MCID: SVR040
MIFTS: 35

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 54 60
Severe Congenital Nm 54

Characteristics:

Orphanet epidemiological data:

60
severe congenital nemaline myopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Severe 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: 171430Disease definitionSevere congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.EpidemiologyThe 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 descriptionNeonates 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.EtiologyThe ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of NM.Genetic counselingNM 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 myopathy and nemaline myopathy. 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 bone, and related phenotypes are dysphagia and skeletal muscle atrophy

Related Diseases for Severe Congenital Nemaline Myopathy

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:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
2 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
3 motor delay 60 33 frequent (33%) Frequent (79-30%) HP:0001270
4 type 1 muscle fiber predominance 60 33 frequent (33%) Frequent (79-30%) HP:0003803
5 nemaline bodies 60 33 frequent (33%) Frequent (79-30%) HP:0003798
6 respiratory failure 60 33 frequent (33%) Frequent (79-30%) HP:0002878
7 polyhydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001561
8 decreased fetal movement 60 33 frequent (33%) Frequent (79-30%) HP:0001558
9 breech presentation 60 33 frequent (33%) Frequent (79-30%) HP:0001623
10 hypokinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002375
11 axial muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003327
12 multiple prenatal fractures 60 33 frequent (33%) Frequent (79-30%) HP:0005855
13 severe muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0006829
14 increased connective tissue 60 33 frequent (33%) Frequent (79-30%) HP:0009025
15 low-set ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000369
16 arthrogryposis multiplex congenita 60 33 occasional (7.5%) Occasional (29-5%) HP:0002804
17 ophthalmoplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000602
18 thin ribs 60 33 occasional (7.5%) Occasional (29-5%) HP:0000883
19 hypospadias 60 33 occasional (7.5%) Occasional (29-5%) HP:0000047
20 adducted thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0001181
21 large fontanelles 60 33 occasional (7.5%) Occasional (29-5%) HP:0000239
22 premature birth 60 33 occasional (7.5%) Occasional (29-5%) HP:0001622
23 micropenis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000054
24 abnormality of the diaphragm 60 33 occasional (7.5%) Occasional (29-5%) HP:0000775
25 facial diplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001349
26 pulmonary hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002089
27 edema of the dorsum of hands 60 33 occasional (7.5%) Occasional (29-5%) HP:0007514
28 facial palsy 60 Frequent (79-30%)
29 flexion contracture 60 Frequent (79-30%)
30 abnormality of the thorax 60 Frequent (79-30%)

MGI Mouse Phenotypes related to Severe Congenital Nemaline Myopathy:

47
# 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:

42
Skeletal Muscle, Bone

Publications for Severe Congenital Nemaline Myopathy

Articles related to Severe Congenital Nemaline Myopathy:

# Title Authors Year
1
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. ( 25890230 )
2015
2
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. ( 22407809 )
2012
3
Mutations in the nebulin gene can cause severe congenital nemaline myopathy. ( 12207937 )
2002
4
Severe congenital nemaline myopathy: a personal perspective. ( 9526359 )
1998
5
A new case of severe congenital nemaline myopathy. ( 8155933 )
1993
6
Intranuclear rods in severe congenital nemaline myopathy. ( 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 ACTA1 NEB

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 cytoplasm GO:0005737 9.85 ACTA1 KLHL40 KLHL41 LMOD3 NEB
2 cytoskeleton GO:0005856 9.62 ACTA1 KLHL41 LMOD3 NEB
3 actin cytoskeleton GO:0015629 9.43 ACTA1 NEB
4 sarcomere GO:0030017 9.4 ACTA1 NEB
5 myofibril GO:0030016 9.37 LMOD3 NEB
6 Cul3-RING ubiquitin ligase complex GO:0031463 9.26 KLHL40 KLHL41
7 M band GO:0031430 9.16 KLHL41 LMOD3
8 striated muscle thin filament GO:0005865 8.96 ACTA1 LMOD3
9 A band GO:0031672 8.62 KLHL40 LMOD3

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 ACTA1 LMOD3
2 muscle filament sliding GO:0030049 9.32 ACTA1 NEB
3 striated muscle contraction GO:0006941 9.26 KLHL41 LMOD3
4 skeletal muscle thin filament assembly GO:0030240 9.16 ACTA1 LMOD3
5 myofibril assembly GO:0030239 8.96 KLHL41 LMOD3
6 skeletal muscle fiber development GO:0048741 8.92 ACTA1 KLHL40 KLHL41 LMOD3

Sources for Severe Congenital Nemaline Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
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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