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NM
MCID: NML001
MIFTS: 48

Nemaline Myopathy (NM)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Nemaline Myopathy

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MalaCards integrated aliases for Nemaline Myopathy:

Name: Nemaline Myopathy 12 76 24 53 25 37 29 13 6 15
Rod Myopathy 12 76 53 25
Nemaline Body Disease 12 53 25
Nemaline Rod Myopathy 12 24 53
Myopathies, Nemaline 25 44 73
Nemaline Rod Disease 53 25
Myopathy, Nemaline 25 40
Rod-Body Myopathy 53 25
Rod Body Disease 53 25
Congenital Rod Disease 53
Myopathies Nemaline 55
Nemaline Bodies 29
Nm 53

Characteristics:

GeneReviews:

24
Penetrance Data are insufficient to draw conclusions about penetrance in dominant (acta1-, tpm3-, tpm2-, and kbtbd13-related) forms of nm...

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Muscle diseases Neuronal diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:3191
ICD10 33 G71.2
MeSH 44 D017696
SNOMED-CT 68 75072002
KEGG 37 H00698
UMLS 73 C0206157
Sources

Summaries for Nemaline Myopathy

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NIH Rare Diseases : 53 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. 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). Mutations in at least six genes can cause nemaline myopathy. Some individuals with nemaline myopathy do not have an identified mutation. 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.

MalaCards based summary : Nemaline Myopathy, also known as rod myopathy, is related to nemaline myopathy 2 and childhood-onset nemaline myopathy. An important gene associated with Nemaline Myopathy is NEB (Nebulin), and among its related pathways/superpathways are Cardiac muscle contraction and Axon guidance. The drug tyrosine has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and heart, and related phenotype is muscle.

Disease Ontology : 12 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.

Genetics Home Reference : 25 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.

Wikipedia : 76 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

GeneReviews: NBK1288
Sources

Related Diseases for Nemaline Myopathy

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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

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

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 2 34.4 NEB TPM3
2 childhood-onset nemaline myopathy 33.8 ACTA1 KBTBD13 KLHL41 NEB TPM2 TPM3
3 intermediate congenital nemaline myopathy 33.8 ACTA1 KLHL41 NEB TPM3
4 severe congenital nemaline myopathy 33.8 ACTA1 KLHL40 KLHL41 LMOD3 NEB
5 typical congenital nemaline myopathy 33.5 ACTA1 CFL2 KLHL41 LMOD3 NEB TPM2
6 myopathy, congenital 32.4 ACTA1 NEB TNNT1 TPM3
7 myopathy 31.4 ACTA1 CFL2 KBTBD13 KLHL40 LMOD3 NEB
8 congenital fiber-type disproportion 30.0 ACTA1 CFL2 TPM2 TPM3
9 polymyositis 29.4 MIR210 MIR214 MIR382 MIR99B
10 dermatomyositis 28.7 MIR210 MIR214 MIR382 MIR452 MIR487B MIR99B
11 nemaline myopathy 5 12.9
12 nemaline myopathy 3 12.8
13 nemaline myopathy 11, autosomal recessive 12.7
14 nemaline myopathy 10 12.7
15 nemaline myopathy 1 12.7
16 nemaline myopathy 4 12.7
17 nemaline myopathy 7 12.7
18 nemaline myopathy 8 12.6
19 adult-onset nemaline myopathy 12.6
20 nemaline myopathy 6 12.6
21 nemaline myopathy 9 12.6
22 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 12.5
23 actin-accumulation myopathy 11.6
24 intranuclear rod myopathy 11.5
25 polyglucosan body myopathy 1 with or without immunodeficiency 10.5
26 muscle disorders 10.5
27 respiratory failure 10.4
28 hypertrophic cardiomyopathy 10.4
29 dilated cardiomyopathy 10.3
30 hypothyroidism 10.2
31 hypotonia 10.2
32 foot drop 10.2 ACTA1 NEB
33 charcot-marie-tooth disease 10.2
34 tooth disease 10.2
35 human immunodeficiency virus infectious disease 10.2
36 viral infectious disease 10.2
37 systemic lupus erythematosus 10.2
38 monoclonal gammopathy of uncertain significance 10.2
39 lupus erythematosus 10.2
40 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.1 TPM2 TPM3
41 cap myopathy 10.1 ACTA1 TPM2 TPM3
42 myopathy, congenital, with fiber-type disproportion 10.1 ACTA1 TPM3
43 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1 MIR134 MIR382
44 amyotrophic lateral sclerosis 1 10.0
45 gastroesophageal reflux 10.0
46 cardiac conduction defect 10.0
47 central core disease of muscle 10.0
48 diaphragmatic hernia, congenital 10.0
49 neuropathy, hereditary sensory and autonomic, type iii 10.0
50 spinal muscular atrophy, type i 10.0

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



Diseases related to Nemaline Myopathy
Sources

Symptoms & Phenotypes for Nemaline Myopathy

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MGI Mouse Phenotypes related to Nemaline Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 ACTA1 CFL2 KLHL40 KLHL41 LMOD3 NEB
Sources

Drugs & Therapeutics for Nemaline Myopathy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 tyrosine Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of TNNT1-Myopathy With L-Tyrosine. Unknown status NCT02035501 Phase 2 L-Tyrosine;Placebo
2 Inspiratory Muscle Training in Nemaline Myopathy Recruiting NCT03728803 Not Applicable
3 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
4 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
5 Muscle Relaxation in Myopathies With Positive Muscle Phenomena Enrolling by invitation NCT03211923

Search NIH Clinical Center for Nemaline Myopathy

Cochrane evidence based reviews: myopathies, nemaline

Sources

Genetic Tests for Nemaline Myopathy

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Genetic tests related to Nemaline Myopathy:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 29
2 Nemaline Bodies 29
Sources

Anatomical Context for Nemaline Myopathy

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MalaCards organs/tissues related to Nemaline Myopathy:

41
Skeletal Muscle, Bone, Heart, Testes, Brain, Eye
Sources

Publications for Nemaline Myopathy

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Articles related to Nemaline Myopathy:

(show top 50) (show all 369)
# Title Authors Year
1
Chemotherapy with stem cell transplantation is more effective than immunotherapy in sporadic late onset nemaline myopathy with monoclonal gammopathy. ( 29367711 )
2018
2
Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy. ( 29848386 )
2018
3
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessiveA TNNT3A splice variant. ( 29266598 )
2018
4
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice. ( 29293963 )
2018
5
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort. ( 29356967 )
2018
6
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen. ( 29910095 )
2018
7
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3). ( 29328520 )
2018
8
TNNT1 nemaline myopathy: Natural history and therapeutic frontier. ( 29931346 )
2018
9
LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings. ( 29331079 )
2018
10
Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child. ( 30395933 )
2018
11
Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene. ( 30057997 )
2018
12
L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy. ( 30065346 )
2018
13
Using sevoflurane in a pediatric patient with nemaline rod myopathy. ( 30144234 )
2018
14
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD. ( 30208948 )
2018
15
Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria. ( 30291184 )
2018
16
Sporadic late onset nemaline myopathy (SLONM) in an adult presenting with progressive muscle weakness. ( 30407167 )
2018
17
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. ( 30467404 )
2018
18
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy. ( 30517146 )
2018
19
Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea. ( 29246625 )
2017
20
Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy. ( 27890461 )
2017
21
Sarcomere Dysfunction in Nemaline Myopathy. ( 28436394 )
2017
22
A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions. ( 28516742 )
2017
23
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases. ( 28490364 )
2017
24
Monoclonal gammopathy with both nemaline myopathy and amyloid myopathy. ( 28606401 )
2017
25
Co-presentation of adult-onset systemic lupus erythematosus and nemaline myopathy. ( 28977494 )
2017
26
Craniofacial Manifestations in Severe Nemaline Myopathy. ( 28468212 )
2017
27
Clinical and HistologicA Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature. ( 28780987 )
2017
28
Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene. ( 29433794 )
2017
29
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance. ( 28678037 )
2017
30
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene. ( 28131200 )
2017
31
Craniofacial Manifestations in Severe Nemaline Myopathy. ( 28134641 )
2017
32
Clinical, histological and radiological responses to methylprednisolone in HIV-associated rod myopathy. ( 28606402 )
2017
33
Novel autosomal dominant TNNT1 mutation causing nemaline myopathy. ( 29178646 )
2017
34
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. ( 28017374 )
2017
35
Sagging Eye Syndrome or Nemaline Rod Myopathy? Divergence Insufficiency with Levator Dehiscence as an Overlapping Symptom between Two Diagnoses. ( 28182120 )
2017
36
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy. ( 27242277 )
2016
37
Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. ( 27215641 )
2016
38
Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report. ( 26825889 )
2016
39
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8). ( 27528495 )
2016
40
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. ( 27105866 )
2016
41
Modulating myosin restores muscle function in a mouse model of nemaline myopathy. ( 26891371 )
2016
42
A case of congenital myopathy (Nemaline myopathy). ( 27727847 )
2016
43
The de novo missense mutation N117S in skeletal muscle I+a89actinA 1 causes a mild form of congenital nemaline myopathy. ( 27357517 )
2016
44
Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. ( 27102768 )
2016
45
Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy. ( 27580764 )
2016
46
Autologous stem cell transplantation in a patient with sporadic late-onset nemaline myopathy and monoclonal gammopathy: First Moroccan experience. ( 27818064 )
2016
47
Biphasic cuirass ventilation for treatment of an air leak after pneumothorax in a patient with nemaline myopathy: a case report. ( 27644222 )
2016
48
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors. ( 26754003 )
2016
49
LMOD3: the "missing link" in nemaline myopathy? ( 26337340 )
2015
50
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. ( 26197980 )
2015
Sources

Variations for Nemaline Myopathy

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ClinVar genetic disease variations for Nemaline Myopathy:

6 (show top 50) (show all 204)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTA1 NM_001100.3(ACTA1): c.130-10G> C single nucleotide variant Benign/Likely benign rs41271481 GRCh37 Chromosome 1, 229568637: 229568637
2 ACTA1 NM_001100.3(ACTA1): c.130-10G> C single nucleotide variant Benign/Likely benign rs41271481 GRCh38 Chromosome 1, 229432890: 229432890
3 ACTA1 NM_001100.3(ACTA1): c.130-5T> C single nucleotide variant Benign/Likely benign rs11803533 GRCh37 Chromosome 1, 229568632: 229568632
4 ACTA1 NM_001100.3(ACTA1): c.130-5T> C single nucleotide variant Benign/Likely benign rs11803533 GRCh38 Chromosome 1, 229432885: 229432885
5 ACTA1 NM_001100.3(ACTA1): c.809-12dupC duplication Benign/Likely benign rs201427429 GRCh37 Chromosome 1, 229567661: 229567661
6 ACTA1 NM_001100.3(ACTA1): c.809-12dupC duplication Benign/Likely benign rs201427429 GRCh38 Chromosome 1, 229431914: 229431914
7 ACTA1 NM_001100.3(ACTA1): c.809-14G> C single nucleotide variant Benign/Likely benign rs6673359 GRCh37 Chromosome 1, 229567663: 229567663
8 ACTA1 NM_001100.3(ACTA1): c.809-14G> C single nucleotide variant Benign/Likely benign rs6673359 GRCh38 Chromosome 1, 229431916: 229431916
9 KLHL41 NM_006063.2(KLHL41): c.641delA (p.Asn214Thrfs) deletion Pathogenic/Likely pathogenic rs730882235 GRCh37 Chromosome 2, 170366929: 170366929
10 KLHL41 NM_006063.2(KLHL41): c.641delA (p.Asn214Thrfs) deletion Pathogenic/Likely pathogenic rs730882235 GRCh38 Chromosome 2, 169510419: 169510419
11 NEB NM_004543.4(NEB): c.2784delT (p.Asp929Ilefs) deletion Pathogenic/Likely pathogenic rs786204430 GRCh37 Chromosome 2, 152541343: 152541343
12 NEB NM_004543.4(NEB): c.2784delT (p.Asp929Ilefs) deletion Pathogenic/Likely pathogenic rs786204430 GRCh38 Chromosome 2, 151684829: 151684829
13 TPM3 NM_152263.3(TPM3): c.243+15_243+16delGA deletion Conflicting interpretations of pathogenicity rs146969764 GRCh38 Chromosome 1, 154191170: 154191171
14 TPM3 NM_152263.3(TPM3): c.243+15_243+16delGA deletion Conflicting interpretations of pathogenicity rs146969764 GRCh37 Chromosome 1, 154163646: 154163647
15 ACTA1 NM_001100.3(ACTA1): c.453C> A (p.Thr151=) single nucleotide variant Benign/Likely benign rs76030344 GRCh37 Chromosome 1, 229568304: 229568304
16 ACTA1 NM_001100.3(ACTA1): c.453C> A (p.Thr151=) single nucleotide variant Benign/Likely benign rs76030344 GRCh38 Chromosome 1, 229432557: 229432557
17 NEB NM_001271208.1(NEB): c.24632_24633delCT (p.Pro8211Argfs) deletion Pathogenic rs555445835 GRCh37 Chromosome 2, 152350726: 152350727
18 NEB NM_001271208.1(NEB): c.24632_24633delCT (p.Pro8211Argfs) deletion Pathogenic rs555445835 GRCh38 Chromosome 2, 151494212: 151494213
19 TPM3 NM_152263.3(TPM3): c.*5577C> T single nucleotide variant Uncertain significance rs886045287 GRCh37 Chromosome 1, 154134836: 154134836
20 TPM3 NM_152263.3(TPM3): c.*5577C> T single nucleotide variant Uncertain significance rs886045287 GRCh38 Chromosome 1, 154162360: 154162360
21 TPM3 NM_152263.3(TPM3): c.*4968A> G single nucleotide variant Benign rs4446955 GRCh37 Chromosome 1, 154135445: 154135445
22 TPM3 NM_152263.3(TPM3): c.*4968A> G single nucleotide variant Benign rs4446955 GRCh38 Chromosome 1, 154162969: 154162969
23 TPM3 NM_152263.3(TPM3): c.*4513G> A single nucleotide variant Uncertain significance rs886045296 GRCh37 Chromosome 1, 154135900: 154135900
24 TPM3 NM_152263.3(TPM3): c.*4513G> A single nucleotide variant Uncertain significance rs886045296 GRCh38 Chromosome 1, 154163424: 154163424
25 TPM3 NM_152263.3(TPM3): c.*4302A> G single nucleotide variant Uncertain significance rs886045298 GRCh38 Chromosome 1, 154163635: 154163635
26 TPM3 NM_152263.3(TPM3): c.*4302A> G single nucleotide variant Uncertain significance rs886045298 GRCh37 Chromosome 1, 154136111: 154136111
27 TPM3 NM_152263.3(TPM3): c.*3860C> T single nucleotide variant Uncertain significance rs763202740 GRCh38 Chromosome 1, 154164077: 154164077
28 TPM3 NM_152263.3(TPM3): c.*3860C> T single nucleotide variant Uncertain significance rs763202740 GRCh37 Chromosome 1, 154136553: 154136553
29 TPM3 NM_152263.3(TPM3): c.*3822G> T single nucleotide variant Benign rs12063890 GRCh38 Chromosome 1, 154164115: 154164115
30 TPM3 NM_152263.3(TPM3): c.*3822G> T single nucleotide variant Benign rs12063890 GRCh37 Chromosome 1, 154136591: 154136591
31 TPM3 NM_152263.3(TPM3): c.*2719G> A single nucleotide variant Benign rs11265201 GRCh38 Chromosome 1, 154165218: 154165218
32 TPM3 NM_152263.3(TPM3): c.*2719G> A single nucleotide variant Benign rs11265201 GRCh37 Chromosome 1, 154137694: 154137694
33 TPM3 NM_152263.3(TPM3): c.*2565G> A single nucleotide variant Benign rs6661996 GRCh38 Chromosome 1, 154165372: 154165372
34 TPM3 NM_152263.3(TPM3): c.*2565G> A single nucleotide variant Benign rs6661996 GRCh37 Chromosome 1, 154137848: 154137848
35 TPM3 NM_152263.3(TPM3): c.*2409G> C single nucleotide variant Likely benign rs142369480 GRCh38 Chromosome 1, 154165528: 154165528
36 TPM3 NM_152263.3(TPM3): c.*2409G> C single nucleotide variant Likely benign rs142369480 GRCh37 Chromosome 1, 154138004: 154138004
37 TPM3 NM_152263.3(TPM3): c.*2147delT deletion Likely benign rs68185418 GRCh37 Chromosome 1, 154138266: 154138266
38 TPM3 NM_152263.3(TPM3): c.*2147delT deletion Likely benign rs68185418 GRCh38 Chromosome 1, 154165790: 154165790
39 TPM3 NM_152263.3(TPM3): c.*2130delC deletion Uncertain significance rs370257288 GRCh37 Chromosome 1, 154138283: 154138283
40 TPM3 NM_152263.3(TPM3): c.*2130delC deletion Uncertain significance rs370257288 GRCh38 Chromosome 1, 154165807: 154165807
41 TPM3 NM_152263.3(TPM3): c.*1791G> A single nucleotide variant Likely benign rs114799756 GRCh37 Chromosome 1, 154138622: 154138622
42 TPM3 NM_152263.3(TPM3): c.*1791G> A single nucleotide variant Likely benign rs114799756 GRCh38 Chromosome 1, 154166146: 154166146
43 TPM3 NM_152263.3(TPM3): c.*1291A> G single nucleotide variant Uncertain significance rs375670563 GRCh37 Chromosome 1, 154139122: 154139122
44 TPM3 NM_152263.3(TPM3): c.*1291A> G single nucleotide variant Uncertain significance rs375670563 GRCh38 Chromosome 1, 154166646: 154166646
45 TPM3 NM_152263.3(TPM3): c.*1152C> T single nucleotide variant Uncertain significance rs535068015 GRCh37 Chromosome 1, 154139261: 154139261
46 TPM3 NM_152263.3(TPM3): c.*1152C> T single nucleotide variant Uncertain significance rs535068015 GRCh38 Chromosome 1, 154166785: 154166785
47 TPM3 NM_152263.3(TPM3): c.*1032T> G single nucleotide variant Benign rs6673171 GRCh37 Chromosome 1, 154139381: 154139381
48 TPM3 NM_152263.3(TPM3): c.*1032T> G single nucleotide variant Benign rs6673171 GRCh38 Chromosome 1, 154166905: 154166905
49 TPM3 NM_152263.3(TPM3): c.*903C> T single nucleotide variant Uncertain significance rs545353984 GRCh37 Chromosome 1, 154139510: 154139510
50 TPM3 NM_152263.3(TPM3): c.*903C> T single nucleotide variant Uncertain significance rs545353984 GRCh38 Chromosome 1, 154167034: 154167034
Sources

Expression for Nemaline Myopathy

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

Pathways for Nemaline Myopathy

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Pathways related to Nemaline Myopathy according to KEGG:

37
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260
2 Axon guidance hsa04360
3 Fc gamma R-mediated phagocytosis hsa04666
4 Regulation of actin cytoskeleton hsa04810

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

# Super pathways Score Top Affiliating Genes
1
Striated Muscle Contraction 1 66
10.88 ACTA1 NEB TNNT1 TPM2 TPM3
2
Smooth Muscle Contraction 66
10.51 TPM2 TPM3
Sources

GO Terms for Nemaline Myopathy

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.87 ACTA1 CFL2 KLHL41 LMOD3 NEB TPM2
2 extracellular space GO:0005615 9.86 ACTA1 CFL2 MIR134 MIR210 MIR423 MIR432
3 actin filament GO:0005884 9.54 ACTA1 TPM2 TPM3
4 Cul3-RING ubiquitin ligase complex GO:0031463 9.49 KLHL40 KLHL41
5 M band GO:0031430 9.48 KLHL41 LMOD3
6 I band GO:0031674 9.46 CFL2 KLHL40
7 striated muscle thin filament GO:0005865 9.43 ACTA1 LMOD3
8 A band GO:0031672 9.4 KLHL40 LMOD3
9 actin cytoskeleton GO:0015629 9.35 ACTA1 CFL2 NEB TPM2 TPM3
10 micro-ribonucleoprotein complex GO:0035068 9.28 MIR134 MIR210 MIR214 MIR382 MIR423 MIR432
11 muscle thin filament tropomyosin GO:0005862 9.16 TPM2 TPM3

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.65 ACTA1 LMOD3 TNNT1 TPM2 TPM3
2 actin filament organization GO:0007015 9.63 CFL2 TPM2 TPM3
3 gene silencing by miRNA GO:0035195 9.61 MIR134 MIR210 MIR214 MIR382 MIR423 MIR432
4 sarcomere organization GO:0045214 9.5 CFL2 KLHL41 TNNT1
5 skeletal muscle fiber development GO:0048741 9.46 ACTA1 KLHL40 KLHL41 LMOD3
6 striated muscle contraction GO:0006941 9.43 KLHL41 LMOD3
7 skeletal muscle thin filament assembly GO:0030240 9.4 ACTA1 LMOD3
8 myofibril assembly GO:0030239 9.37 KLHL41 LMOD3
9 muscle filament sliding GO:0030049 9.02 ACTA1 NEB TNNT1 TPM2 TPM3

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.26 CFL2 NEB TPM2 TPM3
2 tropomyosin binding GO:0005523 9.16 LMOD3 TNNT1
3 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.02 MIR134 MIR210 MIR214 MIR423 MIR487B
Sources

Sources for Nemaline Myopathy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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