MCID: SVR040
MIFTS: 31

Severe Congenital Nemaline Myopathy

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Severe Congenital Nemaline Myopathy

MalaCards integrated aliases for Severe Congenital Nemaline Myopathy:

Name: Severe Congenital Nemaline Myopathy 19 58
Severe Congenital Nm 19

Characteristics:


Inheritance:

Autosomal recessive 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Severe Congenital Nemaline Myopathy

GARD: 19 Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

MalaCards based summary: Severe Congenital Nemaline Myopathy, also known as severe congenital nm, is related to nemaline myopathy and respiratory failure. An important gene associated with Severe Congenital Nemaline Myopathy is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways is Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, and related phenotypes are dysphagia and skeletal muscle atrophy

Orphanet: 58 Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

Related Diseases for Severe Congenital Nemaline Myopathy

Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 3 Nemaline Myopathy 2
Nemaline Myopathy 5 Nemaline Myopathy 6
Nemaline Myopathy 1 Nemaline Myopathy 4
Nemaline Myopathy 7 Nemaline Myopathy 8
Nemaline Myopathy 9 Nemaline Myopathy 10
Nemaline Myopathy 11, Autosomal Recessive Adult-Onset Nemaline Myopathy
Intermediate Congenital Nemaline Myopathy Severe Congenital Nemaline Myopathy
Congenital Nemaline Myopathy

Diseases related to Severe Congenital Nemaline Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 30.4 NEB KLHL41 ACTA1
2 respiratory failure 29.8 LMOD3 KLHL40 ACTA1
3 neuromuscular disease 29.7 NEB KLHL40 ACTA1
4 myopathy 29.3 NEB LMOD3 KLHL41 KLHL40 ACTA1
5 nemaline myopathy 2 28.7 NEB LMOD3 KLHL41 KLHL40 ACTA1
6 batten-turner congenital myopathy 28.7 NEB LMOD3 KLHL41 KLHL40 ACTA1
7 distal arthrogryposis 28.7 NEB LMOD3 KLHL41 KLHL40 ACTA1
8 congenital nemaline myopathy 10.5
9 hypotonia 10.2
10 nemaline myopathy 3 10.1
11 minicore myopathy with external ophthalmoplegia 10.1
12 arthrogryposis multiplex congenita 6 10.1
13 muscular disease 10.1
14 muscular dystrophy 10.1
15 lymphangiectasis 10.1
16 hyaline body myopathy 10.0 NEB ACTA1
17 myopathy, distal, 1 9.9 NEB ACTA1
18 central core disease of muscle 9.9 NEB ACTA1
19 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.9 NEB ACTA1
20 multiminicore disease 9.9 NEB ACTA1
21 cardiomyopathy, dilated, 1ff 9.8 LMOD3 ACTA1
22 cardiomyopathy, dilated, 2a 9.8 LMOD3 ACTA1
23 rigid spine muscular dystrophy 1 9.8 NEB ACTA1
24 nemaline myopathy 11, autosomal recessive 9.8 LMOD3 KLHL40
25 neuronopathy, distal hereditary motor, type iia 9.8 LMOD3 KLHL40
26 locked-in syndrome 9.8 LMOD3 KLHL40
27 nemaline myopathy 5 9.8 NEB LMOD3
28 fetal akinesia deformation sequence 1 9.8 KLHL40 ACTA1
29 myopathy, spheroid body 9.8 NEB LMOD3
30 centronuclear myopathy 9.7 NEB KLHL40 ACTA1
31 myofibrillar myopathy 9.7 NEB KLHL40 ACTA1
32 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 9.7 LMOD3 ACTA1
33 congenital myasthenic syndrome 9.7 NEB KLHL40 ACTA1
34 intermediate congenital nemaline myopathy 9.7 NEB KLHL41 ACTA1
35 childhood-onset nemaline myopathy 9.7 NEB KLHL41 ACTA1
36 distal hereditary motor neuronopathy type 2 9.7 LMOD3 KLHL40
37 limb-girdle muscular dystrophy 9.7 NEB ACTA1
38 myopathy, centronuclear, 1 9.6 LMOD3 KLHL40 ACTA1
39 spinal muscular atrophy type 0 9.5 LMOD3 KLHL41 KLHL40
40 nemaline myopathy 9 9.5 LMOD3 KLHL41 KLHL40
41 nemaline myopathy 10 9.5 LMOD3 KLHL41 KLHL40
42 typical congenital nemaline myopathy 9.3 NEB LMOD3 KLHL41 ACTA1
43 nemaline myopathy 8 9.3 NEB LMOD3 KLHL41 KLHL40
44 multiple pterygium syndrome, escobar variant 9.2 NEB LMOD3 KLHL41 KLHL40
45 congenital structural myopathy 9.0 NEB LMOD3 KLHL41 KLHL40 ACTA1
46 congenital fiber-type disproportion 9.0 NEB LMOD3 KLHL41 KLHL40 ACTA1

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



Diseases related to Severe Congenital Nemaline Myopathy

Symptoms & Phenotypes for Severe Congenital Nemaline Myopathy

Human phenotypes related to Severe Congenital Nemaline Myopathy:

58 30 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002015
2 skeletal muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003202
3 motor delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001270
4 type 1 muscle fiber predominance 58 30 Frequent (33%) Frequent (79-30%)
HP:0003803
5 nemaline bodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0003798
6 polyhydramnios 58 30 Frequent (33%) Frequent (79-30%)
HP:0001561
7 decreased fetal movement 58 30 Frequent (33%) Frequent (79-30%)
HP:0001558
8 severe muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0006829
9 respiratory failure 58 30 Frequent (33%) Frequent (79-30%)
HP:0002878
10 axial muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0003327
11 hypokinesia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002375
12 breech presentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001623
13 increased connective tissue 58 30 Frequent (33%) Frequent (79-30%)
HP:0009025
14 multiple prenatal fractures 58 30 Frequent (33%) Frequent (79-30%)
HP:0005855
15 low-set ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000369
16 ophthalmoplegia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000602
17 micropenis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000054
18 hypospadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000047
19 adducted thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001181
20 large fontanelles 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000239
21 arthrogryposis multiplex congenita 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002804
22 premature birth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001622
23 pulmonary hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002089
24 thin ribs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000883
25 edema of the dorsum of hands 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007514
26 facial diplegia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001349
27 abnormality of the diaphragm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000775
28 facial palsy 58 Frequent (79-30%)
29 flexion contracture 58 Frequent (79-30%)
30 abnormality of the thorax 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Severe Congenital Nemaline Myopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.35 ACTA1 KLHL40 KLHL41 LMOD3 NEB
2 growth/size/body region MP:0005378 9.02 ACTA1 KLHL40 KLHL41 LMOD3 NEB

Drugs & Therapeutics for Severe Congenital Nemaline Myopathy

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

Genetic Tests for Severe Congenital Nemaline Myopathy

Anatomical Context for Severe Congenital Nemaline Myopathy

Organs/tissues related to Severe Congenital Nemaline Myopathy:

MalaCards : Skeletal Muscle

Publications for Severe Congenital Nemaline Myopathy

Articles related to Severe Congenital Nemaline Myopathy:

# Title Authors PMID Year
1
[Clinical features and gene mutation analysis of severe congenital nemaline myopathy in one neonate]. 62
31104670 2019
2
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. 62
29266598 2018
3
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. 62
25890230 2015
4
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. 62
22407809 2012
5
Mutations in the nebulin gene can cause severe congenital nemaline myopathy. 62
12207937 2002
6
Severe congenital nemaline myopathy: a personal perspective. 62
9526359 1998
7
A new case of severe congenital nemaline myopathy. 62
8155933 1993
8
Intranuclear rods in severe congenital nemaline myopathy. 62
8232959 1993

Variations for Severe Congenital Nemaline Myopathy

Expression for Severe Congenital Nemaline Myopathy

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

Pathways for Severe Congenital Nemaline Myopathy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.49 NEB ACTA1

GO Terms for Severe Congenital Nemaline Myopathy

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 NEB LMOD3 KLHL41 ACTA1
2 Cul3-RING ubiquitin ligase complex GO:0031463 9.56 KLHL41 KLHL40
3 sarcomere GO:0030017 9.54 NEB ACTA1
4 M band GO:0031430 9.46 LMOD3 KLHL41
5 A band GO:0031672 9.13 LMOD3 KLHL40
6 striated muscle thin filament GO:0005865 8.92 LMOD3 ACTA1

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.62 LMOD3 ACTA1
2 striated muscle contraction GO:0006941 9.56 LMOD3 KLHL41
3 myofibril assembly GO:0030239 9.46 LMOD3 KLHL41
4 skeletal muscle thin filament assembly GO:0030240 9.26 LMOD3 ACTA1
5 skeletal muscle fiber development GO:0048741 9.23 LMOD3 KLHL41 KLHL40 ACTA1

Sources for Severe Congenital Nemaline Myopathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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