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Cataract 46 juvenile-onset(CTRCT46)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY; Cataract Hutterite type; Cataracts, Autosomal Recessive
Gene (location): LEMD2 (6p21.31)
Monarch Initiative: MONDO:0008925
OMIM®: 212500


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). [from OMIM]

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
Concept ID:
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Cardiac arrhythmia
MedGen UID:
Concept ID:
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Juvenile cataract
MedGen UID:
Concept ID:
Anatomical Abnormality
A type of cataract that is not apparent at birth but that arises in childhood or adolescence.

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