MCID: CTR163
MIFTS: 19

Cataract 46, Juvenile-Onset

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

Aliases & Classifications for Cataract 46, Juvenile-Onset

MalaCards integrated aliases for Cataract 46, Juvenile-Onset:

Name: Cataract 46, Juvenile-Onset 57 75
Ctrct46 57 12 75
Cataract, Juvenile, Hutterite Type 57 75
Cataract Hutterite Type 75 73
Juvenilae Cataract Hutterite Type 12
Cataract 46 Juvenile-Onset 12

Characteristics:

OMIM:

57
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:

32
cataract 46, juvenile-onset:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 212500
Disease Ontology 12 DOID:0110243
ICD10 33 Q12.0
MeSH 44 D002386
UMLS 73 C2931791

Summaries for Cataract 46, Juvenile-Onset

UniProtKB/Swiss-Prot : 75 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 congenital cataract and juvenile 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract, juvenile-onset


Clinical features from OMIM:

212500

Human phenotypes related to Cataract 46, Juvenile-Onset:

32
# Description HPO Frequency HPO Source Accession
1 congenital cataract 32 HP:0000519
2 juvenile cataract 32 HP:0001118

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:

41
Eye

Publications for Cataract 46, Juvenile-Onset

Variations for Cataract 46, Juvenile-Onset

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

75
# 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 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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