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CNM1
MCID: MYP123
MIFTS: 43
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Myopathy, Centronuclear, 1 (CNM1)
Categories:
Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Myopathy, Centronuclear, 1:
Characteristics:Orphanet epidemiological data:60
autosomal dominant centronuclear myopathy
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
slowly progressive variable age of onset (range early childhood to adult) HPO:33
myopathy, centronuclear, 1:
Onset and clinical course slow progression Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases Cardiovascular diseases Bone diseases
ICD10:
35
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NIH Rare Diseases
:
54
Autosomal dominant centronuclear myopathy (AD-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AD-CNM, specifically, the severity of the condition and the associated signs and symptoms vary significantly among affected people. In people with a mild form, features of the condition generally don't develop until adolescence or early adulthood and may include slowly progressive muscle weakness, muscle pain with exercise and difficulty walking. Although some affected people will eventually lose the ability to walk, this usually does not occur before the 6th decade of life. In more severe cases, affected people may develop symptoms during infancy or early childhood such as hypotonia and generalized weakness. These children generally have delayed motor milestones and often need wheelchair assistance in childhood or adolescence. Most cases of AD-CNM are caused by changes (mutations) in the DNM2 gene; however, some affected families are reported to have mutations in the MYF6 or CCDC78 genes. The condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include physical and/or occupational therapy and assistive devices to help with mobility, eating and/or breathing.
MalaCards based summary : Myopathy, Centronuclear, 1, also known as myopathy, centronuclear, autosomal dominant, is related to centronuclear myopathy and myopathy, centronuclear, 5, and has symptoms including ophthalmoparesis and facial paresis. An important gene associated with Myopathy, Centronuclear, 1 is DNM2 (Dynamin 2), and among its related pathways/superpathways are Ca, cAMP and Lipid Signaling and Fc gamma R-mediated phagocytosis. Affiliated tissues include eye, skeletal muscle and bone, and related phenotypes are centrally nucleated skeletal muscle fibers and ptosis OMIM : 58 Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting. The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers (summary by Bitoun et al., 2005). (160150) UniProtKB/Swiss-Prot : 76 Myopathy, centronuclear, 1: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. |
Diseases in the Centronuclear Myopathy family:
Diseases related to Myopathy, Centronuclear, 1 via text searches within MalaCards or GeneCards Suite gene sharing:(show all 11)
Graphical network of the top 20 diseases related to Myopathy, Centronuclear, 1:
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Human phenotypes related to Myopathy, Centronuclear, 1:60 33 (show all 40)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:160150UMLS symptoms related to Myopathy, Centronuclear, 1:ophthalmoparesis, facial paresis GenomeRNAi Phenotypes related to Myopathy, Centronuclear, 1 according to GeneCards Suite gene sharing:27 (show all 11)
MGI Mouse Phenotypes related to Myopathy, Centronuclear, 1:47
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MalaCards organs/tissues related to Myopathy, Centronuclear, 1:42
Eye,
Skeletal Muscle,
Bone
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Articles related to Myopathy, Centronuclear, 1:
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Genes related to Myopathy, Centronuclear, 1 (5 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Centronuclear, 1:76 (show all 19)
ClinVar genetic disease variations for Myopathy, Centronuclear, 1:6 (show all 20)
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Search
GEO
for disease gene expression data for Myopathy, Centronuclear, 1.
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Cellular components related to Myopathy, Centronuclear, 1 according to GeneCards Suite gene sharing:
Biological processes related to Myopathy, Centronuclear, 1 according to GeneCards Suite gene sharing:
Molecular functions related to Myopathy, Centronuclear, 1 according to GeneCards Suite gene sharing:
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