MCID: CTR165
MIFTS: 20

Cataract 19, Multiple Types

Categories: Genetic diseases, Eye diseases, Rare diseases, Fetal diseases, Oral diseases, Neuronal diseases, Nephrological diseases, Metabolic 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 75
Cataract, Multiple Types 19 75
Cataract 19 Multiple Types 12
Cataract 19 73

Characteristics:

OMIM:

57
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:

32
cataract 19, multiple types:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615277
Disease Ontology 12 DOID:0110263
ICD10 33 Q12.0
MeSH 44 D002386
SNOMED-CT via HPO 69 258211005 563001
UMLS 73 C3809004

Summaries for Cataract 19, Multiple Types

UniProtKB/Swiss-Prot : 75 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 cortical pulverulent cataract

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)

Symptoms & Phenotypes for Cataract 19, Multiple Types

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

615277

Human phenotypes related to Cataract 19, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 cortical pulverulent cataract 32 HP:0007780

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:

41
Eye

Publications for Cataract 19, Multiple Types

Variations for Cataract 19, Multiple Types

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

75
# 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 GRCh37 Chromosome 19, 51883799: 51883799
8 LIM2 NM_030657.3(LIM2): c.546C> A (p.Tyr182Ter) single nucleotide variant Uncertain significance 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 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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