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NEM8
MCID: NML025
MIFTS: 36
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Nemaline Myopathy 8 (NEM8)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Nemaline Myopathy 8:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in utero severe phenotype death often occurs in infancy HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Muscle diseases Bone diseases Neuronal diseases |
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UniProtKB/Swiss-Prot :
73
Nemaline myopathy 8: A 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. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils.
MalaCards based summary : Nemaline Myopathy 8, also known as nemaline myopathy 8, autosomal recessive, is related to respiratory failure and nemaline myopathy. An important gene associated with Nemaline Myopathy 8 is KLHL40 (Kelch Like Family Member 40). Affiliated tissues include skeletal muscle, and related phenotypes are flexion contracture and dysphagia Disease Ontology : 12 A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has material basis in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. OMIM : 56 Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by Ravenscroft et al., 2013). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). (615348) |
Human phenotypes related to Nemaline Myopathy 8:31 (show all 10)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615348 |
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MalaCards organs/tissues related to Nemaline Myopathy 8:40
Skeletal Muscle
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Articles related to Nemaline Myopathy 8:
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Genes related to Nemaline Myopathy 8 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Nemaline Myopathy 8:6 (show top 50) (show all 124)
UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 8:73 (show all 13)
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Search
GEO
for disease gene expression data for Nemaline Myopathy 8.
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Cellular components related to Nemaline Myopathy 8 according to GeneCards Suite gene sharing:
Biological processes related to Nemaline Myopathy 8 according to GeneCards Suite gene sharing:
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