CTRCT19
MCID: CTR165
MIFTS: 25

Cataract 19, Multiple Types (CTRCT19)

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

Aliases & Classifications for Cataract 19, Multiple Types

MalaCards integrated aliases for Cataract 19, Multiple Types:

Name: Cataract 19, Multiple Types 57 29 6
Ctrct19 57 12 72
Cataract, Multiple Types 19 72
Cataract 19 Multiple Types 12
Cataract 19 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset, with cataract noted in early childhood in some patients and in the third to sixth decade of life in other patients


HPO:

31
cataract 19, multiple types:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110263
OMIM® 57 615277
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
SNOMED-CT via HPO 68 258211005 387742006 563001
UMLS 70 C3809004

Summaries for Cataract 19, Multiple Types

UniProtKB/Swiss-Prot : 72 Cataract, multiple types 19: 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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

MalaCards based summary : Cataract 19, Multiple Types, is also known as ctrct19, and has symptoms including glare - eye symptom An important gene associated with Cataract 19, Multiple Types is LIM2 (Lens Intrinsic Membrane Protein 2). Affiliated tissues include eye, and related phenotypes are nystagmus and amblyopia

Disease Ontology : 12 A cataract that has material basis in homozygous mutation in the LIM2 gene on chromosome 19q13.

OMIM® : 57 Mutation in the LIM2 gene has been identified in 1 family with cataracts described as late-onset cortical pulverulent and in another family with congenital cataracts described as total. (615277) (Updated 20-May-2021)

Symptoms & Phenotypes for Cataract 19, Multiple Types

Human phenotypes related to Cataract 19, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 amblyopia 31 HP:0000646
3 cortical pulverulent cataract 31 HP:0007780

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
decreased vision
glare
cataract, cortical pulverulent (in some patients)
congenital cataract, total (in some patients)
more

Clinical features from OMIM®:

615277 (Updated 20-May-2021)

UMLS symptoms related to Cataract 19, Multiple Types:


glare - eye symptom

Drugs & Therapeutics for Cataract 19, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 19, Multiple Types

Genetic Tests for Cataract 19, Multiple Types

Genetic tests related to Cataract 19, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract 19, Multiple Types 29 LIM2

Anatomical Context for Cataract 19, Multiple Types

MalaCards organs/tissues related to Cataract 19, Multiple Types:

40
Eye

Publications for Cataract 19, Multiple Types

Articles related to Cataract 19, Multiple Types:

(show all 11)
# Title Authors PMID Year
1
A missense mutation in LIM2 causes autosomal recessive congenital cataract. 57 6
18596884 2008
2
A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. 6 57
11917274 2002
3
Causes of Blindness in the Adult Population in Somalia. 61
33342196 2020
4
Treatment of submacular hemorrhage with tissue plasminogen activator and pneumatic displacement in age-related macular degeneration. 61
31813290 2019
5
[Lens luxation in dogs: a retrospective study of 134 dogs (2000-2011)]. 61
24568806 2014
6
Intraocular foreign bodies associated with traumatic cataract. 61
17345812 2006
7
Causes of visual impairment in two older population cross-sections: the Blue Mountains Eye Study. 61
14628964 2003
8
The VF-14 index of functional visual impairment in candidates for a corneal graft. 61
10482092 1999
9
Effect of cataract surgery on ocular axial length elongation in young children. 61
12580070 1998
10
The Hong Kong vision study: a pilot assessment of visual impairment in adults. 61
9440191 1997
11
Ultrasonographic findings in the anterior segment of the eye obtained with a nondedicated unit. 61
1450971 1992

Variations for Cataract 19, Multiple Types

ClinVar genetic disease variations for Cataract 19, Multiple Types:

6 (show all 43)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIM2 NM_001161748.2(LIM2):c.313T>G (p.Phe105Val) SNV Pathogenic 14356 rs121913555 GRCh37: 19:51885684-51885684
GRCh38: 19:51382430-51382430
2 LIM2 NM_001161748.2(LIM2):c.461G>A (p.Gly154Glu) SNV Pathogenic 224327 rs869312732 GRCh37: 19:51883516-51883516
GRCh38: 19:51380262-51380262
3 LIM2 NM_001161748.2(LIM2):c.231C>T (p.Ser77=) SNV Conflicting interpretations of pathogenicity 329974 rs8111243 GRCh37: 19:51885766-51885766
GRCh38: 19:51382512-51382512
4 LIM2 NM_001161748.2(LIM2):c.57G>A (p.Leu19=) SNV Conflicting interpretations of pathogenicity 541269 rs142517355 GRCh37: 19:51890641-51890641
GRCh38: 19:51387387-51387387
5 LIM2 NM_001161748.2(LIM2):c.175+50G>A SNV Uncertain significance 703338 rs147625714 GRCh37: 19:51890473-51890473
GRCh38: 19:51387219-51387219
6 LIM2 NM_001161748.2(LIM2):c.337G>A (p.Val113Met) SNV Uncertain significance 329971 rs73934370 GRCh37: 19:51883882-51883882
GRCh38: 19:51380628-51380628
7 LIM2 NM_001161748.2(LIM2):c.321del (p.Ser108fs) Deletion Uncertain significance 1015882 GRCh37: 19:51885676-51885676
GRCh38: 19:51382422-51382422
8 LIM2 NM_001161748.2(LIM2):c.484C>T (p.Arg162Trp) SNV Uncertain significance 1029169 GRCh37: 19:51883493-51883493
GRCh38: 19:51380239-51380239
9 LIM2 NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys) SNV Uncertain significance 625113 rs1568480054 GRCh37: 19:51883831-51883831
GRCh38: 19:51380577-51380577
10 LIM2 NM_001161748.2(LIM2):c.334G>A (p.Val112Ile) SNV Uncertain significance 329972 rs142030761 GRCh37: 19:51883885-51883885
GRCh38: 19:51380631-51380631
11 LIM2 NM_001161748.2(LIM2):c.175+87A>G SNV Uncertain significance 1050919 GRCh37: 19:51890436-51890436
GRCh38: 19:51387182-51387182
12 LIM2 NM_001161748.2(LIM2):c.420C>A (p.Tyr140Ter) SNV Uncertain significance 474242 rs1212925287 GRCh37: 19:51883799-51883799
GRCh38: 19:51380545-51380545
13 LIM2 NM_001161748.2(LIM2):c.131G>A (p.Arg44Gln) SNV Uncertain significance 329976 rs142234866 GRCh37: 19:51890567-51890567
GRCh38: 19:51387313-51387313
14 LIM2 NM_001161748.2(LIM2):c.248T>C (p.Ile83Thr) SNV Uncertain significance 329973 rs773568535 GRCh37: 19:51885749-51885749
GRCh38: 19:51382495-51382495
15 LIM2 NM_001161748.2(LIM2):c.-7+14G>A SNV Uncertain significance 329979 rs568064524 GRCh37: 19:51891159-51891159
GRCh38: 19:51387905-51387905
16 LIM2 NM_001161748.2(LIM2):c.-41G>A SNV Uncertain significance 329982 rs539594698 GRCh37: 19:51891207-51891207
GRCh38: 19:51387953-51387953
17 LIM2 NM_001161748.2(LIM2):c.108C>T (p.Ser36=) SNV Uncertain significance 329977 rs760441995 GRCh37: 19:51890590-51890590
GRCh38: 19:51387336-51387336
18 LIM2 NM_001161748.2(LIM2):c.175+28G>A SNV Uncertain significance 329975 rs199913969 GRCh37: 19:51890495-51890495
GRCh38: 19:51387241-51387241
19 LIM2 NM_001161748.2(LIM2):c.40G>A (p.Val14Met) SNV Uncertain significance 329978 rs202081431 GRCh37: 19:51890658-51890658
GRCh38: 19:51387404-51387404
20 LIM2 NM_001161748.2(LIM2):c.-29C>G SNV Uncertain significance 329981 rs886054601 GRCh37: 19:51891195-51891195
GRCh38: 19:51387941-51387941
21 LIM2 NM_001161748.2(LIM2):c.*218C>G SNV Uncertain significance 329970 rs886054600 GRCh37: 19:51883237-51883237
GRCh38: 19:51379983-51379983
22 LIM2 NM_001161748.2(LIM2):c.174C>T (p.Ile58=) SNV Uncertain significance 893018 GRCh37: 19:51890524-51890524
GRCh38: 19:51387270-51387270
23 LIM2 NM_001161748.2(LIM2):c.141G>C (p.Leu47=) SNV Uncertain significance 893019 GRCh37: 19:51890557-51890557
GRCh38: 19:51387303-51387303
24 LIM2 NM_001161748.2(LIM2):c.100T>A (p.Ser34Thr) SNV Uncertain significance 893020 GRCh37: 19:51890598-51890598
GRCh38: 19:51387344-51387344
25 LIM2 NM_001161748.2(LIM2):c.*291T>C SNV Uncertain significance 893201 GRCh37: 19:51883164-51883164
GRCh38: 19:51379910-51379910
26 LIM2 NM_001161748.2(LIM2):c.*245A>G SNV Uncertain significance 893202 GRCh37: 19:51883210-51883210
GRCh38: 19:51379956-51379956
27 LIM2 NM_001161748.2(LIM2):c.*58G>A SNV Uncertain significance 893203 GRCh37: 19:51883397-51883397
GRCh38: 19:51380143-51380143
28 LIM2 NM_001161748.2(LIM2):c.500G>A (p.Arg167Gln) SNV Uncertain significance 893204 GRCh37: 19:51883477-51883477
GRCh38: 19:51380223-51380223
29 LIM2 NM_001161748.2(LIM2):c.24C>T (p.Gly8=) SNV Uncertain significance 893238 GRCh37: 19:51890674-51890674
GRCh38: 19:51387420-51387420
30 LIM2 NM_001161748.2(LIM2):c.-27C>A SNV Uncertain significance 893239 GRCh37: 19:51891193-51891193
GRCh38: 19:51387939-51387939
31 LIM2 NM_001161748.2(LIM2):c.460+9G>A SNV Uncertain significance 894047 GRCh37: 19:51883750-51883750
GRCh38: 19:51380496-51380496
32 LIM2 NM_001161748.2(LIM2):c.380T>C (p.Leu127Pro) SNV Uncertain significance 894048 GRCh37: 19:51883839-51883839
GRCh38: 19:51380585-51380585
33 LIM2 NM_001161748.2(LIM2):c.357C>T (p.Tyr119=) SNV Uncertain significance 894049 GRCh37: 19:51883862-51883862
GRCh38: 19:51380608-51380608
34 LIM2 NM_001161748.2(LIM2):c.337G>C (p.Val113Leu) SNV Uncertain significance 894050 GRCh37: 19:51883882-51883882
GRCh38: 19:51380628-51380628
35 LIM2 NM_001161748.2(LIM2):c.333C>T (p.Phe111=) SNV Uncertain significance 894051 GRCh37: 19:51883886-51883886
GRCh38: 19:51380632-51380632
36 LIM2 NM_001161748.2(LIM2):c.193C>T (p.Arg65Trp) SNV Uncertain significance 894447 GRCh37: 19:51885804-51885804
GRCh38: 19:51382550-51382550
37 LIM2 NM_001161748.2(LIM2):c.175+113G>C SNV Uncertain significance 894448 GRCh37: 19:51890410-51890410
GRCh38: 19:51387156-51387156
38 LIM2 NM_001161748.2(LIM2):c.175+77T>C SNV Uncertain significance 894449 GRCh37: 19:51890446-51890446
GRCh38: 19:51387192-51387192
39 LIM2 NM_001161748.2(LIM2):c.175+56C>T SNV Uncertain significance 894450 GRCh37: 19:51890467-51890467
GRCh38: 19:51387213-51387213
40 LIM2 NM_001161748.2(LIM2):c.175+30G>A SNV Uncertain significance 894451 GRCh37: 19:51890493-51890493
GRCh38: 19:51387239-51387239
41 LIM2 NM_001161748.2(LIM2):c.175+83A>G SNV Likely benign 702016 rs201295572 GRCh37: 19:51890440-51890440
GRCh38: 19:51387186-51387186
42 LIM2 NM_001161748.2(LIM2):c.-27C>T SNV Likely benign 329980 rs113926789 GRCh37: 19:51891193-51891193
GRCh38: 19:51387939-51387939
43 LIM2 NM_001161748.2(LIM2):c.175+11C>T SNV Benign/Likely benign 702391 rs73933350 GRCh37: 19:51890512-51890512
GRCh38: 19:51387258-51387258

UniProtKB/Swiss-Prot genetic disease variations for Cataract 19, Multiple Types:

72
# Symbol AA change Variation ID SNP ID
1 LIM2 p.Phe105Val VAR_069796 rs121913555

Expression for Cataract 19, Multiple Types

Search GEO for disease gene expression data for Cataract 19, Multiple Types.

Pathways for Cataract 19, Multiple Types

GO Terms for Cataract 19, Multiple Types

Sources for Cataract 19, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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