MCID: SVR040
MIFTS: 31
|
Severe Congenital Nemaline Myopathy
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
|
|
|
MalaCards integrated aliases for Severe Congenital Nemaline Myopathy:
Characteristics:Inheritance:
Autosomal recessive 58
Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases Anatomical: Neuronal diseases Muscle diseases Respiratory diseases Bone diseases
ICD10:
32
Orphanet: 58
![]() |
GARD: 19 Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates. MalaCards based summary: Severe Congenital Nemaline Myopathy, also known as severe congenital nm, is related to nemaline myopathy and respiratory failure. An important gene associated with Severe Congenital Nemaline Myopathy is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways is Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, and related phenotypes are dysphagia and skeletal muscle atrophy Orphanet: 58 Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates. |
Human phenotypes related to Severe Congenital Nemaline Myopathy:58 30 (show all 30)
|
|
Organs/tissues related to Severe Congenital Nemaline Myopathy:
MalaCards :
Skeletal Muscle
|
Articles related to Severe Congenital Nemaline Myopathy:
|
|
Search
GEO
for disease gene expression data for Severe Congenital Nemaline Myopathy.
|
Cellular components related to Severe Congenital Nemaline Myopathy according to GeneCards Suite gene sharing:
Biological processes related to Severe Congenital Nemaline Myopathy according to GeneCards Suite gene sharing:
|
|