CTRCT46
MCID: CTR163
MIFTS: 19

Cataract 46, Juvenile-Onset (CTRCT46)

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

Aliases & Classifications for Cataract 46, Juvenile-Onset

MalaCards integrated aliases for Cataract 46, Juvenile-Onset:

Name: Cataract 46, Juvenile-Onset 58 76
Ctrct46 58 12 76
Cataract, Juvenile, Hutterite Type 58 76
Cataract Hutterite Type 76 74
Juvenilae Cataract Hutterite Type 12
Cataract, Type 46, Juvenile-Onset 41
Cataract 46 Juvenile-Onset 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 4 lehrerleut hutterite kindreds
cataract develops in the first decade of life in most patients
sudden cardiac death at an early age has been reported in some individuals with cataract in 2 of the kindreds


HPO:

33
cataract 46, juvenile-onset:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110243
OMIM 58 212500
MeSH 45 D002386
ICD10 34 Q12.0
UMLS 74 C2931791

Summaries for Cataract 46, Juvenile-Onset

UniProtKB/Swiss-Prot : 76 Cataract 46, juvenile-onset: A form of cataract, 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 46, Juvenile-Onset, also known as ctrct46, is related to cataract hutterite type. An important gene associated with Cataract 46, Juvenile-Onset is LEMD2 (LEM Domain Containing 2). Affiliated tissues include eye, and related phenotypes are juvenile cataract and developmental cataract

Disease Ontology : 12 A cataract that has material basis in homozygous mutation in the LEMD2 gene on chromosome 6p21.

Description from OMIM: 212500

Related Diseases for Cataract 46, Juvenile-Onset

Symptoms & Phenotypes for Cataract 46, Juvenile-Onset

Human phenotypes related to Cataract 46, Juvenile-Onset:

33
# Description HPO Frequency HPO Source Accession
1 juvenile cataract 33 HP:0001118
2 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract, juvenile-onset

Clinical features from OMIM:

212500

Drugs & Therapeutics for Cataract 46, Juvenile-Onset

Search Clinical Trials , NIH Clinical Center for Cataract 46, Juvenile-Onset

Genetic Tests for Cataract 46, Juvenile-Onset

Anatomical Context for Cataract 46, Juvenile-Onset

MalaCards organs/tissues related to Cataract 46, Juvenile-Onset:

42
Eye

Publications for Cataract 46, Juvenile-Onset

Variations for Cataract 46, Juvenile-Onset

UniProtKB/Swiss-Prot genetic disease variations for Cataract 46, Juvenile-Onset:

76
# Symbol AA change Variation ID SNP ID
1 LEMD2 p.Leu13Arg VAR_076992 rs878852983

ClinVar genetic disease variations for Cataract 46, Juvenile-Onset:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LEMD2 NM_181336.3(LEMD2): c.38T> G (p.Leu13Arg) single nucleotide variant Pathogenic rs878852983 GRCh37 Chromosome 6, 33756856: 33756856
2 LEMD2 NM_181336.3(LEMD2): c.38T> G (p.Leu13Arg) single nucleotide variant Pathogenic rs878852983 GRCh38 Chromosome 6, 33789079: 33789079

Expression for Cataract 46, Juvenile-Onset

Search GEO for disease gene expression data for Cataract 46, Juvenile-Onset.

Pathways for Cataract 46, Juvenile-Onset

GO Terms for Cataract 46, Juvenile-Onset

Sources for Cataract 46, Juvenile-Onset

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
Content
Loading form....