CTRCT6
MCID: CTR096
MIFTS: 33

Cataract 6, Multiple Types (CTRCT6)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cataract 6, Multiple Types

MalaCards integrated aliases for Cataract 6, Multiple Types:

Name: Cataract 6, Multiple Types 58 76 30 13 6
Ctpp1 58 12 54 76
Cataract, Posterior Polar, 1 58 54 74
Ctrct6 58 12 76
Arcc2 58 12 76
Cataract, Age-Related Cortical, 2 58 74
Cataract 6 Multiple Types 12 15
Ctpa 54 76
Ctpp 54 76
Cataract, Age-Related Cortical, 2; Arcc2 58
Cataract, Posterior Polar, 1; Ctpp1 58
Age Related Cortical Cataract 2 12
Age-Related Cortical Cataract 2 76
Posterior Polar Cataract, 1 54
Posterior Polar Cataract 1 12
Cataract Posterior Polar 1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cataract 6, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110229
OMIM 58 116600
MeSH 45 D002386
ICD10 34 Q12.0
MedGen 43 C1861825

Summaries for Cataract 6, Multiple Types

UniProtKB/Swiss-Prot : 76 Cataract 6, multiple types: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT6 includes posterior polar and age-related cortical cataracts, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Age-related cortical cataract is a developmental punctate opacity restricted to the cortex. The cataract is white or cerulean, increases in number with age, but rarely affects vision.

MalaCards based summary : Cataract 6, Multiple Types, also known as ctpp1, is related to cataract and pulmonary embolism. An important gene associated with Cataract 6, Multiple Types is EPHA2 (EPH Receptor A2). Affiliated tissues include eye, cortex and lung, and related phenotypes are posterior polar cataract and myopia

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the EPHA2 gene on chromosome 1p36.

OMIM : 58 Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior polar, congenital total, complete, and age-related cortical. The preferred title/symbol of this entry was formerly 'Cataract, posterior polar, 1; CTPP1,' and 'Cataract, Age-Related Cortical, 2; ARCC2' was formerly a distinct entry. (116600)

Related Diseases for Cataract 6, Multiple Types

Diseases in the Cataract family:

Cataract 32, Multiple Types Cataract 7
Cataract 8, Multiple Types Cataract 4, Multiple Types
Cataract 29 Cataract 42
Cataract 20, Multiple Types Cataract 1, Multiple Types
Cataract 30, Multiple Types Cataract 41
Cataract 6, Multiple Types Cataract 5, Multiple Types
Cataract 46, Juvenile-Onset Cataract 40
Cataract 10, Multiple Types Cataract 24
Cataract 3, Multiple Types Cataract 14, Multiple Types
Cataract 9, Multiple Types Cataract 2, Multiple Types
Cataract 31, Multiple Types Cataract 25
Cataract 26, Multiple Types Cataract 27
Cataract 28 Cataract 35
Cataract 22, Multiple Types Cataract 18
Cataract 21, Multiple Types Cataract 23, Multiple Types
Cataract 11, Multiple Types Cataract 33, Multiple Types
Cataract 17, Multiple Types Cataract 12, Multiple Types
Cataract 47 Cataract 34, Multiple Types
Cataract 16, Multiple Types Cataract 36
Cataract 37 Cataract 38
Cataract 39, Multiple Types Cataract 15, Multiple Types
Cataract 19, Multiple Types Cataract 43
Cataract 44 Cataract 45
Cataract 48 Cataract 30
Cataract 33 Cataract Congenital Autosomal Dominant
Cataract, Total Congenital

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

# Related Disease Score Top Affiliating Genes
1 cataract 11.3
2 pulmonary embolism 10.5
3 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 10.2
4 pulmonary hypertension 10.2
5 patent foramen ovale 10.2
6 chronic thromboembolic pulmonary hypertension 10.2
7 severe combined immunodeficiency 10.1
8 combined t cell and b cell immunodeficiency 10.1
9 tricuspid atresia 10.0
10 lung disease 10.0

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



Diseases related to Cataract 6, Multiple Types

Symptoms & Phenotypes for Cataract 6, Multiple Types

Human phenotypes related to Cataract 6, Multiple Types:

33
# Description HPO Frequency HPO Source Accession
1 posterior polar cataract 33 very rare (1%) HP:0001115
2 myopia 33 HP:0000545
3 choroideremia 33 HP:0001139
4 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Eyes:
myopia
choroideremia
congenital cataract
posterior polar cataract
total cataract

Clinical features from OMIM:

116600

MGI Mouse Phenotypes related to Cataract 6, Multiple Types:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 EPHA2 LDHA

Drugs & Therapeutics for Cataract 6, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 6, Multiple Types

Genetic Tests for Cataract 6, Multiple Types

Genetic tests related to Cataract 6, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract 6, Multiple Types 30 EPHA2

Anatomical Context for Cataract 6, Multiple Types

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

42
Eye, Cortex, Lung, T Cells, B Cells

Publications for Cataract 6, Multiple Types

Articles related to Cataract 6, Multiple Types:

# Title Authors Year
1
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. ( 19306328 )
2009
2
The EPHA2 gene is associated with cataracts linked to chromosome 1p. ( 19005574 )
2008
3
EphrinA1 repulsive response is regulated by an EphA2 tyrosine phosphatase. ( 16051609 )
2005
4
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes. ( 15965161 )
2005
5
Regulation of the EphA2 kinase by the low molecular weight tyrosine phosphatase induces transformation. ( 12167657 )
2002
6
A locus for autosomal dominant posterior polar cataract on chromosome 1p. ( 9002669 )
1997

Variations for Cataract 6, Multiple Types

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

76
# Symbol AA change Variation ID SNP ID
1 EPHA2 p.Thr940Ile VAR_058907 rs137853200
2 EPHA2 p.Gly948Trp VAR_058908 rs137853199
3 EPHA2 p.Arg721Gln VAR_062532 rs116506614

ClinVar genetic disease variations for Cataract 6, Multiple Types:

6 (show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 EPHA2 NM_004431.4(EPHA2): c.2842G> T (p.Gly948Trp) single nucleotide variant Pathogenic rs137853199 GRCh37 Chromosome 1, 16451799: 16451799
2 EPHA2 NM_004431.4(EPHA2): c.2842G> T (p.Gly948Trp) single nucleotide variant Pathogenic rs137853199 GRCh38 Chromosome 1, 16125304: 16125304
3 EPHA2 NM_004431.4(EPHA2): c.2819C> T (p.Thr940Ile) single nucleotide variant Pathogenic rs137853200 GRCh37 Chromosome 1, 16455935: 16455935
4 EPHA2 NM_004431.4(EPHA2): c.2819C> T (p.Thr940Ile) single nucleotide variant Pathogenic rs137853200 GRCh38 Chromosome 1, 16129440: 16129440
5 EPHA2 EPHA2, 2-BP DEL, 2915TG deletion Pathogenic
6 EPHA2 EPHA2, IVS16, G-A, -9 single nucleotide variant Pathogenic
7 EPHA2 NM_004431.4(EPHA2): c.2627G> A (p.Arg876His) single nucleotide variant Benign/Likely benign rs35903225 GRCh37 Chromosome 1, 16456763: 16456763
8 EPHA2 NM_004431.4(EPHA2): c.2627G> A (p.Arg876His) single nucleotide variant Benign/Likely benign rs35903225 GRCh38 Chromosome 1, 16130268: 16130268
9 EPHA2 NM_004431.4(EPHA2): c.1171G> A (p.Gly391Arg) single nucleotide variant Benign rs34192549 GRCh37 Chromosome 1, 16464489: 16464489
10 EPHA2 NM_004431.4(EPHA2): c.1171G> A (p.Gly391Arg) single nucleotide variant Benign rs34192549 GRCh38 Chromosome 1, 16137994: 16137994
11 EPHA2 NM_004431.4(EPHA2): c.648C> T (p.Ala216=) single nucleotide variant Benign rs34753465 GRCh37 Chromosome 1, 16475048: 16475048
12 EPHA2 NM_004431.4(EPHA2): c.648C> T (p.Ala216=) single nucleotide variant Benign rs34753465 GRCh38 Chromosome 1, 16148553: 16148553
13 EPHA2 NM_004431.4(EPHA2): c.86-9C> T single nucleotide variant Benign/Likely benign rs138164293 GRCh37 Chromosome 1, 16477467: 16477467
14 EPHA2 NM_004431.4(EPHA2): c.86-9C> T single nucleotide variant Benign/Likely benign rs138164293 GRCh38 Chromosome 1, 16150972: 16150972
15 EPHA2 NM_004431.3(EPHA2): c.2826-9G> A single nucleotide variant Pathogenic rs886041412 GRCh38 Chromosome 1, 16125329: 16125329
16 EPHA2 NM_004431.3(EPHA2): c.2826-9G> A single nucleotide variant Pathogenic rs886041412 GRCh37 Chromosome 1, 16451824: 16451824
17 EPHA2 NM_004431.4(EPHA2): c.2374C> A (p.Arg792=) single nucleotide variant Benign/Likely benign rs55869078 GRCh38 Chromosome 1, 16131822: 16131822
18 EPHA2 NM_004431.4(EPHA2): c.2374C> A (p.Arg792=) single nucleotide variant Benign/Likely benign rs55869078 GRCh37 Chromosome 1, 16458317: 16458317
19 EPHA2 NM_004431.4(EPHA2): c.1941G> T (p.Thr647=) single nucleotide variant Benign/Likely benign rs56043737 GRCh38 Chromosome 1, 16133292: 16133292
20 EPHA2 NM_004431.4(EPHA2): c.1941G> T (p.Thr647=) single nucleotide variant Benign/Likely benign rs56043737 GRCh37 Chromosome 1, 16459787: 16459787
21 EPHA2 NM_004431.4(EPHA2): c.1896G> A (p.Leu632=) single nucleotide variant Benign/Likely benign rs55655135 GRCh38 Chromosome 1, 16133337: 16133337
22 EPHA2 NM_004431.4(EPHA2): c.1896G> A (p.Leu632=) single nucleotide variant Benign/Likely benign rs55655135 GRCh37 Chromosome 1, 16459832: 16459832
23 EPHA2 NM_004431.4(EPHA2): c.1512G> T (p.Leu504=) single nucleotide variant Benign rs35676629 GRCh38 Chromosome 1, 16135106: 16135106
24 EPHA2 NM_004431.4(EPHA2): c.1512G> T (p.Leu504=) single nucleotide variant Benign rs35676629 GRCh37 Chromosome 1, 16461601: 16461601
25 EPHA2 NM_004431.4(EPHA2): c.121C> G (p.Leu41Val) single nucleotide variant Benign/Likely benign rs147977279 GRCh38 Chromosome 1, 16150928: 16150928
26 EPHA2 NM_004431.4(EPHA2): c.121C> G (p.Leu41Val) single nucleotide variant Benign/Likely benign rs147977279 GRCh37 Chromosome 1, 16477423: 16477423
27 EPHA2 NM_004431.4(EPHA2): c.2034A> G (p.Leu678=) single nucleotide variant Benign rs2230598 GRCh38 Chromosome 1, 16133199: 16133199
28 EPHA2 NM_004431.4(EPHA2): c.2034A> G (p.Leu678=) single nucleotide variant Benign rs2230598 GRCh37 Chromosome 1, 16459694: 16459694
29 EPHA2 NM_004431.4(EPHA2): c.1532C> T (p.Thr511Met) single nucleotide variant Benign/Likely benign rs55747232 GRCh38 Chromosome 1, 16135086: 16135086
30 EPHA2 NM_004431.4(EPHA2): c.1532C> T (p.Thr511Met) single nucleotide variant Benign/Likely benign rs55747232 GRCh37 Chromosome 1, 16461581: 16461581
31 EPHA2 NM_004431.4(EPHA2): c.1359C> T (p.Ser453=) single nucleotide variant Benign/Likely benign rs55740291 GRCh38 Chromosome 1, 16135724: 16135724
32 EPHA2 NM_004431.4(EPHA2): c.1359C> T (p.Ser453=) single nucleotide variant Benign/Likely benign rs55740291 GRCh37 Chromosome 1, 16462219: 16462219
33 EPHA2 NM_004431.4(EPHA2): c.1170C> T (p.His390=) single nucleotide variant Benign/Likely benign rs113173342 GRCh38 Chromosome 1, 16137995: 16137995
34 EPHA2 NM_004431.4(EPHA2): c.1170C> T (p.His390=) single nucleotide variant Benign/Likely benign rs113173342 GRCh37 Chromosome 1, 16464490: 16464490
35 EPHA2 NM_004431.4(EPHA2): c.2904G> C (p.Gln968His) single nucleotide variant Conflicting interpretations of pathogenicity rs138818894 GRCh38 Chromosome 1, 16125242: 16125242
36 EPHA2 NM_004431.4(EPHA2): c.2904G> C (p.Gln968His) single nucleotide variant Conflicting interpretations of pathogenicity rs138818894 GRCh37 Chromosome 1, 16451737: 16451737
37 EPHA2 NM_004431.4(EPHA2): c.1621G> A (p.Val541Met) single nucleotide variant Benign/Likely benign rs61731097 GRCh37 Chromosome 1, 16461024: 16461024
38 EPHA2 NM_004431.4(EPHA2): c.1621G> A (p.Val541Met) single nucleotide variant Benign/Likely benign rs61731097 GRCh38 Chromosome 1, 16134529: 16134529
39 EPHA2 NM_004431.4(EPHA2): c.2514A> G (p.Thr838=) single nucleotide variant Benign rs35586310 GRCh38 Chromosome 1, 16130381: 16130381
40 EPHA2 NM_004431.4(EPHA2): c.2514A> G (p.Thr838=) single nucleotide variant Benign rs35586310 GRCh37 Chromosome 1, 16456876: 16456876
41 EPHA2 NM_004431.4(EPHA2): c.606C> T (p.Pro202=) single nucleotide variant Likely benign rs201175373 GRCh38 Chromosome 1, 16148595: 16148595
42 EPHA2 NM_004431.4(EPHA2): c.606C> T (p.Pro202=) single nucleotide variant Likely benign rs201175373 GRCh37 Chromosome 1, 16475090: 16475090
43 EPHA2 NM_004431.4(EPHA2): c.1892T> C (p.Met631Thr) single nucleotide variant Benign rs34021505 GRCh38 Chromosome 1, 16133341: 16133341
44 EPHA2 NM_004431.4(EPHA2): c.1892T> C (p.Met631Thr) single nucleotide variant Benign rs34021505 GRCh37 Chromosome 1, 16459836: 16459836
45 EPHA2 NM_004431.4(EPHA2): c.1118C> T (p.Ser373Phe) single nucleotide variant Uncertain significance rs758978165 GRCh37 Chromosome 1, 16464542: 16464542
46 EPHA2 NM_004431.4(EPHA2): c.1118C> T (p.Ser373Phe) single nucleotide variant Uncertain significance rs758978165 GRCh38 Chromosome 1, 16138047: 16138047
47 EPHA2 NM_004431.4(EPHA2): c.681C> T (p.Ala227=) single nucleotide variant Likely benign rs770700471 GRCh37 Chromosome 1, 16475015: 16475015
48 EPHA2 NM_004431.4(EPHA2): c.681C> T (p.Ala227=) single nucleotide variant Likely benign rs770700471 GRCh38 Chromosome 1, 16148520: 16148520
49 EPHA2 NM_004431.4(EPHA2): c.2116-9C> T single nucleotide variant Likely benign rs753038083 GRCh38 Chromosome 1, 16132282: 16132282
50 EPHA2 NM_004431.4(EPHA2): c.2116-9C> T single nucleotide variant Likely benign rs753038083 GRCh37 Chromosome 1, 16458777: 16458777

Expression for Cataract 6, Multiple Types

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

Pathways for Cataract 6, Multiple Types

GO Terms for Cataract 6, Multiple Types

Molecular functions related to Cataract 6, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 8.62 EPHA2 LDHA

Sources for Cataract 6, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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