NEM4
MCID: NML005
MIFTS: 39
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Nemaline Myopathy 4 (NEM4)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Nemaline Myopathy 4:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
variable severity genetic heterogeneity (see ) childhood onset (range birth to 12 years) HPO:31
nemaline myopathy 4:
Inheritance autosomal dominant inheritance heterogeneous Onset and clinical course variable expressivity childhood onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Muscle diseases Neuronal diseases Bone diseases |
UniProtKB/Swiss-Prot :
73
Cap myopathy 2: A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and non-progressive or slowly progressive muscle weakness. Respiratory problems are common.
Nemaline myopathy 4: 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. Nemaline myopathy type 4 presents from infancy to childhood with hypotonia and moderate-to-severe proximal weakness with minimal or no progression. Major motor milestones are delayed but independent ambulation is usually achieved, although a wheelchair may be needed in later life. MalaCards based summary : Nemaline Myopathy 4, also known as cap myopathy 2, is related to nemaline myopathy and myopathy, and has symptoms including waddling gait An important gene associated with Nemaline Myopathy 4 is TPM2 (Tropomyosin 2). The drugs Anti-Bacterial Agents and Antibiotics, Antitubercular have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are muscular hypotonia and flexion contracture Disease Ontology : 12 A nemaline myopathy that has material basis in heterozygous mutation in the TPM2 gene on chromosome 9p13. Wikipedia : 74 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more... |
Human phenotypes related to Nemaline Myopathy 4:31 (show all 20)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:609285UMLS symptoms related to Nemaline Myopathy 4:waddling gait |
Drugs for Nemaline Myopathy 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Nemaline Myopathy 4:40
Skeletal Muscle
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Articles related to Nemaline Myopathy 4:(show all 11)
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ClinVar genetic disease variations for Nemaline Myopathy 4:6 (show all 34)
UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 4:73
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Search
GEO
for disease gene expression data for Nemaline Myopathy 4.
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Cellular components related to Nemaline Myopathy 4 according to GeneCards Suite gene sharing:
Biological processes related to Nemaline Myopathy 4 according to GeneCards Suite gene sharing:
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