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MCID: INT274
MIFTS: 32
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Intermediate Congenital Nemaline Myopathy
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Intermediate Congenital Nemaline Myopathy:
Name: Intermediate Congenital Nemaline Myopathy
53
Characteristics:Orphanet epidemiological data:59
intermediate nemaline myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: any age; Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases Anatomical: Neuronal diseases Muscle diseases Bone diseases
ICD10:
34
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171433Disease definitionIntermediate 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.EpidemiologyThe annual incidence of NM has been estimated at 1/50,000 live births, and intermediate NM might represent 20% of all cases.Clinical descriptionNeonates with intermediate NM present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalized weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures.EtiologyThe ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with intermediate NM and the transmission pattern of the disease is autosomal recessive or dominant.Visit the Orphanet disease page for more resources.
MalaCards based summary : Intermediate Congenital Nemaline Myopathy, also known as intermediate nemaline myopathy, is related to nemaline myopathy 2 and cap myopathy. An important gene associated with Intermediate Congenital Nemaline Myopathy is KLHL41 (Kelch Like Family Member 41), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include bone and skeletal muscle, and related phenotypes are hypertelorism and low-set ears |
Human phenotypes related to Intermediate Congenital Nemaline Myopathy:59 32 (show all 30)
MGI Mouse Phenotypes related to Intermediate Congenital Nemaline Myopathy:46
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MalaCards organs/tissues related to Intermediate Congenital Nemaline Myopathy:41
Bone,
Skeletal Muscle
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Genes related to Intermediate Congenital Nemaline Myopathy (4 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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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:
Molecular functions related to Intermediate Congenital Nemaline Myopathy according to GeneCards Suite gene sharing:
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