MCID: NML017
MIFTS: 30

Nemaline Myopathy 4, Autosomal Dominant

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

Aliases & Classifications for Nemaline Myopathy 4, Autosomal Dominant

MalaCards integrated aliases for Nemaline Myopathy 4, Autosomal Dominant:

Name: Nemaline Myopathy 4, Autosomal Dominant 54 12
Nemaline Myopathy 4 12 71 29 69
Cap Myopathy 2 54 71 29 69
Nem4 12 71
Tpm2-Related Nemaline Myopathy 71
Cap Myopathy Tpm2-Related 71
Cap Myopathy 69
Cap Disease 71
Capm2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



Summaries for Nemaline Myopathy 4, Autosomal Dominant

UniProtKB/Swiss-Prot : 71 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, Autosomal Dominant, also known as nemaline myopathy 4, is related to cap myopathy and tpm2-related nemaline myopathy, and has symptoms including reduced vital capacity, hyporeflexia and kyphoscoliosis. An important gene associated with Nemaline Myopathy 4, Autosomal Dominant is TPM2 (Tropomyosin 2 (Beta)). Affiliated tissues include skeletal muscle.

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, Autosomal Dominant

Graphical network of the top 20 diseases related to Nemaline Myopathy 4, Autosomal Dominant:



Diseases related to Nemaline Myopathy 4, Autosomal Dominant

Symptoms & Phenotypes for Nemaline Myopathy 4, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate
jaw contractures

Neurologic- Peripheral Nervous System:
hyporeflexia

Head And Neck- Neck:
neck muscle weakness

Head And Neck- Face:
facial diplegia
myopathic face

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

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

Muscle Soft Tissue:
hypotonia
gowers sign
waddling gait
neck muscle weakness
muscle atrophy
more
Skeletal- Spine:
kyphoscoliosis

Abdomen- Gastroin testinal:
feeding difficulties

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, Autosomal Dominant:

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

UMLS symptoms related to Nemaline Myopathy 4, Autosomal Dominant:


waddling gait

Drugs & Therapeutics for Nemaline Myopathy 4, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 4, Autosomal Dominant

Genetic Tests for Nemaline Myopathy 4, Autosomal Dominant

Genetic tests related to Nemaline Myopathy 4, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Nemaline Myopathy 4 29
2 Cap Myopathy 2 29

Anatomical Context for Nemaline Myopathy 4, Autosomal Dominant

MalaCards organs/tissues related to Nemaline Myopathy 4, Autosomal Dominant:

39
Skeletal Muscle

Publications for Nemaline Myopathy 4, Autosomal Dominant

Variations for Nemaline Myopathy 4, Autosomal Dominant

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

71
id 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, Autosomal Dominant:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TPM2 NM_003289.3(TPM2): c.145_147delAAG (p.Lys49del) deletion Pathogenic rs199476147 GRCh37 Chromosome 9, 35689236: 35689238
2 TPM2 NM_003289.3(TPM2): c.606C> G (p.Asn202Lys) single nucleotide variant Pathogenic rs137853307 GRCh37 Chromosome 9, 35684762: 35684762
3 TPM2 NM_003289.3(TPM2): c.440A> C (p.Gln147Pro) single nucleotide variant Pathogenic rs104894128 GRCh37 Chromosome 9, 35685483: 35685483
4 TPM2 NM_003289.3(TPM2): c.349G> A (p.Glu117Lys) single nucleotide variant Pathogenic rs104894129 GRCh37 Chromosome 9, 35685669: 35685669
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.415_417delGAG (p.Glu139del) deletion Pathogenic rs199476153 GRCh37 Chromosome 9, 35685506: 35685508
7 TPM2 NM_003289.3(TPM2): c.20_22delAGA (p.Lys7del) deletion Pathogenic rs199476146 GRCh37 Chromosome 9, 35689793: 35689795
8 TPM2 NM_003289.3(TPM2): c.181T> C (p.Ser61Pro) single nucleotide variant Likely pathogenic rs878854363 GRCh37 Chromosome 9, 35689202: 35689202

Expression for Nemaline Myopathy 4, Autosomal Dominant

Search GEO for disease gene expression data for Nemaline Myopathy 4, Autosomal Dominant.

Pathways for Nemaline Myopathy 4, Autosomal Dominant

GO Terms for Nemaline Myopathy 4, Autosomal Dominant

Sources for Nemaline Myopathy 4, Autosomal Dominant

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10 dbSNP
11 DGIdb
16 ExPASy
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65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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