MCID: CTR096
MIFTS: 32

Cataract 6, Multiple Types

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

Aliases & Classifications for Cataract 6, Multiple Types

MalaCards integrated aliases for Cataract 6, Multiple Types:

Name: Cataract 6, Multiple Types 53 71 28 13
Ctpp1 53 12 49 71
Cataract, Posterior Polar, 1 53 49 69
Ctrct6 53 12 71
Arcc2 53 12 71
Cataract, Age-Related Cortical, 2 53 69
Cataract 6 Multiple Types 12 14
Ctpa 49 71
Ctpp 49 71
Cataract, Age-Related Cortical, 2; Arcc2 53
Cataract, Posterior Polar, 1; Ctpp1 53
Age Related Cortical Cataract 2 12
Age-Related Cortical Cataract 2 71
Posterior Polar Cataract, 1 49
Posterior Polar Cataract 1 12
Cataract Posterior Polar 1 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
cataract 6, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 116600
Disease Ontology 12 DOID:0110229
ICD10 32 Q12.0
MedGen 39 C1861825
MeSH 41 D002386

Summaries for Cataract 6, Multiple Types

UniProtKB/Swiss-Prot : 71 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 combined immunodeficiency, x-linked, and has symptoms including myopia, choroideremia and congenital cataract. An important gene associated with Cataract 6, Multiple Types is EPHA2 (EPH Receptor A2). Affiliated tissues include eye and cortex, and related phenotype is neoplasm.

OMIM : 53 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)

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

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 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 11.1
2 combined immunodeficiency, x-linked 9.9
3 severe combined immunodeficiency 9.9
4 tricuspid atresia 9.9
5 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 9.9
6 pulmonary hypertension 9.9
7 pulmonary embolism 9.9
8 chronic thromboembolic pulmonary hypertension 9.9

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

Symptoms via clinical synopsis from OMIM:

53
Eyes:
posterior polar cataract
congenital cataract
total cataract
choroideremia
myopia


Clinical features from OMIM:

116600

Human phenotypes related to Cataract 6, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545
2 choroideremia 31 HP:0001139
3 congenital cataract 31 HP:0000519
4 posterior polar cataract 31 very rare (1%) HP:0001115
5 total cataract 31 HP:0010700

MGI Mouse Phenotypes related to Cataract 6, Multiple Types:

43
# 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 28 EPHA2

Anatomical Context for Cataract 6, Multiple Types

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

38
Eye, Cortex

Publications for Cataract 6, Multiple Types

Articles related to Cataract 6, Multiple Types:

# Title Authors Year
1
Automated Quantification of Pulmonary Perfused Blood Volume by Dual-Energy CTPA in Chronic Thromboembolic Pulmonary Hypertension. ( 23975878 )
2014
2
Effectiveness of automated quantification of pulmonary perfused blood volume using dual-energy CTPA for the severity assessment of acute pulmonary embolism. ( 23519007 )
2013
3
Misleading unilateral V/Q and CTPA abnormality following previous cardiac surgery for tricuspid atresia. ( 21295210 )
2011
4
The ctpA gene encodes the C-terminal processing protease for the D1 protein of the photosystem II reaction center complex. ( 8058761 )
1994

Variations for Cataract 6, Multiple Types

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

71
# 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
# 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.2819C> T (p.Thr940Ile) single nucleotide variant Pathogenic rs137853200 GRCh37 Chromosome 1, 16455935: 16455935
3 EPHA2 EPHA2, 2-BP DEL, 2915TG deletion Pathogenic
4 EPHA2 EPHA2, IVS16, G-A, -9 single nucleotide variant Pathogenic

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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