MCID: SVR040
MIFTS: 36

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 53 59
Severe Congenital Nm 53

Characteristics:

Orphanet epidemiological data:

59
severe congenital nemaline myopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Severe 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: 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 bone and skeletal muscle, and related phenotypes are low-set ears and dysphagia

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:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
2 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
3 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
4 arthrogryposis multiplex congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0002804
5 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
6 nemaline bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003798
7 type 1 muscle fiber predominance 59 32 frequent (33%) Frequent (79-30%) HP:0003803
8 thin ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000883
9 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
10 respiratory failure 59 32 frequent (33%) Frequent (79-30%) HP:0002878
11 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
12 adducted thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001181
13 large fontanelles 59 32 occasional (7.5%) Occasional (29-5%) HP:0000239
14 decreased fetal movement 59 32 frequent (33%) Frequent (79-30%) HP:0001558
15 hypokinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002375
16 increased connective tissue 59 32 frequent (33%) Frequent (79-30%) HP:0009025
17 premature birth 59 32 occasional (7.5%) Occasional (29-5%) HP:0001622
18 breech presentation 59 32 frequent (33%) Frequent (79-30%) HP:0001623
19 axial muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003327
20 multiple prenatal fractures 59 32 frequent (33%) Frequent (79-30%) HP:0005855
21 severe muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0006829
22 micropenis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000054
23 ophthalmoplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000602
24 abnormality of the diaphragm 59 32 occasional (7.5%) Occasional (29-5%) HP:0000775
25 facial diplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001349
26 pulmonary hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002089
27 edema of the dorsum of hands 59 32 occasional (7.5%) Occasional (29-5%) HP:0007514
28 facial palsy 59 Frequent (79-30%)
29 flexion contracture 59 Frequent (79-30%)
30 abnormality of the thorax 59 Frequent (79-30%)

MGI Mouse Phenotypes related to Severe Congenital Nemaline Myopathy:

46
# 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:

41
Bone, Skeletal Muscle

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
Intranuclear rods in severe congenital nemaline myopathy. ( 8232959 )
1993
6
A new case of severe congenital nemaline myopathy. ( 8155933 )
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 9.67 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 9.32 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 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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
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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