NEM2
MCID: NML003
MIFTS: 55
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Nemaline Myopathy 2 (NEM2)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Nemaline Myopathy 2:
Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy highly variable severity extraocular muscles are not involved slowly progressive or nonprogressive course many adults with typical form remain ambulatory Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Muscle diseases Neuronal diseases Respiratory diseases Bone diseases |
OMIM®: 57 Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006). (256030) (Updated 08-Dec-2022) MalaCards based summary: Nemaline Myopathy 2, also known as nemaline myopathy 2, autosomal recessive, is related to nemaline myopathy and myopathy, and has symptoms including waddling gait, generalized muscle weakness and facial paresis. An important gene associated with Nemaline Myopathy 2 is NEB (Nebulin), and among its related pathways/superpathways are Metabolism of nucleotides and Pyrimidine metabolism. Affiliated tissues include skeletal muscle, colon and lung, and related phenotypes are dysarthria and high palate UniProtKB/Swiss-Prot: 73 A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Disease Ontology: 11 A nemaline myopathy that has material basis in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. Wikipedia: 75 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary... more... |
Human phenotypes related to Nemaline Myopathy 2:30 (show top 50) (show all 53)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:256030 (Updated 08-Dec-2022)UMLS symptoms related to Nemaline Myopathy 2:waddling gait; generalized muscle weakness; facial paresis MGI Mouse Phenotypes related to Nemaline Myopathy 2:45
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Cochrane evidence based reviews: nemaline myopathy 2 |
Organs/tissues related to Nemaline Myopathy 2:
MalaCards :
Skeletal Muscle,
Colon,
Lung,
Brain
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Articles related to Nemaline Myopathy 2:(show top 50) (show all 76)
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ClinVar genetic disease variations for Nemaline Myopathy 2:5 (show top 50) (show all 5960)
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Search
GEO
for disease gene expression data for Nemaline Myopathy 2.
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Pathways related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:(show all 13)
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Cellular components related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:
Biological processes related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:
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