CTRCT2
MCID: CTR102
MIFTS: 29

Cataract 2, Multiple Types (CTRCT2)

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

Aliases & Classifications for Cataract 2, Multiple Types

MalaCards integrated aliases for Cataract 2, Multiple Types:

Name: Cataract 2, Multiple Types 58 76 13
Cataract, Coppock-Like 58 30 6 74
Ctrct2 58 12 76
Cataract 2, Multiple Types, with or Without Microcornea 58 76
Ccl 58 76
Cataract 2 Multiple Types with or Without Microcornea 12
Cataract, Variable Zonular Pulverulent 74
Variable Zonular Pulverulent Cataract 76
Cataract, Coppock-Like; Ccl 58
Cataract Embryonic Nuclear 76
Cataract 2 Multiple Types 12
Cataract Coppock-Like 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cataract 2, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110235
OMIM 58 604307
MeSH 45 D002386
ICD10 34 Q12.0
MedGen 43 C1852438

Summaries for Cataract 2, Multiple Types

UniProtKB/Swiss-Prot : 76 Cataract 2, 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. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

MalaCards based summary : Cataract 2, Multiple Types, also known as cataract, coppock-like, is related to cataract 30, multiple types and cataract 30. An important gene associated with Cataract 2, Multiple Types is CRYGC (Crystallin Gamma C). Affiliated tissues include eye, and related phenotypes are photophobia and microcornea

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33.

OMIM : 58 Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea. Before it was known that mutations in the CRYGC gene cause several types of cataract, this entry was titled 'Cataract, Coppock-like,' with the symbol CCL. (604307)

Related Diseases for Cataract 2, 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 2, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 cataract 30, multiple types 11.5
2 cataract 30 11.5
3 cataract 10.4
4 liver cirrhosis 10.2
5 prostate cancer 10.0
6 prostate cancer, hereditary, 8 10.0
7 prostate cancer, hereditary, 6 10.0
8 hepatitis 10.0
9 multiple sclerosis 9.9
10 systemic lupus erythematosus 9.9
11 myelopathy, htlv-1-associated 9.9
12 rheumatoid arthritis 9.9
13 asthma 9.9
14 blood group--swann system 9.9
15 dermatitis, atopic 9.9
16 salla disease 9.9
17 infantile liver failure syndrome 1 9.9
18 acute liver failure 9.9
19 adult t-cell leukemia 9.9
20 arthritis 9.9
21 keratoconus 9.9
22 leukemia 9.9
23 liver disease 9.9
24 nonalcoholic fatty liver disease 9.9
25 filariasis 9.9
26 dermatitis 9.9
27 iga glomerulonephritis 9.9
28 tropical spastic paraparesis 9.9
29 kidney disease 9.9
30 t-cell leukemia 9.9
31 retinal degeneration 9.9
32 lupus erythematosus 9.9
33 fatty liver disease 9.9
34 acanthocheilonemiasis 9.9
35 allergic encephalomyelitis 9.9
36 cytokine deficiency 9.9
37 htlv-1 associated myelopathy/tropical spastic paraparesis 9.9
38 spastic paraparesis 9.9

Graphical network of the top 20 diseases related to Cataract 2, Multiple Types:



Diseases related to Cataract 2, Multiple Types

Symptoms & Phenotypes for Cataract 2, Multiple Types

Human phenotypes related to Cataract 2, Multiple Types:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 photophobia 33 occasional (7.5%) HP:0000613
2 microcornea 33 occasional (7.5%) HP:0000482
3 nystagmus 33 HP:0000639
4 amblyopia 33 HP:0000646
5 nuclear cataract 33 HP:0100018
6 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
amblyopia
microcornea (in some patients)
decreased visual acuity
photophobia (rare)
more

Clinical features from OMIM:

604307

Drugs & Therapeutics for Cataract 2, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 2, Multiple Types

Genetic Tests for Cataract 2, Multiple Types

Genetic tests related to Cataract 2, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract, Coppock-Like 30 CRYGC

Anatomical Context for Cataract 2, Multiple Types

MalaCards organs/tissues related to Cataract 2, Multiple Types:

42
Eye

Publications for Cataract 2, Multiple Types

Articles related to Cataract 2, Multiple Types:

# Title Authors Year
1
A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. ( 10914683 )
2000

Variations for Cataract 2, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Cataract 2, Multiple Types:

76
# Symbol AA change Variation ID SNP ID
1 CRYGC p.Thr5Pro VAR_021142 rs104893618
2 CRYGC p.Gly129Cys VAR_067212 rs137853924

ClinVar genetic disease variations for Cataract 2, Multiple Types:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYGC CRYGC, 5-BP DUP, NT226 duplication Pathogenic
2 CRYGC NM_020989.3(CRYGC): c.502C> T (p.Arg168Trp) single nucleotide variant Uncertain significance rs28931604 GRCh37 Chromosome 2, 208992950: 208992950
3 CRYGC NM_020989.3(CRYGC): c.502C> T (p.Arg168Trp) single nucleotide variant Uncertain significance rs28931604 GRCh38 Chromosome 2, 208128226: 208128226
4 CRYGC NM_020989.3(CRYGC): c.470G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs398122392 GRCh37 Chromosome 2, 208992982: 208992982
5 CRYGC NM_020989.3(CRYGC): c.470G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs398122392 GRCh38 Chromosome 2, 208128258: 208128258
6 CRYGC NM_020989.3(CRYGC): c.471G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs398122944 GRCh37 Chromosome 2, 208992981: 208992981
7 CRYGC NM_020989.3(CRYGC): c.471G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs398122944 GRCh38 Chromosome 2, 208128257: 208128257
8 CRYGC NM_020989.3(CRYGC): c.385G> T (p.Gly129Cys) single nucleotide variant Pathogenic rs137853924 GRCh37 Chromosome 2, 208993067: 208993067
9 CRYGC NM_020989.3(CRYGC): c.385G> T (p.Gly129Cys) single nucleotide variant Pathogenic rs137853924 GRCh38 Chromosome 2, 208128343: 208128343
10 CRYGC NM_020989.3(CRYGC): c.497C> T (p.Ser166Phe) single nucleotide variant Pathogenic rs587778872 GRCh37 Chromosome 2, 208992955: 208992955
11 CRYGC NM_020989.3(CRYGC): c.497C> T (p.Ser166Phe) single nucleotide variant Pathogenic rs587778872 GRCh38 Chromosome 2, 208128231: 208128231
12 CRYGC NM_020989.3(CRYGC): c.123C> T (p.Gly41=) single nucleotide variant Benign rs115828074 GRCh37 Chromosome 2, 208994294: 208994294
13 CRYGC NM_020989.3(CRYGC): c.123C> T (p.Gly41=) single nucleotide variant Benign rs115828074 GRCh38 Chromosome 2, 208129570: 208129570
14 CRYGC NM_020989.3(CRYGC): c.357C> T (p.Ser119=) single nucleotide variant Benign rs61736036 GRCh38 Chromosome 2, 208128371: 208128371
15 CRYGC NM_020989.3(CRYGC): c.357C> T (p.Ser119=) single nucleotide variant Benign rs61736036 GRCh37 Chromosome 2, 208993095: 208993095
16 CRYGC NM_020989.3(CRYGC): c.256G> T (p.Val86Phe) single nucleotide variant Likely benign rs150910237 GRCh38 Chromosome 2, 208128472: 208128472
17 CRYGC NM_020989.3(CRYGC): c.256G> T (p.Val86Phe) single nucleotide variant Likely benign rs150910237 GRCh37 Chromosome 2, 208993196: 208993196
18 CRYGC NM_020989.3(CRYGC): c.155A> C (p.Gln52Pro) single nucleotide variant Uncertain significance rs1553585708 GRCh38 Chromosome 2, 208129538: 208129538
19 CRYGC NM_020989.3(CRYGC): c.155A> C (p.Gln52Pro) single nucleotide variant Uncertain significance rs1553585708 GRCh37 Chromosome 2, 208994262: 208994262
20 CRYGC NM_020989.3(CRYGC): c.10-10T> C single nucleotide variant Benign rs199901300 GRCh38 Chromosome 2, 208129693: 208129693
21 CRYGC NM_020989.3(CRYGC): c.10-10T> C single nucleotide variant Benign rs199901300 GRCh37 Chromosome 2, 208994417: 208994417
22 CRYGC NM_020989.3(CRYGC): c.280G> A (p.Glu94Lys) single nucleotide variant Uncertain significance rs200572745 GRCh38 Chromosome 2, 208128448: 208128448
23 CRYGC NM_020989.3(CRYGC): c.280G> A (p.Glu94Lys) single nucleotide variant Uncertain significance rs200572745 GRCh37 Chromosome 2, 208993172: 208993172
24 CRYGC NM_020989.3(CRYGC): c.423dup (p.Arg142Alafs) duplication Pathogenic rs1553585262 GRCh37 Chromosome 2, 208993029: 208993029
25 CRYGC NM_020989.3(CRYGC): c.423dup (p.Arg142Alafs) duplication Pathogenic rs1553585262 GRCh38 Chromosome 2, 208128305: 208128305

Expression for Cataract 2, Multiple Types

Search GEO for disease gene expression data for Cataract 2, Multiple Types.

Pathways for Cataract 2, Multiple Types

GO Terms for Cataract 2, Multiple Types

Sources for Cataract 2, 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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