MCID: SVR040
MIFTS: 31

Severe Congenital Nemaline Myopathy

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Severe Congenital Nemaline Myopathy

MalaCards integrated aliases for Severe Congenital Nemaline Myopathy:

Name: Severe Congenital Nemaline Myopathy 52 58
Severe Congenital Nm 52

Characteristics:

Orphanet epidemiological data:

58
severe congenital nemaline myopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Severe 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: 171430 Definition 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. Epidemiology The annual incidence of NM has been estimated at 1/50,000 live births and the severe congenital form might represent 10-20% of all cases. Clinical description Neonates have sucking and swallowing difficulties, and gastroesophageal reflux, which leads to failure to thrive. Involvement of diaphragm and intercostal muscles contributes to respiratory insufficiency. Cardiomyopathy and arthrogryposis may occur. Survival after infancy is rare. Etiology The ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of NM. Genetic counseling NM is transmitted in an autosomal recessive fashion or occurs sporadically. Visit the Orphanet disease page for more resources.

MalaCards based summary : Severe Congenital Nemaline Myopathy, also known as severe congenital nm, is related to nemaline myopathy and myopathy, congenital. An important gene associated with Severe Congenital Nemaline Myopathy is NEB (Nebulin), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are dysphagia and skeletal muscle atrophy

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 35)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 29.9 NEB KLHL41 ACTA1
2 myopathy, congenital 29.8 NEB ACTA1
3 nemaline myopathy 2 29.2 NEB LMOD3 KLHL41
4 myopathy 28.6 NEB LMOD3 KLHL41 KLHL40 ACTA1
5 nemaline myopathy 3 27.9 NEB LMOD3 KLHL41 KLHL40 ACTA1
6 congenital nemaline myopathy 10.5
7 hypotonia 10.2
8 minicore myopathy with external ophthalmoplegia 10.1
9 alkuraya-kucinskas syndrome 10.1
10 muscular disease 10.1
11 neuromuscular disease 10.1
12 muscular dystrophy 10.1
13 lymphangiectasis 10.1
14 congenital amyoplasia 10.1
15 foot drop 9.9 NEB ACTA1
16 myopathy, spheroid body 9.9 NEB LMOD3
17 hyaline body myopathy 9.9 NEB ACTA1
18 reducing body myopathy 1a 9.8 NEB KLHL40
19 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.8 NEB ACTA1
20 nemaline myopathy 8 9.8 LMOD3 KLHL40
21 myofibrillar myopathy 9.7 NEB ACTA1
22 nemaline myopathy 4 9.7 LMOD3 KLHL41
23 fetal akinesia deformation sequence 1 9.5 KLHL40 ACTA1
24 distal arthrogryposis 9.5 NEB ACTA1
25 central core myopathy 9.5 NEB KLHL40 ACTA1
26 centronuclear myopathy 9.5 NEB KLHL40 ACTA1
27 intermediate congenital nemaline myopathy 9.4 NEB KLHL41 ACTA1
28 childhood-onset nemaline myopathy 9.4 NEB KLHL41 ACTA1
29 respiratory failure 9.3 LMOD3 KLHL40 ACTA1
30 nemaline myopathy 9 9.2 LMOD3 KLHL41 KLHL40
31 nemaline myopathy 10 9.2 LMOD3 KLHL41 KLHL40
32 typical congenital nemaline myopathy 9.0 NEB LMOD3 KLHL41 ACTA1
33 multiple pterygium syndrome, escobar variant 8.9 NEB LMOD3 KLHL41 KLHL40
34 congenital structural myopathy 8.5 NEB LMOD3 KLHL41 KLHL40 ACTA1
35 congenital fiber-type disproportion 8.5 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 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
2 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
3 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
4 type 1 muscle fiber predominance 58 31 frequent (33%) Frequent (79-30%) HP:0003803
5 nemaline bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003798
6 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
7 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%) HP:0001558
8 severe muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0006829
9 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
10 hypokinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002375
11 axial muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003327
12 breech presentation 58 31 frequent (33%) Frequent (79-30%) HP:0001623
13 increased connective tissue 58 31 frequent (33%) Frequent (79-30%) HP:0009025
14 multiple prenatal fractures 58 31 frequent (33%) Frequent (79-30%) HP:0005855
15 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
16 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
17 micropenis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000054
18 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
19 adducted thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001181
20 large fontanelles 58 31 occasional (7.5%) Occasional (29-5%) HP:0000239
21 arthrogryposis multiplex congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0002804
22 premature birth 58 31 occasional (7.5%) Occasional (29-5%) HP:0001622
23 pulmonary hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002089
24 thin ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000883
25 edema of the dorsum of hands 58 31 occasional (7.5%) Occasional (29-5%) HP:0007514
26 facial diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001349
27 abnormality of the diaphragm 58 31 occasional (7.5%) Occasional (29-5%) HP:0000775
28 flexion contracture 58 Frequent (79-30%)
29 facial palsy 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 growth/size/body region MP:0005378 9.35 ACTA1 KLHL40 KLHL41 LMOD3 NEB
2 muscle MP:0005369 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

MalaCards organs/tissues related to Severe Congenital Nemaline Myopathy:

40
Skeletal Muscle

Publications for Severe Congenital Nemaline Myopathy

Articles related to Severe Congenital Nemaline Myopathy:

# Title Authors PMID Year
1
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. 6
23746549 2013
2
Nemaline Myopathy – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301465 2002
3
[Clinical features and gene mutation analysis of severe congenital nemaline myopathy in one neonate]. 61
31104670 2019
4
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. 61
29266598 2018
5
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. 61
25890230 2015
6
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. 61
22407809 2012
7
Mutations in the nebulin gene can cause severe congenital nemaline myopathy. 61
12207937 2002
8
Severe congenital nemaline myopathy: a personal perspective. 61
9526359 1998
9
A new case of severe congenital nemaline myopathy. 61
8155933 1993
10
Intranuclear rods in severe congenital nemaline myopathy. 61
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 10.48 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 9.67 NEB LMOD3 KLHL41 ACTA1
2 sarcomere GO:0030017 9.4 NEB ACTA1
3 myofibril GO:0030016 9.32 NEB LMOD3
4 Cul3-RING ubiquitin ligase complex GO:0031463 9.26 KLHL41 KLHL40
5 M band GO:0031430 9.16 LMOD3 KLHL41
6 A band GO:0031672 8.96 LMOD3 KLHL40
7 striated muscle thin filament GO:0005865 8.62 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 9.37 LMOD3 ACTA1
2 muscle filament sliding GO:0030049 9.32 NEB ACTA1
3 striated muscle contraction GO:0006941 9.26 LMOD3 KLHL41
4 myofibril assembly GO:0030239 9.16 LMOD3 KLHL41
5 skeletal muscle thin filament assembly GO:0030240 8.96 LMOD3 ACTA1
6 skeletal muscle fiber development GO:0048741 8.92 LMOD3 KLHL41 KLHL40 ACTA1

Sources for Severe 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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