Emery-Dreifuss muscular dystrophy

Summary
Synonym
  • EDMD
Definition
A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
Super Class
muscular dystrophy
Disease Ontology
DOID:11726
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
2010 EMD emerin
4000 LMNA lamin A/C
4001 LMNB1 lamin B1
23224 SYNE2 spectrin repeat containing nuclear envelope protein 2
23345 SYNE1 spectrin repeat containing nuclear envelope protein 1
23592 LEMD3 LEM domain containing 3
51361 HOOK1 hook microtubule tethering protein 1
84823 LMNB2 lamin B2
221496 LEMD2 LEM domain nuclear envelope protein 2
Displaying all 8 entries
Gene ID Gene Symbol Description Source
13726 Emd emerin
16905 Lmna lamin A
16906 Lmnb1 lamin B1
16907 Lmnb2 lamin B2
21917 Tmpo thymopoietin
64009 Syne1 spectrin repeat containing, nuclear envelope 1
319565 Syne2 spectrin repeat containing, nuclear envelope 2
380664 Lemd3 LEM domain containing 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
116685 Lmnb1 lamin B1
Displaying 1 entry
Gene ID Gene Symbol Description Source
3771968 Msp300 Muscle-specific protein 300 kDa

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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: December 9, 2024