MCID: INT274
MIFTS: 27
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Intermediate Congenital Nemaline Myopathy
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Intermediate Congenital Nemaline Myopathy:
Name: Intermediate Congenital Nemaline Myopathy
19
Characteristics:Inheritance:
Intermediate Nemaline Myopathy:
Autosomal dominant,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
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GARD: 19 Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression. MalaCards based summary: Intermediate Congenital Nemaline Myopathy, also known as intermediate nemaline myopathy, is related to myopathy, congenital, with fiber-type disproportion and hypotonia. An important gene associated with Intermediate Congenital Nemaline Myopathy is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, and related phenotypes are nemaline bodies and severe muscular hypotonia Orphanet: 58 Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression. |
Human phenotypes related to Intermediate Congenital Nemaline Myopathy:58 30 (show all 30)
MGI Mouse Phenotypes related to Intermediate Congenital Nemaline Myopathy:45
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Organs/tissues related to Intermediate Congenital Nemaline Myopathy:
MalaCards :
Skeletal Muscle
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Search
GEO
for disease gene expression data for Intermediate Congenital Nemaline Myopathy.
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Cellular components related to Intermediate Congenital Nemaline Myopathy according to GeneCards Suite gene sharing:
Biological processes related to Intermediate Congenital Nemaline Myopathy according to GeneCards Suite gene sharing:
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