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 57 12 75 29 6
Ctrct45 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
cataract 45:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616851
Disease Ontology 12 DOID:0110262
ICD10 33 Q12.0
MeSH 44 D002386
SNOMED-CT via HPO 69 258211005 609587005 79410001

Summaries for Cataract 45

UniProtKB/Swiss-Prot : 75 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 congenital 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
congenital cataract, dense white


Clinical features from OMIM:

616851

Human phenotypes related to Cataract 45:

32
# Description HPO Frequency HPO Source Accession
1 congenital cataract 32 HP:0000519

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:

41
Eye

Publications for Cataract 45

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 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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