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NEM10
MCID: NML022
MIFTS: 35
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Nemaline Myopathy 10 (NEM10)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Nemaline Myopathy 10:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
prenatal or neonatal onset death usually in infancy due to respiratory failure HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Muscle diseases Neuronal diseases Bone diseases |
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UniProtKB/Swiss-Prot :
73
Nemaline myopathy 10: An autosomal recessive severe 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. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy.
MalaCards based summary : Nemaline Myopathy 10, also known as nem10, is related to myopathy and nemaline myopathy, and has symptoms including generalized muscle weakness, ophthalmoplegia and facial paresis. An important gene associated with Nemaline Myopathy 10 is LMOD3 (Leiomodin 3). Affiliated tissues include skeletal muscle and bone, and related phenotypes are facial palsy and polyhydramnios Disease Ontology : 12 A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has material basis in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. OMIM : 56 Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014). Patients with a stable and much milder disease course have been described (Schatz et al., 2018). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). (616165) |
Human phenotypes related to Nemaline Myopathy 10:31 (show all 12)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616165UMLS symptoms related to Nemaline Myopathy 10:generalized muscle weakness, ophthalmoplegia, facial paresis |
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MalaCards organs/tissues related to Nemaline Myopathy 10:40
Skeletal Muscle,
Bone
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Articles related to Nemaline Myopathy 10:
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Genes related to Nemaline Myopathy 10 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Nemaline Myopathy 10:6 (show top 50) (show all 66)
UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 10:73
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Search
GEO
for disease gene expression data for Nemaline Myopathy 10.
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Cellular components related to Nemaline Myopathy 10 according to GeneCards Suite gene sharing:
Biological processes related to Nemaline Myopathy 10 according to GeneCards Suite gene sharing:
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