Huntington Disease-Like 2 (HDL2)

Huntington Disease-Like 2(来自ICD-11)
别称:
Hdl2
Huntington's Disease-Like 2
Huntington Disease-Like, Type 2
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Basic Information
Medical Symptom
Gene & Mutation
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Disease Model
References Literature
Huntington Disease-Like 2, also known as hdl2, is related to neuroacanthocytosis and choreoacanthocytosis, and has symptoms including muscle rigidity, bradykinesia and action tremor. An important gene associated with Huntington Disease-Like 2 is JPH3 (Junctophilin 3). The drugs Hydroxymethylglutaryl-CoA Reductase Inhibitors and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include caudate nucleus and heart, and related phenotypes are abnormality of movement and personality changes
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MALACARDS
AD
Adult
<1/1000000
26
218
31

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