Nemaline Myopathy 2 (NEM2)

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Disease Ontology 12 DOID:0110928 OMIM 58 256030 MeSH 45 D017696

MedGen 43 C1850569 CN187052 SNOMED-CT via HPO 70 1023001 111246005 111266001 193093009 19416009 203598005 205294008 248583008 249710008 249939004 253096008 258211005 26432009 271706000 27272007 276369006 282145008 288939007 349006 371405004 371409005 37280007 385522000 398432008 405946002 40739000 55033002 57048009 61960001 63567004 64217002 713514005 73676002 77016009 78164000 7890003 86203003 87979003 88565003 95515009 95666008 more UMLS 74 C1850569

OMIM : ⁵⁸ Nemaline myopathy-2 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 from the severe form with perinatal onset and fetal death to milder forms with later onset. 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)

MalaCards based summary : Nemaline Myopathy 2, also known as nemaline myopathy 2, autosomal recessive, is related to intermediate congenital nemaline myopathy and childhood-onset nemaline myopathy, and has symptoms including generalized muscle weakness, waddling gait and facial paresis. An important gene associated with Nemaline Myopathy 2 is NEB (Nebulin), and among its related pathways/superpathways are Vascular smooth muscle contraction and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Affiliated tissues include skeletal muscle, eye and bone, and related phenotypes are low-set ears and high palate

Disease Ontology : ¹² A nemaline myopathy that has material basis in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.

UniProtKB/Swiss-Prot : ⁷⁶ Nemaline myopathy 2: 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.

Wikipedia : ⁷⁷ Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

Clinical features from OMIM:

256030

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased substrate adherent cell growth	GR00193-A-1	9.1	ADORA1 ADORA2B ADORA3 TTN
2	Decreased substrate adherent cell growth	GR00193-A-3	9.1	ADORA1 ADORA2B

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 2

Search GEO for disease gene expression data for Nemaline Myopathy 2.