CTRCT45
MCID: CTR160
MIFTS: 18

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 58 12 76 30 6
Ctrct45 58 12 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
cataract 45:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110262
OMIM 58 616851
MeSH 45 D002386
ICD10 34 Q12.0
SNOMED-CT via HPO 70 258211005 609587005 79410001

Summaries for Cataract 45

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 616851

Symptoms & Phenotypes for Cataract 45

Human phenotypes related to Cataract 45:

33
# Description HPO Frequency HPO Source Accession
1 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
congenital cataract, dense white

Clinical features from OMIM:

616851

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 30 SIPA1L3

Anatomical Context for Cataract 45

MalaCards organs/tissues related to Cataract 45:

42
Eye

Publications for Cataract 45

Articles related to Cataract 45:

# Title Authors Year
1
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. ( 25804400 )
2015

Variations for Cataract 45

ClinVar genetic disease variations for Cataract 45:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SIPA1L3 NM_015073.2(SIPA1L3): c.4489C> T (p.Arg1497Ter) single nucleotide variant Pathogenic rs756898971 GRCh37 Chromosome 19, 38682843: 38682843
2 SIPA1L3 NM_015073.2(SIPA1L3): c.4489C> T (p.Arg1497Ter) single nucleotide variant Pathogenic rs756898971 GRCh38 Chromosome 19, 38192203: 38192203

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
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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