MCID: INT274
MIFTS: 27

Intermediate Congenital Nemaline Myopathy

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Intermediate Congenital Nemaline Myopathy

MalaCards integrated aliases for Intermediate Congenital Nemaline Myopathy:

Name: Intermediate Congenital Nemaline Myopathy 19
Intermediate Nemaline Myopathy 19 58
Intermediate Congenital Nm 19

Characteristics:


Inheritance:

Intermediate Nemaline Myopathy: Autosomal dominant,Autosomal recessive 58

Age Of Onset:

Intermediate Nemaline Myopathy: Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Intermediate Congenital Nemaline Myopathy

GARD: 19 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.

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

Orphanet: 58 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.

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 26)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital, with fiber-type disproportion 9.9 TPM3 ACTA1
2 hypotonia 9.8 TPM3 ACTA1
3 hyaline body myopathy 9.8 NEB ACTA1
4 myopathy, distal, 1 9.8 NEB ACTA1
5 central core disease of muscle 9.8 NEB ACTA1
6 multiminicore disease 9.8 NEB ACTA1
7 rigid spine muscular dystrophy 1 9.7 NEB ACTA1
8 nemaline myopathy 8 9.7 NEB KLHL41
9 centronuclear myopathy 9.7 NEB ACTA1
10 myofibrillar myopathy 9.7 NEB ACTA1
11 congenital myasthenic syndrome 9.7 NEB ACTA1
12 multiple pterygium syndrome, escobar variant 9.7 NEB KLHL41
13 limb-girdle muscular dystrophy 9.6 NEB ACTA1
14 cardiomyopathy, familial hypertrophic, 1 9.6 NEB ACTA1
15 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.5 TPM3 NEB ACTA1
16 nemaline myopathy 9.5 NEB KLHL41 ACTA1
17 severe congenital nemaline myopathy 9.5 NEB KLHL41 ACTA1
18 typical congenital nemaline myopathy 9.5 NEB KLHL41 ACTA1
19 neuromuscular disease 9.5 NEB ACTA1
20 myopathy 9.2 TPM3 NEB KLHL41 ACTA1
21 childhood-onset nemaline myopathy 9.2 TPM3 NEB KLHL41 ACTA1
22 nemaline myopathy 2 9.2 TPM3 NEB KLHL41 ACTA1
23 congenital structural myopathy 9.2 TPM3 NEB KLHL41 ACTA1
24 batten-turner congenital myopathy 9.2 TPM3 NEB KLHL41 ACTA1
25 congenital fiber-type disproportion 9.2 TPM3 NEB KLHL41 ACTA1
26 distal arthrogryposis 9.2 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 30 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nemaline bodies 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003798
2 severe muscular hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006829
3 generalized muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003324
4 dysphagia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002015
5 skeletal muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003202
6 emg: myopathic abnormalities 58 30 Frequent (33%) Frequent (79-30%)
HP:0003458
7 motor delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001270
8 type 1 muscle fiber predominance 58 30 Frequent (33%) Frequent (79-30%)
HP:0003803
9 polyhydramnios 58 30 Frequent (33%) Frequent (79-30%)
HP:0001561
10 decreased fetal movement 58 30 Frequent (33%) Frequent (79-30%)
HP:0001558
11 hyporeflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001265
12 respiratory failure 58 30 Frequent (33%) Frequent (79-30%)
HP:0002878
13 difficulty walking 58 30 Frequent (33%) Frequent (79-30%)
HP:0002355
14 myopathic facies 58 30 Frequent (33%) Frequent (79-30%)
HP:0002058
15 hypokinesia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002375
16 multiple prenatal fractures 58 30 Frequent (33%) Frequent (79-30%)
HP:0005855
17 abnormal thorax morphology 30 Frequent (33%) HP:0000765
18 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
19 low-set ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000369
20 high, narrow palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002705
21 ophthalmoplegia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000602
22 long philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000343
23 areflexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001284
24 premature birth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001622
25 facial diplegia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001349
26 arthrogryposis multiplex congenita 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002804
27 facial palsy 58 Frequent (79-30%)
28 flexion contracture 58 Frequent (79-30%)
29 abnormality of the thorax 58 Frequent (79-30%)
30 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

Organs/tissues related to Intermediate Congenital Nemaline Myopathy:

MalaCards : 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

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 9.62 TPM3 ACTA1
2 stress fiber GO:0001725 9.56 TPM3 ACTA1
3 actin cytoskeleton GO:0015629 9.43 TPM3 NEB ACTA1
4 sarcomere GO:0030017 9.33 NEB ACTA1
5 cytoskeleton GO:0005856 9.1 TPM3 NEB KLHL41 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 9.26 TPM3 ACTA1
2 skeletal muscle fiber development GO:0048741 8.92 KLHL41 ACTA1

Sources for Intermediate Congenital Nemaline Myopathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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