CTRCT19
MCID: CTR165
MIFTS: 23

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 58 30 6
Ctrct19 58 12 76
Cataract, Multiple Types 19 76
Cataract 19 Multiple Types 12
Cataract 19 74

Characteristics:

OMIM:

58
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:

33
cataract 19, multiple types:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110263
OMIM 58 615277
MeSH 45 D002386
ICD10 34 Q12.0
SNOMED-CT via HPO 70 258211005 387742006 563001
UMLS 74 C3809004

Summaries for Cataract 19, Multiple Types

UniProtKB/Swiss-Prot : 76 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 : 58 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)

Symptoms & Phenotypes for Cataract 19, Multiple Types

Human phenotypes related to Cataract 19, Multiple Types:

33
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 amblyopia 33 HP:0000646
3 cortical pulverulent cataract 33 HP:0007780

Symptoms via clinical synopsis from OMIM:

58
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

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 30 LIM2

Anatomical Context for Cataract 19, Multiple Types

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

42
Eye

Publications for Cataract 19, Multiple Types

Articles related to Cataract 19, Multiple Types:

# Title Authors Year
1
A missense mutation in LIM2 causes autosomal recessive congenital cataract. ( 18596884 )
2008
2
A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. ( 11917274 )
2002

Variations for Cataract 19, Multiple Types

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

76
# Symbol AA change Variation ID SNP ID
1 LIM2 p.Phe105Val VAR_069796 rs121913555

ClinVar genetic disease variations for Cataract 19, Multiple Types:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LIM2 NM_030657.3(LIM2): c.439T> G (p.Phe147Val) single nucleotide variant Pathogenic rs121913555 GRCh37 Chromosome 19, 51885684: 51885684
2 LIM2 NM_030657.3(LIM2): c.439T> G (p.Phe147Val) single nucleotide variant Pathogenic rs121913555 GRCh38 Chromosome 19, 51382430: 51382430
3 LIM2 NM_030657.3(LIM2): c.587G> A (p.Gly196Glu) single nucleotide variant Pathogenic rs869312732 GRCh38 Chromosome 19, 51380262: 51380262
4 LIM2 NM_030657.3(LIM2): c.587G> A (p.Gly196Glu) single nucleotide variant Pathogenic rs869312732 GRCh37 Chromosome 19, 51883516: 51883516
5 LIM2 NM_030657.3(LIM2): c.357C> T (p.Ser119=) single nucleotide variant Conflicting interpretations of pathogenicity rs8111243 GRCh37 Chromosome 19, 51885766: 51885766
6 LIM2 NM_030657.3(LIM2): c.357C> T (p.Ser119=) single nucleotide variant Conflicting interpretations of pathogenicity rs8111243 GRCh38 Chromosome 19, 51382512: 51382512
7 LIM2 NM_030657.3(LIM2): c.546C> A (p.Tyr182Ter) single nucleotide variant Uncertain significance rs1212925287 GRCh37 Chromosome 19, 51883799: 51883799
8 LIM2 NM_030657.3(LIM2): c.546C> A (p.Tyr182Ter) single nucleotide variant Uncertain significance rs1212925287 GRCh38 Chromosome 19, 51380545: 51380545
9 LIM2 NM_030657.3(LIM2): c.57G> A (p.Leu19=) single nucleotide variant Benign rs142517355 GRCh38 Chromosome 19, 51387387: 51387387
10 LIM2 NM_030657.3(LIM2): c.57G> A (p.Leu19=) single nucleotide variant Benign rs142517355 GRCh37 Chromosome 19, 51890641: 51890641

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
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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