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 ¹¹ ⁷³ ²⁸ ⁵ ⁴³ ¹⁴ ⁷¹

Cap Myopathy 2 ⁵⁷ ⁷³ ²⁸ ⁵ ⁷¹

Nemaline Myopathy 4, Autosomal Dominant ⁵⁷ ¹¹ ²⁸

Nem4 ⁵⁷ ¹¹ ⁷³

Tpm2-Related Nemaline Myopathy ⁷³

Myopathy, Nemaline, Type 4 ³⁸

Nemaline Myopathy, Type 4 ⁷⁵

Cap Myopathy Tpm2-Related ⁷³

Tpm2-Related Cap Myopathy ⁵

Cap Myopathy ⁷¹

Cap Disease ⁷³

Capm2 ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

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)

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Summaries for Nemaline Myopathy 4

UniProtKB/Swiss-Prot ⁷³ 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.

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.

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). Affiliated tissues include skeletal muscle, prostate and pituitary, and related phenotypes are hypotonia and feeding difficulties in infancy

Disease Ontology: ¹¹ A nemaline myopathy that has material basis in heterozygous mutation in the TPM2 gene on chromosome 9p13.

Wikipedia: ⁷⁵ 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 22)

#	Related Disease	Score	Top Affiliating Genes
1	batten-turner congenital myopathy	30.1	TPM2 MYMK
2	congenital fiber-type disproportion	29.9	TPM2 MYMK
3	distal arthrogryposis	29.3	ZC4H2 TPM2
4	cap myopathy	11.3
5	nemaline myopathy 1	11.1
6	myopathy, congenital, with fiber-type disproportion	10.0
7	nemaline myopathy	10.0
8	myopathy	10.0
9	catastrophic antiphospholipid syndrome	10.0
10	cryopyrin-associated periodic syndrome	10.0
11	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	9.9
12	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1	9.9
13	respiratory failure	9.9
14	hypotonia	9.9
15	fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	9.8	ZC4H2 MYMK
16	carey-fineman-ziter syndrome 1	9.8	ZC4H2 MYMK
17	multiple pterygium syndrome, escobar variant	9.8	ZC4H2 TPM2
18	cardiomyopathy, familial hypertrophic, 1	9.8	TPM2 MYMK
19	arthrogryposis, distal, type 1a	9.7
20	ptosis	9.7
21	limb-girdle muscular dystrophy	9.7
22	neuromuscular disease	9.7

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:

³⁰ (show all 20)

#	Description	HPO Frequency	HPO Source Accession
1	hypotonia ³⁰	Very rare (1%)	HP:0001252
2	feeding difficulties in infancy ³⁰	Very rare (1%)	HP:0008872
3	nemaline bodies ³⁰	Very rare (1%)	HP:0003798
4	neck muscle weakness ³⁰	Very rare (1%)	HP:0000467
5	difficulty walking ³⁰	Very rare (1%)	HP:0002355
6	myopathic facies ³⁰	Very rare (1%)	HP:0002058
7	high palate ³⁰		HP:0000218
8	flexion contracture ³⁰		HP:0001371
9	skeletal muscle atrophy ³⁰		HP:0003202
10	waddling gait ³⁰		HP:0002515
11	scapular winging ³⁰		HP:0003691
12	motor delay ³⁰		HP:0001270
13	kyphoscoliosis ³⁰		HP:0002751
14	type 1 muscle fiber predominance ³⁰		HP:0003803
15	hyporeflexia ³⁰		HP:0001265
16	gowers sign ³⁰		HP:0003391
17	limb muscle weakness ³⁰		HP:0003690
18	generalized hypotonia ³⁰		HP:0001290
19	facial diplegia ³⁰		HP:0001349
20	reduced vital capacity ³⁰		HP:0002792

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Muscle Soft Tissue:
hypotonia
waddling gait
neck muscle weakness
difficulty walking
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 08-Dec-2022)

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

Cochrane evidence based reviews: 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 ²⁸	TPM2
2	Cap Myopathy 2 ²⁸
3	Nemaline Myopathy 4, Autosomal Dominant ²⁸

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Anatomical Context for Nemaline Myopathy 4

Organs/tissues related to Nemaline Myopathy 4:

MalaCards : Skeletal Muscle, Prostate, Pituitary

ODiseA: Skeletal Muscle

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Publications for Nemaline Myopathy 4

Articles related to Nemaline Myopathy 4:

(show top 50) (show all 56)

#	Title	Authors	PMID	Year
1	Cap disease due to mutation of the beta-tropomyosin gene (TPM2). ⁶² ⁵⁷ ⁵	Clarke NF...North KN	19345583	2009
2	New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations. ⁶² ⁵⁷ ⁵	Ohlsson M...Tajsharghi H	19047562	2008
3	Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). ⁶² ⁵⁷ ⁵	Tajsharghi H...Oldfors A	17846275	2007
4	Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. ⁶² ⁵⁷ ⁵	Lehtokari VL...Wallgren-Pettersson C	17434307	2007
5	K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. ⁵⁷ ⁵	Mokbel N...Clarke NF	23378224	2013
6	Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. ⁵⁷ ⁵	Davidson AE...Dowling JJ	23413262	2013
7	Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. ⁵⁷ ⁵	Donner K...Wallgren-Pettersson C	11738357	2002
8	"Cap disease": new congenital myopathy. ⁶² ⁵⁷	Fidzianska A...Dembek I	7196531	1981
9	Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. ⁵	Marinakis NM...Traeger-Synodinos J	34008892	2021
10	A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I. ⁵	Jin JY...Xiang R	31966463	2017
11	Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany. ⁵	Vill K...Muller-Felber W	29172004	2017
12	Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. ⁵	Punetha J...Hoffman EP	27854218	2016
13	Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. ⁵	Citirak G...Vissing J	24507666	2014
14	Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients. ⁵	Marston S...Lehman W	23886664	2013
15	Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures. ⁵	Tasca G...Silvestri G	23015096	2013
16	Mutations in TPM2 and congenital fibre type disproportion. ⁵	Clarke NF...North KN	22832343	2012
17	[MEN for multiple endocrin neoplasms: When evokate MEN? Update 2022]. ⁶²	Duval M...Haissaguerre M	36307322	2022
18	Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern. ⁶²	Bevilacqua JA...Romero NB	35688744	2022
19	Pretreatment visceral metastases in castration resistant metastatic prostate cancer: role in prediction versus actual site of disease progression. ⁶²	Ruchalski K...Goldin J	35836271	2022
20	Markov State Modelling of Disease Courses and Mortality Risks of Patients with Community-Acquired Pneumonia. ⁶²	Przybilla J...Scholz M	32121038	2020
21	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. ⁶²	Ma Y...Gai Z	31526942	2019
22	Relative Clinical and Cost Burden of Community-Acquired Pneumonia Hospitalizations in Older Adults in the United States-A Cross-Sectional Analysis. ⁶²	Olasupo O...Brown JD	30200286	2018
23	The reason for the low Ca2+-sensitivity of thin filaments associated with the Glu41Lys mutation in the TPM2 gene is "freezing" of tropomyosin near the outer domain of actin and inhibition of actin monomer switching off during the ATPase cycle. ⁶²	Avrova SV...Borovikov YS	29792862	2018
24	A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features. ⁶²	Mroczek M...Kochanski A	27726070	2017
25	Complication of Community-Acquired Pneumonia (Including Cardiac Complications). ⁶²	Restrepo MI...Anzueto A	27960213	2016
26	Improving outcomes in community-acquired pneumonia. ⁶²	Bender MT...Niederman MS	26859379	2016
27	[The three-category classification of severe acute pancreatitis: a single-center pilot study]. ⁶²	Wu D...Qian J	25623558	2014
28	ROBO1, a tumor suppressor and critical molecular barrier for localized tumor cells to acquire invasive phenotype: study in African-American and Caucasian prostate cancer models. ⁶²	Parray A...Saleem M	24752651	2014
29	Corticosteroids in the treatment of severe community-acquired pneumonia. ⁶²	Ramsey TD...Gorman SK	24817026	2014
30	Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. ⁶²	Malfatti E...Romero NB	24095155	2013
31	Mechanism of recruitment and activation of the endosome-associated deubiquitinase AMSH. ⁶²	Davies CW...Das C	24151880	2013
32	Community-acquired pneumonia. ⁶²	Irfan M...Hasan R	23422417	2013
33	BMI1 polycomb group protein acts as a master switch for growth and death of tumor cells: regulates TCF4-transcriptional factor-induced BCL2 signaling. ⁶²	Siddique HR...Saleem M	23671559	2013
34	Myopathies associated with β-tropomyosin mutations. ⁶²	Tajsharghi H...Oldfors A	22749895	2012
35	Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. ⁶²	Robaszkiewicz K...Moraczewska J	22749829	2012
36	Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations. ⁶²	Jarraya M...Carlier RY	22980765	2012
37	Protein aggregation in congenital myopathies. ⁶²	Goebel HH...Blaschek A	22172423	2011
38	Ten-year outcomes: the clinical utility of single photon emission computed tomography/computed tomography capromab pendetide (Prostascint) in a cohort diagnosed with localized prostate cancer. ⁶²	Ellis RJ...Bodner D	20961696	2011
39	[Congenital myopathies - skeletal muscle diseases related to disorder of actin filament structure and functions]. ⁶²	Robaszkiewicz K...Moraczewska J	21677359	2011
40	Angiogenesis as a strategic target for prostate cancer therapy. ⁶²	Li Y...Cozzi PJ	19536866	2010
41	A TPM3 mutation causing cap myopathy. ⁶²	De Paula AM...Pouget J	19553118	2009
42	RHAMM (CD168) is overexpressed at the protein level and may constitute an immunogenic antigen in advanced prostate cancer disease. ⁶²	Gust KM...Ringhoffer M	19724689	2009
43	TPM3 mutation in one of the original cases of cap disease. ⁶²	Ohlsson M...Oldfors A	19487656	2009
44	[Familial pituitary adenomas]. ⁶²	Burlacu MC...Beckers A	18990538	2009
45	Genetic variation for resistance to ergot (Claviceps purpurea [Fr.] Tul.) among full-sib families of five populations of winter rye (Secale cereale L.). ⁶²	Mirdita V...Miedaner T	18797841	2008
46	Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. ⁶²	Ochala J	18574571	2008
47	The role of extracellular matrix metalloproteinase inducer protein in prostate cancer progression. ⁶²	Madigan MC...Li Y	18273614	2008
48	Residual prostate cancer after radiotherapy: a study of radical cystoprostatectomy specimens. ⁶²	Kaplan DJ...Uzzo RG	18289645	2008
49	Tropomyosins in skeletal muscle diseases. ⁶²	Kee AJ...Hardeman EC	19209820	2008
50	Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin. ⁶²	Clarke NF	19181092	2008

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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	1338.4	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	11738357 17434307 17846275 (more) 19047562 19345583 23015096 23378224 23413262 23886664 24507666 29172004 22832343 27854218 31966463 34008892
2	SALL2	Spalt Like Transcription Factor 2	Protein Coding	5.92	DISEASES inferred ¹⁴
3	MYG1	MYG1 Exonuclease	Protein Coding	5.42	DISEASES inferred ¹⁴
4	ZC4H2	Zinc Finger C4H2-Type Containing	Protein Coding	5.19	DISEASES inferred ¹⁴
5	F11R	F11 Receptor	Protein Coding	5.12	DISEASES inferred ¹⁴
6	MYMK	Myomaker, Myoblast Fusion Factor	Protein Coding	5.07	DISEASES inferred ¹⁴

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Variations for Nemaline Myopathy 4

ClinVar genetic disease variations for Nemaline Myopathy 4:

⁵ (show all 38)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TPM2	NM_003289.4(TPM2):c.440A>C (p.Gln147Pro)	SNV	Pathogenic	12461	rs104894128	GRCh37: 9:35685483-35685483 GRCh38: 9:35685486-35685486
2	TPM2	NM_003289.4(TPM2):c.121G>A (p.Glu41Lys)	SNV	Pathogenic	12464	rs137853306	GRCh37: 9:35689262-35689262 GRCh38: 9:35689265-35689265
3	TPM2	NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del)	MICROSAT	Pathogenic	140486	rs199476146	GRCh37: 9:35689793-35689795 GRCh38: 9:35689796-35689798
4	TPM2	NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)	SNV	Pathogenic	12462	rs104894129	GRCh37: 9:35685669-35685669 GRCh38: 9:35685672-35685672
5	TPM2	NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)	MICROSAT	Pathogenic Pathogenic	12465	rs199476153	GRCh37: 9:35685506-35685508 GRCh38: 9:35685509-35685511
6	TPM2	NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)	SNV	Pathogenic	977300	rs1824676022	GRCh37: 9:35683229-35683229 GRCh38: 9:35683232-35683232
7	TPM2	NM_003289.4(TPM2):c.142AAG[1] (p.Lys49del)	MICROSAT	Pathogenic	12466	rs199476147	GRCh37: 9:35689236-35689238 GRCh38: 9:35689239-35689241
8	TPM2	NM_003289.4(TPM2):c.606C>G (p.Asn202Lys)	SNV	Pathogenic	12467	rs137853307	GRCh37: 9:35684762-35684762 GRCh38: 9:35684765-35684765
9	TPM2	NM_003289.4(TPM2):c.463G>A (p.Ala155Thr)	SNV	Likely Pathogenic	569587	rs1563929039	GRCh37: 9:35685460-35685460 GRCh38: 9:35685463-35685463
10	TPM2	NM_213674.1(TPM2):c.773-2A>C	SNV	Likely Pathogenic	1299603		GRCh37: 9:35682162-35682162 GRCh38: 9:35682165-35682165
11	TPM2	NM_003289.4(TPM2):c.181T>C (p.Ser61Pro)	SNV	Likely Pathogenic	224658	rs878854363	GRCh37: 9:35689202-35689202 GRCh38: 9:35689205-35689205
12	TPM2	NM_003289.4(TPM2):c.269G>A (p.Arg90His)	SNV	Likely Pathogenic	617588	rs1563929454	GRCh37: 9:35685749-35685749 GRCh38: 9:35685752-35685752
13	TPM2	NM_003289.4(TPM2):c.*22C>A	SNV	Uncertain Significance	912915	rs1824669468	GRCh37: 9:35683134-35683134 GRCh38: 9:35683137-35683137
14	TPM2	NM_003289.4(TPM2):c.773-3C>A	SNV	Uncertain Significance	140496	rs199476157	GRCh37: 9:35683241-35683241 GRCh38: 9:35683244-35683244
15	TPM2	NM_003289.4(TPM2):c.760G>A (p.Asp254Asn)	SNV	Uncertain Significance	913283	rs1419786293	GRCh37: 9:35684255-35684255 GRCh38: 9:35684258-35684258
16	TPM2	NM_003289.4(TPM2):c.569G>A (p.Cys190Tyr)	SNV	Uncertain Significance	913284	rs1369077598	GRCh37: 9:35684799-35684799 GRCh38: 9:35684802-35684802
17	TPM2	NM_003289.4(TPM2):c.-92C>T	SNV	Uncertain Significance	366773	rs886063906	GRCh37: 9:35689906-35689906 GRCh38: 9:35689909-35689909
18	TPM2	NM_003289.4(TPM2):c.*99A>G	SNV	Uncertain Significance	366765	rs879505630	GRCh37: 9:35683057-35683057 GRCh38: 9:35683060-35683060
19	TPM2	NM_003289.4(TPM2):c.*199C>T	SNV	Uncertain Significance	914860	rs965743785	GRCh37: 9:35682957-35682957 GRCh38: 9:35682960-35682960
20	TPM2	NM_003289.4(TPM2):c.*194C>T	SNV	Uncertain Significance	914861	rs561175276	GRCh37: 9:35682962-35682962 GRCh38: 9:35682965-35682965
21	TPM2	NM_003289.4(TPM2):c.773-5C>G	SNV	Uncertain Significance	1028593	rs1230541017	GRCh37: 9:35683243-35683243 GRCh38: 9:35683246-35683246
22	TPM2	NM_213674.1(TPM2):c.-142C>T	SNV	Uncertain Significance	912958	rs1825166266	GRCh37: 9:35689956-35689956 GRCh38: 9:35689959-35689959
23	TPM2	NM_213674.1(TPM2):c.-118G>A	SNV	Uncertain Significance	914913	rs986048371	GRCh37: 9:35689932-35689932 GRCh38: 9:35689935-35689935
24	TPM2	NM_213674.1(TPM2):c.-238C>T	SNV	Uncertain Significance	366775	rs886063908	GRCh37: 9:35690052-35690052 GRCh38: 9:35690055-35690055
25	TPM2	NM_213674.1(TPM2):c.-158C>A	SNV	Uncertain Significance	366774	rs886063907	GRCh37: 9:35689972-35689972 GRCh38: 9:35689975-35689975
26	TPM2	NM_213674.1(TPM2):c.826C>G (p.Gln276Glu)	SNV	Uncertain Significance	548556	rs376668943	GRCh37: 9:35682107-35682107 GRCh38: 9:35682110-35682110
27	TPM2	NM_003289.4(TPM2):c.564-9C>T	SNV	Likely Benign	366770	rs763429317	GRCh37: 9:35684813-35684813 GRCh38: 9:35684816-35684816
28	TPM2	NM_003289.4(TPM2):c.*25A>C	SNV	Likely Benign	366766	rs781513152	GRCh37: 9:35683131-35683131 GRCh38: 9:35683134-35683134
29	TPM2	NM_003289.4(TPM2):c.-10C>A	SNV	Likely Benign	366771	rs372751531	GRCh37: 9:35689824-35689824 GRCh38: 9:35689827-35689827
30	TPM2	NM_003289.4(TPM2):c.558C>T (p.Ala186=)	SNV	Likely Benign	914400	rs746177794	GRCh37: 9:35685271-35685271 GRCh38: 9:35685274-35685274
31	TPM2	NM_003289.4(TPM2):c.-65C>T	SNV	Benign	366772	rs377242459	GRCh37: 9:35689879-35689879 GRCh38: 9:35689882-35689882
32	TPM2	NM_003289.4(TPM2):c.*7C>T	SNV	Benign	94121	rs79882576	GRCh37: 9:35683149-35683149 GRCh38: 9:35683152-35683152
33	TPM2	NM_003289.4(TPM2):c.813C>T (p.Ser271=)	SNV	Benign	366767	rs201215303	GRCh37: 9:35683198-35683198 GRCh38: 9:35683201-35683201
34	TPM2	NM_003289.4(TPM2):c.*8G>A	SNV	Benign	94122	rs56249943	GRCh37: 9:35683148-35683148 GRCh38: 9:35683151-35683151
35	TPM2	NM_003289.4(TPM2):c.374+9G>C	SNV	Benign	458723	rs200730708	GRCh37: 9:35685635-35685635 GRCh38: 9:35685638-35685638
36	TPM2	NM_213674.1(TPM2):c.-135T>A	SNV	Benign	670242	rs3793538	GRCh37: 9:35689949-35689949 GRCh38: 9:35689952-35689952
37	TPM2	NM_213674.1(TPM2):c.-136T>A	SNV	Benign	670241	rs3793539	GRCh37: 9:35689950-35689950 GRCh38: 9:35689953-35689953
38	TPM2	NM_213674.1(TPM2):c.-137T>A	SNV	Benign	670240	rs3793540	GRCh37: 9:35689951-35689951 GRCh38: 9:35689954-35689954

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

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Expression for Nemaline Myopathy 4

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

Sources

Pathways for Nemaline Myopathy 4

Sources

GO Terms for Nemaline Myopathy 4

Sources

Sources for Nemaline Myopathy 4

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

NEM4 MCID: NML005 MIFTS: 39	Nemaline Myopathy 4 (NEM4) Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Nemaline Myopathy 4 (NEM4)

Aliases & Classifications for Nemaline Myopathy 4

MalaCards integrated aliases for Nemaline Myopathy 4:

Characteristics:

Inheritance:

OMIM®:

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

Cochrane evidence based reviews: nemaline myopathy 4

Genetic Tests for Nemaline Myopathy 4

Genetic tests related to Nemaline Myopathy 4:

Anatomical Context for Nemaline Myopathy 4

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

Sources for Nemaline Myopathy 4