Nemaline Myopathy 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Muscle diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 609285

Disease Ontology ¹² DOID:0110932

MedGen ⁴² C1836447 C2750413 CN178537

MeSH ⁴⁴ D017696

UMLS ⁷³ C1836447 C3807907 C3710589

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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

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Related Diseases for Nemaline Myopathy 4

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

Diseases related to Nemaline Myopathy 4 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	cap myopathy	11.1
2	nemaline myopathy 1	10.9
3	nemaline myopathy	9.6
4	myopathy	9.6

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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 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

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Drugs & Therapeutics for Nemaline Myopathy 4

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 4

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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

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Anatomical Context for Nemaline Myopathy 4

MalaCards organs/tissues related to Nemaline Myopathy 4:

⁴¹

Skeletal Muscle

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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 )	Lornage X....LaPorte J.	2017
2	The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. ( 23804214 )	Tamblyn J.A....Kilby M.D.	2013
3	Novel TPM3 mutation in a family with cap myopathy and review of the literature. ( 24239060 )	Schreckenbach T....Claeys K.G.	2013
4	Abnormal actin binding of aberrant I^-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. ( 22084935 )	Marttila M....Wallgren-Pettersson C.	2012
5	Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. ( 20554445 )	Waddell L.B....Clarke N.F.	2010
6	Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. ( 20303757 )	Hung R.M....Vajsar J.	2010
7	A TPM3 mutation causing cap myopathy. ( 19553118 )	De Paula A.M....Pouget J.	2009

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Genes for Nemaline Myopathy 4

Genes related to Nemaline Myopathy 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TPM2	Tropomyosin 2	Protein Coding	1328.51	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	11738357 20301465 22510848 (more) 17846275 23378224 23413262

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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

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Expression for Nemaline Myopathy 4

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

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Pathways for Nemaline Myopathy 4

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GO Terms for Nemaline Myopathy 4

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Sources for Nemaline Myopathy 4

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