NM
MCID: NML001
MIFTS: 47

Nemaline Myopathy (NM)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Nemaline Myopathy

MalaCards integrated aliases for Nemaline Myopathy:

Name: Nemaline Myopathy 11 19 42 58 75 28 5 14 33
Rod Myopathy 11 19 42 75 33
Nemaline Body Disease 11 19 42 33
Nemaline Rod Myopathy 11 19 58
Myopathies, Nemaline 42 43 71
Nemaline Rod Disease 19 42
Myopathy, Nemaline 42 38
Rod-Body Myopathy 19 42
Rod Body Disease 19 42
Nm 19 58
Congenital Rod Disease 19
Myopathies Nemaline 53
Nemaline Bodies 28
Nem 58

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

1-9/100000 (Europe) 1-9/1000000 (United Kingdom) 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:3191
MeSH 43 D017696
SNOMED-CT 68 75072002
MESH via Orphanet 44 D017696
ICD10 via Orphanet 32 G71.2
UMLS via Orphanet 72 C0206157
Orphanet 58 ORPHA607
ICD11 33 1996502540
UMLS 71 C0206157

Summaries for Nemaline Myopathy

MedlinePlus Genetics: 42 Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur.Nemaline myopathy is divided into six types. In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. The types are distinguished by the age when symptoms first appear and the severity of symptoms; however, there is overlap among the various types. The severe congenital type is the most life-threatening. Most individuals with this type do not survive past early childhood due to respiratory failure. The Amish type solely affects the Old Order Amish population of Pennsylvania and is typically fatal in early childhood. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted. People with the childhood-onset type usually develop muscle weakness in adolescence. The adult-onset type is the mildest of all the various types. People with this type usually develop muscle weakness between ages 20 and 50.

MalaCards based summary: Nemaline Myopathy, also known as rod myopathy, is related to nemaline myopathy 5 and nemaline myopathy 2. An important gene associated with Nemaline Myopathy is NEB (Nebulin), and among its related pathways/superpathways are Cell differentiation - expanded index and Striated muscle contraction pathway. The drugs D-Tyrosine and Salbutamol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and brain.

GARD: 19 Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with Nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Genetic changes in at least six genes can cause Nemaline myopathy. Some individuals with Nemaline myopathy do not have an identified genetic change. The genetic cause of the disorder is unknown in these individuals. Nemaline myopathy is usually inherited in an autosomal recessive pattern. Less often, this condition is inherited in an autosomal dominant pattern. Nemaline myopathy is divided into six types. You can search for information about a particular type of Nemaline myopathy from the GARD Home page. Enter the name of the condition in the GARD search box and then select the type from the drop down menu.

Orphanet: 58 Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.

Disease Ontology: 11 A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies.

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

Related Diseases for Nemaline Myopathy

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 297)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 5 33.6 TPM2 TNNT1 NEB
2 nemaline myopathy 2 33.4 RIF1 NEB KLHL41 ACTA1
3 nemaline myopathy 8 33.3 NEB KLHL41
4 childhood-onset nemaline myopathy 33.2 TPM2 NEB KLHL41 ACTA1
5 intermediate congenital nemaline myopathy 33.1 NEB KLHL41 ACTA1
6 severe congenital nemaline myopathy 33.1 NEB KLHL41 ACTA1
7 typical congenital nemaline myopathy 33.1 TPM2 NEB KLHL41 ACTA1
8 batten-turner congenital myopathy 32.4 TPM2 TNNT1 NEB KLHL41 ACTA1
9 arthrogryposis multiplex congenita 6 31.2 RIF1 NEB
10 cardiomyopathy, familial hypertrophic, 1 31.2 TPM2 TNNT1 NEB ACTA1
11 distal arthrogryposis 31.1 TPM2 TNNT1 NEB KLHL41 ACTA1
12 congenital fiber-type disproportion 30.9 TPM2 TNNT1 NEB KLHL41 ACTA1
13 centronuclear myopathy 30.4 TPM2 NEB ACTA1
14 multiple pterygium syndrome, escobar variant 30.4 TPM2 NEB KLHL41
15 inclusion body myositis 30.3 MIR214 MIR155 MIR146B
16 multiminicore disease 30.3 TPM2 NEB ACTA1
17 non-alcoholic fatty liver disease 30.3 MIR29C MIR154 MIR132 MIR130A
18 pharynx cancer 30.1 MIR29C MIR155 MIR148A MIR132 MIR130A
19 polymyositis 30.0 MIR214 MIR155 MIR154 MIR146B MIR132 MIR130A
20 dermatomyositis 29.7 MIR369 MIR214 MIR155 MIR154 MIR148B MIR148A
21 muscular dystrophy, duchenne type 29.4 MIR369 MIR29C MIR214 MIR181D MIR155 MIR154
22 nemaline myopathy 3 11.9
23 nemaline myopathy 1 11.9
24 nemaline myopathy 7 11.9
25 nemaline myopathy 4 11.9
26 nemaline myopathy 6 11.8
27 nemaline myopathy 10 11.8
28 nemaline myopathy 9 11.8
29 nemaline myopathy 11, autosomal recessive 11.8
30 adult-onset nemaline myopathy 11.7
31 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 11.5
32 myopathy 11.3
33 congenital nemaline myopathy 11.3
34 intranuclear rod myopathy 11.2
35 respiratory failure 10.9
36 hypotonia 10.8
37 neuromuscular disease 10.7
38 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.7
39 monoclonal gammopathy of uncertain significance 10.5
40 hypertrophic cardiomyopathy 10.5
41 dilated cardiomyopathy 10.5
42 scoliosis 10.4
43 arthrogryposis, distal, type 1a 10.4
44 hyaline body myopathy 10.4 TPM2 NEB ACTA1
45 cardiomyopathy, dilated, 1ff 10.4 TNNT1 ACTA1
46 myopathy, distal, 1 10.4 TPM2 NEB ACTA1
47 cardiomyopathy, dilated, 2a 10.4 TNNT1 ACTA1
48 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.3 TPM2 TNNT1 NEB ACTA1
49 senile angioma 10.3 MIR181D MIR130A
50 maxillary sinus cancer 10.3 MIR369 MIR127

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



Diseases related to Nemaline Myopathy

Symptoms & Phenotypes for Nemaline Myopathy

Drugs & Therapeutics for Nemaline Myopathy

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 2 133585-56-5, 60-18-4, 556-02-5 1153 6057
2
Salbutamol Approved, Vet_approved 18559-94-9 2083
3 Bronchodilator Agents
4 Neurotransmitter Agents
5 Adrenergic beta-Agonists
6 Adrenergic Agonists
7 Adrenergic Agents
8 Anti-Asthmatic Agents
9 Respiratory System Agents
10 Tocolytic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of TNNT1-Myopathy With L-Tyrosine. A Double-blind, Placebo-controlled Crossover Trial. Unknown status NCT02035501 Phase 2 L-Tyrosine;Placebo
2 Muscle Relaxation Properties in Myopathies With Positive Muscle Phenomena: a Study Using Transcranial Magnetic Stimulation Unknown status NCT03211923
3 Inspiratory Muscle Training in Patients With Nemaline Myopathy Completed NCT03728803
4 Molecular Analysis of Neuromuscular Disease Recruiting NCT00272883
5 COMPIS- Congenital Myopathy Intervention Study. An Open-label, Cross Over, Randomised, Controlled Study Using Oral Salbutamol Enrolling by invitation NCT05099107 Salbutamol (as Salbutamol Sulfate) 2 Mg Oral Tablet;Salbutamol Only Product in Oral Dose Form

Search NIH Clinical Center for Nemaline Myopathy

Cochrane evidence based reviews: myopathies, nemaline

Genetic Tests for Nemaline Myopathy

Genetic tests related to Nemaline Myopathy:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 28
2 Nemaline Bodies 28

Anatomical Context for Nemaline Myopathy

Organs/tissues related to Nemaline Myopathy:

MalaCards : Skeletal Muscle, Heart, Brain, Eye, Breast

Publications for Nemaline Myopathy

Articles related to Nemaline Myopathy:

(show top 50) (show all 909)
# Title Authors PMID Year
1
Distal myopathy caused by homozygous missense mutations in the nebulin gene. 53 62 5
17525139 2007
2
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 53 62 5
15336686 2004
3
Nebulin mutations in autosomal recessive nemaline myopathy: an update. 53 62 5
12207938 2002
4
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. 62 5
32222963 2020
5
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. 62 5
30467404 2019
6
Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene. 62 5
30057997 2018
7
Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea. 62 5
29246625 2017
8
Co-presentation of adult-onset systemic lupus erythematosus and nemaline myopathy. 62 5
28977494 2017
9
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 62 5
27933661 2017
10
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. 62 5
27105866 2016
11
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. 62 5
26197980 2016
12
First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects. 62 5
27168972 2016
13
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy. 62 5
26403434 2015
14
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. 62 5
26019235 2015
15
Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. 62 5
24056153 2015
16
Mutation update: the spectra of nebulin variants and associated myopathies. 62 5
25205138 2014
17
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. 62 5
25079567 2014
18
Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. 62 5
25110572 2014
19
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing. 62 5
23443021 2013
20
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. 62 5
23572184 2013
21
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. 62 5
23715096 2013
22
Targeted array comparative genomic hybridization--a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes. 62 5
23010307 2013
23
Development of TaqMan allelic discrimination based genotyping of large DNA deletions. 62 5
22281206 2012
24
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy. 62 5
22367672 2012
25
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy. 62 5
21798101 2011
26
Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). 62 5
19944167 2010
27
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. 62 5
19232495 2009
28
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 62 5
16917880 2006
29
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. 5
33060286 2021
30
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice. 5
33742171 2021
31
Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. 5
29382405 2018
32
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. 5
29644095 2018
33
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 5
28424332 2017
34
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. 5
28132693 2017
35
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. 5
26841830 2016
36
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. 5
26809617 2016
37
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 5
25356970 2015
38
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 5
25525159 2015
39
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 5
18330676 2008
40
Distinctive patterns of microRNA expression in primary muscular disorders. 62 46
17942673 2007
41
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. 53 62
19953533 2010
42
Nebulin alters cross-bridge cycling kinetics and increases thin filament activation: a novel mechanism for increasing tension and reducing tension cost. 53 62
19736309 2009
43
A TPM3 mutation causing cap myopathy. 53 62
19553118 2009
44
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 53 62
19562689 2009
45
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. 53 62
19346529 2009
46
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. 53 62
19553116 2009
47
alpha-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells. 53 62
19393268 2009
48
Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy. 53 62
19155175 2009
49
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. 53 62
18976909 2009
50
[Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected]. 53 62
19648653 2009

Variations for Nemaline Myopathy

ClinVar genetic disease variations for Nemaline Myopathy:

5 (show top 50) (show all 96)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEB, RIF1 NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) DEL Pathogenic
265493 rs555445835 GRCh37: 2:152350726-152350727
GRCh38: 2:151494212-151494213
2 NEB, RIF1 NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) DUP Pathogenic
465579 rs781667543 GRCh37: 2:152354227-152354228
GRCh38: 2:151497713-151497714
3 NEB NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile) SNV Pathogenic
496132 rs191579691 GRCh37: 2:152417726-152417726
GRCh38: 2:151561212-151561212
4 NEB NM_001164508.2(NEB):c.2784del (p.Asp929fs) DEL Pathogenic
188731 rs786204430 GRCh37: 2:152541343-152541343
GRCh38: 2:151684829-151684829
5 NEB, RIF1 NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) SNV Pathogenic
496135 rs763364977 GRCh37: 2:152352822-152352822
GRCh38: 2:151496308-151496308
6 NEB NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) SNV Pathogenic
235402 rs201553266 GRCh37: 2:152408252-152408252
GRCh38: 2:151551738-151551738
7 NEB, RIF1 NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) DUP Pathogenic
633333 rs1344099907 GRCh37: 2:152353542-152353543
GRCh38: 2:151497028-151497029
8 NEB, RIF1 NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter) SNV Pathogenic
633334 rs760200697 GRCh37: 2:152348211-152348211
GRCh38: 2:151491697-151491697
9 NEB NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) SNV Pathogenic
190457 rs769345284 GRCh37: 2:152394412-152394412
GRCh38: 2:151537898-151537898
10 NEB, RIF1 NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) SNV Pathogenic
918157 rs555582398 GRCh37: 2:152373047-152373047
GRCh38: 2:151516533-151516533
11 NEB NM_001164508.2(NEB):c.1623del (p.Asp542fs) DEL Pathogenic
575054 rs772366030 GRCh37: 2:152552143-152552143
GRCh38: 2:151695629-151695629
12 NEB, RIF1 NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) DUP Pathogenic
533994 rs1553555882 GRCh37: 2:152354788-152354789
GRCh38: 2:151498274-151498275
13 NEB, RIF1 NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs) DUP Pathogenic
558069 rs747564597 GRCh37: 2:152354169-152354170
GRCh38: 2:151497655-151497656
14 NEB, RIF1 NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) MICROSAT Pathogenic
552108 rs755863625 GRCh37: 2:152350704-152350705
GRCh38: 2:151494190-151494191
15 NEB NM_001164508.2(NEB):c.3255+1G>T SNV Pathogenic
552035 rs375628303 GRCh37: 2:152536234-152536234
GRCh38: 2:151679720-151679720
16 NEB NM_001164508.2(NEB):c.1152+1G>T SNV Pathogenic
974957 rs398124167 GRCh37: 2:152563394-152563394
GRCh38: 2:151706880-151706880
17 NEB NM_001164508.2(NEB):c.2943+1G>A SNV Pathogenic
551899 rs113091511 GRCh37: 2:152539175-152539175
GRCh38: 2:151682661-151682661
18 NEB NM_001164508.2(NEB):c.3987+1_3987+2delinsTG INDEL Pathogenic
188944 rs786204576 GRCh37: 2:152530989-152530990
GRCh38: 2:151674475-151674476
19 NEB NM_001164508.2(NEB):c.17118+1G>A SNV Pathogenic
841709 rs747946275 GRCh37: 2:152427010-152427010
GRCh38: 2:151570496-151570496
20 NEB NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) DEL Pathogenic
95138 rs398124172 GRCh37: 2:152499783-152499793
GRCh38: 2:151643269-151643279
21 NEB NM_001164508.2(NEB):c.2415+1G>A SNV Pathogenic
420125 rs1057524581 GRCh37: 2:152544805-152544805
GRCh38: 2:151688291-151688291
22 NEB NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs) DEL Pathogenic
942659 rs1463906422 GRCh37: 2:152534469-152534484
GRCh38: 2:151677955-151677970
23 NEB, RIF1 NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) SNV Pathogenic
449500 rs200731870 GRCh37: 2:152346553-152346553
GRCh38: 2:151490039-151490039
24 NEB NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) SNV Pathogenic
496131 rs928945364 GRCh37: 2:152473895-152473895
GRCh38: 2:151617381-151617381
25 NEB, RIF1 NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) MICROSAT Pathogenic
550775 rs1266535163 GRCh37: 2:152354803-152354804
GRCh38: 2:151498289-151498290
26 NEB NC_000002.11:g.(152501090_152502643)_(152502749_152506689)del DEL Pathogenic
1723442 GRCh37: 2:152501090-152506689
GRCh38:
27 NEB NM_001164508.2(NEB):c.78+1G>A SNV Pathogenic
552018 rs778593702 GRCh37: 2:152586128-152586128
GRCh38: 2:151729614-151729614
28 NEB NM_001164508.2(NEB):c.1152+1G>A SNV Pathogenic
95104 rs398124167 GRCh37: 2:152563394-152563394
GRCh38: 2:151706880-151706880
29 NEB NM_001164508.2(NEB):c.3255+1G>A SNV Pathogenic
449502 rs375628303 GRCh37: 2:152536234-152536234
GRCh38: 2:151679720-151679720
30 NEB, RIF1 NM_001164508.2(NEB):c.22590+2T>C SNV Likely Pathogenic
451052 rs200449517 GRCh37: 2:152376170-152376170
GRCh38: 2:151519656-151519656
31 NEB NM_001164508.2(NEB):c.18472-1G>C SNV Likely Pathogenic
1066715 GRCh37: 2:152420445-152420445
GRCh38: 2:151563931-151563931
32 NEB NM_001164508.2(NEB):c.7665del (p.Arg2556fs) DEL Likely Pathogenic
1723349 GRCh37: 2:152500623-152500623
GRCh38: 2:151644109-151644109
33 NEB NC_000002.11:g.(152465191_152466322)_(152563512_152566169)del DEL Likely Pathogenic
1723435 GRCh37: 2:152465191-152566169
GRCh38:
34 NEB NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs) DEL Likely Pathogenic
917562 rs748358450 GRCh37: 2:152423811-152423814
GRCh38: 2:151567297-151567300
35 NEB NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter) SNV Likely Pathogenic
1071068 GRCh37: 2:152417568-152417568
GRCh38: 2:151561054-151561054
36 NEB NM_001164508.2(NEB):c.9465del (p.Ile3156fs) DEL Likely Pathogenic
550322 rs1553939600 GRCh37: 2:152487810-152487810
GRCh38: 2:151631296-151631296
37 NEB NM_001164508.2(NEB):c.3879+1G>A SNV Likely Pathogenic
554705 rs746999970 GRCh37: 2:152531800-152531800
GRCh38: 2:151675286-151675286
38 NEB, RIF1 NM_001164508.2(NEB):c.24911_24914dup (p.Phe8305fs) DUP Likely Pathogenic
1696187 GRCh37: 2:152348754-152348755
GRCh38: 2:151492240-151492241
39 NEB NM_001164508.2(NEB):c.20787+2T>C SNV Likely Pathogenic
557313 rs1337287633 GRCh37: 2:152397209-152397209
GRCh38: 2:151540695-151540695
40 NEB NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs) DEL Likely Pathogenic
1339664 GRCh37: 2:152394675-152394676
GRCh38: 2:151538161-151538162
41 NEB, RIF1 NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs) MICROSAT Likely Pathogenic
1339685 GRCh37: 2:152362698-152362701
GRCh38: 2:151506184-151506187
42 NEB NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr) SNV Likely Pathogenic
435964 rs200270156 GRCh37: 2:152471058-152471058
GRCh38: 2:151614544-151614544
43 NEB NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val) SNV Likely Pathogenic
551527 rs541803470 GRCh37: 2:152527706-152527706
GRCh38: 2:151671192-151671192
44 NEB NM_001164508.2(NEB):c.5722del (p.Ser1908fs) DEL Likely Pathogenic
465618 rs1553484601 GRCh37: 2:152520103-152520103
GRCh38: 2:151663589-151663589
45 NEB, RIF1 NM_001164508.2(NEB):c.25297+1G>A SNV Likely Pathogenic
552340 rs113525641 GRCh37: 2:152346885-152346885
GRCh38: 2:151490371-151490371
46 NEB NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter) SNV Likely Pathogenic
552042 rs756363951 GRCh37: 2:152507378-152507378
GRCh38: 2:151650864-151650864
47 NEB NM_001164508.2(NEB):c.19626+1G>A SNV Likely Pathogenic
691986 rs756352186 GRCh37: 2:152410341-152410341
GRCh38: 2:151553827-151553827
48 NEB NM_001164508.2(NEB):c.7228-1G>A SNV Likely Pathogenic
371087 rs1057516996 GRCh37: 2:152506894-152506894
GRCh38: 2:151650380-151650380
49 NEB, RIF1 NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter) SNV Likely Pathogenic
801764 rs1575714905 GRCh37: 2:152370195-152370195
GRCh38: 2:151513681-151513681
50 NEB NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter) SNV Likely Pathogenic
557888 rs749452641 GRCh37: 2:152397984-152397984
GRCh38: 2:151541470-151541470

Expression for Nemaline Myopathy

Search GEO for disease gene expression data for Nemaline Myopathy.

Pathways for Nemaline Myopathy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.15 MIR214 MIR181D MIR155 MIR146B
2
Show member pathways
10.79 TPM2 TNNT1 NEB ACTA1

GO Terms for Nemaline Myopathy

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

# Name GO ID Score Top Affiliating Genes
1 RISC complex GO:0016442 9.72 MIR369 MIR29C MIR214 MIR155 MIR154 MIR148B
2 extracellular vesicle GO:1903561 9.26 MIR29C MIR214 MIR148A MIR130A

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

# Name GO ID Score Top Affiliating Genes
1 miRNA-mediated gene silencing GO:0035195 9.74 MIR369 MIR29C MIR214 MIR181D MIR155 MIR154
2 miRNA-mediated gene silencing by inhibition of translation GO:0035278 9.43 MIR29C MIR181D MIR148B MIR148A MIR134 MIR132

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

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR binding GO:0003730 9.5 MIR29C MIR214 MIR155 MIR148B MIR134 MIR130A
2 mRNA base-pairing translational repressor activity GO:1903231 9.4 MIR29C MIR214 MIR181D MIR155 MIR154 MIR148B

Sources for Nemaline Myopathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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