CTRCT2
MCID: CTR102
MIFTS: 31

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 57 74 13
Cataract, Coppock-Like 57 29 6 72
Ctrct2 57 12 74
Cataract 2, Multiple Types, with or Without Microcornea 57 74
Ccl 57 74
Cataract 2 Multiple Types with or Without Microcornea 12
Cataract, Variable Zonular Pulverulent 72
Variable Zonular Pulverulent Cataract 74
Cataract, Coppock-Like; Ccl 57
Cataract Embryonic Nuclear 74
Cataract 2 Multiple Types 12
Cataract Coppock-Like 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cataract 2, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110235
MeSH 44 D002386
ICD10 33 Q12.0
UMLS 72 C1852429 C1852438

Summaries for Cataract 2, Multiple Types

UniProtKB/Swiss-Prot : 74 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 : 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 48 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 top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 cataract 30, multiple types 11.6
2 cataract 30 11.6
3 liver cirrhosis 10.5
4 liver disease 10.4
5 cataract 10.4
6 early-onset non-syndromic cataract 10.4
7 fibrosis of extraocular muscles, congenital, 1 10.4
8 acute liver failure 10.2
9 dermatitis, atopic 10.1
10 fatty liver disease, nonalcoholic 1 10.1
11 portal hypertension 10.1
12 autoimmune disease 10.0
13 hepatocellular carcinoma 10.0
14 adult t-cell leukemia 10.0
15 non-alcoholic fatty liver disease 10.0
16 hepatic coma 10.0
17 hepatic encephalopathy 10.0
18 viral hepatitis 10.0
19 dermatitis 10.0
20 glomerulonephritis 10.0
21 t-cell leukemia 10.0
22 fatty liver disease 10.0
23 cytokine deficiency 10.0
24 human t-cell leukemia virus type 1 10.0
25 leukemia, t-cell, chronic 10.0
26 alcohol dependence 9.9
27 atherosclerosis susceptibility 9.9
28 atrial standstill 1 9.9
29 breast cancer 9.9
30 multiple sclerosis 9.9
31 systemic lupus erythematosus 9.9
32 myelopathy, htlv-1-associated 9.9
33 papillomatosis, confluent and reticulated 9.9
34 rheumatoid arthritis 9.9
35 sarcoidosis 1 9.9
36 atrioventricular dissociation 9.9
37 ataxia and polyneuropathy, adult-onset 9.9
38 asthma 9.9
39 yemenite deaf-blind hypopigmentation syndrome 9.9
40 major depressive disorder 9.9
41 autosomal recessive disease 9.9
42 cardiac arrest 9.9
43 bone resorption disease 9.9
44 keratoconus 9.9
45 mastitis 9.9
46 filariasis 9.9
47 mansonelliasis 9.9
48 pertussis 9.9
49 pulmonary sarcoidosis 9.9
50 bipolar i disorder 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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 photophobia 32 occasional (7.5%) HP:0000613
2 microcornea 32 occasional (7.5%) HP:0000482
3 nystagmus 32 HP:0000639
4 amblyopia 32 HP:0000646
5 nuclear cataract 32 HP:0100018
6 developmental cataract 32 HP:0000519

Symptoms via clinical synopsis from OMIM:

57
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 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:

(show all 11)
# Title Authors PMID Year
1
A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. 38 8 71
10914683 2000
2
A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens. 8 71
22052681 2012
3
A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. 8 71
22876111 2012
4
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. 8 71
19204787 2009
5
A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity. 8 71
17679936 2007
6
Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. 8 71
12011157 2002
7
Autosomal dominant congenital cataract. Interocular phenotypic variability. 8 71
8190472 1994
8
Analysis of protein-coding genetic variation in 60,706 humans. 71
27535533 2016
9
The gamma-crystallins and human cataracts: a puzzle made clearer. 8
10521291 1999
10
Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract. 8
8004095 1994
11
A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family. 8
3025877 1987

Variations for Cataract 2, Multiple Types

ClinVar genetic disease variations for Cataract 2, Multiple Types:

6 (show all 13)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CRYGC NM_020989.4(CRYGC): c.470G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs398122392 2:208992982-208992982 2:208128258-208128258
2 CRYGC NM_020989.4(CRYGC): c.471G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs398122944 2:208992981-208992981 2:208128257-208128257
3 CRYGC NM_020989.4(CRYGC): c.385G> T (p.Gly129Cys) single nucleotide variant Pathogenic rs137853924 2:208993067-208993067 2:208128343-208128343
4 CRYGC NM_020989.4(CRYGC): c.497C> T (p.Ser166Phe) single nucleotide variant Pathogenic rs587778872 2:208992955-208992955 2:208128231-208128231
5 CRYGC NM_020989.4(CRYGC): c.423dup (p.Arg142fs) duplication Pathogenic rs1553585262 2:208993029-208993029 2:208128305-208128305
6 CRYGC CRYGC, 5-BP DUP, NT226 duplication Pathogenic
7 CRYGC NM_020989.4(CRYGC): c.502C> T (p.Arg168Trp) single nucleotide variant Uncertain significance rs28931604 2:208992950-208992950 2:208128226-208128226
8 CRYGC NM_020989.4(CRYGC): c.155A> C (p.Gln52Pro) single nucleotide variant Uncertain significance rs1553585708 2:208994262-208994262 2:208129538-208129538
9 CRYGC NM_020989.4(CRYGC): c.280G> A (p.Glu94Lys) single nucleotide variant Uncertain significance rs200572745 2:208993172-208993172 2:208128448-208128448
10 CRYGC NM_020989.4(CRYGC): c.256G> T (p.Val86Phe) single nucleotide variant Likely benign rs150910237 2:208993196-208993196 2:208128472-208128472
11 CRYGC NM_020989.4(CRYGC): c.10-10T> C single nucleotide variant Benign rs199901300 2:208994417-208994417 2:208129693-208129693
12 CRYGC NM_020989.4(CRYGC): c.123C> T (p.Gly41=) single nucleotide variant Benign rs115828074 2:208994294-208994294 2:208129570-208129570
13 CRYGC NM_020989.4(CRYGC): c.357C> T (p.Ser119=) single nucleotide variant Benign rs61736036 2:208993095-208993095 2:208128371-208128371

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

74
# Symbol AA change Variation ID SNP ID
1 CRYGC p.Thr5Pro VAR_021142 rs104893618
2 CRYGC p.Gly129Cys VAR_067212 rs137853924

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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