CTRCT45
MCID: CTR160
MIFTS: 20

Cataract 45 (CTRCT45)

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

Aliases & Classifications for Cataract 45

MalaCards integrated aliases for Cataract 45:

Name: Cataract 45 57 12 72 29 6
Ctrct45 57 12 72

Characteristics:

OMIM®:

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

Miscellaneous:
cataract evident at birth
based on report of 2 affected sisters (last curated march 2016)


HPO:

31
cataract 45:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110262
OMIM® 57 616851
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
SNOMED-CT via HPO 68 258211005 609587005 79410001

Summaries for Cataract 45

UniProtKB/Swiss-Prot : 72 Cataract 45: 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 45, is also known as ctrct45. An important gene associated with Cataract 45 is SIPA1L3 (Signal Induced Proliferation Associated 1 Like 3). Affiliated tissues include eye, and related phenotype is developmental cataract.

Disease Ontology : 12 A cataract that has material basis in homozygous mutation in the SIPA1L3 gene on chromosome 19q13.

More information from OMIM: 616851 PS116200

Symptoms & Phenotypes for Cataract 45

Human phenotypes related to Cataract 45:

31
# Description HPO Frequency HPO Source Accession
1 developmental cataract 31 HP:0000519

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
congenital cataract, dense white

Clinical features from OMIM®:

616851 (Updated 20-May-2021)

Drugs & Therapeutics for Cataract 45

Search Clinical Trials , NIH Clinical Center for Cataract 45

Genetic Tests for Cataract 45

Genetic tests related to Cataract 45:

# Genetic test Affiliating Genes
1 Cataract 45 29 SIPA1L3

Anatomical Context for Cataract 45

MalaCards organs/tissues related to Cataract 45:

40
Eye

Publications for Cataract 45

Articles related to Cataract 45:

# Title Authors PMID Year
1
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. 6 57
25804400 2015
2
Prevalence and Causes of Visual Impairment and Blindness among Cocoa Farmers in Ghana. 61
27960580 2017
3
Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci. 61
25352737 2014
4
Vogt-Koyanagi-Harada disease in Thailand. 61
23163754 2012
5
Strabismus in developmental cataract. 61
18609471 2008
6
Proton beam therapy for iris melanomas. 61
16294207 2006
7
[Choice in the use of local and regional anesthesia in ophthalmologic surgery]. 61
3442743 1987

Variations for Cataract 45

ClinVar genetic disease variations for Cataract 45:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SIPA1L3 NM_015073.3(SIPA1L3):c.4489C>T (p.Arg1497Ter) SNV Pathogenic 223242 rs756898971 GRCh37: 19:38682843-38682843
GRCh38: 19:38192203-38192203
2 SIPA1L3 NM_015073.3(SIPA1L3):c.3535T>G (p.Tyr1179Asp) SNV Uncertain significance 931642 GRCh37: 19:38643481-38643481
GRCh38: 19:38152841-38152841
3 SIPA1L3 NM_015073.3(SIPA1L3):c.5248C>T (p.Arg1750Trp) SNV Uncertain significance 931643 GRCh37: 19:38696782-38696782
GRCh38: 19:38206142-38206142
4 SIPA1L3 NM_015073.3(SIPA1L3):c.947G>A (p.Arg316His) SNV Uncertain significance 1032651 GRCh37: 19:38573152-38573152
GRCh38: 19:38082512-38082512

Expression for Cataract 45

Search GEO for disease gene expression data for Cataract 45.

Pathways for Cataract 45

GO Terms for Cataract 45

Sources for Cataract 45

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
Content
Loading form....