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

NEM2 MCID: NML003 MIFTS: 51	Nemaline Myopathy 2 (NEM2) Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Nemaline Myopathy 2

MalaCards integrated aliases for Nemaline Myopathy 2:

Name: Nemaline Myopathy 2 ⁵⁷ ¹² ⁷² ²⁹ ⁶ ¹⁵ ⁷⁰

Nemaline Myopathy 2, Autosomal Recessive ⁵⁷ ¹² ¹³

Nem2 ⁵⁷ ¹² ⁷²

Neb-Related Nemaline Myopathy ⁷²

Myopathy, Nemaline, Type 2 ³⁹

Nemaline Myopathy, Type 2 ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
extraocular muscles are not involved
highly variable severity, ranging from 'typical' to 'severe' disease
slowly progressive or nonprogressive course
many adults with typical form remain ambulatory
death at birth or within first 2 years of life (severe form)

HPO:

³¹

nemaline myopathy 2:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile 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:0110928

OMIM® ⁵⁷ 256030

OMIM Phenotypic Series ⁵⁷ PS161800

MeSH ⁴⁴ D017696

MedGen ⁴¹ C1850569 CN187052

UMLS ⁷⁰ C1850569

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Summaries for Nemaline Myopathy 2

OMIM® : ⁵⁷ Nemaline myopathy-2 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 from the severe form with perinatal onset and fetal death to milder forms with later onset. 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 20-May-2021)

MalaCards based summary : Nemaline Myopathy 2, also known as nemaline myopathy 2, autosomal recessive, is related to nemaline myopathy and batten-turner congenital 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 purine nucleotides de novo biosynthesis. Affiliated tissues include skeletal muscle, colon and brain, and related phenotypes are scoliosis and dysphagia

Disease Ontology : ¹² A nemaline myopathy that has material basis in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.

UniProtKB/Swiss-Prot : ⁷² Nemaline myopathy 2: 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.

Wikipedia : ⁷³ 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 26)

#	Related Disease	Score	Top Affiliating Genes
1	nemaline myopathy	30.2	RIF1 NEB KLHL41 CFL2
2	batten-turner congenital myopathy	29.1	NEB LMOD3 KLHL41 KLHL40 KBTBD13 CFL2
3	myopathy	29.1	RIF1 NEB MYPN LMOD3 KLHL41 KLHL40
4	dysphagia	10.2	RIF1 NEB
5	endometrium carcinoma in situ	10.2	NME2 NME1-NME2
6	intermediate congenital nemaline myopathy	10.1	NEB KLHL41
7	myopathy, myofibrillar, 4	10.1	NEB MYPN
8	myopathy, spheroid body	10.0	NEB MYPN LMOD3
9	myopathy, myofibrillar, 1	10.0	NEB MYPN
10	nemaline myopathy 7	10.0	KBTBD13 CTPS1 CFL2
11	centronuclear myopathy	10.0	NEB KLHL40 KBTBD13
12	nemaline myopathy 8	9.9	LMOD3 KLHL40 KBTBD13
13	hypotonia	9.9
14	childhood-onset nemaline myopathy	9.9	NEB MYPN KLHL41 KBTBD13
15	myopathy, myofibrillar, 9, with early respiratory failure	9.9	NEB MYPN
16	typical congenital nemaline myopathy	9.9	NEB LMOD3 KLHL41 CFL2
17	nemaline myopathy 11, autosomal recessive	9.9	MYPN LMOD3 KLHL41 KBTBD13
18	severe congenital nemaline myopathy	9.7	NEB LMOD3 KLHL41 KLHL40
19	nemaline myopathy 9	9.7	LMOD3 KLHL41 KLHL40 KBTBD13
20	multiple pterygium syndrome, escobar variant	9.7	NEB LMOD3 KLHL41 KLHL40
21	nemaline myopathy 3	9.7	NEB LMOD3 KLHL41 KLHL40 KBTBD13
22	meier-gorlin syndrome 2	9.6	NXPH2 GTDC1
23	epilepsy, idiopathic generalized 9	9.6	NXPH2 GTDC1
24	congenital fiber-type disproportion	9.5	NEB LMOD3 KLHL41 KLHL40 KBTBD13 CFL2
25	nemaline myopathy 10	9.4	MYPN LMOD3 KLHL41 KLHL40 KBTBD13 CFL2
26	congenital structural myopathy	9.3	NEB MYPN LMOD3 KLHL41 KLHL40 KBTBD13

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:

³¹ (show all 41)

#	Description	HPO Source Accession
1	scoliosis ³¹	HP:0002650
2	dysphagia ³¹	HP:0002015
3	facial palsy ³¹	HP:0010628
4	high palate ³¹	HP:0000218
5	hyperlordosis ³¹	HP:0003307
6	hypertelorism ³¹	HP:0000316
7	neonatal hypotonia ³¹	HP:0001319
8	flexion contracture ³¹	HP:0001371
9	cleft palate ³¹	HP:0000175
10	low-set ears ³¹	HP:0000369
11	waddling gait ³¹	HP:0002515
12	spinal rigidity ³¹	HP:0003306
13	emg: myopathic abnormalities ³¹	HP:0003458
14	respiratory insufficiency due to muscle weakness ³¹	HP:0002747
15	motor delay ³¹	HP:0001270
16	type 1 muscle fiber predominance ³¹	HP:0003803
17	nemaline bodies ³¹	HP:0003798
18	slender build ³¹	HP:0001533
19	polyhydramnios ³¹	HP:0001561
20	talipes ³¹	HP:0001883
21	long philtrum ³¹	HP:0000343
22	areflexia ³¹	HP:0001284
23	apnea ³¹	HP:0002104
24	decreased fetal movement ³¹	HP:0001558
25	hyporeflexia ³¹	HP:0001265
26	arthrogryposis multiplex congenita ³¹	HP:0002804
27	feeding difficulties ³¹	HP:0011968
28	limb muscle weakness ³¹	HP:0003690
29	generalized muscle weakness ³¹	HP:0003324
30	mildly elevated creatine kinase ³¹	HP:0008180
31	hand clenching ³¹	HP:0001188
32	proximal muscle weakness ³¹	HP:0003701
33	frequent falls ³¹	HP:0002359
34	inability to walk ³¹	HP:0002540
35	bulbar palsy ³¹	HP:0001283
36	myopathic facies ³¹	HP:0002058
37	emg: neuropathic changes ³¹	HP:0003445
38	neck flexor weakness ³¹	HP:0003722
39	abnormal rib cage morphology ³¹	HP:0001547
40	late-onset distal muscle weakness ³¹	HP:0003810
41	mitochondrial depletion ³¹	HP:0030059

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Abdomen Gastrointestinal:
dysphagia
poor feeding

Respiratory:
respiratory insufficiency due to muscle weakness
absence of spontaneous respiration (severe form)

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

Head And Neck Mouth:
high-arched palate
cleft palate (severe form)

Head And Neck Neck:
neck flexor muscle weakness

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (severe form)
fetal hydrops (severe form)

Chest External Features:
chest deformities

Head And Neck Eyes:
hypertelorism (severe form)

Skeletal Feet:
talipes (severe form)

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

Muscle Soft Tissue:
type 1 muscle fiber predominance
frequent falls
neck muscle weakness
facial muscle weakness
distal limb muscle weakness occurs later
more

Head And Neck Face:
myopathic facies
facial muscle weakness
long philtrum (severe form)

Skeletal:
joint contractures
joint deformities (may develop over time)
arthrogryposis (severe form)

Prenatal Manifestations Movement:
decreased fetal movement (severe form)

Laboratory Abnormalities:
normal or mildly increased serum creatine kinase

Head And Neck Ears:
low-set ears (severe form)

Skeletal Hands:
clenched hands (severe form)

Clinical features from OMIM®:

256030 (Updated 20-May-2021)

UMLS symptoms related to Nemaline Myopathy 2:

waddling gait; generalized muscle weakness; facial paresis

MGI Mouse Phenotypes related to Nemaline Myopathy 2:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.17	CFL2 KBTBD13 KLHL40 KLHL41 LMOD3 MYPN

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Drugs & Therapeutics for Nemaline Myopathy 2

Search Clinical Trials , NIH Clinical Center for 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 ²⁹	NEB

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Anatomical Context for Nemaline Myopathy 2

MalaCards organs/tissues related to Nemaline Myopathy 2:

⁴⁰

Skeletal Muscle, Colon, Brain

Sources

Publications for Nemaline Myopathy 2

Articles related to Nemaline Myopathy 2:

(show top 50) (show all 62)

#	Title	Authors	PMID	Year
1	Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene. ⁶ ⁵⁷	Abdalla E...Laing NG	28336317	2017
2	Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. ⁵⁷ ⁶	Todd EJ...Ravenscroft G	26578207	2015
3	Mutation update: the spectra of nebulin variants and associated myopathies. ⁵⁷ ⁶	Lehtokari VL...Wallgren-Pettersson C	25205138	2014
4	Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy. ⁵⁷ ⁶	Yonath H...Pras E	22367672	2012
5	Core-rod myopathy caused by mutations in the nebulin gene. ⁶ ⁵⁷	Romero NB...Wallgren-Pettersson C	19805734	2009
6	Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. ⁵⁷ ⁶	Ottenheijm CA...Granzier H	19346529	2009
7	The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. ⁶ ⁵⁷	Lehtokari VL...Wallgren-Pettersson C	19232495	2009
8	Distal myopathy caused by homozygous missense mutations in the nebulin gene. ⁵⁷ ⁶	Wallgren-Pettersson C...Udd B	17525139	2007
9	Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. ⁵⁷ ⁶	Lehtokari VL...Wallgren-Pettersson C	16917880	2006
10	Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. ⁵⁷ ⁶	Anderson SL...Rubin BY	15221447	2004
11	Mutations in the nebulin gene can cause severe congenital nemaline myopathy. ⁶ ⁵⁷	Wallgren-Pettersson C...Pelin K	12207937	2002
12	Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. ⁵⁷ ⁶	Pelin K...Wallgren-Pettersson C	10051637	1999
13	Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. ⁶¹ ⁶	Gajda A...Sztriha L	24056153	2015
14	Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). ⁶ ⁶¹	Ottenheijm CA...Granzier H	19944167	2010
15	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. ⁵⁷ ⁶¹	Pelin K...Wallgren-Petterson C	9359044	1997
16	A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. ⁵⁷ ⁶¹	Wallgren-Pettersson C...Van Langen IM	8580725	1995
17	RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. ⁶	Hamanaka K...Matsumoto N	30467404	2019
18	Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. ⁶	Kiiski KJ...Udd B	30679003	2019
19	[Clinical, pathological and genetic studies of two cases of childhood-onset nemaline myopathy]. ⁶	Huang K...Luo YB	30369353	2018
20	Characterization of congenital myopathies at a Korean neuromuscular center. ⁶	Park YE...Kim DS	29669168	2018
21	Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. ⁶	Wu L...Tarnopolsky MA	29382405	2018
22	The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. ⁶	Monies D...Alkuraya FS	28600779	2017
23	Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. ⁶	Arno G...Webster AR	28132693	2017
24	Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. ⁶	Feingold-Zadok M...Reish O	27933661	2017
25	Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. ⁶	Kitamura Y...Saito K	27357428	2016
26	New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. ⁶	Piga D...Comi GP	27105866	2016
27	New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. ⁶	Oliveira J...Sousa M	26841830	2016
28	Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. ⁶	Punetha J...Hoffman EP	27854218	2016
29	A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. ⁶	Kiiski K...Pelin K	26197980	2016
30	One in seven colorectal cancer patients is under 50, US study shows. ⁶	Wise J	26809612	2016
31	Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. ⁶	Levesque S...Kishnani P	26809617	2016
32	Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy. ⁶	Malfatti E...Romero NB	26403434	2015
33	Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. ⁶	Rokach O...Treves S	26019235	2015
34	Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. ⁶	Farwell KD...Tang S	25356970	2015
35	Potential toxicity of pesticides in freshwater environments: passive sampling, exposure and impacts on biofilms: the PoToMAC project. ⁶	Margoum C...Mazzella N	25205148	2015
36	RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. ⁶	Xiong HY...Frey BJ	25525159	2015
37	Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. ⁶	Soden SE...Kingsmore SF	25473036	2014
38	Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. ⁶	Piteau SJ...MacKenzie JJ	25079567	2014
39	Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. ⁶	Malfatti E...Romero NB	24725366	2014
40	Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. ⁶	Marttila M...Pelin K	25110572	2014
41	Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. ⁶	de Winter JM...Granzier H	23572184	2013
42	Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. ⁶	Ottenheijm CA...Granzier H	23715096	2013
43	An integrated diagnosis strategy for congenital myopathies. ⁶	Bohm J...Laporte J	23826317	2013
44	Expression of multiple nebulin isoforms in human skeletal muscle and brain. ⁶	Laitila J...Pelin K	22941678	2012
45	Active human retrotransposons: variation and disease. ⁶	Hancks DC...Kazazian HH	22406018	2012
46	Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. ⁶	Lehtokari VL...Wallgren-Pettersson C	21724397	2011
47	LOVD v.2.0: the next generation in gene variant databases. ⁶	Fokkema IF...den Dunnen JT	21520333	2011
48	A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome. ⁶	Konkel MK...Batzer MA	20307669	2010
49	The impact of retrotransposons on human genome evolution. ⁶	Cordaux R...Batzer MA	19763152	2009
50	Nebulin mutations in autosomal recessive nemaline myopathy: an update. ⁶	Pelin K...Wallgren-Pettersson C	12207938	2002

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Genes for Nemaline Myopathy 2

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

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NEB	Nebulin	Protein Coding	1065.45	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	10051637 25356970
2	RIF1	Replication Timing Regulatory Factor 1	Protein Coding	435.26	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	10051637 25356970
3	KBTBD13	Kelch Repeat And BTB Domain Containing 13	Protein Coding	6.57	DISEASES inferred ¹⁵
4	CMPK1	Cytidine/Uridine Monophosphate Kinase 1	Protein Coding	6.33	DISEASES inferred ¹⁵
5	NME2	NME/NM23 Nucleoside Diphosphate Kinase 2	Protein Coding	6.28	DISEASES inferred ¹⁵
6	NME1-NME2	NME1-NME2 Readthrough	Protein Coding	5.86	DISEASES inferred ¹⁵
7	MMEL1	Membrane Metalloendopeptidase Like 1	Protein Coding	5.54	DISEASES inferred ¹⁵
8	NME1	NME/NM23 Nucleoside Diphosphate Kinase 1	Protein Coding	5.54	DISEASES inferred ¹⁵
9	TMEM125	Transmembrane Protein 125	Protein Coding	5.5	DISEASES inferred ¹⁵
10	CFL2	Cofilin 2	Protein Coding	5.5	DISEASES inferred ¹⁵
11	MYPN	Myopalladin	Protein Coding	5.48	DISEASES inferred ¹⁵
12	LMOD3	Leiomodin 3	Protein Coding	5.48	DISEASES inferred ¹⁵
13	KLHL41	Kelch Like Family Member 41	Protein Coding	5.32	DISEASES inferred ¹⁵
14	CTPS1	CTP Synthase 1	Protein Coding	5.32	DISEASES inferred ¹⁵
15	LRRC36	Leucine Rich Repeat Containing 36	Protein Coding	5.32	DISEASES inferred ¹⁵
16	KLHL40	Kelch Like Family Member 40	Protein Coding	5.32	DISEASES inferred ¹⁵
17	NXPH2	Neurexophilin 2	Protein Coding	5.17	DISEASES inferred ¹⁵
18	GTDC1	Glycosyltransferase Like Domain Containing 1	Protein Coding	5.13	DISEASES inferred ¹⁵
19	PROKR2	Prokineticin Receptor 2	Protein Coding	5.11	DISEASES inferred ¹⁵

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Variations for Nemaline Myopathy 2

ClinVar genetic disease variations for Nemaline Myopathy 2:

⁶ (show top 50) (show all 2676)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NEB , RIF1	NM_001271208.2(NEB):c.22746del (p.Met7582fs)	Deletion	Pathogenic	14046	rs1057515573	GRCh37: 2:152375533-152375533 GRCh38: 2:151519019-151519019
2	NEB , RIF1	NM_001271208.2(NEB):c.23500_23503dup (p.Leu7835fs)	Duplication	Pathogenic	14047	rs1057515574	GRCh37: 2:152364571-152364572 GRCh38: 2:151508057-151508058
3	NEB	NEB, 2-BP DEL, AG, EX172	Deletion	Pathogenic	14048		GRCh37: GRCh38:
4	NEB	NEB, 2-BP DEL, GA, EX181	Deletion	Pathogenic	14049	rs1559154278	GRCh37: GRCh38:
5	NEB , RIF1	NM_001271208.2(NEB):c.25279G>T (p.Glu8427Ter)	SNV	Pathogenic	14050	rs121913662	GRCh37: 2:152347009-152347009 GRCh38: 2:151490495-151490495
6	NEB , RIF1	NM_001271208.2(NEB):c.22584+1G>C	SNV	Pathogenic	14051	rs1057515575	GRCh37: 2:152380824-152380824 GRCh38: 2:151524310-151524310
7	NEB	NM_001271208.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs)	Indel	Pathogenic	129704	rs587780397	GRCh37: 2:152409927-152409931 GRCh38: 2:151553413-151553417
8	NEB	NM_001271208.2(NEB):c.3774+1G>A	SNV	Pathogenic	211588	rs111293259	GRCh37: 2:152534078-152534078 GRCh38: 2:151677564-151677564
9	NEB	NM_001271208.2(NEB):c.18597del (p.Tyr6200fs)	Deletion	Pathogenic	211583	rs797045735	GRCh37: 2:152420216-152420216 GRCh38: 2:151563702-151563702
10	NEB	NM_001271208.2(NEB):c.294+2T>C	SNV	Pathogenic	287422	rs773952935	GRCh37: 2:152584203-152584203 GRCh38: 2:151727689-151727689
11	NEB	NM_001271208.2(NEB):c.3987+1G>A	SNV	Pathogenic	371210	rs780022652	GRCh37: 2:152530990-152530990 GRCh38: 2:151674476-151674476
12	NEB , RIF1	NM_001271208.2(NEB):c.25101del (p.Gln8368fs)	Deletion	Pathogenic	435969	rs1553526884	GRCh37: 2:152348673-152348673 GRCh38: 2:151492159-151492159
13	NEB	NM_001271208.2(NEB):c.1471-1G>A	SNV	Pathogenic	435970	rs1553605995	GRCh37: 2:152553250-152553250 GRCh38: 2:151696736-151696736
14	NEB	NM_001271208.2(NEB):c.5722del (p.Ser1908fs)	Deletion	Pathogenic	465618	rs1553484601	GRCh37: 2:152520103-152520103 GRCh38: 2:151663589-151663589
15	NEB	NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter)	SNV	Pathogenic	465594	rs1553548666	GRCh37: 2:152539199-152539199 GRCh38: 2:151682685-151682685
16	NEB	NM_001271208.2(NEB):c.12684T>G (p.Tyr4228Ter)	SNV	Pathogenic	465462	rs1553875421	GRCh37: 2:152463183-152463183 GRCh38: 2:151606669-151606669
17	NEB	NM_001271208.2(NEB):c.3255+1G>A	SNV	Pathogenic	449502	rs375628303	GRCh37: 2:152536234-152536234 GRCh38: 2:151679720-151679720
18	NEB	NM_001271208.2(NEB):c.9726_9727insAT (p.Leu3243fs)	Insertion	Pathogenic	465655	rs1553934562	GRCh37: 2:152486157-152486158 GRCh38: 2:151629643-151629644
19	NEB	NM_001271208.2(NEB):c.19944G>A (p.Ser6648=)	SNV	Pathogenic	235402	rs201553266	GRCh37: 2:152408252-152408252 GRCh38: 2:151551738-151551738
20	NEB , RIF1	NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs)	Duplication	Pathogenic	465579	rs781667543	GRCh37: 2:152354227-152354228 GRCh38: 2:151497713-151497714
21	NEB	NM_001271208.2(NEB):c.13788+1G>A	SNV	Pathogenic	465492	rs1553862061	GRCh37: 2:152456955-152456955 GRCh38: 2:151600441-151600441
22	NEB , RIF1	NM_001271208.2(NEB):c.24248del (p.Gly8083fs)	Deletion	Pathogenic	465578	rs1553556154	GRCh37: 2:152354838-152354838 GRCh38: 2:151498324-151498324
23	NEB	NM_001271208.2(NEB):c.11585_11586delinsC (p.Tyr3862fs)	Indel	Pathogenic	465439	rs1553896522	GRCh37: 2:152470805-152470806 GRCh38: 2:151614291-151614292
24	NEB	NM_001271208.2(NEB):c.19097G>T (p.Ser6366Ile)	SNV	Pathogenic	496132	rs191579691	GRCh37: 2:152417726-152417726 GRCh38: 2:151561212-151561212
25	NEB	NM_001271208.2(NEB):c.10872+1G>T	SNV	Pathogenic	506287	rs1336053002	GRCh37: 2:152475964-152475964 GRCh38: 2:151619450-151619450
26	NEB , RIF1	NM_001271208.2(NEB):c.22249A>C (p.Thr7417Pro)	SNV	Pathogenic	506284	rs761232641	GRCh37: 2:152382489-152382489 GRCh38: 2:151525975-151525975
27	NEB , RIF1	NM_001271208.2(NEB):c.21609del (p.Asn7204fs)	Deletion	Pathogenic	533964	rs934955715	GRCh37: 2:152388324-152388324 GRCh38: 2:151531810-151531810
28	NEB	NM_001271208.2(NEB):c.3858C>A (p.Cys1286Ter)	SNV	Pathogenic	444521	rs1386238241	GRCh37: 2:152531822-152531822 GRCh38: 2:151675308-151675308
29	NEB , RIF1	NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs)	Deletion	Pathogenic	533968	rs934111355	GRCh37: 2:152353506-152353509 GRCh38: 2:151496992-151496995
30	NEB	NM_001271208.2(NEB):c.4652del (p.Gly1551fs)	Deletion	Pathogenic	533982	rs1553502168	GRCh37: 2:152524385-152524385 GRCh38: 2:151667871-151667871
31	NEB , RIF1	NM_001271208.2(NEB):c.24294_24297dup (p.Glu8100fs)	Duplication	Pathogenic	533994	rs1553555882	GRCh37: 2:152354788-152354789 GRCh38: 2:151498274-151498275
32	NEB , RIF1	NM_001271208.2(NEB):c.25101_25104delinsATTCAA (p.Gln8368fs)	Indel	Pathogenic	533995	rs1553526832	GRCh37: 2:152348670-152348673 GRCh38: 2:151492156-151492159
33	NEB	NM_001271208.2(NEB):c.13704T>A (p.Tyr4568Ter)	SNV	Pathogenic	534017	rs1553862274	GRCh37: 2:152457040-152457040 GRCh38: 2:151600526-151600526
34	NEB	NM_001271208.2(NEB):c.17845-1G>A	SNV	Pathogenic	534004	rs1371849916	GRCh37: 2:152423994-152423994 GRCh38: 2:151567480-151567480
35	NEB , RIF1	NM_001271208.2(NEB):c.24218C>A (p.Ser8073Ter)	SNV	Pathogenic	496134	rs1458048713	GRCh37: 2:152355813-152355813 GRCh38: 2:151499299-151499299
36	NEB	NM_001271208.2(NEB):c.20845dup (p.Thr6949fs)	Duplication	Pathogenic	551753	rs1553695209	GRCh37: 2:152396904-152396905 GRCh38: 2:151540390-151540391
37	NEB , RIF1	NM_001271208.2(NEB):c.24632_24633del (p.Pro8211fs)	Deletion	Pathogenic	265493	rs555445835	GRCh37: 2:152350726-152350727 GRCh38: 2:151494212-151494213
38	NEB	NM_001271208.2(NEB):c.2943+1G>A	SNV	Pathogenic	551899	rs113091511	GRCh37: 2:152539175-152539175 GRCh38: 2:151682661-151682661
39	NEB	NM_001271208.2(NEB):c.78+1G>A	SNV	Pathogenic	552018	rs778593702	GRCh37: 2:152586128-152586128 GRCh38: 2:151729614-151729614
40	NEB , RIF1	NM_001271208.2(NEB):c.24372_24375del (p.Arg8125fs)	Deletion	Pathogenic	552268	rs747564597	GRCh37: 2:152354170-152354173 GRCh38: 2:151497656-151497659
41	NEB	NM_001271208.2(NEB):c.18808C>T (p.Arg6270Ter)	SNV	Pathogenic	553116	rs754369875	GRCh37: 2:152419208-152419208 GRCh38: 2:151562694-151562694
42	NEB , RIF1	NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter)	SNV	Pathogenic	432817	rs754272530	GRCh37: 2:152350373-152350373 GRCh38: 2:151493859-151493859
43	NEB	NM_001271208.2(NEB):c.18676C>T (p.Gln6226Ter)	SNV	Pathogenic	557505	rs1475648900	GRCh37: 2:152420137-152420137 GRCh38: 2:151563623-151563623
44	NEB , RIF1	NM_001271208.2(NEB):c.24372_24375dup (p.Val8126fs)	Duplication	Pathogenic	558069	rs747564597	GRCh37: 2:152354169-152354170 GRCh38: 2:151497655-151497656
45	NEB	NM_001271208.2(NEB):c.11164C>T (p.Arg3722Ter)	SNV	Pathogenic	496131	rs928945364	GRCh37: 2:152473895-152473895 GRCh38: 2:151617381-151617381
46	NEB	NM_001271208.2(NEB):c.7523_7526del (p.Ile2508fs)	Deletion	Pathogenic	242434	rs878854368	GRCh37: 2:152502654-152502657 GRCh38: 2:151646140-151646143
47	NEB , RIF1	NM_001271208.2(NEB):c.22361_22362delinsG (p.Ala7454fs)	Indel	Pathogenic	567422	rs1559534672	GRCh37: 2:152381692-152381693 GRCh38: 2:151525178-151525179
48	NEB	NM_001271208.2(NEB):c.5574C>G (p.Tyr1858Ter)	SNV	Pathogenic	449501	rs781185019	GRCh37: 2:152520251-152520251 GRCh38: 2:151663737-151663737
49	NEB , RIF1	NM_001271208.2(NEB):c.21816_21817dup (p.Asp7273fs)	Duplication	Pathogenic	568050	rs1559580467	GRCh37: 2:152385746-152385747 GRCh38: 2:151529232-151529233
50	NEB , RIF1	NM_001271208.2(NEB):c.23953_23956dup (p.Asn7986fs)	Duplication	Pathogenic	574224	rs1559296376	GRCh37: 2:152359383-152359384 GRCh38: 2:151502869-151502870

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 12)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of nucleotides ⁶⁵ Show member pathways 5-aminoimidazole ribonucleotide biosynthesis ¹ adenine and adenosine salvage I ¹ adenine and adenosine salvage III ¹ adenosine nucleotides degradation ¹ guanine and guanosine salvage ¹ guanosine nucleotides degradation ¹ inosine-5-phosphate biosynthesis ¹ oxidized GTP and dGTP detoxification ¹ Phosphate bond hydrolysis by NTPDase proteins ⁶⁵ Phosphate bond hydrolysis by NUDT proteins ⁶⁵ Purine catabolism ⁶⁵ purine deoxyribonucleosides degradation ¹ Purine metabolism ³⁶ Purine metabolism ⁶⁵ purine nucleotides degradation ¹ Purine ribonucleoside monophosphate biosynthesis ⁶⁵ purine ribonucleosides degradation to ribose-1-phosphate ¹ Purine salvage ⁶⁵ Pyrimidine biosynthesis ⁶⁵ Pyrimidine catabolism ⁶⁵ Pyrimidine metabolism ³⁶ Pyrimidine metabolism ⁶⁵ pyrimidine ribonucleosides salvage I ¹ Pyrimidine salvage reactions ⁶⁵ UMP biosynthesis ¹ urate biosynthesis/inosine 5-phosphate degradation ¹ UTP and CTP dephosphorylation II ¹	12.44	NME2 NME1-NME2 NME1 CTPS1 CMPK1
2	purine nucleotides de novo biosynthesis ¹ Show member pathways adenosine ribonucleotides de novo biosynthesis ¹ guanosine nucleotides de novo biosynthesis ¹ guanosine ribonucleotides de novo biosynthesis ¹ superpathway of purine nucleotide salvage ¹	11.78	NME2 NME1-NME2 NME1
3	Biosynthesis of cofactors ³⁶ Show member pathways Ubiquinone and other terpenoid-quinone biosynthesis ³⁶	11.78	NME2 NME1-NME2 NME1 CTPS1 CMPK1
4	superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis ¹ Show member pathways adenosine deoxyribonucleotides de novo biosynthesis ¹ CMP phosphorylation ¹ guanosine deoxyribonucleotides de novo biosynthesis ¹ purine deoxyribonucleosides salvage ¹ pyrimidine deoxyribonucleosides salvage ¹ pyrimidine deoxyribonucleotide phosphorylation ¹ pyrimidine deoxyribonucleotides biosynthesis from CTP ¹ pyrimidine deoxyribonucleotides de novo biosynthesis ¹ superpathway of pyrimidine deoxyribonucleoside salvage ¹ superpathway of pyrimidine ribonucleotides de novo biosynthesis ¹ UTP and CTP de novo biosynthesis ¹ UTP and CTP dephosphorylation I ¹	11.55	NME2 NME1-NME2 NME1 CTPS1 CMPK1
5	ATP/ITP metabolism ²³	11.54	NME2 NME1-NME2 NME1
6	Validated targets of C-MYC transcriptional activation ¹	11.49	NME2 NME1-NME2 NME1
7	Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.94	NME2 NME1
8	Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.78	NME2 NME1
9	Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.69	NME2 NME1 CMPK1
10	Abacavir Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰ Show member pathways adenine and adenosine salvage II ¹	10.6	NME2 NME1
11	Synthesis and interconversion of nucleotide di- and triphosphates ⁶⁵	10.32	NME2 NME1 CTPS1 CMPK1
12	Tenofovir/Adefovir Pathway, Pharmacokinetics ⁶⁰	10.22	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	Z disc	GO:0030018	9.33	NEB MYPN CFL2
2	M band	GO:0031430	9.26	LMOD3 KLHL41
3	A band	GO:0031672	8.96	LMOD3 KLHL40
4	I band	GO:0031674	8.8	MYPN KLHL40 CFL2

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	actin filament organization	GO:0007015	9.7	LMOD3 KBTBD13 CFL2
2	sarcomere organization	GO:0045214	9.61	MYPN KLHL41 CFL2
3	nucleotide metabolic process	GO:0009117	9.55	NME2 NME1
4	cellular response to fatty acid	GO:0071398	9.54	NME2 NME1
5	skeletal muscle fiber development	GO:0048741	9.54	LMOD3 KLHL41 KLHL40
6	striated muscle contraction	GO:0006941	9.51	LMOD3 KLHL41
7	GTP biosynthetic process	GO:0006183	9.5	NME2 NME1-NME2 NME1
8	myofibril assembly	GO:0030239	9.49	LMOD3 KLHL41
9	nucleoside triphosphate biosynthetic process	GO:0009142	9.48	NME2 CMPK1
10	pyrimidine nucleotide biosynthetic process	GO:0006221	9.46	CTPS1 CMPK1
11	nucleobase-containing small molecule interconversion	GO:0015949	9.46	NME2 NME1 CTPS1 CMPK1
12	UTP biosynthetic process	GO:0006228	9.43	NME2 NME1-NME2 NME1
13	negative regulation of myeloid leukocyte differentiation	GO:0002762	9.4	NME2 NME1
14	nucleoside diphosphate phosphorylation	GO:0006165	9.26	NME2 NME1-NME2 NME1 CMPK1
15	CTP biosynthetic process	GO:0006241	8.92	NME2 NME1-NME2 NME1 CTPS1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	intermediate filament binding	GO:0019215	8.96	NME2 NME1
2	nucleoside diphosphate kinase activity	GO:0004550	8.92	NME2 NME1-NME2 NME1 CMPK1

Sources

Sources for Nemaline Myopathy 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

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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 20-May-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 Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Nemaline Myopathy 2 (NEM2)

Aliases & Classifications for Nemaline Myopathy 2

MalaCards integrated aliases for Nemaline Myopathy 2:

Characteristics:

OMIM®:

HPO:

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

Genetic Tests for Nemaline Myopathy 2

Genetic tests related to Nemaline Myopathy 2:

Anatomical Context for Nemaline Myopathy 2

MalaCards organs/tissues related to Nemaline Myopathy 2:

Publications for Nemaline Myopathy 2

Articles related to Nemaline Myopathy 2:

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