CTRCT46
MCID: CTR188
MIFTS: 21

Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy (CTRCT46)

Categories: Cardiovascular diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Cataract 46, Juvenile-Onset, with or Without Arrhythmic...

MalaCards integrated aliases for Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy:

Name: Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy 56
Ctrct46 56 12 73
Cataract, Juvenile, Hutterite Type 56 73
Cataract 46, Juvenile-Onset 56 73
Juvenilae Cataract Hutterite Type 12
Cataract, Type 46, Juvenile-Onset 39
Cataract 46 Juvenile-Onset 12
Cataract Hutterite Type 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 4 lehrerleut and 1 schmiedeleut hutterite kindreds (last curated february 2020)
cataract develops in the first decade of life in most patients
sudden unexpected death in patients with arrhythmic cardiomyopathy
ventricular arrhythmias often precede dilation and left ventricular dysfunction


HPO:

31
cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110243
OMIM 56 212500
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
ICD10 32 Q12.0

Summaries for Cataract 46, Juvenile-Onset, with or Without Arrhythmic...

OMIM : 56 Juvenile-onset cataract-46 with or without arrhythmic cardiomyopathy (CRCT46) is characterized by onset of cataract in the first decades of life, associated with variable onset of a severe form of arrhythmic cardiomyopathy, with mild impairment of left ventricular systolic function but severe ventricular arrhythmias resulting in sudden cardiac death. Affected individuals are descendants of the Hutterite founder population (Abdelfatah et al., 2019). (212500)

MalaCards based summary : Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy, also known as ctrct46, is related to cataract hutterite type. An important gene associated with Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy is LEMD2 (LEM Domain Nuclear Envelope Protein 2). Affiliated tissues include eye and heart, and related phenotypes are developmental cataract and juvenile cataract

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

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Cataract 46, Juvenile-Onset, with or Without Arrhythmic...

Diseases related to Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract hutterite type 12.5

Symptoms & Phenotypes for Cataract 46, Juvenile-Onset, with or Without Arrhythmic...

Human phenotypes related to Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy:

31
# Description HPO Frequency HPO Source Accession
1 developmental cataract 31 HP:0000519
2 juvenile cataract 31 HP:0001118

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
t-wave inversion
cardiomyocyte hypertrophy
polymorphic ventricular tachycardia
premature ventricular contractions
arrhythmic cardiomyopathy (in some patients)
more
Head And Neck Eyes:
cataract, juvenile-onset

Clinical features from OMIM:

212500

Drugs & Therapeutics for Cataract 46, Juvenile-Onset, with or Without Arrhythmic...

Search Clinical Trials , NIH Clinical Center for Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy

Genetic Tests for Cataract 46, Juvenile-Onset, with or Without Arrhythmic...

Anatomical Context for Cataract 46, Juvenile-Onset, with or Without Arrhythmic...

MalaCards organs/tissues related to Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy:

40
Eye, Heart

Publications for Cataract 46, Juvenile-Onset, with or Without Arrhythmic...

Articles related to Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy:

# Title Authors PMID Year
1
Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2. 56 6
31061923 2019
2
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. 56 6
26788539 2016
3
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. 56 6
23863954 2013
4
Juvenile cataract in Hutterites. 6 56
4061486 1985
5
Juvenile cataract with autosomal recessive inheritance. A study from the Aland Islands, Finland. 56
1557971 1992
6
Childhood blindness in Cyprus. 56
5053700 1972
7
Congenital total cataract, possibly recessive. 56
13436738 1957
8
[Not Available]. 56
13398596 1956
9
[Studies on the inheritance of hydrophthalmos and of congenital cataract in villages of the Orobian foothills of the Aips]. 56
13113856 1954
10
An investigation into the mode of heredity of congenital and juvenile cataracts. 56
18143024 1949

Variations for Cataract 46, Juvenile-Onset, with or Without Arrhythmic...

ClinVar genetic disease variations for Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LEMD2 NM_181336.4(LEMD2):c.38T>G (p.Leu13Arg)SNV Pathogenic 235192 rs878852983 6:33756856-33756856 6:33789079-33789079

UniProtKB/Swiss-Prot genetic disease variations for Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy:

73
# Symbol AA change Variation ID SNP ID
1 LEMD2 p.Leu13Arg VAR_076992 rs878852983

Expression for Cataract 46, Juvenile-Onset, with or Without Arrhythmic...

Search GEO for disease gene expression data for Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy.

Pathways for Cataract 46, Juvenile-Onset, with or Without Arrhythmic...

GO Terms for Cataract 46, Juvenile-Onset, with or Without Arrhythmic...

Sources for Cataract 46, Juvenile-Onset, with or Without Arrhythmic...

3 CDC
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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