Total Congenital
Cataract 8, Multiple Types cataract 6, multiple types
Cataract 34, Multiple Types Cataract 1, Multiple Types
Cataract 2, Multiple Types Cataract 42
Cataract 12, Multiple Types Cataract 20, Multiple Types
Cataract 41 Cataract 26, Multiple Types
Cataract 36 Cataract 11, Multiple Types
Cataract 16, Multiple Types Cataract 15, Multiple Types
Cataract 14, Multiple Types Cataract 32, Multiple Types
Cataract, Congenital Cataract 25
Cataract 5, Multiple Types Cataract 10, Multiple Types
Cataract 7 Cataract 19
Cataract 33 Cataract 31, Multiple Types
Cataract 9, Multiple Types Cataract 17, Multiple Types
Cataract 3, Multiple Types Cataract 23

Diseases related to Cataract 6, Multiple Types via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 23)
idRelated DiseaseScoreTop Affiliating Genes
1posterior polar cataract32.0PITX3
2cataract31.2CRYAB, GJA3, PITX3
3posterior polar cataract 210.5
4cataract, posterior polar, 410.4
5bronchopulmonary dysplasia10.3
6cystic fibrosis10.3
7allergic bronchopulmonary aspergillosis10.3
8monilethrix10.3
9aspergillosis10.3
10refractive error10.3
11senile cataract10.3
12degos disease10.3
13cataract 1, multiple types10.3
14retinitis pigmentosa autosomal recessive10.3
15retinitis pigmentosa10.2
16choroideremia10.2
17myopia10.2
18retinitis10.2
19dwarfism10.2
20cataract, posterior polar, 110.2
21parkinson's disease10.0PITX3, CRYAB
22glioblastoma multiforme9.9EPHA2, CRYAB
23cataract, congenital9.7CRYAB, GJA3, PITX3

Graphical network of the top 20 diseases related to Cataract 6, Multiple Types:



Diseases related to cataract 6, multiple types

Symptoms for Cataract 6, Multiple Types

About this section

Symptoms by clinical synopsis from OMIM:

116600

Clinical features from OMIM:

115650,116600,601885,605387,610623,612968,613763

HPO human phenotypes related to Cataract 6, Multiple Types:

(show all 6)
id Description Frequency HPO Source Accession
1 posterior polar cataract 12% HP:0001115
2 autosomal dominant inheritance HP:0000006
3 congenital cataract HP:0000519
4 myopia HP:0000545
5 choroideremia HP:0001139
6 total cataract HP:0010700

Drugs & Therapeutics for Cataract 6, Multiple Types

About this section

Drug clinical trials:

Search ClinicalTrials for Cataract 6, Multiple Types

Search NIH Clinical Center for Cataract 6, Multiple Types

Genetic Tests for Cataract 6, Multiple Types

About this section

Anatomical Context for Cataract 6, Multiple Types

About this section

MalaCards organs/tissues related to Cataract 6, Multiple Types:

32
Eye

Animal Models for Cataract 6, Multiple Types or affiliated genes

About this section

MGI Mouse Phenotypes related to Cataract 6, Multiple Types:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.9CRYAB, EPHA2, PITX3
2MP:00053918.1GJA3, CRYAB, EPHA2, PITX3

Publications for Cataract 6, Multiple Types

About this section

Variations for Cataract 6, Multiple Types

About this section

UniProtKB/Swiss-Prot genetic disease variations for Cataract 6, Multiple Types:

64
id Symbol AA change Variation ID SNP ID
1EPHA2p.Thr940IleVAR_058907
2EPHA2p.Gly948TrpVAR_058908
3EPHA2p.Arg721GlnVAR_062532rs116506614

Clinvar genetic disease variations for Cataract 6, Multiple Types:

6 (show all 19)
id Gene Name 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 Cataract 6, Multiple Types

About this section
Expression patterns in normal tissues for genes affiliated with Cataract 6, Multiple Types

Search GEO for disease gene expression data for Cataract 6, Multiple Types.

Pathways for genes affiliated with Cataract 6, Multiple Types

About this section

Pathways related to Cataract 6, Multiple Types according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1GJA3, CHMP4B

Compounds for genes affiliated with Cataract 6, Multiple Types

About this section

GO Terms for genes affiliated with Cataract 6, Multiple Types

About this section

Biological processes related to Cataract 6, Multiple Types according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lens development in camera-type eyeGO:0020889.3CRYAB, PITX3

Products for genes affiliated with Cataract 6, Multiple Types

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Cataract 6, Multiple Types

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet