MCID: INT274
MIFTS: 32

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 53
Intermediate Nemaline Myopathy 53 59
Intermediate Congenital Nm 53

Characteristics:

Orphanet epidemiological data:

59
intermediate nemaline myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: any age;

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Intermediate 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: 171433Disease definitionIntermediate 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.EpidemiologyThe annual incidence of NM has been estimated at 1/50,000 live births, and intermediate NM might represent 20% of all cases.Clinical descriptionNeonates 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.EtiologyThe 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 nemaline myopathy 2 and cap myopathy. An important gene associated with Intermediate Congenital Nemaline Myopathy is KLHL41 (Kelch Like Family Member 41), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include bone and skeletal muscle, and related phenotypes are hypertelorism and low-set ears

Related Diseases for Intermediate Congenital Nemaline Myopathy

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:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
3 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
4 generalized muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003324
5 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
6 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
7 abnormality of the thorax 59 32 frequent (33%) Frequent (79-30%) HP:0000765
8 high, narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002705
9 arthrogryposis multiplex congenita 59 32 very rare (1%) Very rare (<4-1%) HP:0002804
10 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
11 nemaline bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003798
12 type 1 muscle fiber predominance 59 32 frequent (33%) Frequent (79-30%) HP:0003803
13 respiratory failure 59 32 frequent (33%) Frequent (79-30%) HP:0002878
14 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
15 areflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001284
16 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
17 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
18 decreased fetal movement 59 32 frequent (33%) Frequent (79-30%) HP:0001558
19 hypokinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002375
20 myopathic facies 59 32 frequent (33%) Frequent (79-30%) HP:0002058
21 premature birth 59 32 occasional (7.5%) Occasional (29-5%) HP:0001622
22 multiple prenatal fractures 59 32 frequent (33%) Frequent (79-30%) HP:0005855
23 severe muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006829
24 ophthalmoplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000602
25 facial diplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001349
26 facial palsy 59 Frequent (79-30%)
27 flexion contracture 59 Frequent (79-30%)
28 cardiomyopathy 59 Excluded (0%)
29 emg: myopathic abnormalities 59 Frequent (79-30%)
30 emg 32 frequent (33%) HP:0003458

MGI Mouse Phenotypes related to Intermediate Congenital Nemaline Myopathy:

46
# 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:

41
Bone, Skeletal Muscle

Publications for Intermediate Congenital Nemaline Myopathy

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 ACTA1 NEB TPM3

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 ACTA1 TPM3
2 sarcomere GO:0030017 9.26 ACTA1 NEB
3 cytoskeleton GO:0005856 9.26 ACTA1 KLHL41 NEB TPM3
4 stress fiber GO:0001725 9.16 ACTA1 TPM3
5 actin cytoskeleton GO:0015629 8.8 ACTA1 NEB TPM3

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 ACTA1 TPM3
2 skeletal muscle fiber development GO:0048741 8.96 ACTA1 KLHL41
3 muscle filament sliding GO:0030049 8.8 ACTA1 NEB TPM3

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 NEB TPM3

Sources for Intermediate 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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