MCID: INT274
MIFTS: 30

Intermediate Congenital Nemaline Myopathy

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

Aliases & Classifications for Intermediate Congenital Nemaline Myopathy

MalaCards integrated aliases for Intermediate Congenital Nemaline Myopathy:

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

Characteristics:

Orphanet epidemiological data:

58
intermediate nemaline myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Intermediate 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: 171433 Definition Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression. Epidemiology The annual incidence of NM has been estimated at 1/50,000 live births, and intermediate NM might represent 20% of all cases. Clinical description Neonates with intermediate NM present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalized weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures . Etiology The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with intermediate NM and the transmission pattern of the disease is autosomal recessive or dominant. Visit the Orphanet disease page for more resources.

MalaCards based summary : Intermediate Congenital Nemaline Myopathy, also known as intermediate nemaline myopathy, is related to cap myopathy and myopathy, congenital, with fiber-type disproportion. An important gene associated with Intermediate Congenital Nemaline Myopathy is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are generalized muscle weakness and nemaline bodies

Related Diseases for Intermediate 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 Intermediate Congenital Nemaline Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 cap myopathy 9.9 TPM3 ACTA1
2 myopathy, congenital, with fiber-type disproportion 9.8 TPM3 ACTA1
3 arthrogryposis, distal, type 1a 9.7 TPM3 ACTA1
4 foot drop 9.7 NEB ACTA1
5 central core myopathy 9.6 NEB ACTA1
6 nemaline myopathy 2 9.6 NEB KLHL41
7 centronuclear myopathy 9.6 NEB ACTA1
8 myofibrillar myopathy 9.5 NEB ACTA1
9 multiple pterygium syndrome, escobar variant 9.5 NEB KLHL41
10 distal arthrogryposis 9.4 NEB ACTA1
11 hyaline body myopathy 9.3 TPM3 NEB ACTA1
12 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.3 TPM3 NEB ACTA1
13 myopathy, congenital 9.3 TPM3 NEB ACTA1
14 typical congenital nemaline myopathy 9.2 NEB KLHL41 ACTA1
15 neuromuscular disease 9.2 NEB ACTA1
16 severe congenital nemaline myopathy 9.2 NEB KLHL41 ACTA1
17 nemaline myopathy 3 9.2 NEB KLHL41 ACTA1
18 nemaline myopathy 8.9 TPM3 NEB KLHL41 ACTA1
19 myopathy 8.9 TPM3 NEB KLHL41 ACTA1
20 childhood-onset nemaline myopathy 8.9 TPM3 NEB KLHL41 ACTA1
21 congenital structural myopathy 8.9 TPM3 NEB KLHL41 ACTA1
22 congenital fiber-type disproportion 8.8 TPM3 NEB KLHL41 ACTA1

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



Diseases related to Intermediate Congenital Nemaline Myopathy

Symptoms & Phenotypes for Intermediate Congenital Nemaline Myopathy

Human phenotypes related to Intermediate Congenital Nemaline Myopathy:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003324
2 nemaline bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003798
3 severe muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0006829
4 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
5 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
6 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
7 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
8 type 1 muscle fiber predominance 58 31 frequent (33%) Frequent (79-30%) HP:0003803
9 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
10 abnormality of the thorax 58 31 frequent (33%) Frequent (79-30%) HP:0000765
11 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%) HP:0001558
12 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
13 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
14 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
15 hypokinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002375
16 myopathic facies 58 31 frequent (33%) Frequent (79-30%) HP:0002058
17 multiple prenatal fractures 58 31 frequent (33%) Frequent (79-30%) HP:0005855
18 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
19 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
20 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
21 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
22 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
23 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
24 premature birth 58 31 occasional (7.5%) Occasional (29-5%) HP:0001622
25 facial diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001349
26 arthrogryposis multiplex congenita 58 31 very rare (1%) Very rare (<4-1%) HP:0002804
27 flexion contracture 58 Frequent (79-30%)
28 facial palsy 58 Frequent (79-30%)
29 cardiomyopathy 58 Excluded (0%)

MGI Mouse Phenotypes related to Intermediate Congenital Nemaline Myopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 ACTA1 KLHL41 NEB TPM3

Drugs & Therapeutics for Intermediate Congenital Nemaline Myopathy

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

Genetic Tests for Intermediate Congenital Nemaline Myopathy

Anatomical Context for Intermediate Congenital Nemaline Myopathy

MalaCards organs/tissues related to Intermediate Congenital Nemaline Myopathy:

40
Skeletal Muscle

Publications for Intermediate Congenital Nemaline Myopathy

Articles related to Intermediate Congenital Nemaline Myopathy:

(show all 13)
# Title Authors PMID Year
1
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. 6
26418456 2015
2
Clinical utility gene card for: nemaline myopathy. 6
22510848 2012
3
A TPM3 mutation causing cap myopathy. 6
19553118 2009
4
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. 6
18382475 2008
5
Mutations in TPM3 are a common cause of congenital fiber type disproportion. 6
18300303 2008
6
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. 6
17376686 2007
7
An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. 6
15562513 2005
8
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. 6
12196661 2002
9
Nemaline Myopathy – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301465 2002
10
Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. 6
10619715 1999
11
A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. 6
10587521 1999
12
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. 6
7704029 1995
13
[Congenital myopathy with selective hypotrophy of type I fibers]. 6
1221488 1975

Variations for Intermediate Congenital Nemaline Myopathy

Expression for Intermediate Congenital Nemaline Myopathy

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

Pathways for Intermediate Congenital Nemaline Myopathy

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

# Super pathways Score Top Affiliating Genes
1 10.66 TPM3 NEB ACTA1

GO Terms for Intermediate Congenital Nemaline Myopathy

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

# Name GO ID Score Top Affiliating Genes
1 actin filament GO:0005884 9.32 TPM3 ACTA1
2 stress fiber GO:0001725 9.26 TPM3 ACTA1
3 cytoskeleton GO:0005856 9.26 TPM3 NEB KLHL41 ACTA1
4 sarcomere GO:0030017 9.16 NEB ACTA1
5 actin cytoskeleton GO:0015629 8.8 TPM3 NEB ACTA1

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.16 TPM3 ACTA1
2 skeletal muscle fiber development GO:0048741 8.96 KLHL41 ACTA1
3 muscle filament sliding GO:0030049 8.8 TPM3 NEB ACTA1

Molecular functions related to Intermediate Congenital Nemaline Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 8.62 TPM3 NEB

Sources for Intermediate 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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