rippling muscle disease 2

Summary
Synonym
  • autosomal dominant limb-girdle muscular dystrophy type 1C
Definition
A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.
Super Class
autosomal dominant disease muscle tissue disease
External Links
Disease Ontology
DOID:0060255
Mondo Disease Ontology
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 30 of 50 in total
Gene ID Gene Symbol Description Source
5286 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
5373 PMM2 phosphomannomutase 2
5553 PRG2 proteoglycan 2, pro eosinophil major basic protein
6383 SDC2 syndecan 2
6476 SI sucrase-isomaltase
8813 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
8818 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory
8867 SYNJ1 synaptojanin 1
8871 SYNJ2 synaptojanin 2
8972 MGAM maltase-glucoamylase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024