MPCETM
MCID: NML004
MIFTS: 44

Nemaline Myopathy 3 (MPCETM)

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

Aliases & Classifications for Nemaline Myopathy 3

MalaCards integrated aliases for Nemaline Myopathy 3:

Name: Nemaline Myopathy 3 58 12 76 30 6 15 74
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 58 76 30 13 6
Nemaline Myopathy 3, Autosomal Dominant or Recessive 58 12 6
Myopathy, Actin, Congenital, with Cores 58 30 6
Nem3 58 12 76
Congenital Myopathy with Excess of Thin Filaments 60
Nemaline Myopathy 3 with Intranuclear Rods 76
Actin Myopathy Congenital with Cores 76
Acta1-Related Nemaline Myopathy 76
Actin-Accumulation Myopathy 74
Myopathy, Nemaline, Type 3 41
Nemaline Myopathy, Type 3 77
Actin Myopathy 60
Mpcetm 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity
highly variable phenotype
slowly or nonprogressive
death in childhood often results from respiratory insufficiency
onset usually in childhood (infancy to teens)
rare adult onset



Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Nemaline Myopathy 3

OMIM : 58 Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001). Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see 255310), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). (161800)

MalaCards based summary : Nemaline Myopathy 3, also known as myopathy, actin, congenital, with excess of thin myofilaments, is related to van der woude syndrome 1 and actin-accumulation myopathy, and has symptoms including generalized muscle weakness, waddling gait and facial paresis. An important gene associated with Nemaline Myopathy 3 is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Cell Cycle Control of Chromosomal Replication. Affiliated tissues include bone and skeletal muscle, and related phenotypes are hyperreflexia and hypertonia

Disease Ontology : 12 A nemaline myopathy that has material basis in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.

UniProtKB/Swiss-Prot : 76 Myopathy, actin, congenital, with excess of thin myofilaments: A congenital muscular disorder characterized at histological level by areas of sarcoplasm devoid of normal myofibrils and mitochondria, and replaced with dense masses of thin filaments. Central cores, rods, ragged red fibers, and necrosis are absent. Nemaline myopathy 3: 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 : 77 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

Related Diseases for Nemaline Myopathy 3

Graphical network of the top 20 diseases related to Nemaline Myopathy 3:



Diseases related to Nemaline Myopathy 3

Symptoms & Phenotypes for Nemaline Myopathy 3

Human phenotypes related to Nemaline Myopathy 3:

33 (show all 37)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 33 occasional (7.5%) HP:0001347
2 hypertonia 33 occasional (7.5%) HP:0001276
3 dilated cardiomyopathy 33 occasional (7.5%) HP:0001644
4 rigidity 33 occasional (7.5%) HP:0002063
5 high palate 33 HP:0000218
6 dysphagia 33 HP:0002015
7 scoliosis 33 HP:0002650
8 hyperlordosis 33 HP:0003307
9 facial palsy 33 HP:0010628
10 neonatal hypotonia 33 HP:0001319
11 feeding difficulties in infancy 33 HP:0008872
12 respiratory insufficiency due to muscle weakness 33 HP:0002747
13 generalized muscle weakness 33 HP:0003324
14 retrognathia 33 HP:0000278
15 pes cavus 33 HP:0001761
16 waddling gait 33 HP:0002515
17 spinal rigidity 33 HP:0003306
18 emg: myopathic abnormalities 33 HP:0003458
19 mask-like facies 33 HP:0000298
20 arthrogryposis multiplex congenita 33 HP:0002804
21 motor delay 33 HP:0001270
22 type 1 muscle fiber predominance 33 HP:0003803
23 nemaline bodies 33 HP:0003798
24 slender build 33 HP:0001533
25 polyhydramnios 33 HP:0001561
26 areflexia 33 HP:0001284
27 hyporeflexia 33 HP:0001265
28 proximal muscle weakness 33 HP:0003701
29 decreased fetal movement 33 HP:0001558
30 myopathic facies 33 HP:0002058
31 neck flexor weakness 33 HP:0003722
32 limb muscle weakness 33 HP:0003690
33 frequent falls 33 HP:0002359
34 bulbar palsy 33 HP:0001283
35 emg: neuropathic changes 33 HP:0003445
36 mildly elevated creatine kinase 33 HP:0008180
37 late-onset distal muscle weakness 33 HP:0003810

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
dysphagia
poor feeding due to muscle weakness

Respiratory:
respiratory insufficiency due to muscle weakness

Skeletal Feet:
pes cavus

Growth Other:
slender build

Head And Neck Mouth:
high-arched palate
tent-shaped mouth

Head And Neck Eyes:
extraocular muscles are not involved

Cardiovascular Heart:
dilated cardiomyopathy (rare)

Prenatal Manifestations Movement:
decreased fetal movement (severe form)

Laboratory Abnormalities:
normal or mildly increased serum creatine kinase

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

Head And Neck Face:
retrognathia
myopathic facies
facial muscle weakness
elongated face
expressionless face

Muscle Soft Tissue:
type 1 muscle fiber predominance
neck muscle weakness
frequent falls
facial muscle weakness
distal limb muscle weakness occurs later
more
Neurologic Central Nervous System:
areflexia
hyporeflexia
delayed motor development
severe form may never achieve sitting or walking
absent gag reflex
more
Skeletal:
joint contractures
joint deformities (may develop over time)
arthrogryposis (severe form)

Head And Neck Neck:
neck flexor muscle weakness

Neurologic Peripheral Nervous System:
hyperreflexia (uncommon)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (severe form)

Clinical features from OMIM:

161800

UMLS symptoms related to Nemaline Myopathy 3:


generalized muscle weakness, waddling gait, facial paresis

GenomeRNAi Phenotypes related to Nemaline Myopathy 3 according to GeneCards Suite gene sharing:

27 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.8 POLE
2 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.8 TENT4A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.8 POLE
4 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.8 TENT4A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.8 TENT4A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.8 POLE
7 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.8 POLE TENT4A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.8 POLE TENT4A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.8 POLE
10 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.8 TENT4A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.8 POLE
12 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.8 TENT4A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.8 TENT4A

Drugs & Therapeutics for Nemaline Myopathy 3

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 3

Genetic Tests for Nemaline Myopathy 3

Genetic tests related to Nemaline Myopathy 3:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 3 30 ACTA1
2 Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 30
3 Myopathy, Actin, Congenital, with Cores 30

Anatomical Context for Nemaline Myopathy 3

MalaCards organs/tissues related to Nemaline Myopathy 3:

42
Bone, Skeletal Muscle

Publications for Nemaline Myopathy 3

Articles related to Nemaline Myopathy 3:

(show all 12)
# Title Authors Year
1
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3). ( 29328520 )
2018
2
Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature. ( 28780987 )
2017
3
Nemaline myopathy with dilated cardiomyopathy in childhood. ( 23650303 )
2013
4
Clinical utility gene card for: nemaline myopathy. ( 22510848 )
2012
5
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. ( 22442437 )
2012
6
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. ( 19553116 )
2009
7
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. ( 17705262 )
2007
8
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. ( 16427282 )
2006
9
Missense mutations of ACTA1 cause dominant congenital myopathy with cores. ( 15520409 )
2004
10
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. ( 11333380 )
2001
11
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. ( 10508519 )
1999
12
Congenital myopathy with excess of thin myofilaments. ( 9185179 )
1997

Variations for Nemaline Myopathy 3

UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 3:

76 (show top 50) (show all 77)
# Symbol AA change Variation ID SNP ID
1 ACTA1 p.Gly17Arg VAR_011680 rs121909521
2 ACTA1 p.Leu96Pro VAR_011681 rs121909519
3 ACTA1 p.Asn117Ser VAR_011682 rs121909520
4 ACTA1 p.Ile138Met VAR_011683 rs121909526
5 ACTA1 p.Val165Leu VAR_011684 rs121909522
6 ACTA1 p.Glu261Val VAR_011685 rs121909523
7 ACTA1 p.Gly270Cys VAR_011686 rs121909525
8 ACTA1 p.Val372Phe VAR_011687
9 ACTA1 p.Met134Val VAR_013470
10 ACTA1 p.Met271Arg VAR_013471
11 ACTA1 p.His42Tyr VAR_015579
12 ACTA1 p.Gly184Asp VAR_015580
13 ACTA1 p.Arg185Gly VAR_015581
14 ACTA1 p.Arg185Cys VAR_015582
15 ACTA1 p.Arg258His VAR_015583
16 ACTA1 p.Gln265Leu VAR_015584
17 ACTA1 p.Asn282Lys VAR_015585
18 ACTA1 p.Asp288Gly VAR_015586
19 ACTA1 p.Ile359Leu VAR_015587 rs121909524
20 ACTA1 p.Asp3Tyr VAR_062424 rs121909527
21 ACTA1 p.Asp27Asn VAR_062425
22 ACTA1 p.Val37Leu VAR_062426
23 ACTA1 p.Pro40Leu VAR_062427
24 ACTA1 p.Gln43Arg VAR_062428
25 ACTA1 p.Gly44Val VAR_062429
26 ACTA1 p.Val45Phe VAR_062430 rs398123562
27 ACTA1 p.Ile66Asn VAR_062431
28 ACTA1 p.Thr68Ile VAR_062432
29 ACTA1 p.Glu74Lys VAR_062433
30 ACTA1 p.His75Leu VAR_062434
31 ACTA1 p.His75Arg VAR_062435
32 ACTA1 p.Ile77Leu VAR_062436
33 ACTA1 p.Thr79Ala VAR_062437
34 ACTA1 p.Glu85Lys VAR_062438
35 ACTA1 p.Ala116Thr VAR_062439
36 ACTA1 p.Asn117Thr VAR_062440
37 ACTA1 p.Arg118His VAR_062441
38 ACTA1 p.Val136Ala VAR_062442
39 ACTA1 p.Ala140Pro VAR_062443
40 ACTA1 p.Leu142Pro VAR_062444
41 ACTA1 p.Gly148Asp VAR_062445
42 ACTA1 p.Thr150Asn VAR_062446
43 ACTA1 p.Asp156Asn VAR_062447
44 ACTA1 p.Val165Met VAR_062448 rs121909522
45 ACTA1 p.Ala172Gly VAR_062449
46 ACTA1 p.Asp181Gly VAR_062450
47 ACTA1 p.Asp181His VAR_062451
48 ACTA1 p.Asp181Asn VAR_062452
49 ACTA1 p.Arg185Asp VAR_062453
50 ACTA1 p.Arg185Ser VAR_062454 rs106479428

ClinVar genetic disease variations for Nemaline Myopathy 3:

6 (show top 50) (show all 164)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTA1 NM_001100.3(ACTA1): c.536G> T (p.Arg179Leu) single nucleotide variant Likely pathogenic rs727503797 GRCh37 Chromosome 1, 229568097: 229568097
2 ACTA1 NM_001100.3(ACTA1): c.536G> T (p.Arg179Leu) single nucleotide variant Likely pathogenic rs727503797 GRCh38 Chromosome 1, 229432350: 229432350
3 ACTA1 NM_001100.3(ACTA1): c.766C> T (p.Arg256Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 229432036: 229432036
4 ACTA1 NM_001100.3(ACTA1): c.766C> T (p.Arg256Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 229567783: 229567783
5 ACTA1 NM_001100.3(ACTA1): c.1003C> G (p.Pro335Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 229431630: 229431630
6 ACTA1 NM_001100.3(ACTA1): c.1003C> G (p.Pro335Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 229567377: 229567377
7 ACTA1 NM_001100.3(ACTA1): c.36C> A (p.Cys12Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 229433080: 229433080
8 ACTA1 NM_001100.3(ACTA1): c.36C> A (p.Cys12Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 229568827: 229568827
9 ACTA1 NM_001100.3(ACTA1): c.148G> T (p.Gly50Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 229568609: 229568609
10 ACTA1 NM_001100.3(ACTA1): c.148G> T (p.Gly50Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 229432862: 229432862
11 ACTA1 NM_001100.3(ACTA1): c.168G> A (p.Val56=) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 229432842: 229432842
12 ACTA1 NM_001100.3(ACTA1): c.168G> A (p.Val56=) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 229568589: 229568589
13 ACTA1 NM_001100.3(ACTA1): c.275_277delTCT (p.Phe92del) deletion Pathogenic GRCh37 Chromosome 1, 229568480: 229568482
14 ACTA1 NM_001100.3(ACTA1): c.275_277delTCT (p.Phe92del) deletion Pathogenic GRCh38 Chromosome 1, 229432733: 229432735
15 ACTA1 NM_001100.3(ACTA1): c.803T> C (p.Phe268Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 229431999: 229431999
16 ACTA1 NM_001100.3(ACTA1): c.803T> C (p.Phe268Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 229567746: 229567746
17 ACTA1 NM_001100.3(ACTA1): c.1031G> A (p.Gly344Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 229431602: 229431602
18 ACTA1 NM_001100.3(ACTA1): c.1031G> A (p.Gly344Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 229567349: 229567349
19 ACTA1 NM_001100.3(ACTA1): c.897C> A (p.Asn299Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 229567561: 229567561
20 ACTA1 NM_001100.3(ACTA1): c.897C> A (p.Asn299Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 229431814: 229431814
21 ACTA1 NM_001100.3(ACTA1): c.1004C> T (p.Pro335Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 229431629: 229431629
22 ACTA1 NM_001100.3(ACTA1): c.1004C> T (p.Pro335Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 229567376: 229567376
23 ACTA1 NM_001100.3(ACTA1): c.82G> C (p.Ala28Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 229433034: 229433034
24 ACTA1 NM_001100.3(ACTA1): c.82G> C (p.Ala28Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 229568781: 229568781
25 ACTA1 NM_001100.3(ACTA1): c.539T> C (p.Leu180Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 229432347: 229432347
26 ACTA1 NM_001100.3(ACTA1): c.539T> C (p.Leu180Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 229568094: 229568094
27 ACTA1 NM_001100.3(ACTA1): c.146T> G (p.Met49Arg) single nucleotide variant Pathogenic rs1553255506 GRCh38 Chromosome 1, 229432864: 229432864
28 ACTA1 NM_001100.3(ACTA1): c.146T> G (p.Met49Arg) single nucleotide variant Pathogenic rs1553255506 GRCh37 Chromosome 1, 229568611: 229568611
29 ACTA1 NM_001100.3(ACTA1): c.796C> T (p.Pro266Ser) single nucleotide variant Uncertain significance rs1553255405 GRCh37 Chromosome 1, 229567753: 229567753
30 ACTA1 NM_001100.3(ACTA1): c.796C> T (p.Pro266Ser) single nucleotide variant Uncertain significance rs1553255405 GRCh38 Chromosome 1, 229432006: 229432006
31 ACTA1 NM_001100.3(ACTA1): c.1132T> C (p.Ter378Gln) single nucleotide variant Pathogenic rs1553255288 GRCh37 Chromosome 1, 229567248: 229567248
32 ACTA1 NM_001100.3(ACTA1): c.1132T> C (p.Ter378Gln) single nucleotide variant Pathogenic rs1553255288 GRCh38 Chromosome 1, 229431501: 229431501
33 ACTA1 NM_001100.3(ACTA1): c.461T> C (p.Val154Ala) single nucleotide variant Likely pathogenic rs1553255446 GRCh37 Chromosome 1, 229568172: 229568172
34 ACTA1 NM_001100.3(ACTA1): c.461T> C (p.Val154Ala) single nucleotide variant Likely pathogenic rs1553255446 GRCh38 Chromosome 1, 229432425: 229432425
35 ACTA1 NM_001100.3(ACTA1): c.1001C> T (p.Pro334Leu) single nucleotide variant Uncertain significance rs1553255312 GRCh38 Chromosome 1, 229431632: 229431632
36 ACTA1 NM_001100.3(ACTA1): c.1001C> T (p.Pro334Leu) single nucleotide variant Uncertain significance rs1553255312 GRCh37 Chromosome 1, 229567379: 229567379
37 ACTA1 NM_001100.3(ACTA1): c.449C> G (p.Thr150Ser) single nucleotide variant Pathogenic rs1553255479 GRCh38 Chromosome 1, 229432561: 229432561
38 ACTA1 NM_001100.3(ACTA1): c.449C> G (p.Thr150Ser) single nucleotide variant Pathogenic rs1553255479 GRCh37 Chromosome 1, 229568308: 229568308
39 ACTA1 NM_001100.3(ACTA1): c.598T> A (p.Tyr200Asn) single nucleotide variant Uncertain significance rs1553255432 GRCh38 Chromosome 1, 229432288: 229432288
40 ACTA1 NM_001100.3(ACTA1): c.598T> A (p.Tyr200Asn) single nucleotide variant Uncertain significance rs1553255432 GRCh37 Chromosome 1, 229568035: 229568035
41 ACTA1 NM_001100.3(ACTA1): c.616+1G> A single nucleotide variant Pathogenic rs111812550 GRCh38 Chromosome 1, 229432269: 229432269
42 ACTA1 NM_001100.3(ACTA1): c.616+1G> A single nucleotide variant Pathogenic rs111812550 GRCh37 Chromosome 1, 229568016: 229568016
43 ACTA1 NM_001100.3(ACTA1): c.645G> A (p.Lys215=) single nucleotide variant Likely benign rs1553255420 GRCh38 Chromosome 1, 229432157: 229432157
44 ACTA1 NM_001100.3(ACTA1): c.645G> A (p.Lys215=) single nucleotide variant Likely benign rs1553255420 GRCh37 Chromosome 1, 229567904: 229567904
45 ACTA1 NM_001100.3(ACTA1): c.808+6C> A single nucleotide variant Uncertain significance rs200342114 GRCh38 Chromosome 1, 229431988: 229431988
46 ACTA1 NM_001100.3(ACTA1): c.808+6C> A single nucleotide variant Uncertain significance rs200342114 GRCh37 Chromosome 1, 229567735: 229567735
47 ACTA1 NM_001100.3(ACTA1): c.812T> G (p.Met271Arg) single nucleotide variant Likely pathogenic rs1553255360 GRCh38 Chromosome 1, 229431899: 229431899
48 ACTA1 NM_001100.3(ACTA1): c.812T> G (p.Met271Arg) single nucleotide variant Likely pathogenic rs1553255360 GRCh37 Chromosome 1, 229567646: 229567646
49 ACTA1 NM_001100.3(ACTA1): c.1054T> C (p.Ser352Pro) single nucleotide variant Likely pathogenic rs1553255301 GRCh38 Chromosome 1, 229431579: 229431579
50 ACTA1 NM_001100.3(ACTA1): c.1054T> C (p.Ser352Pro) single nucleotide variant Likely pathogenic rs1553255301 GRCh37 Chromosome 1, 229567326: 229567326

Expression for Nemaline Myopathy 3

Search GEO for disease gene expression data for Nemaline Myopathy 3.

Pathways for Nemaline Myopathy 3

GO Terms for Nemaline Myopathy 3

Cellular components related to Nemaline Myopathy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 8.92 POLE ELL POLM TENT4A

Biological processes related to Nemaline Myopathy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA biosynthetic process GO:0071897 8.62 POLE POLM

Molecular functions related to Nemaline Myopathy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-directed DNA polymerase activity GO:0003887 8.96 POLE POLM
2 nucleotidyltransferase activity GO:0016779 8.8 POLE POLM TENT4A

Sources for Nemaline Myopathy 3

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
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75 UMLS via Orphanet
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