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 54
Typical Nemaline Myopathy 54 60

Characteristics:

Orphanet epidemiological data:

60
typical nemaline myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Typical Congenital Nemaline Myopathy

NIH Rare Diseases : 54 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 high palate and respiratory insufficiency

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:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
2 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
3 neonatal hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001319
4 type 1 muscle fiber predominance 60 33 frequent (33%) Frequent (79-30%) HP:0003803
5 hyporeflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001265
6 axial muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003327
7 limb-girdle muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003325
8 increased variability in muscle fiber diameter 60 33 frequent (33%) Frequent (79-30%) HP:0003557
9 neck flexor weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003722
10 foot dorsiflexor weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009027
11 fatigable weakness of distal limb muscles 60 33 frequent (33%) Frequent (79-30%) HP:0030198
12 short neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000470
13 pectus excavatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000767
14 genu valgum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002857
15 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
16 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
17 hyperlordosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003307
18 myopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003198
19 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
20 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
21 narrow chest 60 33 occasional (7.5%) Occasional (29-5%) HP:0000774
22 waddling gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0002515
23 spinal rigidity 60 33 occasional (7.5%) Occasional (29-5%) HP:0003306
24 arthrogryposis multiplex congenita 60 33 occasional (7.5%) Occasional (29-5%) HP:0002804
25 nemaline bodies 60 33 occasional (7.5%) Occasional (29-5%) HP:0003798
26 hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002827
27 narrow face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000275
28 fatigable weakness of respiratory muscles 60 33 occasional (7.5%) Occasional (29-5%) HP:0030196
29 polyhydramnios 60 33 occasional (7.5%) Occasional (29-5%) HP:0001561
30 genu varum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002970
31 hypokinesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002375
32 facial diplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001349
33 nocturnal hypoventilation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002877
34 fatiguable weakness of proximal limb muscles 60 33 occasional (7.5%) Occasional (29-5%) HP:0030200
35 elevated serum creatine kinase 33 occasional (7.5%) HP:0003236
36 kyphosis 60 33 very rare (1%) Very rare (<4-1%) HP:0002808
37 gait disturbance 60 Frequent (79-30%)
38 facial palsy 60 Frequent (79-30%)
39 flexion contracture 60 Occasional (29-5%)
40 elevated serum creatine phosphokinase 60 Occasional (29-5%)

MGI Mouse Phenotypes related to Typical Congenital Nemaline Myopathy:

47
# 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:

42
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

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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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33 HPO
34 ICD10
35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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