|
NEM7
MCID: NML010
MIFTS: 38
|
Nemaline Myopathy 7 (NEM7)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Nemaline Myopathy 7:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
slowly progressive onset in early childhood two unrelated families have been reported (last curated august 2013) HPO:31
nemaline myopathy 7:
Inheritance autosomal recessive inheritance Onset and clinical course slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Muscle diseases Neuronal diseases Bone diseases |
|
OMIM :
56
Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by Ockeloen et al., 2012).
For a discussion of genetic heterogeneity of nemaline myopathy, see 161800. (610687)
MalaCards based summary : Nemaline Myopathy 7, also known as nemaline myopathy 7, autosomal recessive, is related to congenital structural myopathy and congenital fiber-type disproportion. An important gene associated with Nemaline Myopathy 7 is CFL2 (Cofilin 2), and among its related pathways/superpathways are Metabolism of nucleotides and Gap junction. Affiliated tissues include skeletal muscle and bone, and related phenotypes are respiratory insufficiency due to muscle weakness and gait disturbance Disease Ontology : 12 A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has material basis in homozygous mutation in the CFL2 gene on chromosome 14q13. UniProtKB/Swiss-Prot : 73 Nemaline myopathy 7: 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 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved. |
Diseases in the Nemaline Myopathy family:Diseases related to Nemaline Myopathy 7 via text searches within MalaCards or GeneCards Suite gene sharing:
|
Human phenotypes related to Nemaline Myopathy 7:31 (show all 14)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:610687 |
|
|
MalaCards organs/tissues related to Nemaline Myopathy 7:40
Skeletal Muscle,
Bone
|
Articles related to Nemaline Myopathy 7:
|
Genes related to Nemaline Myopathy 7 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Nemaline Myopathy 7:6 (show all 13)
UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 7:73
|
|
Search
GEO
for disease gene expression data for Nemaline Myopathy 7.
|
Pathways related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:(show all 12)
|
Cellular components related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:
Biological processes related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:(show all 17)
Molecular functions related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:
|
|