centronuclear myopathy 1

Summary
Synonym
  • CNM1
Definition
An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2.
Super Class
autosomal dominant centronuclear myopathy
Disease Ontology
DOID:0111223
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1759 DNM1 dynamin 1
1785 DNM2 dynamin 2
64419 MTMR14 myotubularin related protein 14
Displaying all 4 entries
Gene ID Gene Symbol Description Source
13429 Dnm1 dynamin 1
13430 Dnm2 dynamin 2
97287 Mtmr14 myotubularin related protein 14
103967 Dnm3 dynamin 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
140694 Dnm1 dynamin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
853870 VPS1 dynamin-like GTPase VPS1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 47 in total
HPO ID HPO Term
HP:0001436 Abnormality of the foot musculature
HP:0000544 External ophthalmoplegia
HP:0002021 Pyloric stenosis
HP:0000028 Cryptorchidism
HP:0001558 Decreased fetal movement
HP:0002194 Delayed gross motor development
HP:0001048 Cavernous hemangioma
HP:0000020 Urinary incontinence
HP:0001520 Large for gestational age
HP:0002047 Malignant hyperthermia
Displaying all 2 entries
Gene ID Gene Symbol Description
1785 DNM2 dynamin 2
64419 MTMR14 myotubularin related protein 14

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Last updated: December 9, 2024