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NEM6
MCID: NML007
MIFTS: 30
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Nemaline Myopathy 6 (NEM6)
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 6:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
slow progression onset in early childhood
Inheritance:
autosomal dominant HPO:31
nemaline myopathy 6:
Inheritance autosomal dominant inheritance Onset and clinical course slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Muscle diseases Neuronal diseases Respiratory diseases Bone diseases |
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OMIM® :
57
Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement (summary by Sambuughin et al., 2010). (609273) (Updated 05-Mar-2021)
MalaCards based summary : Nemaline Myopathy 6, also known as nemaline myopathy 6, autosomal dominant, is related to nemaline myopathy and myopathy, and has symptoms including muscular stiffness An important gene associated with Nemaline Myopathy 6 is KBTBD13 (Kelch Repeat And BTB Domain Containing 13). Affiliated tissues include skeletal muscle, and related phenotypes are gait disturbance and myopathy Disease Ontology : 12 A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has material basis in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. UniProtKB/Swiss-Prot : 73 Nemaline myopathy 6: A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. |
Diseases in the Nemaline Myopathy family:Diseases related to Nemaline Myopathy 6 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Nemaline Myopathy 6:31 (show all 9)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:609273 (Updated 05-Mar-2021)UMLS symptoms related to Nemaline Myopathy 6:muscular stiffness |
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MalaCards organs/tissues related to Nemaline Myopathy 6:40
Skeletal Muscle
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Articles related to Nemaline Myopathy 6:
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Genes related to Nemaline Myopathy 6 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Nemaline Myopathy 6:6 (show top 50) (show all 203)
UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 6:73
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Search
GEO
for disease gene expression data for Nemaline Myopathy 6.
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