NEM3
MCID: NML004
MIFTS: 47

Nemaline Myopathy 3 (NEM3)

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

Aliases & Classifications for Nemaline Myopathy 3

MalaCards integrated aliases for Nemaline Myopathy 3:

Name: Nemaline Myopathy 3 57 12 72 29 6 15 70
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 57 72 13 6
Nemaline Myopathy 3, Autosomal Dominant or Recessive 57 12 29 6
Myopathy, Actin, Congenital, with Cores 57 29 6
Nem3 57 12 72
Congenital Myopathy with Excess of Thin Filaments 58
Nemaline Myopathy 3 with Intranuclear Rods 72
Actin Myopathy Congenital with Cores 72
Acta1-Related Nemaline Myopathy 72
Actin-Accumulation Myopathy 70
Myopathy, Nemaline, Type 3 39
Nemaline Myopathy, Type 3 73
Actin Myopathy 58
Mpcetm 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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: 58  
Rare neurological diseases


Summaries for Nemaline Myopathy 3

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Nemaline Myopathy 3, also known as myopathy, actin, congenital, with excess of thin myofilaments, is related to nemaline myopathy 11, autosomal recessive and nemaline myopathy 8, and has symptoms including waddling gait, generalized muscle weakness and facial paresis. An important gene associated with Nemaline Myopathy 3 is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include 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 : 72 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 : 73 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary... more...

Related Diseases for Nemaline Myopathy 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 11, autosomal recessive 31.2 LMOD3 KLHL41 KBTBD13
2 nemaline myopathy 8 31.1 LMOD3 KLHL40 KBTBD13
3 nemaline myopathy 10 30.8 LMOD3 KLHL41 KLHL40 KBTBD13
4 nemaline myopathy 2 30.3 NEB LMOD3 KLHL41 KLHL40 KBTBD13
5 nemaline myopathy 29.6 NEB KLHL41 ACTA1
6 respiratory failure 29.2 LMOD3 KLHL40 ACTA1
7 myopathy 28.6 NEB LMOD3 KLHL41 KLHL40 KBTBD13 ACTA1
8 batten-turner congenital myopathy 28.4 NEB LMOD3 KLHL41 KLHL40 KBTBD13 ACTA1
9 van der woude syndrome 1 11.7
10 actin-accumulation myopathy 11.4
11 foot drop 9.9 NEB ACTA1
12 hyaline body myopathy 9.9 NEB ACTA1
13 myopathy, spheroid body 9.9 NEB LMOD3
14 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.9 NEB ACTA1
15 branchiootic syndrome 1 9.8
16 hypertrophic cardiomyopathy 9.8
17 dilated cardiomyopathy 9.8
18 intranuclear rod myopathy 9.8
19 hypotonia 9.8
20 nemaline myopathy 4 9.8 RD3 LMOD3
21 intermediate congenital nemaline myopathy 9.7 NEB KLHL41 ACTA1
22 nemaline myopathy 9 9.6 LMOD3 KLHL41 KLHL40 KBTBD13
23 typical congenital nemaline myopathy 9.6 NEB LMOD3 KLHL41 ACTA1
24 childhood-onset nemaline myopathy 9.6 NEB KLHL41 KBTBD13 ACTA1
25 congenital myasthenic syndrome 9.6 KLHL40 KBTBD13 ACTA1
26 centronuclear myopathy 9.5 NEB KLHL40 KBTBD13 ACTA1
27 multiple pterygium syndrome, escobar variant 9.4 NEB LMOD3 KLHL41 KLHL40
28 severe congenital nemaline myopathy 9.3 NEB LMOD3 KLHL41 KLHL40 ACTA1
29 congenital structural myopathy 9.1 NEB LMOD3 KLHL41 KLHL40 KBTBD13 ACTA1
30 congenital fiber-type disproportion 9.1 NEB LMOD3 KLHL41 KLHL40 KBTBD13 ACTA1

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
dysphagia
poor feeding due to muscle weakness

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

Muscle Soft Tissue:
type 1 muscle fiber predominance
frequent falls
neck muscle weakness
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
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

Respiratory:
respiratory insufficiency due to muscle weakness

Growth Other:
slender build

Skeletal Feet:
pes cavus

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 (Updated 20-May-2021)

UMLS symptoms related to Nemaline Myopathy 3:


waddling gait; generalized muscle weakness; facial paresis

MGI Mouse Phenotypes related to Nemaline Myopathy 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.5 ACTA1 KBTBD13 KLHL40 KLHL41 LMOD3 NEB
2 muscle MP:0005369 9.1 ACTA1 KBTBD13 KLHL40 KLHL41 LMOD3 NEB

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 29 ACTA1
2 Myopathy, Actin, Congenital, with Cores 29
3 Nemaline Myopathy 3, Autosomal Dominant or Recessive 29

Anatomical Context for Nemaline Myopathy 3

MalaCards organs/tissues related to Nemaline Myopathy 3:

40
Skeletal Muscle

Publications for Nemaline Myopathy 3

Articles related to Nemaline Myopathy 3:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Nemaline myopathy with dilated cardiomyopathy in childhood. 57 6
23650303 2013
2
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. 6 57
22442437 2012
3
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. 6 57
19553116 2009
4
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. 6 57
16427282 2006
5
Missense mutations of ACTA1 cause dominant congenital myopathy with cores. 57 6
15520409 2004
6
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 6 57
11333380 2001
7
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. 6 57
10508519 1999
8
Congenital myopathy with excess of thin myofilaments. 6 57
9185179 1997
9
Cytoplasmic body myopathy revisited. 6
30253894 2018
10
ACTA1 Novel Likely Pathogenic Variant in a Family With Dilated Cardiomyopathy. 6
30354303 2018
11
Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies. 6
29274205 2018
12
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods. 6
28416349 2017
13
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark. 6
28357410 2017
14
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 6
27447704 2017
15
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy. 57
27242277 2016
16
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
17
Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations. 6
26172852 2016
18
Structure of the F-actin-tropomyosin complex. 6
25470062 2015
19
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. 6
25635128 2015
20
Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event. 6
24787270 2015
21
Molecular findings among patients referred for clinical whole-exome sequencing. 6
25326635 2014
22
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. 6
25214167 2014
23
Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy. 6
24852243 2014
24
Congenital fiber type disproportion myopathy caused by LMNA mutations. 6
24642510 2014
25
Intranuclear rods myopathy with autonomic dysfunction. 6
23102861 2013
26
Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle. 6
23294764 2013
27
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 6
23394784 2013
28
Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations. 6
21514153 2011
29
LOVD v.2.0: the next generation in gene variant databases. 6
21520333 2011
30
Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation. 6
20621480 2010
31
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. 6
20303757 2010
32
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 6
19562689 2009
33
Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification. 6
19553121 2009
34
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. 6
17705262 2007
35
Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes. 6
17227580 2007
36
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). 6
16945536 2006
37
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 57
16917880 2006
38
Canine and feline models of human inherited muscle diseases. 57
15694134 2005
39
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. 57
15198992 2004
40
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 6
15236405 2004
41
Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects. 6
15226407 2004
42
Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy. 6
14733965 2004
43
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). 6
12921789 2003
44
Nemaline myopathy: a clinical study of 143 cases. 57
11558787 2001
45
Report of the 83rd ENMC International Workshop: 4th Workshop on Nemaline Myopathy, 22-24 September 2000, Naarden, The Netherlands. 6
11525890 2001
46
Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments. 57
11516997 2001
47
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. 57
10619714 1999
48
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. 57
9321754 1997
49
Nemaline myopathy in the neonate: two case reports. 57
8789770 1996
50
Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. 57
7767098 1995

Variations for Nemaline Myopathy 3

ClinVar genetic disease variations for Nemaline Myopathy 3:

6 (show top 50) (show all 176)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTA1 NM_001100.3(ACTA1):c.515C>A (p.Ala172Glu) SNV Pathogenic 128261 rs587780272 GRCh37: 1:229568118-229568118
GRCh38: 1:229432371-229432371
2 ACTA1 NM_001100.3(ACTA1):c.809G>A (p.Gly270Asp) SNV Pathogenic 434074 rs1553255362 GRCh37: 1:229567649-229567649
GRCh38: 1:229431902-229431902
3 ACTA1 NM_001100.3(ACTA1):c.287T>C (p.Leu96Pro) SNV Pathogenic 18279 rs121909519 GRCh37: 1:229568470-229568470
GRCh38: 1:229432723-229432723
4 ACTA1 NM_001100.3(ACTA1):c.782A>T (p.Glu261Val) SNV Pathogenic 18283 rs121909523 GRCh37: 1:229567767-229567767
GRCh38: 1:229432020-229432020
5 ACTA1 NM_001100.3(ACTA1):c.1075A>C (p.Ile359Leu) SNV Pathogenic 18284 rs121909524 GRCh37: 1:229567305-229567305
GRCh38: 1:229431558-229431558
6 ACTA1 NM_001100.3(ACTA1):c.808G>T (p.Gly270Cys) SNV Pathogenic 18285 rs121909525 GRCh37: 1:229567741-229567741
GRCh38: 1:229431994-229431994
7 ACTA1 NM_001100.3(ACTA1):c.414C>G (p.Ile138Met) SNV Pathogenic 18286 rs121909526 GRCh37: 1:229568343-229568343
GRCh38: 1:229432596-229432596
8 ACTA1 NM_001100.3(ACTA1):c.493G>A (p.Val165Met) SNV Pathogenic 18292 rs121909522 GRCh37: 1:229568140-229568140
GRCh38: 1:229432393-229432393
9 ACTA1 NM_001100.3(ACTA1):c.7G>T (p.Asp3Tyr) SNV Pathogenic 18287 rs121909527 GRCh37: 1:229568856-229568856
GRCh38: 1:229433109-229433109
10 ACTA1 NM_001100.3(ACTA1):c.1007A>C (p.Glu336Ala) SNV Pathogenic 18288 rs121909528 GRCh37: 1:229567373-229567373
GRCh38: 1:229431626-229431626
11 ACTA1 NM_001100.3(ACTA1):c.616+1G>A SNV Pathogenic 464128 rs111812550 GRCh37: 1:229568016-229568016
GRCh38: 1:229432269-229432269
12 ACTA1 NM_001100.3(ACTA1):c.553C>T (p.Arg185Cys) SNV Pathogenic 464125 rs1064794287 GRCh37: 1:229568080-229568080
GRCh38: 1:229432333-229432333
13 ACTA1 NM_001100.3(ACTA1):c.84_85insT (p.Pro29fs) Insertion Pathogenic 464132 rs753923758 GRCh37: 1:229568778-229568779
GRCh38: 1:229433031-229433032
14 ACTA1 NM_001100.3(ACTA1):c.660C>A (p.Tyr220Ter) SNV Pathogenic 464130 rs201823652 GRCh37: 1:229567889-229567889
GRCh38: 1:229432142-229432142
15 ACTA1 NM_001100.3(ACTA1):c.598T>A (p.Tyr200Asn) SNV Pathogenic 464126 rs1553255432 GRCh37: 1:229568035-229568035
GRCh38: 1:229432288-229432288
16 ACTA1 NM_001100.3(ACTA1):c.109G>T (p.Val37Leu) SNV Pathogenic 464114 rs1553255521 GRCh37: 1:229568754-229568754
GRCh38: 1:229433007-229433007
17 ACTA1 NM_001100.3(ACTA1):c.1132T>C (p.Ter378Gln) SNV Pathogenic 532768 rs1553255288 GRCh37: 1:229567248-229567248
GRCh38: 1:229431501-229431501
18 ACTA1 NM_001100.3(ACTA1):c.449C>G (p.Thr150Ser) SNV Pathogenic 532769 rs1553255479 GRCh37: 1:229568308-229568308
GRCh38: 1:229432561-229432561
19 ACTA1 NM_001100.3(ACTA1):c.146T>G (p.Met49Arg) SNV Pathogenic 532772 rs1553255506 GRCh37: 1:229568611-229568611
GRCh38: 1:229432864-229432864
20 ACTA1 NM_001100.3(ACTA1):c.419C>G (p.Ala140Gly) SNV Pathogenic 565462 rs1435160117 GRCh37: 1:229568338-229568338
GRCh38: 1:229432591-229432591
21 ACTA1 NM_001100.3(ACTA1):c.275_277del (p.Phe92del) Deletion Pathogenic 570214 rs1558082053 GRCh37: 1:229568480-229568482
GRCh38: 1:229432733-229432735
22 ACTA1 NM_001100.3(ACTA1):c.36C>A (p.Cys12Ter) SNV Pathogenic 576643 rs1025502215 GRCh37: 1:229568827-229568827
GRCh38: 1:229433080-229433080
23 ACTA1 NM_001100.3(ACTA1):c.803T>C (p.Phe268Ser) SNV Pathogenic 577383 rs1558081605 GRCh37: 1:229567746-229567746
GRCh38: 1:229431999-229431999
24 ACTA1 NM_001100.3(ACTA1):c.557A>G (p.Asp186Gly) SNV Pathogenic 644740 rs1571893319 GRCh37: 1:229568076-229568076
GRCh38: 1:229432329-229432329
25 ACTA1 NM_001100.3(ACTA1):c.617C>T (p.Ala206Val) SNV Pathogenic 650485 rs1571893145 GRCh37: 1:229567932-229567932
GRCh38: 1:229432185-229432185
26 ACTA1 NM_001100.3(ACTA1):c.821C>A (p.Ala274Glu) SNV Pathogenic 654415 rs1553255357 GRCh37: 1:229567637-229567637
GRCh38: 1:229431890-229431890
27 ACTA1 NM_001100.4(ACTA1):c.712del (p.Leu238fs) Deletion Pathogenic 662552 rs1211561143 GRCh37: 1:229567837-229567837
GRCh38: 1:229432090-229432090
28 ACTA1 NM_001100.4(ACTA1):c.489C>A (p.His163Gln) SNV Pathogenic 692085 rs1571893383 GRCh37: 1:229568144-229568144
GRCh38: 1:229432397-229432397
29 ACTA1 NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg) SNV Pathogenic 801632 rs1571893885 GRCh37: 1:229568548-229568548
GRCh38: 1:229432801-229432801
30 ACTA1 NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) SNV Pathogenic 807360 rs748592740 GRCh37: 1:229567811-229567811
GRCh38: 1:229432064-229432064
31 ACTA1 NM_001100.4(ACTA1):c.767G>A (p.Arg256His) SNV Pathogenic 836935 GRCh37: 1:229567782-229567782
GRCh38: 1:229432035-229432035
32 ACTA1 NM_001100.4(ACTA1):c.143G>T (p.Gly48Val) SNV Pathogenic 843072 GRCh37: 1:229568614-229568614
GRCh38: 1:229432867-229432867
33 ACTA1 NM_001100.4(ACTA1):c.128A>G (p.Gln43Arg) SNV Pathogenic 844831 GRCh37: 1:229568735-229568735
GRCh38: 1:229432988-229432988
34 ACTA1 NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile) SNV Pathogenic 941283 GRCh37: 1:229568521-229568521
GRCh38: 1:229432774-229432774
35 ACTA1 NM_001100.4(ACTA1):c.282C>A (p.Asn94Lys) SNV Pathogenic 948238 GRCh37: 1:229568475-229568475
GRCh38: 1:229432728-229432728
36 ACTA1 NM_001100.3(ACTA1):c.868G>C (p.Asp290His) SNV Pathogenic 521371 rs1553255354 GRCh37: 1:229567590-229567590
GRCh38: 1:229431843-229431843
37 ACTA1 NM_001100.4(ACTA1):c.402G>T (p.Met134Ile) SNV Pathogenic 870613 GRCh37: 1:229568355-229568355
GRCh38: 1:229432608-229432608
38 ACTA1 NM_001100.3(ACTA1):c.142G>A (p.Gly48Ser) SNV Pathogenic 196311 rs794727488 GRCh37: 1:229568615-229568615
GRCh38: 1:229432868-229432868
39 ACTA1 NM_001100.4(ACTA1):c.49G>A (p.Gly17Ser) SNV Pathogenic 951759 GRCh37: 1:229568814-229568814
GRCh38: 1:229433067-229433067
40 ACTA1 NM_001100.3(ACTA1):c.616G>A (p.Ala206Thr) SNV Pathogenic 381641 rs1057521119 GRCh37: 1:229568017-229568017
GRCh38: 1:229432270-229432270
41 ACTA1 NM_001100.4(ACTA1):c.217dup (p.Ile73fs) Duplication Pathogenic 817462 rs1571893878 GRCh37: 1:229568539-229568540
GRCh38: 1:229432792-229432793
42 ACTA1 NM_001100.3(ACTA1):c.809-2A>T SNV Pathogenic 617580 rs1301902450 GRCh37: 1:229567651-229567651
GRCh38: 1:229431904-229431904
43 ACTA1 NM_001100.3(ACTA1):c.350A>G (p.Asn117Ser) SNV Pathogenic 18280 rs121909520 GRCh37: 1:229568407-229568407
GRCh38: 1:229432660-229432660
44 ACTA1 NM_001100.3(ACTA1):c.109G>C (p.Val37Leu) SNV Pathogenic 639455 rs1553255521 GRCh37: 1:229568754-229568754
GRCh38: 1:229433007-229433007
45 ACTA1 NM_001100.3(ACTA1):c.49G>C (p.Gly17Arg) SNV Pathogenic 18281 rs121909521 GRCh37: 1:229568814-229568814
GRCh38: 1:229433067-229433067
46 ACTA1 NM_001100.3(ACTA1):c.493G>T (p.Val165Leu) SNV Pathogenic 18282 rs121909522 GRCh37: 1:229568140-229568140
GRCh38: 1:229432393-229432393
47 ACTA1 NM_001100.3(ACTA1):c.984G>C (p.Lys328Asn) SNV Pathogenic 50318 rs398122936 GRCh37: 1:229567474-229567474
GRCh38: 1:229431727-229431727
48 ACTA1 NM_001100.4(ACTA1):c.400A>G (p.Met134Val) SNV Pathogenic 1031830 GRCh37: 1:229568357-229568357
GRCh38: 1:229432610-229432610
49 ACTA1 NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg) SNV Pathogenic 228243 rs121909525 GRCh37: 1:229567741-229567741
GRCh38: 1:229431994-229431994
50 ACTA1 NM_001100.3(ACTA1):c.16G>A (p.Glu6Lys) SNV Pathogenic 42107 rs367543048 GRCh37: 1:229568847-229568847
GRCh38: 1:229433100-229433100

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

72 (show top 50) (show all 79)
# 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 rs155325536
11 ACTA1 p.His42Tyr VAR_015579
12 ACTA1 p.Gly184Asp VAR_015580
13 ACTA1 p.Arg185Gly VAR_015581
14 ACTA1 p.Arg185Cys VAR_015582 rs106479428
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 rs155325552
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 rs155325550
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 rs155325548
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

Expression for Nemaline Myopathy 3

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

Pathways for Nemaline Myopathy 3

Pathways related to Nemaline Myopathy 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.48 NEB ACTA1

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 cytoplasm GO:0005737 9.97 TENT4A RD3 NEB LMOD3 KLHL41 KLHL40
2 sarcomere GO:0030017 9.4 NEB ACTA1
3 myofibril GO:0030016 9.32 NEB LMOD3
4 Cul3-RING ubiquitin ligase complex GO:0031463 9.26 KLHL41 KLHL40
5 M band GO:0031430 9.16 LMOD3 KLHL41
6 A band GO:0031672 8.96 LMOD3 KLHL40
7 striated muscle thin filament GO:0005865 8.62 LMOD3 ACTA1

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

# Name GO ID Score Top Affiliating Genes
1 muscle filament sliding GO:0030049 9.32 NEB ACTA1
2 striated muscle contraction GO:0006941 9.26 LMOD3 KLHL41
3 myofibril assembly GO:0030239 9.16 LMOD3 KLHL41
4 skeletal muscle thin filament assembly GO:0030240 8.96 LMOD3 ACTA1
5 skeletal muscle fiber development GO:0048741 8.92 LMOD3 KLHL41 KLHL40 ACTA1

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

# Name GO ID Score Top Affiliating Genes
1 nucleotidyltransferase activity GO:0016779 8.62 TENT4A POLM

Sources for Nemaline Myopathy 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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