MCID: NML005
MIFTS: 31

Nemaline Myopathy 4

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

Aliases & Classifications for Nemaline Myopathy 4

MalaCards integrated aliases for Nemaline Myopathy 4:

Name: Nemaline Myopathy 4 57 12 75 29 6 73
Cap Myopathy 2 57 75 29 6 73
Nem4 57 12 75
Nemaline Myopathy 4, Autosomal Dominant 57 12
Tpm2-Related Nemaline Myopathy 75
Myopathy, Nemaline, Type 4 40
Nemaline Myopathy, Type 4 76
Cap Myopathy Tpm2-Related 75
Cap Myopathy 73
Cap Disease 75
Capm2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
genetic heterogeneity (see )
childhood onset (range birth to 12 years)


HPO:

32
nemaline myopathy 4:
Onset and clinical course variable expressivity childhood onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Nemaline Myopathy 4

UniProtKB/Swiss-Prot : 75 Cap myopathy 2: A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and non-progressive or slowly progressive muscle weakness. Respiratory problems are common. Nemaline myopathy 4: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 4 presents from infancy to childhood with hypotonia and moderate-to-severe proximal weakness with minimal or no progression. Major motor milestones are delayed but independent ambulation is usually achieved, although a wheelchair may be needed in later life.

MalaCards based summary : Nemaline Myopathy 4, also known as cap myopathy 2, is related to cap myopathy and nemaline myopathy 1, and has symptoms including waddling gait An important gene associated with Nemaline Myopathy 4 is TPM2 (Tropomyosin 2). Affiliated tissues include skeletal muscle, and related phenotypes are high palate and muscular hypotonia

Disease Ontology : 12 A nemaline myopathy that has material basis in heterozygous mutation in the TPM2 gene on chromosome 9p13.

Description from OMIM: 609285

Related Diseases for Nemaline Myopathy 4

Symptoms & Phenotypes for Nemaline Myopathy 4

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
feeding difficulties

Neurologic Peripheral Nervous System:
hyporeflexia

Skeletal Spine:
kyphoscoliosis

Head And Neck Mouth:
high-arched palate
jaw contractures

Cardiovascular Heart:
decreased left ventricular ejection fraction (reported in 1 patient)

Skeletal:
contractures (in more severe early-onset cases)

Muscle Soft Tissue:
difficulty walking
neck muscle weakness
limb muscle weakness
waddling gait
facial diplegia
more
Head And Neck Neck:
neck muscle weakness

Head And Neck Face:
facial diplegia
myopathic face

Chest Ribs Sternum Clavicles And Scapulae:
winged scapulae

Respiratory:
decreased vital capacity due to muscle weakness

Neurologic Central Nervous System:
delayed motor milestones due to muscle weakness


Clinical features from OMIM:

609285

Human phenotypes related to Nemaline Myopathy 4:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 muscular hypotonia 32 HP:0001252
3 flexion contracture 32 HP:0001371
4 feeding difficulties in infancy 32 HP:0008872
5 skeletal muscle atrophy 32 HP:0003202
6 scapular winging 32 HP:0003691
7 nemaline bodies 32 HP:0003798
8 type 1 muscle fiber predominance 32 HP:0003803
9 difficulty walking 32 HP:0002355
10 hyporeflexia 32 HP:0001265
11 motor delay 32 HP:0001270
12 myopathic facies 32 HP:0002058
13 neck muscle weakness 32 HP:0000467
14 kyphoscoliosis 32 HP:0002751
15 limb muscle weakness 32 HP:0003690
16 generalized hypotonia 32 HP:0001290
17 waddling gait 32 HP:0002515
18 reduced vital capacity 32 HP:0002792
19 facial diplegia 32 HP:0001349
20 gowers sign 32 HP:0003391

UMLS symptoms related to Nemaline Myopathy 4:


waddling gait

Drugs & Therapeutics for Nemaline Myopathy 4

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 4

Genetic Tests for Nemaline Myopathy 4

Genetic tests related to Nemaline Myopathy 4:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 4 29 TPM2
2 Cap Myopathy 2 29

Anatomical Context for Nemaline Myopathy 4

MalaCards organs/tissues related to Nemaline Myopathy 4:

41
Skeletal Muscle

Publications for Nemaline Myopathy 4

Articles related to Nemaline Myopathy 4:

# Title Authors Year
1
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. ( 28220527 )
2017
2
The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. ( 23804214 )
2013
3
Novel TPM3 mutation in a family with cap myopathy and review of the literature. ( 24239060 )
2013
4
Abnormal actin binding of aberrant I^-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. ( 22084935 )
2012
5
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. ( 20554445 )
2010
6
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. ( 20303757 )
2010
7
A TPM3 mutation causing cap myopathy. ( 19553118 )
2009

Variations for Nemaline Myopathy 4

UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 4:

75
# Symbol AA change Variation ID SNP ID
1 TPM2 p.Glu117Ala VAR_013468
2 TPM2 p.Gln147Pro VAR_013469 rs104894128
3 TPM2 p.Glu41Lys VAR_070978 rs137853306
4 TPM2 p.Arg133Trp VAR_070981 rs137853305
5 TPM2 p.Asn202Lys VAR_070983 rs137853307
6 TPM2 p.Ala3Gly VAR_071486
7 TPM2 p.Asp14Val VAR_071488
8 TPM2 p.Leu143Pro VAR_071494
9 TPM2 p.Leu148Pro VAR_071495

ClinVar genetic disease variations for Nemaline Myopathy 4:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 TPM2 NM_003289.3(TPM2): c.440A> C (p.Gln147Pro) single nucleotide variant Pathogenic rs104894128 GRCh37 Chromosome 9, 35685483: 35685483
2 TPM2 NM_003289.3(TPM2): c.440A> C (p.Gln147Pro) single nucleotide variant Pathogenic rs104894128 GRCh38 Chromosome 9, 35685486: 35685486
3 TPM2 NM_003289.3(TPM2): c.349G> A (p.Glu117Lys) single nucleotide variant Pathogenic rs104894129 GRCh37 Chromosome 9, 35685669: 35685669
4 TPM2 NM_003289.3(TPM2): c.349G> A (p.Glu117Lys) single nucleotide variant Pathogenic rs104894129 GRCh38 Chromosome 9, 35685672: 35685672
5 TPM2 NM_003289.3(TPM2): c.121G> A (p.Glu41Lys) single nucleotide variant Pathogenic rs137853306 GRCh37 Chromosome 9, 35689262: 35689262
6 TPM2 NM_003289.3(TPM2): c.121G> A (p.Glu41Lys) single nucleotide variant Pathogenic rs137853306 GRCh38 Chromosome 9, 35689265: 35689265
7 TPM2 NM_003289.3(TPM2): c.415_417delGAG (p.Glu139del) deletion Pathogenic rs199476153 GRCh37 Chromosome 9, 35685506: 35685508
8 TPM2 NM_003289.3(TPM2): c.415_417delGAG (p.Glu139del) deletion Pathogenic rs199476153 GRCh38 Chromosome 9, 35685509: 35685511
9 TPM2 NM_003289.3(TPM2): c.145_147delAAG (p.Lys49del) deletion Pathogenic rs199476147 GRCh37 Chromosome 9, 35689236: 35689238
10 TPM2 NM_003289.3(TPM2): c.145_147delAAG (p.Lys49del) deletion Pathogenic rs199476147 GRCh38 Chromosome 9, 35689239: 35689241
11 TPM2 NM_003289.3(TPM2): c.606C> G (p.Asn202Lys) single nucleotide variant Pathogenic rs137853307 GRCh37 Chromosome 9, 35684762: 35684762
12 TPM2 NM_003289.3(TPM2): c.606C> G (p.Asn202Lys) single nucleotide variant Pathogenic rs137853307 GRCh38 Chromosome 9, 35684765: 35684765
13 TPM2 NM_003289.3(TPM2): c.20_22delAGA (p.Lys7del) deletion Pathogenic rs199476146 GRCh37 Chromosome 9, 35689793: 35689795
14 TPM2 NM_003289.3(TPM2): c.20_22delAGA (p.Lys7del) deletion Pathogenic rs199476146 GRCh38 Chromosome 9, 35689796: 35689798
15 TPM2 NM_003289.3(TPM2): c.181T> C (p.Ser61Pro) single nucleotide variant Likely pathogenic rs878854363 GRCh37 Chromosome 9, 35689202: 35689202
16 TPM2 NM_003289.3(TPM2): c.181T> C (p.Ser61Pro) single nucleotide variant Likely pathogenic rs878854363 GRCh38 Chromosome 9, 35689205: 35689205

Expression for Nemaline Myopathy 4

Search GEO for disease gene expression data for Nemaline Myopathy 4.

Pathways for Nemaline Myopathy 4

GO Terms for Nemaline Myopathy 4

Sources for Nemaline Myopathy 4

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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