MCID: TYP026
MIFTS: 31

Typical Congenital Nemaline Myopathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Typical Congenital Nemaline Myopathy

MalaCards integrated aliases for Typical Congenital Nemaline Myopathy:

Name: Typical Congenital Nemaline Myopathy 52
Typical Nemaline Myopathy 52 58

Characteristics:

Orphanet epidemiological data:

58
typical nemaline myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Typical Congenital Nemaline Myopathy

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171436 Definition Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement. Epidemiology The annual incidence of NM has been estimated at 1/50,000 live births and the typical form to represent about 50% of all cases. Clinical description Disease onset is in the neonatal period. Patients have a long face, a high-arched palate and a tented upper lip. Skeletal anomalies may include kyphoscoliosis, pectus carinatum and pes cavus . In the first year of life, hypotonia and facial weakness are present and often contribute to failure to thrive and delayed motor development. Anti-gravity movements are present and respiratory muscle involvement is frequent. Nocturnal hypoxia and hypercarbia and lower respiratory tract infections are common manifestations. Joint hypermobility can be observed. In a minority of children weakness is more distal. Progression is very slow or absent and most patients are able to live an independent active life. Etiology Typical NM is caused by mutations of the ACTA1 (1q42.13), NEB (2q22) or TPM2 (9p13) genes , and disease transmission can be autosomal recessive or dominant. Visit the Orphanet disease page for more resources.

MalaCards based summary : Typical Congenital Nemaline Myopathy, also known as typical nemaline myopathy, is related to nemaline myopathy 3 and nemaline myopathy. An important gene associated with Typical Congenital Nemaline Myopathy is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways are Apoptosis and survival Caspase cascade and EPHA forward signaling. Affiliated tissues include skeletal muscle, and related phenotypes are neonatal hypotonia and high palate

Related Diseases for Typical Congenital Nemaline Myopathy

Graphical network of the top 20 diseases related to Typical Congenital Nemaline Myopathy:



Diseases related to Typical Congenital Nemaline Myopathy

Symptoms & Phenotypes for Typical Congenital Nemaline Myopathy

Human phenotypes related to Typical Congenital Nemaline Myopathy:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
2 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
3 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
4 type 1 muscle fiber predominance 58 31 frequent (33%) Frequent (79-30%) HP:0003803
5 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
6 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
7 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
8 axial muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003327
9 neck flexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003722
10 limb-girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003325
11 fatigable weakness of distal limb muscles 58 31 frequent (33%) Frequent (79-30%) HP:0030198
12 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
13 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
14 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
15 elevated serum creatine kinase 58 31 occasional (7.5%) Occasional (29-5%) HP:0003236
16 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
17 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
18 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
19 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
20 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
21 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
22 waddling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002515
23 spinal rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003306
24 nemaline bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003798
25 narrow face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000275
26 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
27 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
28 narrow chest 58 31 occasional (7.5%) Occasional (29-5%) HP:0000774
29 genu varum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002970
30 arthrogryposis multiplex congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0002804
31 hypokinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002375
32 fatigable weakness of respiratory muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030196
33 fatiguable weakness of proximal limb muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030200
34 facial diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001349
35 nocturnal hypoventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002877
36 kyphosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002808
37 flexion contracture 58 Occasional (29-5%)
38 gait disturbance 58 Frequent (79-30%)
39 facial palsy 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Typical Congenital Nemaline Myopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 ACTA1 CFL2 KLHL41 LMOD3 NEB
2 muscle MP:0005369 9.02 ACTA1 CFL2 KLHL41 LMOD3 NEB

Drugs & Therapeutics for Typical Congenital Nemaline Myopathy

Search Clinical Trials , NIH Clinical Center for Typical Congenital Nemaline Myopathy

Genetic Tests for Typical Congenital Nemaline Myopathy

Anatomical Context for Typical Congenital Nemaline Myopathy

MalaCards organs/tissues related to Typical Congenital Nemaline Myopathy:

40
Skeletal Muscle

Publications for Typical Congenital Nemaline Myopathy

Articles related to Typical Congenital Nemaline Myopathy:

# Title Authors PMID Year
1
Congenital myopathy caused by a novel missense mutation in the CFL2 gene. 6
22560515 2012
2
Clinical utility gene card for: nemaline myopathy. 6
22510848 2012
3
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. 6
17160903 2007
4
Nemaline Myopathy – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301465 2002
5
Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism. 61
32483185 2020
6
Sudden cardiac arrest in a child with nemaline myopathy. 61
25888334 2015
7
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. 61
19232495 2009
8
Plasma and muscle carnitine levels in haemodialysis patients with morphological-ultrastructural examination of muscle samples. 61
6646296 1983

Variations for Typical Congenital Nemaline Myopathy

Expression for Typical Congenital Nemaline Myopathy

Search GEO for disease gene expression data for Typical Congenital Nemaline Myopathy.

Pathways for Typical Congenital Nemaline Myopathy

Pathways related to Typical Congenital Nemaline Myopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.42 CFL2 ACTA1
2
Show member pathways
11.02 CFL2 ACTA1
3 10.66 TPM2 NEB ACTA1

GO Terms for Typical Congenital Nemaline Myopathy

Cellular components related to Typical Congenital Nemaline Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.91 TPM2 NEB LMOD3 KLHL41 CFL2 ACTA1
2 Z disc GO:0030018 9.46 NEB CFL2
3 actin filament GO:0005884 9.4 TPM2 ACTA1
4 sarcomere GO:0030017 9.37 NEB ACTA1
5 myofibril GO:0030016 9.32 NEB LMOD3
6 M band GO:0031430 9.26 LMOD3 KLHL41
7 actin cytoskeleton GO:0015629 9.26 TPM2 NEB CFL2 ACTA1
8 striated muscle thin filament GO:0005865 9.16 LMOD3 ACTA1
9 cytoskeleton GO:0005856 9.1 TPM2 NEB LMOD3 KLHL41 CFL2 ACTA1

Biological processes related to Typical Congenital Nemaline Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.5 TPM2 LMOD3 CFL2
2 sarcomere organization GO:0045214 9.43 KLHL41 CFL2
3 striated muscle contraction GO:0006941 9.4 LMOD3 KLHL41
4 myofibril assembly GO:0030239 9.37 LMOD3 KLHL41
5 muscle contraction GO:0006936 9.33 TPM2 LMOD3 ACTA1
6 skeletal muscle thin filament assembly GO:0030240 9.26 LMOD3 ACTA1
7 muscle filament sliding GO:0030049 9.13 TPM2 NEB ACTA1
8 skeletal muscle fiber development GO:0048741 8.8 LMOD3 KLHL41 ACTA1

Molecular functions related to Typical Congenital Nemaline Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.33 TPM2 NEB CFL2
2 structural constituent of muscle GO:0008307 8.96 TPM2 NEB
3 actin filament binding GO:0051015 8.8 TPM2 NEB CFL2

Sources for Typical Congenital Nemaline Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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