MCID: CTR102
MIFTS: 28

Cataract 2, Multiple Types

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

Aliases & Classifications for Cataract 2, Multiple Types

MalaCards integrated aliases for Cataract 2, Multiple Types:

Name: Cataract 2, Multiple Types 57 75 13
Cataract, Coppock-Like 57 29 6 73
Ctrct2 57 12 75
Cataract 2, Multiple Types, with or Without Microcornea 57 75
Ccl 57 75
Cataract 2 Multiple Types with or Without Microcornea 12
Cataract, Variable Zonular Pulverulent 73
Variable Zonular Pulverulent Cataract 75
Cataract, Coppock-Like; Ccl 57
Cataract Embryonic Nuclear 75
Cataract 2 Multiple Types 12
Cataract Coppock-Like 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cataract 2, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 604307
Disease Ontology 12 DOID:0110235
ICD10 33 Q12.0
MedGen 42 C1852438
MeSH 44 D002386

Summaries for Cataract 2, Multiple Types

UniProtKB/Swiss-Prot : 75 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 microcornea and visual impairment

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

OMIM : 57 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 22)
# Related Disease Score Top Affiliating Genes
1 cataract 30, multiple types 11.3
2 cataract 30 11.3
3 cataract 10.2
4 hepatitis 10.1
5 prostate cancer 9.9
6 prostatitis 9.9
7 multiple sclerosis 9.8
8 systemic lupus erythematosus 9.8
9 myelopathy, htlv-1-associated 9.8
10 rheumatoid arthritis 9.8
11 aging 9.8
12 asthma 9.8
13 adult t-cell leukemia 9.8
14 arthritis 9.8
15 leukemia 9.8
16 liver cirrhosis 9.8
17 tropical spastic paraparesis 9.8
18 t-cell leukemia 9.8
19 lupus erythematosus 9.8
20 allergic encephalomyelitis 9.8
21 spastic paraparesis 9.8
22 spasticity 9.8

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract, congenital, multiple types
cataract, coppock-like
cataract, zonular pulverulent
cataract, nuclear
opacities in embryonic, fetal, and infantile nuclei
more

Clinical features from OMIM:

604307

Human phenotypes related to Cataract 2, Multiple Types:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 microcornea 32 occasional (7.5%) HP:0000482
2 visual impairment 32 HP:0000505
3 photophobia 32 occasional (7.5%) HP:0000613
4 nystagmus 32 HP:0000639
5 amblyopia 32 HP:0000646
6 congenital nuclear cataract 32 HP:0008024

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 29 CRYGC

Anatomical Context for Cataract 2, Multiple Types

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

41
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:

75
# 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 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYGC CRYGC, 5-BP DUP, NT226 duplication Pathogenic
2 CRYGC NM_020989.3(CRYGC): c.470G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs398122392 GRCh37 Chromosome 2, 208992982: 208992982
3 CRYGC NM_020989.3(CRYGC): c.470G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs398122392 GRCh38 Chromosome 2, 208128258: 208128258
4 CRYGC NM_020989.3(CRYGC): c.471G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs398122944 GRCh37 Chromosome 2, 208992981: 208992981
5 CRYGC NM_020989.3(CRYGC): c.471G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs398122944 GRCh38 Chromosome 2, 208128257: 208128257
6 CRYGC NM_020989.3(CRYGC): c.385G> T (p.Gly129Cys) single nucleotide variant Pathogenic rs137853924 GRCh37 Chromosome 2, 208993067: 208993067
7 CRYGC NM_020989.3(CRYGC): c.385G> T (p.Gly129Cys) single nucleotide variant Pathogenic rs137853924 GRCh38 Chromosome 2, 208128343: 208128343
8 CRYGC NM_020989.3(CRYGC): c.497C> T (p.Ser166Phe) single nucleotide variant Pathogenic rs587778872 GRCh37 Chromosome 2, 208992955: 208992955
9 CRYGC NM_020989.3(CRYGC): c.497C> T (p.Ser166Phe) single nucleotide variant Pathogenic rs587778872 GRCh38 Chromosome 2, 208128231: 208128231
10 CRYGC NM_020989.3(CRYGC): c.123C> T (p.Gly41=) single nucleotide variant Benign rs115828074 GRCh37 Chromosome 2, 208994294: 208994294
11 CRYGC NM_020989.3(CRYGC): c.123C> T (p.Gly41=) single nucleotide variant Benign rs115828074 GRCh38 Chromosome 2, 208129570: 208129570
12 CRYGC NM_020989.3(CRYGC): c.357C> T (p.Ser119=) single nucleotide variant Benign rs61736036 GRCh38 Chromosome 2, 208128371: 208128371
13 CRYGC NM_020989.3(CRYGC): c.357C> T (p.Ser119=) single nucleotide variant Benign rs61736036 GRCh37 Chromosome 2, 208993095: 208993095
14 CRYGC NM_020989.3(CRYGC): c.256G> T (p.Val86Phe) single nucleotide variant Likely benign rs150910237 GRCh38 Chromosome 2, 208128472: 208128472
15 CRYGC NM_020989.3(CRYGC): c.256G> T (p.Val86Phe) single nucleotide variant Likely benign rs150910237 GRCh37 Chromosome 2, 208993196: 208993196
16 CRYGC NM_020989.3(CRYGC): c.155A> C (p.Gln52Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 208129538: 208129538
17 CRYGC NM_020989.3(CRYGC): c.155A> C (p.Gln52Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 208994262: 208994262
18 CRYGC NM_020989.3(CRYGC): c.10-10T> C single nucleotide variant Benign rs199901300 GRCh38 Chromosome 2, 208129693: 208129693
19 CRYGC NM_020989.3(CRYGC): c.10-10T> C single nucleotide variant Benign rs199901300 GRCh37 Chromosome 2, 208994417: 208994417
20 CRYGC NM_020989.3(CRYGC): c.423dup (p.Arg142Alafs) duplication Pathogenic GRCh38 Chromosome 2, 208128305: 208128305
21 CRYGC NM_020989.3(CRYGC): c.280G> A (p.Glu94Lys) single nucleotide variant Uncertain significance rs200572745 GRCh38 Chromosome 2, 208128448: 208128448
22 CRYGC NM_020989.3(CRYGC): c.280G> A (p.Glu94Lys) single nucleotide variant Uncertain significance rs200572745 GRCh37 Chromosome 2, 208993172: 208993172
23 CRYGC NM_020989.3(CRYGC): c.423dup (p.Arg142Alafs) duplication Pathogenic GRCh37 Chromosome 2, 208993029: 208993029

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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