nemaline myopathy 3

Summary
Synonym
  • NEM3
  • congenital myopathy 2A
  • nemaline myopathy 3, autosomal dominant or recessive
Definition
A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.
Super Class
autosomal recessive disease nemaline myopathy
Disease Ontology
DOID:0110927
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
58 ACTA1 actin alpha 1, skeletal muscle
Displaying 1 entry
Gene ID Gene Symbol Description Source
11459 Acta1 actin alpha 1, skeletal muscle
Displaying 1 entry
Gene ID Gene Symbol Description Source
29437 Acta1 actin, alpha 1, skeletal muscle
The Human Phenotype Ontology
Displaying entries 21 - 30 of 100 in total
HPO ID HPO Term
HP:0001265 Hyporeflexia
HP:0001270 Motor delay
HP:0001284 Areflexia
HP:0001288 Gait disturbance
HP:0001290 Generalized hypotonia
HP:0001319 Neonatal hypotonia
HP:0001349 Facial diplegia
HP:0001371 Flexion contracture
HP:0001533 Slender build
HP:0001558 Decreased fetal movement
Displaying 1 entry
Gene ID Gene Symbol Description
58 ACTA1 actin alpha 1, skeletal muscle

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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: February 17, 2025