Nemaline Myopathy 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Nemaline Myopathy 2

MalaCards integrated aliases for Nemaline Myopathy 2:

Name: Nemaline Myopathy 2 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵ ⁴³ ¹⁴ ⁷¹

Nemaline Myopathy 2, Autosomal Recessive ⁵⁷ ¹¹ ¹²

Nem2 ⁵⁷ ¹¹ ⁷³

Neb-Related Nemaline Myopathy ⁷³

Myopathy, Nemaline, Type 2 ³⁸

Nemaline Myopathy, Type 2 ⁷⁵

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in infancy
highly variable severity
extraocular muscles are not involved
slowly progressive or nonprogressive course
many adults with typical form remain ambulatory

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 2

OMIM®: ⁵⁷ Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006). (256030) (Updated 08-Dec-2022)

MalaCards based summary: Nemaline Myopathy 2, also known as nemaline myopathy 2, autosomal recessive, is related to nemaline myopathy and myopathy, and has symptoms including waddling gait, generalized muscle weakness and facial paresis. An important gene associated with Nemaline Myopathy 2 is NEB (Nebulin), and among its related pathways/superpathways are Metabolism of nucleotides and Pyrimidine metabolism. Affiliated tissues include skeletal muscle, colon and lung, and related phenotypes are dysarthria and high palate

UniProtKB/Swiss-Prot: ⁷³ 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.

Disease Ontology: ¹¹ A nemaline myopathy that has material basis in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.

Wikipedia: ⁷⁵ Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary... more...

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Related Diseases for Nemaline Myopathy 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)

#	Related Disease	Score	Top Affiliating Genes
1	nemaline myopathy	30.4	RIF1 NEB KLHL41 ACTA1
2	myopathy	29.2	TPM3 NEB MYPN MEGF10 LMOD3 KLHL41
3	batten-turner congenital myopathy	28.8	TPM3 NEB MYPN MEGF10 LMOD3 KLHL41
4	arthrogryposis multiplex congenita 6	10.3	RIF1 NEB
5	neuronopathy, distal hereditary motor, type iia	10.2	LMOD3 KLHL40
6	locked-in syndrome	10.2	LMOD3 KLHL40
7	king-denborough syndrome	10.2	KLHL40 KBTBD13
8	endometrium carcinoma in situ	10.2	NME2 NME1-NME2
9	cap myopathy	10.2	TPM3 MYPN
10	rhabdomyolysis-myalgia syndrome	10.2	MEGF10 KBTBD13
11	spinal muscular atrophy type 0	10.2	LMOD3 KLHL41 KLHL40
12	myopathy, myofibrillar, 4	10.2	NEB MYPN
13	nemaline myopathy 11, autosomal recessive	10.2	MYPN LMOD3 KLHL40
14	myopathy, spheroid body	10.2	NEB MYPN LMOD3
15	myopathy, distal, 1	10.1	NEB KBTBD13 ACTA1
16	central core disease of muscle	10.1	NEB KBTBD13 ACTA1
17	hyaline body myopathy	10.1	NEB ACTA1
18	nemaline myopathy 9	10.1	LMOD3 KLHL41 KLHL40 KBTBD13
19	myopathy, myofibrillar, 3	10.1	NEB MYPN
20	multiple pterygium syndrome, escobar variant	10.1	NEB LMOD3 KLHL41 KLHL40
21	carey-fineman-ziter syndrome 1	10.1	MEGF10 KLHL40
22	myopathy, congenital, with fiber-type disproportion	10.1	TPM3 ACTA1
23	myopathy, centronuclear, 1	10.1	LMOD3 KLHL40 ACTA1
24	centronuclear myopathy	10.1	NEB KLHL40 KBTBD13 ACTA1
25	rigid spine muscular dystrophy 1	10.1	NEB MEGF10 ACTA1
26	endocardial fibroelastosis	10.0	NEB MYPN
27	congenital myasthenic syndrome	10.0	NEB KLHL40 KBTBD13 ACTA1
28	nemaline myopathy 5	10.0	TNNI1 NEB LMOD3 KBTBD13
29	intermediate congenital nemaline myopathy	10.0	TPM3 NEB KLHL41 ACTA1
30	cardiomyopathy, dilated, 1ff	10.0	LMOD3 KBTBD13 CFL2 ACTA1
31	cardiomyopathy, dilated, 2a	10.0	LMOD3 KBTBD13 CFL2 ACTA1
32	neuromuscular disease	10.0	NEB KLHL40 KBTBD13 ACTA1
33	nemaline myopathy 10	10.0	MYPN LMOD3 KLHL41 KLHL40 KBTBD13
34	severe congenital nemaline myopathy	10.0	NEB LMOD3 KLHL41 KLHL40 ACTA1
35	hypotonia	10.0
36	typical congenital nemaline myopathy	9.9	NEB LMOD3 KLHL41 CFL2 ACTA1
37	nemaline myopathy 8	9.9	NEB MYPN LMOD3 KLHL41 KLHL40 KBTBD13
38	myofibrillar myopathy	9.9	NEB MYPN KLHL40 CFL2 ACTA1
39	cardiomyopathy, familial hypertrophic, 1	9.9	TNNI1 NEB MYPN ACTA1
40	multiminicore disease	9.9	NEB MEGF10 KBTBD13 CFL2 ACTA1
41	respiratory failure	9.8	MYPN MEGF10 LMOD3 KLHL40 ACTA1
42	childhood-onset nemaline myopathy	9.8	TPM3 NEB MYPN KLHL41 KBTBD13 ACTA1
43	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	9.7	TPM3 TNNI1 NEB KBTBD13 CFL2 ACTA1
44	distal arthrogryposis	9.7	TPM3 NEB LMOD3 KLHL41 KLHL40 KBTBD13
45	congenital structural myopathy	9.5	TPM3 NEB MYPN LMOD3 KLHL41 KLHL40
46	dilated cardiomyopathy	9.4	TNNI1 NEB MYPN CFL2 ACTA1
47	congenital fiber-type disproportion	9.2	TPM3 TNNI1 NEB MEGF10 LMOD3 KLHL41

Graphical network of the top 20 diseases related to Nemaline Myopathy 2:

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Symptoms & Phenotypes for Nemaline Myopathy 2

Human phenotypes related to Nemaline Myopathy 2:

³⁰ (show top 50) (show all 53)

#	Description	HPO Frequency	HPO Source Accession
1	dysarthria ³⁰	Very rare (1%)	HP:0001260
2	high palate ³⁰	Very rare (1%)	HP:0000218
3	rimmed vacuoles ³⁰	Very rare (1%)	HP:0003805
4	easy fatigability ³⁰	Very rare (1%)	HP:0003388
5	nemaline bodies ³⁰	Very rare (1%)	HP:0003798
6	narrow mouth ³⁰	Very rare (1%)	HP:0000160
7	steppage gait ³⁰	Very rare (1%)	HP:0003376
8	foot dorsiflexor weakness ³⁰	Very rare (1%)	HP:0009027
9	myopathic facies ³⁰	Very rare (1%)	HP:0002058
10	weakness of facial musculature ³⁰	Very rare (1%)	HP:0030319
11	frequent falls ³⁰	Very rare (1%)	HP:0002359
12	increased variability in muscle fiber diameter ³⁰	Very rare (1%)	HP:0003557
13	thenar muscle atrophy ³⁰	Very rare (1%)	HP:0003393
14	muscle fiber splitting ³⁰	Very rare (1%)	HP:0003555
15	fatty replacement of skeletal muscle ³⁰	Very rare (1%)	HP:0012548
16	calf muscle pseudohypertrophy ³⁰	Very rare (1%)	HP:0003707
17	sternocleidomastoid amyotrophy ³⁰	Very rare (1%)	HP:0012036
18	scoliosis ³⁰		HP:0002650
19	dysphagia ³⁰		HP:0002015
20	hyperlordosis ³⁰		HP:0003307
21	hypertelorism ³⁰		HP:0000316
22	neonatal hypotonia ³⁰		HP:0001319
23	flexion contracture ³⁰		HP:0001371
24	cleft palate ³⁰		HP:0000175
25	low-set ears ³⁰		HP:0000369
26	waddling gait ³⁰		HP:0002515
27	spinal rigidity ³⁰		HP:0003306
28	emg: myopathic abnormalities ³⁰		HP:0003458
29	respiratory insufficiency due to muscle weakness ³⁰		HP:0002747
30	motor delay ³⁰		HP:0001270
31	type 1 muscle fiber predominance ³⁰		HP:0003803
32	slender build ³⁰		HP:0001533
33	polyhydramnios ³⁰		HP:0001561
34	talipes ³⁰		HP:0001883
35	long philtrum ³⁰		HP:0000343
36	areflexia ³⁰		HP:0001284
37	apnea ³⁰		HP:0002104
38	decreased fetal movement ³⁰		HP:0001558
39	hyporeflexia ³⁰		HP:0001265
40	arthrogryposis multiplex congenita ³⁰		HP:0002804
41	feeding difficulties ³⁰		HP:0011968
42	limb muscle weakness ³⁰		HP:0003690
43	generalized muscle weakness ³⁰		HP:0003324
44	hand clenching ³⁰		HP:0001188
45	proximal muscle weakness ³⁰		HP:0003701
46	mildly elevated creatine kinase ³⁰		HP:0008180
47	inability to walk ³⁰		HP:0002540
48	bulbar palsy ³⁰		HP:0001283
49	emg: neuropathic changes ³⁰		HP:0003445
50	neck flexor weakness ³⁰		HP:0003722

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Abdomen Gastrointestinal:
dysphagia
poor feeding

Respiratory:
respiratory insufficiency due to muscle weakness

Neurologic Central Nervous System:
areflexia
hyporeflexia
delayed motor development
absent gag reflex
slow gross motor activity
more

Head And Neck Mouth:
high-arched palate

Head And Neck Neck:
neck flexor muscle weakness

Chest External Features:
chest deformities

Skeletal Spine:
hyperlordosis
scoliosis (onset around puberty)
rigid spine

Muscle Soft Tissue:
type 1 muscle fiber predominance
neck muscle weakness
frequent falls
facial muscle weakness
hypotonia, neonatal
more

Head And Neck Face:
myopathic facies
facial muscle weakness

Skeletal:
joint contractures
joint deformities (may develop over time)

Laboratory Abnormalities:
normal or mildly increased serum creatine kinase

Clinical features from OMIM®:

256030 (Updated 08-Dec-2022)

UMLS symptoms related to Nemaline Myopathy 2:

waddling gait; generalized muscle weakness; facial paresis

MGI Mouse Phenotypes related to Nemaline Myopathy 2:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.85	ACTA1 CFL2 KBTBD13 KLHL40 KLHL41 LMOD3
2	growth/size/body region	MP:0005378	9.8	ACTA1 ANAPC15 CFL2 CMPK1 KBTBD13 KLHL40
3	mortality/aging	MP:0010768	9.44	ACTA1 ANAPC15 CFL2 CMPK1 KLHL40 KLHL41

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Drugs & Therapeutics for Nemaline Myopathy 2

Search Clinical Trials, NIH Clinical Center for Nemaline Myopathy 2

Cochrane evidence based reviews: nemaline myopathy 2

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Genetic Tests for Nemaline Myopathy 2

Genetic tests related to Nemaline Myopathy 2:

#	Genetic test	Affiliating Genes
1	Nemaline Myopathy 2 ²⁸	NEB

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Anatomical Context for Nemaline Myopathy 2

Organs/tissues related to Nemaline Myopathy 2:

MalaCards : Skeletal Muscle, Colon, Lung, Brain

ODiseA: Skeletal Muscle

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Publications for Nemaline Myopathy 2

Articles related to Nemaline Myopathy 2:

(show top 50) (show all 76)

#	Title	Authors	PMID	Year
1	Mutation update: the spectra of nebulin variants and associated myopathies. ⁵⁷ ⁵	Lehtokari VL...Wallgren-Pettersson C	25205138	2014
2	Core-rod myopathy caused by mutations in the nebulin gene. ⁵⁷ ⁵	Romero NB...Wallgren-Pettersson C	19805734	2009
3	Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. ⁵⁷ ⁵	Ottenheijm CA...Granzier H	19346529	2009
4	The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. ⁵⁷ ⁵	Lehtokari VL...Wallgren-Pettersson C	19232495	2009
5	Distal myopathy caused by homozygous missense mutations in the nebulin gene. ⁵⁷ ⁵	Wallgren-Pettersson C...Udd B	17525139	2007
6	Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. ⁵⁷ ⁵	Lehtokari VL...Wallgren-Pettersson C	16917880	2006
7	Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. ⁵⁷ ⁵	Anderson SL...Rubin BY	15221447	2004
8	Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. ⁵⁷ ⁵	Pelin K...Wallgren-Pettersson C	10051637	1999
9	Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. ⁶² ⁵	Gajda A...Sztriha L	24056153	2015
10	Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). ⁶² ⁵	Ottenheijm CA...Granzier H	19944167	2010
11	Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy. ⁶² ⁵⁷	Pelin K...Wallgren-Petterson C	9359044	1997
12	A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. ⁶² ⁵⁷	Wallgren-Pettersson C...Van Langen IM	8580725	1995
13	Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network. ⁵	Denomme-Pichon AS...Thauvin-Robinet C	34782754	2022
14	Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. ⁵	Topf A...Straub V	32528171	2020
15	Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. ⁵	Wang Q...Wang Z	32222963	2020
16	RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. ⁵	Hamanaka K...Matsumoto N	30467404	2019
17	Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. ⁵	Pagnamenta AT...Stewart H	30859559	2019
18	Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. ⁵	Kiiski KJ...Udd B	30679003	2019
19	Characterization of congenital myopathies at a Korean neuromuscular center. ⁵	Park YE...Kim DS	29669168	2018
20	A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes. ⁵	Zenagui R...Cossee M	29792937	2018
21	Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene. ⁵	Wunderlich G...Cirak S	30057997	2018
22	Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. ⁵	Wu L...Tarnopolsky MA	29382405	2018
23	Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark. ⁵	Witting N...Vissing J	28357410	2017
24	Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. ⁵	Cummings BB...MacArthur DG	28424332	2017
25	Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. ⁵	Arno G...Webster AR	28132693	2017
26	Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. ⁵	Feingold-Zadok M...Reish O	27933661	2017
27	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
28	Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. ⁵	Kitamura Y...Saito K	27357428	2016
29	New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. ⁵	Piga D...Comi GP	27105866	2016
30	New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. ⁵	Oliveira J...Sousa M	26841830	2016
31	Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. ⁵	Punetha J...Hoffman EP	27854218	2016
32	A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. ⁵	Kiiski K...Pelin K	26197980	2016
33	NEB-related core-rod myopathy with distinct clinical and pathological features. ⁵	Park YE...Kim DS	26562614	2016
34	Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. ⁵	Levesque S...Kishnani P	26809617	2016
35	One in seven colorectal cancer patients is under 50, US study shows. ⁵	Wise J	26809612	2016
36	Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. ⁵	Todd EJ...Ravenscroft G	26578207	2015
37	Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy. ⁵	Malfatti E...Romero NB	26403434	2015
38	Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. ⁵	Farwell KD...Tang S	25356970	2015
39	Potential toxicity of pesticides in freshwater environments: passive sampling, exposure and impacts on biofilms: the PoToMAC project. ⁵	Margoum C...Mazzella N	25205148	2015
40	RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. ⁵	Xiong HY...Frey BJ	25525159	2015
41	Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. ⁵	Soden SE...Kingsmore SF	25473036	2014
42	Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. ⁵	Piteau SJ...MacKenzie JJ	25079567	2014
43	Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. ⁵	Malfatti E...Romero NB	24725366	2014
44	Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. ⁵	Marttila M...Pelin K	25110572	2014
45	Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders. ⁵	Chen Z...Jiang H	23726790	2013
46	Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. ⁵	Ottenheijm CA...Granzier H	23715096	2013
47	Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. ⁵	de Winter JM...Granzier H	23572184	2013
48	Targeted array comparative genomic hybridization--a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes. ⁵	Kiiski K...Pelin K	23010307	2013
49	Expression of multiple nebulin isoforms in human skeletal muscle and brain. ⁵	Laitila J...Pelin K	22941678	2012
50	Active human retrotransposons: variation and disease. ⁵	Hancks DC...Kazazian HH	22406018	2012

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Genes for Nemaline Myopathy 2

Genes related to Nemaline Myopathy 2 (2 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NEB	Nebulin	Protein Coding	1049.33	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	9536098 10051637 12207938 (more) 15221447 15336686 16199547 16917880 17525139 17576681 19232495 19346529 19763152 19805734 19944167 20307669 21520333 22367672 22406018 23572184 23715096 23726790 24056153 24725366 25079567 25110572 25205138 25205148 25525159 26197980 26403434 26562614 26578207 26809612 26809617 26841830 27105866 27854218 27933661 28424332 29172004 29382405 29792937 30057997 30679003 30859559 32222963 32528171 22941678 23010307 25356970 27357428 28357410 34782754
2	RIF1	Replication Timing Regulatory Factor 1	Protein Coding	425	Pathogenic/Likely pathogenic ⁵ Likely pathogenic ⁵	9536098 10051637 12207938 (more) 15336686 16199547 16917880 17525139 17576681 19805734 21520333 23726790 24056153 24725366 25110572 25205138 26197980 26403434 26562614 26809612 26809617 27105866 29382405 32222963 32528171 22941678 25356970 27357428
3	KLHL40	Kelch Like Family Member 40	Protein Coding	5.92	DISEASES inferred ¹⁴
4	KBTBD13	Kelch Repeat And BTB Domain Containing 13	Protein Coding	5.84	DISEASES inferred ¹⁴
5	LMOD3	Leiomodin 3	Protein Coding	5.82	DISEASES inferred ¹⁴
6	NME2	NME/NM23 Nucleoside Diphosphate Kinase 2	Protein Coding	5.69	DISEASES inferred ¹⁴
7	CMPK1	Cytidine/Uridine Monophosphate Kinase 1	Protein Coding	5.59	DISEASES inferred ¹⁴
8	ANAPC15	Anaphase Promoting Complex Subunit 15	Protein Coding	5.57	DISEASES inferred ¹⁴
9	KLHL41	Kelch Like Family Member 41	Protein Coding	5.4	DISEASES inferred ¹⁴
10	MYPN	Myopalladin	Protein Coding	5.38	DISEASES inferred ¹⁴
11	TPM3	Tropomyosin 3	Protein Coding	5.29	DISEASES inferred ¹⁴
12	CFL2	Cofilin 2	Protein Coding	5.28	DISEASES inferred ¹⁴
13	NME1-NME2	NME1-NME2 Readthrough	Protein Coding	5.26	DISEASES inferred ¹⁴
14	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	5.24	DISEASES inferred ¹⁴
15	MEGF10	Multiple EGF Like Domains 10	Protein Coding	5.19	DISEASES inferred ¹⁴
16	TNNI1	Troponin I1, Slow Skeletal Type	Protein Coding	5.04	DISEASES inferred ¹⁴
17	NME1	NME/NM23 Nucleoside Diphosphate Kinase 1	Protein Coding	4.99	DISEASES inferred ¹⁴
18	MMEL1	Membrane Metalloendopeptidase Like 1	Protein Coding	4.95	DISEASES inferred ¹⁴
19	ORC4	Origin Recognition Complex Subunit 4	Protein Coding	4.94	DISEASES inferred ¹⁴
20	ZIC1	Zic Family Member 1	Protein Coding	4.92	DISEASES inferred ¹⁴
21	MMADHC	Metabolism Of Cobalamin Associated D	Protein Coding	4.75	DISEASES inferred ¹⁴
22	ACER3	Alkaline Ceramidase 3	Protein Coding	4.73	DISEASES inferred ¹⁴

Sources

Variations for Nemaline Myopathy 2

ClinVar genetic disease variations for Nemaline Myopathy 2:

⁵ (show top 50) (show all 5960)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NEB	NC_000002.12:g.(?_151645758)_(151648259_?)del	DEL	Pathogenic	652384		GRCh37: 2:152502272-152504773 GRCh38: 2:151645758-151648259
2	NEB	NC_000002.12:g.(?_151646120)_(151646244_?)del	DEL	Pathogenic	652395		GRCh37: 2:152502634-152502758 GRCh38: 2:151646120-151646244
3	NEB	NC_000002.12:g.(?_151646110)_(151646254_?)del	DEL	Pathogenic	665633		GRCh37: 2:152502624-152502768 GRCh38: 2:151646110-151646254
4	NEB	GRCh37/hg19 2q23.3(chr2:152502644-152502748)	CN LOSS	Pathogenic	813318		GRCh37: 2:152502644-152502748 GRCh38:
5	NEB	NC_000002.12:g.(?_151614266)_(151697658_?)del	DEL	Pathogenic	831138		GRCh37: 2:152470780-152554172 GRCh38:
6	overlap with 3 genes	NC_000002.12:g.(?_151485750)_(151957616_?)del	DEL	Pathogenic	833295		GRCh37: 2:152342264-152814130 GRCh38:
7	NEB	NM_001271208.2(NEB):c.18696_18697insSVAelement	INSERT	Pathogenic	870236		GRCh37: 2:152419319-152419320 GRCh38: 2:151562805-151562806
8	NEB	NC_000002.11:g.(?_152524298)_(152525665_?)del	DEL	Pathogenic	1069477		GRCh37: 2:152524298-152525665 GRCh38:
9	NEB	NC_000002.11:g.(?_152417188)_152418728del	DEL	Pathogenic	1069478		GRCh37: GRCh38:
10	NEB	NC_000002.11:g.(?_152482028)_(152567072_?)del	DEL	Pathogenic	1457908		GRCh37: 2:152482028-152567072 GRCh38:
11	NEB, RIF1	NM_001164508.2(NEB):c.22641del (p.Met7547fs)	DEL	Pathogenic	14046	rs1057515573	GRCh37: 2:152375533-152375533 GRCh38: 2:151519019-151519019
12	NEB, RIF1	NM_001164508.2(NEB):c.23395_23398dup (p.Leu7800fs)	DUP	Pathogenic	14047	rs1057515574	GRCh37: 2:152364571-152364572 GRCh38: 2:151508057-151508058
13	NEB, RIF1	NM_001164508.2(NEB):c.25174G>T (p.Glu8392Ter)	SNV	Pathogenic	14050	rs121913662	GRCh37: 2:152347009-152347009 GRCh38: 2:151490495-151490495
14	NEB, RIF1	NM_001164508.2(NEB):c.22479+1G>C	SNV	Pathogenic	14051	rs1057515575	GRCh37: 2:152380824-152380824 GRCh38: 2:151524310-151524310
15	NEB	NM_001164508.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs)	INDEL	Pathogenic	129704	rs587780397	GRCh37: 2:152409927-152409931 GRCh38: 2:151553413-151553417
16	NEB	NM_001164508.2(NEB):c.3774+1G>A	SNV	Pathogenic	211588	rs111293259	GRCh37: 2:152534078-152534078 GRCh38: 2:151677564-151677564
17	NEB	NM_001164508.2(NEB):c.18597del (p.Tyr6200fs)	DEL	Pathogenic	211583	rs797045735	GRCh37: 2:152420216-152420216 GRCh38: 2:151563702-151563702
18	NEB	NC_000002.11:g.(?_152380815)_(152384109_?)del	DEL	Pathogenic	1459336		GRCh37: 2:152380815-152384109 GRCh38:
19	NEB	NM_001164508.2(NEB):c.294+2T>C	SNV	Pathogenic	287422	rs773952935	GRCh37: 2:152584203-152584203 GRCh38: 2:151727689-151727689
20	NEB	NM_001164508.2(NEB):c.3987+1G>A	SNV	Pathogenic	371210	rs780022652	GRCh37: 2:152530990-152530990 GRCh38: 2:151674476-151674476
21	NEB, RIF1	NM_001164508.2(NEB):c.24996del (p.Gln8333fs)	DEL	Pathogenic	435969	rs1553526884	GRCh37: 2:152348673-152348673 GRCh38: 2:151492159-151492159
22	NEB	NM_001164508.2(NEB):c.1471-1G>A	SNV	Pathogenic	435970	rs1553605995	GRCh37: 2:152553250-152553250 GRCh38: 2:151696736-151696736
23	NEB	NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)	SNV	Pathogenic	450119	rs776569219	GRCh37: 2:152468878-152468878 GRCh38: 2:151612364-151612364
24	NEB	NM_001164508.2(NEB):c.5722del (p.Ser1908fs)	DEL	Pathogenic	465618	rs1553484601	GRCh37: 2:152520103-152520103 GRCh38: 2:151663589-151663589
25	NEB	NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)	SNV	Pathogenic	465594	rs1553548666	GRCh37: 2:152539199-152539199 GRCh38: 2:151682685-151682685
26	NEB	NM_001164508.2(NEB):c.12684T>G (p.Tyr4228Ter)	SNV	Pathogenic	465462	rs1553875421	GRCh37: 2:152463183-152463183 GRCh38: 2:151606669-151606669
27	NEB	NM_001164508.2(NEB):c.9726_9727insAT (p.Leu3243fs)	INSERT	Pathogenic	465655	rs1553934562	GRCh37: 2:152486157-152486158 GRCh38: 2:151629643-151629644
28	NEB	NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)	SNV	Pathogenic	235402	rs201553266	GRCh37: 2:152408252-152408252 GRCh38: 2:151551738-151551738
29	NEB, RIF1	NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)	DUP	Pathogenic	465579	rs781667543	GRCh37: 2:152354227-152354228 GRCh38: 2:151497713-151497714
30	NEB	NM_001164508.2(NEB):c.6076-2A>C	SNV	Pathogenic	465621	rs1553469514	GRCh37: 2:152514606-152514606 GRCh38: 2:151658092-151658092
31	NEB, RIF1	NM_001164508.2(NEB):c.24143del (p.Gly8048fs)	DEL	Pathogenic	465578	rs1553556154	GRCh37: 2:152354838-152354838 GRCh38: 2:151498324-151498324
32	NEB	NM_001164508.2(NEB):c.11585_11586delinsC (p.Tyr3862fs)	INDEL	Pathogenic	465439	rs1553896522	GRCh37: 2:152470805-152470806 GRCh38: 2:151614291-151614292
33	NEB	NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile)	SNV	Pathogenic	496132	rs191579691	GRCh37: 2:152417726-152417726 GRCh38: 2:151561212-151561212
34	NEB, RIF1	NM_001164508.2(NEB):c.22144A>C (p.Thr7382Pro)	SNV	Pathogenic	506284	rs761232641	GRCh37: 2:152382489-152382489 GRCh38: 2:151525975-151525975
35	NEB, RIF1	NM_001164508.2(NEB):c.21504del (p.Asn7169fs)	DEL	Pathogenic	533964	rs934955715	GRCh37: 2:152388324-152388324 GRCh38: 2:151531810-151531810
36	NEB, RIF1	NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)	DEL	Pathogenic	533968	rs934111355	GRCh37: 2:152353506-152353509 GRCh38: 2:151496992-151496995
37	NEB, RIF1	NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs)	DUP	Pathogenic	533980	rs762133567	GRCh37: 2:152352877-152352878 GRCh38: 2:151496363-151496364
38	NEB	NM_001164508.2(NEB):c.4652del (p.Gly1551fs)	DEL	Pathogenic	533982	rs1553502168	GRCh37: 2:152524385-152524385 GRCh38: 2:151667871-151667871
39	NEB, RIF1	NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)	DUP	Pathogenic	533994	rs1553555882	GRCh37: 2:152354788-152354789 GRCh38: 2:151498274-151498275
40	NEB, RIF1	NM_001164508.2(NEB):c.24996_24999delinsATTCAA (p.Gln8333fs)	INDEL	Pathogenic	533995	rs1553526832	GRCh37: 2:152348670-152348673 GRCh38: 2:151492156-151492159
41	NEB	NM_001164508.2(NEB):c.13704T>A (p.Tyr4568Ter)	SNV	Pathogenic	534017	rs1553862274	GRCh37: 2:152457040-152457040 GRCh38: 2:151600526-151600526
42	NEB	NM_001164508.2(NEB):c.17845-1G>A	SNV	Pathogenic	534004	rs1371849916	GRCh37: 2:152423994-152423994 GRCh38: 2:151567480-151567480
43	NEB	NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)	SNV	Pathogenic	190457	rs769345284	GRCh37: 2:152394412-152394412 GRCh38: 2:151537898-151537898
44	NEB, RIF1	NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)	SNV	Pathogenic	496134	rs1458048713	GRCh37: 2:152355813-152355813 GRCh38: 2:151499299-151499299
45	NEB	NM_001164508.2(NEB):c.20845dup (p.Thr6949fs)	DUP	Pathogenic	551753	rs1553695209	GRCh37: 2:152396904-152396905 GRCh38: 2:151540390-151540391
46	NEB, RIF1	NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)	DEL	Pathogenic	265493	rs555445835	GRCh37: 2:152350726-152350727 GRCh38: 2:151494212-151494213
47	NEB	NM_001164508.2(NEB):c.2943+1G>A	SNV	Pathogenic	551899	rs113091511	GRCh37: 2:152539175-152539175 GRCh38: 2:151682661-151682661
48	NEB, RIF1	NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs)	MICROSAT	Pathogenic	552108	rs755863625	GRCh37: 2:152350704-152350705 GRCh38: 2:151494190-151494191
49	NEB, RIF1	NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs)	DEL	Pathogenic	552268	rs747564597	GRCh37: 2:152354170-152354173 GRCh38: 2:151497656-151497659
50	NEB	NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter)	SNV	Pathogenic	553116	rs754369875	GRCh37: 2:152419208-152419208 GRCh38: 2:151562694-151562694

Sources

Expression for Nemaline Myopathy 2

Search GEO for disease gene expression data for Nemaline Myopathy 2.

Sources

Pathways for Nemaline Myopathy 2

Pathways related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:

(show all 13)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of nucleotides ⁶⁶ Show member pathways adenosine nucleotides degradation ⁶¹ adenosine nucleotides degradation II ⁶¹ adenosine ribonucleotides de novo biosynthesis ⁶¹ guanosine ribonucleotides de novo biosynthesis ⁶¹ Nucleotide biosynthesis ⁶⁶ Nucleotide catabolism ⁶⁶ oxidized GTP and dGTP detoxification ⁶¹ Phosphate bond hydrolysis by NTPDase proteins ⁶⁶ Phosphate bond hydrolysis by NUDT proteins ⁶⁶ Purine catabolism ⁶⁶ purine deoxyribonucleosides salvage ⁶¹ purine nucleotides degradation ⁶¹ purine nucleotides degradation II (aerobic) ⁶¹ Purine ribonucleoside monophosphate biosynthesis ⁶⁶ Pyrimidine catabolism ⁶⁶ superpathway of adenosine nucleotides de novo biosynthesis I ⁶¹ superpathway of guanosine nucleotides de novo biosynthesis I ⁶¹ superpathway of purine nucleotide salvage ⁶¹	12.27	NME2 NME1-NME2 NME1 CMPK1
2	Pyrimidine metabolism ⁷⁴ Show member pathways CMP phosphorylation ⁶¹ pyrimidine deoxyribonucleosides salvage ⁶¹ pyrimidine deoxyribonucleotide phosphorylation ⁶¹ pyrimidine deoxyribonucleotides de novo biosynthesis I ⁶¹ superpathway of pyrimidine deoxyribonucleoside salvage ⁶¹ superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis ⁶¹ superpathway of pyrimidine ribonucleotides de novo biosynthesis ⁶¹ UTP and CTP de novo biosynthesis ⁶¹	11.71	NME2 NME1-NME2 NME1 CMPK1
3	ATP/ITP metabolism ²²	11.56	NME2 NME1-NME2 NME1
4	Validated targets of C-MYC transcriptional activation ⁶¹	11.51	NME2 NME1-NME2 NME1
5	purine nucleotides de novo biosynthesis ⁶¹ Show member pathways guanosine nucleotides de novo biosynthesis ⁶¹ Interconversion of nucleotide di- and triphosphates ⁶⁶ superpathway of purine nucleotides de novo biosynthesis I ⁶¹	11.41	NME2 NME1-NME2 NME1 CMPK1
6	Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰ Show member pathways Azathioprine ADME ⁶⁶	11.25	NME2 NME1-NME2 NME1
7	pyrimidine deoxyribonucleotides biosynthesis from CTP ⁶¹ Show member pathways adenosine deoxyribonucleotides de novo biosynthesis ⁶¹ guanosine deoxyribonucleotides de novo biosynthesis ⁶¹ guanosine deoxyribonucleotides de novo biosynthesis I ⁶¹ pyrimidine deoxyribonucleotides de novo biosynthesis ⁶¹	11.15	NME2 NME1-NME2 NME1
8	Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.83	NME2 NME1
9	Striated muscle contraction pathway ⁷⁴ Show member pathways Striated Muscle Contraction ⁶⁶	10.79	TPM3 TNNI1 NEB ACTA1
10	Remdesivir Pathway, Pharmacokinetics ⁶⁰ Show member pathways adenine and adenosine salvage VI ⁶¹ Sofosbuvir Pathway, Pharmacokinetics ⁶⁰	10.61	NME1 CMPK1
11	Abacavir Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.59	NME2 NME1
12	Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.39	NME2 NME1 CMPK1
13	Tenofovir/Adefovir Pathway, Pharmacokinetics ⁶⁰	10.31	NME2 NME1

Sources

GO Terms for Nemaline Myopathy 2

Cellular components related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	10.02	TPM3 RIF1 NEB LMOD3 KLHL41 CFL2
2	striated muscle thin filament	GO:0005865	9.46	LMOD3 ACTA1
3	A band	GO:0031672	9.43	LMOD3 KLHL40
4	sarcomere	GO:0030017	9.26	NEB MYPN ACTA1
5	I band	GO:0031674	9.1	MYPN KLHL40 CFL2

Biological processes related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	actin filament organization	GO:0007015	10	TPM3 LMOD3 KBTBD13 CFL2
2	muscle contraction	GO:0006936	9.97	TPM3 TNNI1 LMOD3 ACTA1
3	sarcomere organization	GO:0045214	9.91	MYPN KLHL41 CFL2
4	myofibril assembly	GO:0030239	9.81	LMOD3 KLHL41
5	nucleoside triphosphate biosynthetic process	GO:0009142	9.8	NME2 CMPK1
6	skeletal muscle thin filament assembly	GO:0030240	9.78	LMOD3 ACTA1
7	GTP biosynthetic process	GO:0006183	9.72	NME1 NME1-NME2 NME2
8	CTP biosynthetic process	GO:0006241	9.65	NME1 NME1-NME2 NME2
9	nucleotide metabolic process	GO:0009117	9.58	NME2 NME1 CMPK1
10	skeletal muscle fiber development	GO:0048741	9.56	LMOD3 KLHL41 KLHL40 ACTA1
11	UTP biosynthetic process	GO:0006228	9.55	NME2 NME1-NME2 NME1
12	nucleoside diphosphate phosphorylation	GO:0006165	9.17	CMPK1 NME1 NME1-NME2 NME2

Molecular functions related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	actin filament binding	GO:0051015	9.76	TPM3 NEB KBTBD13 CFL2
2	actin binding	GO:0003779	9.5	TPM3 TNNI1 NEB MYPN CFL2
3	nucleoside diphosphate kinase activity	GO:0004550	9.17	NME2 NME1-NME2 NME1 CMPK1

Sources

Sources for Nemaline Myopathy 2

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

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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

NEM2 MCID: NML003 MIFTS: 55	Nemaline Myopathy 2 (NEM2) 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 2 (NEM2)

Aliases & Classifications for Nemaline Myopathy 2

MalaCards integrated aliases for Nemaline Myopathy 2:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Nemaline Myopathy 2

Related Diseases for Nemaline Myopathy 2

Diseases in the Nemaline Myopathy family:

Diseases related to Nemaline Myopathy 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Nemaline Myopathy 2:

Symptoms & Phenotypes for Nemaline Myopathy 2

Human phenotypes related to Nemaline Myopathy 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Nemaline Myopathy 2:

MGI Mouse Phenotypes related to Nemaline Myopathy 2:

Drugs & Therapeutics for Nemaline Myopathy 2

Cochrane evidence based reviews: nemaline myopathy 2

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Anatomical Context for Nemaline Myopathy 2

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Genes for Nemaline Myopathy 2

Genes related to Nemaline Myopathy 2 (2 elite genes):

Variations for Nemaline Myopathy 2

ClinVar genetic disease variations for Nemaline Myopathy 2:

Expression for Nemaline Myopathy 2

Pathways for Nemaline Myopathy 2

Pathways related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:

GO Terms for Nemaline Myopathy 2

Cellular components related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:

Biological processes related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:

Molecular functions related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:

Sources for Nemaline Myopathy 2