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

Sources

Aliases & Classifications for Nemaline Myopathy 4

MalaCards integrated aliases for Nemaline Myopathy 4:

Name: Nemaline Myopathy 4 ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶ ¹⁵ 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 Fetal diseases
Anatomical: Muscle diseases Neuronal diseases Bone 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

Sources

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), and among its related pathways/superpathways are Cushing syndrome and Cell cycle. Affiliated tissues include skeletal muscle and bone, 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.

Wikipedia : ⁷⁶ Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

Description from OMIM: 609285

Sources

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	Top Affiliating Genes
1	cap myopathy	11.6
2	nemaline myopathy 1	11.1
3	multiple endocrine neoplasia, type i	9.8	CDKN1B MEN1
4	multiple endocrine neoplasia, type iib	9.8	CDKN1B MEN1
5	multiple endocrine neoplasia	9.8	CDKN1B MEN1
6	multiple endocrine neoplasia, type iv	9.8	CDKN1B MEN1
7	primary hyperparathyroidism	9.8	CDKN1B MEN1
8	hyperparathyroidism	9.7	CDKN1B MEN1
9	nemaline myopathy	9.7
10	myopathy	9.7

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

Sources

Symptoms & Phenotypes for Nemaline Myopathy 4

Symptoms via clinical synopsis from OMIM:

⁵⁷

Abdomen Gastrointestinal:
feeding difficulties

Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Neck:
neck muscle weakness

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:
waddling gait
difficulty walking
facial diplegia
limb muscle weakness
neck muscle weakness
more

Head And Neck Face:
facial diplegia
myopathic face

Skeletal Spine:
kyphoscoliosis

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	waddling gait ³²	HP:0002515
7	scapular winging ³²	HP:0003691
8	motor delay ³²	HP:0001270
9	nemaline bodies ³²	HP:0003798
10	type 1 muscle fiber predominance ³²	HP:0003803
11	difficulty walking ³²	HP:0002355
12	hyporeflexia ³²	HP:0001265
13	myopathic facies ³²	HP:0002058
14	facial diplegia ³²	HP:0001349
15	generalized hypotonia ³²	HP:0001290
16	reduced vital capacity ³²	HP:0002792
17	limb muscle weakness ³²	HP:0003690
18	neck muscle weakness ³²	HP:0000467
19	kyphoscoliosis ³²	HP:0002751
20	gowers sign ³²	HP:0003391

UMLS symptoms related to Nemaline Myopathy 4:

waddling gait

Sources

Drugs & Therapeutics for Nemaline Myopathy 4

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 4

Sources

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

Sources

Anatomical Context for Nemaline Myopathy 4

MalaCards organs/tissues related to Nemaline Myopathy 4:

⁴¹

Skeletal Muscle, Bone

Sources

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 )	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 )		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 )		2010
7	A TPM3 mutation causing cap myopathy. ( 19553118 )	De Paula A.M....Pouget J.	2009

Sources

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	1328.35	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	20301465 22510848 11738357 (more) 17846275 17434307 19345583 19047562 23378224 23413262
2	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	15.17	DISEASES inferred ¹⁵
3	MEN1	Menin 1	Protein Coding	15.06	DISEASES inferred ¹⁵

Sources

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 18)

#	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
17	TPM2	NM_213674.1(TPM2): c.826C> G (p.Gln276Glu)	single nucleotide variant	Uncertain significance	rs376668943	GRCh38	Chromosome 9, 35682110: 35682110
18	TPM2	NM_213674.1(TPM2): c.826C> G (p.Gln276Glu)	single nucleotide variant	Uncertain significance	rs376668943	GRCh37	Chromosome 9, 35682107: 35682107

Sources

Expression for Nemaline Myopathy 4

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

Sources

Pathways for Nemaline Myopathy 4

Pathways related to Nemaline Myopathy 4 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cushing syndrome ³⁷ Show member pathways Melanogenesis ³⁷	11.56	CDKN1B MEN1
2	Cell cycle ¹ ³⁷	11.32	CDKN1B MEN1
3	Transcriptional misregulation in cancer ³⁷	10.89	CDKN1B MEN1

Sources

GO Terms for Nemaline Myopathy 4

Biological processes related to Nemaline Myopathy 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of cell proliferation	GO:0008285	9.26	CDKN1B MEN1
2	negative regulation of epithelial cell proliferation	GO:0050680	9.16	CDKN1B MEN1
3	negative regulation of cell cycle	GO:0045786	8.96	CDKN1B MEN1
4	negative regulation of cyclin-dependent protein serine/threonine kinase activity	GO:0045736	8.62	CDKN1B MEN1

Sources

Sources for Nemaline Myopathy 4

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Nemaline Myopathy 4 (NEM4)

Aliases & Classifications for Nemaline Myopathy 4

MalaCards integrated aliases for Nemaline Myopathy 4:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Nemaline Myopathy 4

Related Diseases for Nemaline Myopathy 4

Diseases in the Nemaline Myopathy family:

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

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

Symptoms & Phenotypes for Nemaline Myopathy 4

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Nemaline Myopathy 4:

UMLS symptoms related to Nemaline Myopathy 4:

Drugs & Therapeutics for Nemaline Myopathy 4

Genetic Tests for Nemaline Myopathy 4

Genetic tests related to Nemaline Myopathy 4:

Anatomical Context for Nemaline Myopathy 4

MalaCards organs/tissues related to Nemaline Myopathy 4:

Publications for Nemaline Myopathy 4

Articles related to Nemaline Myopathy 4:

Genes for Nemaline Myopathy 4

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

Variations for Nemaline Myopathy 4

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

ClinVar genetic disease variations for Nemaline Myopathy 4:

Expression for Nemaline Myopathy 4

Pathways for Nemaline Myopathy 4

Pathways related to Nemaline Myopathy 4 according to GeneCards Suite gene sharing:

GO Terms for Nemaline Myopathy 4

Biological processes related to Nemaline Myopathy 4 according to GeneCards Suite gene sharing:

Sources for Nemaline Myopathy 4