MCID: TYP026
MIFTS: 32

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 53
Typical Nemaline Myopathy 53 59

Characteristics:

Orphanet epidemiological data:

59
typical nemaline myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Typical Congenital Nemaline Myopathy

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171436Disease definitionTypical 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.EpidemiologyThe 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 descriptionDisease 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.EtiologyTypical 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 foot drop. An important gene associated with Typical Congenital Nemaline Myopathy is LMOD3 (Leiomodin 3), and among its related pathways/superpathways are EPHA forward signaling and Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are short neck and pectus excavatum

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:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
2 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
3 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
4 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
5 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
6 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
7 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
8 kyphosis 59 32 very rare (1%) Very rare (<4-1%) HP:0002808
9 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
10 neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001319
11 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
12 elevated serum creatine phosphokinase 59 32 occasional (7.5%) Occasional (29-5%) HP:0003236
13 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
14 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
15 narrow chest 59 32 occasional (7.5%) Occasional (29-5%) HP:0000774
16 waddling gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002515
17 spinal rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0003306
18 arthrogryposis multiplex congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0002804
19 nemaline bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0003798
20 type 1 muscle fiber predominance 59 32 frequent (33%) Frequent (79-30%) HP:0003803
21 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
22 narrow face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000275
23 fatigable weakness of respiratory muscles 59 32 occasional (7.5%) Occasional (29-5%) HP:0030196
24 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
25 genu varum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002970
26 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
27 hypokinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002375
28 axial muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003327
29 facial diplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001349
30 limb-girdle muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003325
31 increased variability in muscle fiber diameter 59 32 frequent (33%) Frequent (79-30%) HP:0003557
32 neck flexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003722
33 foot dorsiflexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009027
34 fatigable weakness of distal limb muscles 59 32 frequent (33%) Frequent (79-30%) HP:0030198
35 nocturnal hypoventilation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002877
36 fatiguable weakness of proximal limb muscles 59 32 occasional (7.5%) Occasional (29-5%) HP:0030200
37 gait disturbance 59 Frequent (79-30%)
38 facial palsy 59 Frequent (79-30%)
39 flexion contracture 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Typical Congenital Nemaline Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 ACTA1 CFL2 KLHL41 LMOD3 NEB
2 growth/size/body region MP:0005378 9.35 ACTA1 CFL2 KLHL41 LMOD3 NEB
3 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:

41
Skeletal Muscle

Publications for Typical Congenital Nemaline Myopathy

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
11.02 ACTA1 CFL2
2 10.66 ACTA1 NEB TPM2

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 ACTA1 CFL2 KLHL41 LMOD3 NEB TPM2
2 Z disc GO:0030018 9.46 CFL2 NEB
3 actin filament GO:0005884 9.4 ACTA1 TPM2
4 sarcomere GO:0030017 9.37 ACTA1 NEB
5 myofibril GO:0030016 9.32 LMOD3 NEB
6 M band GO:0031430 9.26 KLHL41 LMOD3
7 actin cytoskeleton GO:0015629 9.26 ACTA1 CFL2 NEB TPM2
8 striated muscle thin filament GO:0005865 9.16 ACTA1 LMOD3
9 cytoskeleton GO:0005856 9.1 ACTA1 CFL2 KLHL41 LMOD3 NEB TPM2

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 9.43 CFL2 TPM2
2 sarcomere organization GO:0045214 9.4 CFL2 KLHL41
3 striated muscle contraction GO:0006941 9.37 KLHL41 LMOD3
4 muscle contraction GO:0006936 9.33 ACTA1 LMOD3 TPM2
5 skeletal muscle thin filament assembly GO:0030240 9.32 ACTA1 LMOD3
6 myofibril assembly GO:0030239 9.26 KLHL41 LMOD3
7 muscle filament sliding GO:0030049 9.13 ACTA1 NEB TPM2
8 skeletal muscle fiber development GO:0048741 8.8 ACTA1 KLHL41 LMOD3

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

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

Sources for Typical Congenital Nemaline Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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