MCID: NML001
MIFTS: 48

Nemaline Myopathy

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nemaline Myopathy

MalaCards integrated aliases for Nemaline Myopathy:

Name: Nemaline Myopathy 12 77 25 54 26 38 30 13 6 15
Rod Myopathy 12 77 54 26
Nemaline Body Disease 12 54 26
Nemaline Rod Myopathy 12 25 54
Myopathies, Nemaline 26 45 74
Nemaline Rod Disease 54 26
Myopathy, Nemaline 26 41
Rod-Body Myopathy 54 26
Rod Body Disease 54 26
Congenital Rod Disease 54
Myopathies Nemaline 56
Nemaline Bodies 30
Nm 54

Characteristics:

GeneReviews:

25
Penetrance Data are insufficient to draw conclusions about penetrance in dominant (acta1-, tpm3-, tpm2-, and kbtbd13-related) forms of nm...

Classifications:



External Ids:

Disease Ontology 12 DOID:3191
KEGG 38 H00698
MeSH 45 D017696
SNOMED-CT 69 75072002
ICD10 34 G71.2
UMLS 74 C0206157

Summaries for Nemaline Myopathy

NIH Rare Diseases : 54 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 intermediate congenital 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, testes and eye, 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 : 26 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 : 77 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

GeneReviews: NBK1288

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

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

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 2 34.5 NEB TPM3
2 intermediate congenital nemaline myopathy 33.9 ACTA1 KLHL41 NEB TPM3
3 childhood-onset nemaline myopathy 33.8 ACTA1 KBTBD13 KLHL41 NEB TPM2 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 32.5 ACTA1 NEB TNNT1 TPM3
7 myopathy 31.2 ACTA1 CFL2 KBTBD13 KLHL40 LMOD3 NEB
8 congenital fiber-type disproportion 30.5 ACTA1 CFL2 TPM2 TPM3
9 cap myopathy 30.3 ACTA1 TPM2 TPM3
10 polymyositis 29.4 MIR210 MIR214 MIR382 MIR99B
11 dermatomyositis 27.7 MIR210 MIR214 MIR382 MIR452 MIR487B MIR495
12 nemaline myopathy 5 12.9
13 nemaline myopathy 3 12.9
14 nemaline myopathy 1 12.8
15 nemaline myopathy 4 12.8
16 nemaline myopathy 7 12.8
17 nemaline myopathy 8 12.8
18 nemaline myopathy 11, autosomal recessive 12.8
19 nemaline myopathy 6 12.7
20 nemaline myopathy 10 12.7
21 nemaline myopathy 9 12.7
22 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 12.6
23 adult-onset nemaline myopathy 12.6
24 intranuclear rod myopathy 11.5
25 actin-accumulation myopathy 11.4
26 muscle disorders 11.1
27 polyglucosan body myopathy 1 with or without immunodeficiency 10.5
28 respiratory failure 10.4
29 hypertrophic cardiomyopathy 10.4
30 dilated cardiomyopathy 10.4
31 foot drop 10.3 ACTA1 NEB
32 hypothyroidism 10.3
33 hypotonia 10.3
34 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.2 TPM2 TPM3
35 systemic lupus erythematosus 10.2
36 monoclonal gammopathy of uncertain significance 10.2
37 lupus erythematosus 10.2
38 charcot-marie-tooth disease 10.2
39 tooth disease 10.2
40 human immunodeficiency virus infectious disease 10.2
41 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1 MIR134 MIR382
42 myopathy, congenital, with fiber-type disproportion 10.0 ACTA1 TPM3
43 amyotrophic lateral sclerosis 1 10.0
44 atrial standstill 1 10.0
45 gastroesophageal reflux 10.0
46 cardiac conduction defect 10.0
47 central core disease of muscle 10.0
48 van der woude syndrome 1 10.0
49 diaphragmatic hernia, congenital 10.0
50 neuropathy, hereditary sensory and autonomic, type iii 10.0

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



Diseases related to Nemaline Myopathy

Symptoms & Phenotypes for Nemaline Myopathy

MGI Mouse Phenotypes related to Nemaline Myopathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 ACTA1 CFL2 KLHL40 KLHL41 LMOD3 NEB

Drugs & Therapeutics for Nemaline Myopathy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057

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

Genetic Tests for Nemaline Myopathy

Genetic tests related to Nemaline Myopathy:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 30
2 Nemaline Bodies 30

Anatomical Context for Nemaline Myopathy

MalaCards organs/tissues related to Nemaline Myopathy:

42
Skeletal Muscle, Testes, Eye, Brain, Bone

Publications for Nemaline Myopathy

Articles related to Nemaline Myopathy:

(show top 50) (show all 399)
# Title Authors Year
1
Cullin-3 dependent deregulation of ACTN1 represents a new pathogenic mechanism in nemaline myopathy. ( 30990797 )
2019
2
Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in Nemaline Myopathy. ( 30986853 )
2019
3
Dropped Head in Sporadic Late-onset Nemaline Myopathy. ( 30799359 )
2019
4
Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy. ( 30689900 )
2019
5
Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations. ( 30642739 )
2019
6
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice. ( 29293963 )
2018
7
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. ( 29266598 )
2018
8
Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy. ( 29848386 )
2018
9
Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene. ( 29433794 )
2018
10
Chemotherapy with stem cell transplantation is more effective than immunotherapy in sporadic late onset nemaline myopathy with monoclonal gammopathy. ( 29367711 )
2018
11
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort. ( 29356967 )
2018
12
LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings. ( 29331079 )
2018
13
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3). ( 29328520 )
2018
14
Sporadic late onset nemaline myopathy (SLONM) in an adult presenting with progressive muscle weakness. ( 30407167 )
2018
15
Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria. ( 30291184 )
2018
16
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD. ( 30208948 )
2018
17
Using sevoflurane in a pediatric patient with nemaline rod myopathy. ( 30144234 )
2018
18
L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy. ( 30065346 )
2018
19
Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene. ( 30057997 )
2018
20
TNNT1 nemaline myopathy: natural history and therapeutic frontier. ( 29931346 )
2018
21
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen. ( 29910095 )
2018
22
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy. ( 30517146 )
2018
23
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. ( 30467404 )
2018
24
Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child. ( 30395933 )
2018
25
Autologous stem cell transplantation in a patient with sporadic late-onset nemaline myopathy and monoclonal gammopathy: First Moroccan experience. ( 27818064 )
2017
26
Monoclonal gammopathy with both nemaline myopathy and amyloid myopathy. ( 28606401 )
2017
27
A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions. ( 28516742 )
2017
28
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases. ( 28490364 )
2017
29
Craniofacial Manifestations in Severe Nemaline Myopathy. ( 28468212 )
2017
30
Sarcomere Dysfunction in Nemaline Myopathy. ( 28436394 )
2017
31
Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea. ( 29246625 )
2017
32
Novel autosomal dominant TNNT1 mutation causing nemaline myopathy. ( 29178646 )
2017
33
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. ( 28017374 )
2017
34
Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy. ( 27890461 )
2017
35
Clinical, histological and radiological responses to methylprednisolone in HIV-associated rod myopathy. ( 28606402 )
2017
36
Sagging Eye Syndrome or Nemaline Rod Myopathy? Divergence Insufficiency with Levator Dehiscence as an Overlapping Symptom between Two Diagnoses. ( 28182120 )
2017
37
Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature. ( 28780987 )
2017
38
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance. ( 28678037 )
2017
39
Co-presentation of adult-onset systemic lupus erythematosus and nemaline myopathy. ( 28977494 )
2017
40
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene. ( 28131200 )
2017
41
Biphasic cuirass ventilation for treatment of an air leak after pneumothorax in a patient with nemaline myopathy: a case report. ( 27644222 )
2016
42
Modulating myosin restores muscle function in a mouse model of nemaline myopathy. ( 26891371 )
2016
43
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8). ( 27528495 )
2016
44
Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy. ( 27580764 )
2016
45
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors. ( 26754003 )
2016
46
NEB-related core-rod myopathy with distinct clinical and pathological features. ( 26562614 )
2016
47
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. ( 26197980 )
2016
48
The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy. ( 27357517 )
2016
49
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy. ( 27242277 )
2016
50
Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. ( 27215641 )
2016

Variations for Nemaline Myopathy

ClinVar genetic disease variations for Nemaline Myopathy:

6 (show top 50) (show all 204)
# Gene Variation Type Significance SNP ID Assembly Location
1 NEB NM_001164507.1(NEB): c.19097G> T (p.Ser6366Ile) single nucleotide variant Pathogenic rs191579691 GRCh37 Chromosome 2, 152417726: 152417726
2 NEB NM_001164507.1(NEB): c.19097G> T (p.Ser6366Ile) single nucleotide variant Pathogenic rs191579691 GRCh38 Chromosome 2, 151561212: 151561212
3 NEB NM_001271208.1(NEB): c.24218C> A (p.Ser8073Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1458048713 GRCh37 Chromosome 2, 152355813: 152355813
4 NEB NM_001271208.1(NEB): c.24218C> A (p.Ser8073Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1458048713 GRCh38 Chromosome 2, 151499299: 151499299
5 NEB NM_001271208.1(NEB): c.24559C> T (p.Arg8187Ter) single nucleotide variant Pathogenic rs763364977 GRCh37 Chromosome 2, 152352822: 152352822
6 NEB NM_001271208.1(NEB): c.24559C> T (p.Arg8187Ter) single nucleotide variant Pathogenic rs763364977 GRCh38 Chromosome 2, 151496308: 151496308
7 NEB NM_001271208.1(NEB): c.11164C> T (p.Arg3722Ter) single nucleotide variant Pathogenic rs928945364 GRCh37 Chromosome 2, 152473895: 152473895
8 NEB NM_001271208.1(NEB): c.11164C> T (p.Arg3722Ter) single nucleotide variant Pathogenic rs928945364 GRCh38 Chromosome 2, 151617381: 151617381
9 NEB NM_001271208.1(NEB): c.22264G> C (p.Asp7422His) single nucleotide variant not provided rs770527289 GRCh37 Chromosome 2, 152382474: 152382474
10 NEB NM_001271208.1(NEB): c.22264G> C (p.Asp7422His) single nucleotide variant not provided rs770527289 GRCh38 Chromosome 2, 151525960: 151525960
11 ACTA1 NM_001100.3(ACTA1): c.-65T> C single nucleotide variant Likely benign rs605430 GRCh37 Chromosome 1, 229569803: 229569803
12 ACTA1 NM_001100.3(ACTA1): c.-65T> C single nucleotide variant Likely benign rs605430 GRCh38 Chromosome 1, 229434056: 229434056
13 ACTA1 NM_001100.3(ACTA1): c.129+14T> C single nucleotide variant Uncertain significance rs886046076 GRCh37 Chromosome 1, 229568720: 229568720
14 ACTA1 NM_001100.3(ACTA1): c.129+14T> C single nucleotide variant Uncertain significance rs886046076 GRCh38 Chromosome 1, 229432973: 229432973
15 ACTA1 NM_001100.3(ACTA1): c.809-14_809-13insA insertion Uncertain significance rs749384329 GRCh37 Chromosome 1, 229567662: 229567663
16 ACTA1 NM_001100.3(ACTA1): c.809-14_809-13insA insertion Uncertain significance rs749384329 GRCh38 Chromosome 1, 229431915: 229431916
17 ACTA1 NM_001100.3(ACTA1): c.966G> A (p.Leu322=) single nucleotide variant Uncertain significance rs765996798 GRCh37 Chromosome 1, 229567492: 229567492
18 ACTA1 NM_001100.3(ACTA1): c.966G> A (p.Leu322=) single nucleotide variant Uncertain significance rs765996798 GRCh38 Chromosome 1, 229431745: 229431745
19 ACTA1 NM_001100.3(ACTA1): c.-66_-65delCTinsTC indel Uncertain significance rs386640096 GRCh37 Chromosome 1, 229569803: 229569804
20 ACTA1 NM_001100.3(ACTA1): c.-66_-65delCTinsTC indel Uncertain significance rs386640096 GRCh38 Chromosome 1, 229434056: 229434057
21 ACTA1 NM_001100.3(ACTA1): c.454+3G> T single nucleotide variant Uncertain significance rs200976037 GRCh37 Chromosome 1, 229568300: 229568300
22 ACTA1 NM_001100.3(ACTA1): c.454+3G> T single nucleotide variant Uncertain significance rs200976037 GRCh38 Chromosome 1, 229432553: 229432553
23 ACTA1 NM_001100.3(ACTA1): c.809-13_809-12dupCC duplication Uncertain significance rs201427429 GRCh37 Chromosome 1, 229567661: 229567662
24 ACTA1 NM_001100.3(ACTA1): c.809-13_809-12dupCC duplication Uncertain significance rs201427429 GRCh38 Chromosome 1, 229431914: 229431915
25 ACTA1 NM_001100.3(ACTA1): c.108C> T (p.Ile36=) single nucleotide variant Uncertain significance rs143948837 GRCh37 Chromosome 1, 229568755: 229568755
26 TPM3 NM_152263.3(TPM3): c.378-13C> T single nucleotide variant Uncertain significance rs367548433 GRCh37 Chromosome 1, 154145690: 154145690
27 TPM3 NM_152263.3(TPM3): c.378-13C> T single nucleotide variant Uncertain significance rs367548433 GRCh38 Chromosome 1, 154173214: 154173214
28 TPM3 NM_152263.3(TPM3): c.804C> T (p.Tyr268=) single nucleotide variant Uncertain significance rs762511246 GRCh37 Chromosome 1, 154141831: 154141831
29 TPM3 NM_152263.3(TPM3): c.804C> T (p.Tyr268=) single nucleotide variant Uncertain significance rs762511246 GRCh38 Chromosome 1, 154169355: 154169355
30 TPM3 NM_152263.3(TPM3): c.*389G> A single nucleotide variant Likely benign rs74731791 GRCh37 Chromosome 1, 154140024: 154140024
31 TPM3 NM_152263.3(TPM3): c.*389G> A single nucleotide variant Likely benign rs74731791 GRCh38 Chromosome 1, 154167548: 154167548
32 TPM3 NM_152263.3(TPM3): c.*2138T> C single nucleotide variant Uncertain significance rs566002553 GRCh37 Chromosome 1, 154138275: 154138275
33 TPM3 NM_152263.3(TPM3): c.*2138T> C single nucleotide variant Uncertain significance rs566002553 GRCh38 Chromosome 1, 154165799: 154165799
34 TPM3 NM_152263.3(TPM3): c.*2185C> T single nucleotide variant Benign rs10908723 GRCh37 Chromosome 1, 154138228: 154138228
35 TPM3 NM_152263.3(TPM3): c.*2185C> T single nucleotide variant Benign rs10908723 GRCh38 Chromosome 1, 154165752: 154165752
36 TPM3 NM_152263.3(TPM3): c.*2211A> C single nucleotide variant Benign rs6672584 GRCh37 Chromosome 1, 154138202: 154138202
37 TPM3 NM_152263.3(TPM3): c.*2211A> C single nucleotide variant Benign rs6672584 GRCh38 Chromosome 1, 154165726: 154165726
38 TPM3 NM_152263.3(TPM3): c.*2220T> C single nucleotide variant Uncertain significance rs886045306 GRCh37 Chromosome 1, 154138193: 154138193
39 TPM3 NM_152263.3(TPM3): c.*2220T> C single nucleotide variant Uncertain significance rs886045306 GRCh38 Chromosome 1, 154165717: 154165717
40 TPM3 NM_152263.3(TPM3): c.*2240C> T single nucleotide variant Uncertain significance rs561949016 GRCh37 Chromosome 1, 154138173: 154138173
41 TPM3 NM_152263.3(TPM3): c.*2240C> T single nucleotide variant Uncertain significance rs561949016 GRCh38 Chromosome 1, 154165697: 154165697
42 TPM3 NM_152263.3(TPM3): c.*2774G> C single nucleotide variant Uncertain significance rs886045303 GRCh37 Chromosome 1, 154137639: 154137639
43 TPM3 NM_152263.3(TPM3): c.*2774G> C single nucleotide variant Uncertain significance rs886045303 GRCh38 Chromosome 1, 154165163: 154165163
44 TPM3 NM_152263.3(TPM3): c.*2784C> T single nucleotide variant Benign rs9628669 GRCh37 Chromosome 1, 154137629: 154137629
45 TPM3 NM_152263.3(TPM3): c.*2784C> T single nucleotide variant Benign rs9628669 GRCh38 Chromosome 1, 154165153: 154165153
46 TPM3 NM_152263.3(TPM3): c.*3756dupC duplication Uncertain significance rs574252210 GRCh37 Chromosome 1, 154136657: 154136657
47 TPM3 NM_152263.3(TPM3): c.*3756dupC duplication Uncertain significance rs574252210 GRCh38 Chromosome 1, 154164181: 154164181
48 TPM3 NM_152263.3(TPM3): c.*3756C> A single nucleotide variant Uncertain significance rs555633635 GRCh37 Chromosome 1, 154136657: 154136657
49 TPM3 NM_152263.3(TPM3): c.*3756C> A single nucleotide variant Uncertain significance rs555633635 GRCh38 Chromosome 1, 154164181: 154164181
50 TPM3 NM_152263.3(TPM3): c.*4194G> A single nucleotide variant Uncertain significance rs886045300 GRCh37 Chromosome 1, 154136219: 154136219

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 KEGG:

38
# 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 10.88 ACTA1 NEB TNNT1 TPM2 TPM3
2 10.51 TPM2 TPM3

GO Terms for Nemaline Myopathy

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.92 ACTA1 CFL2 MIR134 MIR210 MIR423 MIR432
2 cytoskeleton GO:0005856 9.91 ACTA1 CFL2 KLHL41 LMOD3 NEB TPM2
3 Cul3-RING ubiquitin ligase complex GO:0031463 9.49 KLHL40 KLHL41
4 M band GO:0031430 9.48 KLHL41 LMOD3
5 I band GO:0031674 9.46 CFL2 KLHL40
6 striated muscle thin filament GO:0005865 9.43 ACTA1 LMOD3
7 actin filament GO:0005884 9.43 ACTA1 TPM2 TPM3
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 9.32 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.65 CFL2 TPM2 TPM3
2 muscle contraction GO:0006936 9.65 ACTA1 LMOD3 TNNT1 TPM2 TPM3
3 negative regulation of sprouting angiogenesis GO:1903671 9.51 MIR487B MIR495
4 sarcomere organization GO:0045214 9.5 CFL2 KLHL41 TNNT1
5 negative regulation of vascular endothelial cell proliferation GO:1905563 9.49 MIR487B MIR495
6 striated muscle contraction GO:0006941 9.46 KLHL41 LMOD3
7 skeletal muscle fiber development GO:0048741 9.46 KLHL40 KLHL41 LMOD3 ACTA1
8 skeletal muscle thin filament assembly GO:0030240 9.43 ACTA1 LMOD3
9 myofibril assembly GO:0030239 9.4 KLHL41 LMOD3
10 negative regulation of artery morphogenesis GO:1905652 9.37 MIR487B MIR495
11 muscle filament sliding GO:0030049 9.35 TNNT1 NEB ACTA1 TPM2 TPM3
12 gene silencing by miRNA GO:0035195 9.32 MIR99B MIR495 MIR487B MIR432 MIR423 MIR382

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 9.1 MIR134 MIR210 MIR214 MIR423 MIR487B MIR495

Sources for Nemaline Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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