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 ⁷³ ²⁹ ⁶ ¹⁵ ⁷¹

Cap Myopathy 2 ⁵⁷ ⁷³ ²⁹ ⁶ ⁷¹

Nemaline Myopathy 4, Autosomal Dominant ⁵⁷ ¹² ²⁹

Nem4 ⁵⁷ ¹² ⁷³

Tpm2-Related Nemaline Myopathy ⁷³

Myopathy, Nemaline, Type 4 ³⁹

Nemaline Myopathy, Type 4 ⁷⁴

Cap Myopathy Tpm2-Related ⁷³

Cap Myopathy ⁷¹

Cap Disease ⁷³

Capm2 ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

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

HPO:

³¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Muscle diseases Neuronal diseases Respiratory diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110932

OMIM® ⁵⁷ 609285

OMIM Phenotypic Series ⁵⁷ PS161800

MeSH ⁴⁴ D017696

MedGen ⁴¹ C1836447 C2750413 CN178537

UMLS ⁷¹ C1836447 C3710589 C3807907

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Summaries for Nemaline Myopathy 4

UniProtKB/Swiss-Prot : ⁷³ 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 batten-turner congenital myopathy and congenital fiber-type disproportion, and has symptoms including waddling gait An important gene associated with Nemaline Myopathy 4 is TPM2 (Tropomyosin 2). The drugs Antibiotics, Antitubercular and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are high palate and flexion contracture

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

Wikipedia : ⁷⁴ Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary... more...

More information from OMIM: 609285 PS161800

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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
Congenital Nemaline Myopathy

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

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	batten-turner congenital myopathy	30.1	TPM2 LMOD3
2	congenital fiber-type disproportion	29.7	TPM2 LMOD3
3	cap myopathy	11.3
4	nemaline myopathy 1	11.1
5	nemaline myopathy	10.0
6	myopathy	10.0
7	myopathy, congenital, with fiber-type disproportion	10.0
8	typical congenital nemaline myopathy	10.0	TPM2 LMOD3
9	congenital structural myopathy	9.9	TPM2 LMOD3
10	distal arthrogryposis	9.9
11	congenital amyoplasia	9.9
12	nemaline myopathy 3	9.9	RD3 LMOD3
13	multiple pterygium syndrome, escobar variant	9.9	TPM2 LMOD3
14	hypotonia	9.7
15	congenital stationary night blindness	9.6	TRPM3 RD3

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

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Symptoms & Phenotypes for Nemaline Myopathy 4

Human phenotypes related to Nemaline Myopathy 4:

³¹ (show all 20)

#	Description	HPO Source Accession
1	high palate ³¹	HP:0000218
2	flexion contracture ³¹	HP:0001371
3	feeding difficulties in infancy ³¹	HP:0008872
4	skeletal muscle atrophy ³¹	HP:0003202
5	waddling gait ³¹	HP:0002515
6	scapular winging ³¹	HP:0003691
7	motor delay ³¹	HP:0001270
8	kyphoscoliosis ³¹	HP:0002751
9	type 1 muscle fiber predominance ³¹	HP:0003803
10	nemaline bodies ³¹	HP:0003798
11	hyporeflexia ³¹	HP:0001265
12	limb muscle weakness ³¹	HP:0003690
13	reduced vital capacity ³¹	HP:0002792
14	generalized hypotonia ³¹	HP:0001290
15	difficulty walking ³¹	HP:0002355
16	neck muscle weakness ³¹	HP:0000467
17	gowers sign ³¹	HP:0003391
18	myopathic facies ³¹	HP:0002058
19	facial diplegia ³¹	HP:0001349
20	hypotonia ³¹	HP:0001252

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Muscle Soft Tissue:
waddling gait
limb muscle weakness
difficulty walking
neck muscle weakness
gowers sign
more

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)

Skeletal Spine:
kyphoscoliosis

Abdomen Gastrointestinal:
feeding difficulties

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 (Updated 05-Mar-2021)

UMLS symptoms related to Nemaline Myopathy 4:

waddling gait

Sources

Drugs & Therapeutics for Nemaline Myopathy 4

Drugs for Nemaline Myopathy 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	Antibiotics, Antitubercular
2	Anti-Bacterial Agents

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Evaluating the Impact of a New Model of Care Designed to Improve Evidence-based Management of Community-acquired Pneumonia	Completed	NCT02835040

Search 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
3	Nemaline Myopathy 4, Autosomal Dominant ²⁹

Sources

Anatomical Context for Nemaline Myopathy 4

MalaCards organs/tissues related to Nemaline Myopathy 4:

⁴⁰

Skeletal Muscle

Sources

Publications for Nemaline Myopathy 4

Articles related to Nemaline Myopathy 4:

#	Title	Authors	PMID	Year
1	K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. ⁵⁷ ⁶	Mokbel N...Clarke NF	23378224	2013
2	Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. ⁵⁷ ⁶	Davidson AE...Dowling JJ	23413262	2013
3	Cap disease due to mutation of the beta-tropomyosin gene (TPM2). ⁶ ⁵⁷	Clarke NF...North KN	19345583	2009
4	New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations. ⁶ ⁵⁷	Ohlsson M...Tajsharghi H	19047562	2008
5	Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). ⁶ ⁵⁷	Tajsharghi H...Oldfors A	17846275	2007
6	Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. ⁶ ⁵⁷	Lehtokari VL...Wallgren-Pettersson C	17434307	2007
7	Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. ⁶ ⁵⁷	Donner K...Wallgren-Pettersson C	11738357	2002
8	"Cap disease": new congenital myopathy. ⁵⁷	Fidzianska A...Dembek I	7196531	1981
9	Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene. ⁶¹	Ma Y...Gai Z	31526942	2019

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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	PubMed IDs
1	TPM2	Tropomyosin 2	Protein Coding	1349.36	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	19047562
2	CPNE1	Copine 1	Protein Coding	6.71	DISEASES inferred ¹⁵
3	SALL2	Spalt Like Transcription Factor 2	Protein Coding	6.3	DISEASES inferred ¹⁵
4	RD3	RD3 Regulator Of GUCY2D	Protein Coding	6.07	DISEASES inferred ¹⁵
5	TRPM3	Transient Receptor Potential Cation Channel Subfamily M Member 3	Protein Coding	5.96	DISEASES inferred ¹⁵
6	MYG1	MYG1 Exonuclease	Protein Coding	5.86	DISEASES inferred ¹⁵
7	LMOD3	Leiomodin 3	Protein Coding	5.62	DISEASES inferred ¹⁵

Sources

Variations for Nemaline Myopathy 4

ClinVar genetic disease variations for Nemaline Myopathy 4:

⁶ (show all 36)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TPM2	NM_213674.1(TPM2):c.440A>C (p.Gln147Pro)	SNV	Pathogenic	12461	rs104894128	9:35685483-35685483	9:35685486-35685486
2	TPM2	NM_213674.1(TPM2):c.349G>A (p.Glu117Lys)	SNV	Pathogenic	12462	rs104894129	9:35685669-35685669	9:35685672-35685672
3	TPM2	NM_213674.1(TPM2):c.412_414GAG[1] (p.Glu139del)	Microsatellite	Pathogenic	12465	rs199476153	9:35685506-35685508	9:35685509-35685511
4	TPM2	NM_213674.1(TPM2):c.14_16AGA[2] (p.Lys7del)	Microsatellite	Pathogenic	140486	rs199476146	9:35689793-35689795	9:35689796-35689798
5	TPM2	NM_213674.1(TPM2):c.412_414GAG[1] (p.Glu139del)	Microsatellite	Pathogenic	12465	rs199476153	9:35685506-35685508	9:35685509-35685511
6	TPM2	NM_213674.1(TPM2):c.121G>A (p.Glu41Lys)	SNV	Pathogenic	12464	rs137853306	9:35689262-35689262	9:35689265-35689265
7	TPM2	NM_213674.1(TPM2):c.640-215C>G	SNV	Pathogenic	12467	rs137853307	9:35684762-35684762	9:35684765-35684765
8	TPM2	NM_213674.1(TPM2):c.142_144AAG[1] (p.Lys49del)	Microsatellite	Pathogenic	12466	rs199476147	9:35689236-35689238	9:35689239-35689241
9	TPM2	NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)	SNV	Pathogenic	977300		9:35683229-35683229	9:35683232-35683232
10	TPM2	NM_213674.1(TPM2):c.181T>C (p.Ser61Pro)	SNV	Likely pathogenic	224658	rs878854363	9:35689202-35689202	9:35689205-35689205
11	TPM2	NM_213674.1(TPM2):c.269G>A (p.Arg90His)	SNV	Likely pathogenic	617588	rs1563929454	9:35685749-35685749	9:35685752-35685752
12	TPM2	NM_003289.4(TPM2):c.*22C>A	SNV	Uncertain significance	912915		9:35683134-35683134	9:35683137-35683137
13	TPM2	NM_213674.1(TPM2):c.826C>G (p.Gln276Glu)	SNV	Uncertain significance	548556	rs376668943	9:35682107-35682107	9:35682110-35682110
14	TPM2	NM_213674.1(TPM2):c.-92C>T	SNV	Uncertain significance	366773	rs886063906	9:35689906-35689906	9:35689909-35689909
15	TPM2	NM_213674.1(TPM2):c.-158C>A	SNV	Uncertain significance	366774	rs886063907	9:35689972-35689972	9:35689975-35689975
16	TPM2	NM_213674.1(TPM2):c.773-897A>G	SNV	Uncertain significance	366765	rs879505630	9:35683057-35683057	9:35683060-35683060
17	TPM2	NM_213674.1(TPM2):c.-238C>T	SNV	Uncertain significance	366775	rs886063908	9:35690052-35690052	9:35690055-35690055
18	TPM2	NM_213674.1(TPM2):c.-118G>A	SNV	Uncertain significance	914913		9:35689932-35689932	9:35689935-35689935
19	TPM2	NM_003289.4(TPM2):c.*199C>T	SNV	Uncertain significance	914860		9:35682957-35682957	9:35682960-35682960
20	TPM2	NM_003289.4(TPM2):c.*194C>T	SNV	Uncertain significance	914861		9:35682962-35682962	9:35682965-35682965
21	TPM2	NM_213674.1(TPM2):c.-142C>T	SNV	Uncertain significance	912958		9:35689956-35689956	9:35689959-35689959
22	TPM2	NM_213674.1(TPM2):c.772+1002C>A	SNV	Uncertain significance	140496	rs199476157	9:35683241-35683241	9:35683244-35683244
23	TPM2	NM_003289.4(TPM2):c.760G>A (p.Asp254Asn)	SNV	Uncertain significance	913283		9:35684255-35684255	9:35684258-35684258
24	TPM2	NM_003289.4(TPM2):c.569G>A (p.Cys190Tyr)	SNV	Uncertain significance	913284		9:35684799-35684799	9:35684802-35684802
25	TPM2	NM_003289.4(TPM2):c.558C>T (p.Ala186=)	SNV	Likely benign	914400		9:35685271-35685271	9:35685274-35685274
26	TPM2	NM_213674.1(TPM2):c.639+248C>T	SNV	Likely benign	366770	rs763429317	9:35684813-35684813	9:35684816-35684816
27	TPM2	NM_213674.1(TPM2):c.-10C>A	SNV	Likely benign	366771	rs372751531	9:35689824-35689824	9:35689827-35689827
28	TPM2	NM_213674.1(TPM2):c.773-971A>C	SNV	Likely benign	366766	rs781513152	9:35683131-35683131	9:35683134-35683134
29	TPM2	NM_003289.4(TPM2):c.*8G>A	SNV	Benign	94122	rs56249943	9:35683148-35683148	9:35683151-35683151
30	TPM2	NM_213674.1(TPM2):c.-65C>T	SNV	Benign	366772	rs377242459	9:35689879-35689879	9:35689882-35689882
31	TPM2	NM_213674.1(TPM2):c.773-989C>T	SNV	Benign	94121	rs79882576	9:35683149-35683149	9:35683152-35683152
32	TPM2	NM_213674.1(TPM2):c.773-1038C>T	SNV	Benign	366767	rs201215303	9:35683198-35683198	9:35683201-35683201
33	TPM2	NM_213674.1(TPM2):c.-136T>A	SNV	Benign	670241	rs3793539	9:35689950-35689950	9:35689953-35689953
34	TPM2	NM_213674.1(TPM2):c.-137T>A	SNV	Benign	670240	rs3793540	9:35689951-35689951	9:35689954-35689954
35	TPM2	NM_213674.1(TPM2):c.374+9G>C	SNV	Benign	458723	rs200730708	9:35685635-35685635	9:35685638-35685638
36	TPM2	NM_213674.1(TPM2):c.-135T>A	SNV	Benign	670242	rs3793538	9:35689949-35689949	9:35689952-35689952

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

⁷³

#	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

Sources

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

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

#	Name	GO ID	Score	Top Affiliating Genes
1	actin filament organization	GO:0007015	8.96	TPM2 LMOD3
2	muscle contraction	GO:0006936	8.62	TPM2 LMOD3

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

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¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

Human phenotypes related to Nemaline Myopathy 4:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Nemaline Myopathy 4:

Drugs & Therapeutics for Nemaline Myopathy 4

Drugs for Nemaline Myopathy 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

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

ClinVar genetic disease variations for Nemaline Myopathy 4:

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

Expression for Nemaline Myopathy 4

Pathways for Nemaline Myopathy 4

GO Terms for Nemaline Myopathy 4

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

Sources for Nemaline Myopathy 4