NEM3
MCID: NML004
MIFTS: 47

Nemaline Myopathy 3 (NEM3)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Nemaline Myopathy 3

MalaCards integrated aliases for Nemaline Myopathy 3:

Name: Nemaline Myopathy 3 57 11 42 73 14 71
Nemaline Myopathy 3, Autosomal Dominant or Recessive 57 11 28 5
Congenital Myopathy with Excess of Thin Filaments 42 58 28 5
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 57 73 12
Myopathy, Actin, Congenital, with Cores 57 28 5
Nem3 57 11 73
Actin-Accumulation Myopathy 42 71
Actin Accumulation Myopathy 28 5
Actin Myopathy 42 58
Nemaline Myopathy 3 with Intranuclear Rods 73
Actin Myopathy Congenital with Cores 73
Actin Filament Aggregate Myopathy 42
Acta1-Related Nemaline Myopathy 73
Myopathy, Nemaline, Type 3 38
Nemaline Myopathy, Type 3 75
Mpcetm 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

MalaCards based summary: Nemaline Myopathy 3, also known as nemaline myopathy 3, autosomal dominant or recessive, is related to van der woude syndrome and nemaline myopathy 2, and has symptoms including waddling gait, facial paresis and generalized muscle weakness. An important gene associated with Nemaline Myopathy 3 is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways is "DNA repair pathways, full network". Affiliated tissues include skeletal muscle, and related phenotypes are hyperreflexia and dilated cardiomyopathy

MedlinePlus Genetics: 42 Actin-accumulation myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with actin-accumulation myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. Affected babies are sometimes described as "floppy" and may be unable to move on their own.The severe muscle weakness that occurs in actin-accumulation myopathy also affects the muscles used for breathing. Individuals with this disorder may take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Frequent respiratory infections and life-threatening breathing difficulties can occur. Because of the respiratory problems, most affected individuals do not survive past infancy. Those who do survive have delayed development of motor skills such as sitting, crawling, standing, and walking.The name actin-accumulation myopathy derives from characteristic accumulations in muscle cells of filaments composed of a protein called actin. These filaments can be seen when muscle tissue is viewed under a microscope.

Orphanet: 58 A rare, genetic, congenital myopathy disorder characterized by variable degrees of muscular weakness, frequently associated with severe nemaline myopathy-like disease (including neonatal hypotonia, lack of spontaneous movements, feeding and swallowing difficulties, frequent respiratory infections, respiratory insufficiency, early death), and histopathologic findings of large, densely packed, subsarcolemmal accumulations of thin, actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy.

UniProtKB/Swiss-Prot 73 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.

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.

Disease Ontology: 11 A nemaline myopathy that has material basis in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.

Wikipedia: 75 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 top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 van der woude syndrome 11.7
2 nemaline myopathy 2 11.0
3 nemaline myopathy 8 11.0
4 nemaline myopathy 10 11.0
5 nemaline myopathy 11, autosomal recessive 11.0
6 mismatch repair cancer syndrome 10.0 POLE EXO1
7 nemaline myopathy 10.0
8 myopathy 10.0
9 hydrops of gallbladder 10.0 ALB ACTA1
10 cowpox 9.9 TNFRSF1A KLHL2
11 dipetalonemiasis 9.9 MT-CO1 ALB
12 capillariasis 9.9 MT-CO1 ALB
13 chronic congestive splenomegaly 9.9 MT-CO1 ALB
14 chronic meningitis 9.9 MT-CO1 ALB
15 meningovascular neurosyphilis 9.9 MT-CO1 ALB
16 tick infestation 9.9 MT-CO1 ALB
17 taeniasis 9.9 MT-CO1 ALB
18 babesiosis 9.9 MT-CO1 ALB
19 parasitic ectoparasitic infectious disease 9.9 MT-CO1 ALB
20 fascioliasis 9.9 MT-CO1 ALB
21 myelitis 9.9 TNFRSF1A MOG
22 endosteal hyperostosis, autosomal dominant 9.8
23 cardiomyopathy, familial hypertrophic, 1 9.8
24 cryptorchidism, unilateral or bilateral 9.8
25 batten-turner congenital myopathy 9.8
26 respiratory failure 9.8
27 hypertrophic cardiomyopathy 9.8
28 dilated cardiomyopathy 9.8
29 intranuclear rod myopathy 9.8
30 hypotonia 9.8
31 cardiac tamponade 9.8 TNFRSF1A ALB
32 epidemic typhus 9.8 MT-CO1 ALB
33 hypersensitivity reaction type iv disease 9.8 MT-CO1 ALB
34 polyradiculoneuropathy 9.8 TNFRSF1A ALB
35 filariasis 9.8 MT-CO1 ALB
36 cranial nerve palsy 9.8 MOG ALB
37 miller fisher syndrome 9.8 MOG ALB
38 facial nerve disease 9.8 MOG ALB
39 parasitic helminthiasis infectious disease 9.8 MT-CO1 ALB
40 papilledema 9.8 MOG ALB
41 facial paralysis 9.8 MOG ALB
42 pericardial effusion 9.7 TNFRSF1A ALB
43 chickenpox 9.7 MOG ALB
44 aseptic meningitis 9.7 MOG ALB
45 autoimmune disease of peripheral nervous system 9.7 MOG ALB
46 demyelinating polyneuropathy 9.7 MOG ALB
47 west nile encephalitis 9.7 MOG ALB
48 xeroderma pigmentosum, variant type 9.7 TENT4A POLM EXO1
49 parasitic protozoa infectious disease 9.7 MT-CO1 KLHL2 ALB
50 meningoencephalitis 9.6 MOG ALB

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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
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
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 24-Oct-2022)

UMLS symptoms related to Nemaline Myopathy 3:


waddling gait; facial paresis; generalized muscle weakness

MGI Mouse Phenotypes related to Nemaline Myopathy 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 ACTA1 ALB MOG MT-CO1 TNFRSF1A

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 Actin Accumulation Myopathy 28 ACTA1
2 Myopathy, Actin, Congenital, with Cores 28
3 Congenital Myopathy with Excess of Thin Filaments 28
4 Nemaline Myopathy 3, Autosomal Dominant or Recessive 28

Anatomical Context for Nemaline Myopathy 3

Organs/tissues related to Nemaline Myopathy 3:

MalaCards : Skeletal Muscle
ODiseA: Skeletal Muscle

Publications for Nemaline Myopathy 3

Articles related to Nemaline Myopathy 3:

(show top 50) (show all 93)
# Title Authors PMID Year
1
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. 62 57 5
10508519 1999
2
Congenital myopathy with excess of thin myofilaments. 62 57 5
9185179 1997
3
Nemaline myopathy with dilated cardiomyopathy in childhood. 57 5
23650303 2013
4
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. 57 5
22442437 2012
5
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. 57 5
19553116 2009
6
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. 57 5
16427282 2006
7
Missense mutations of ACTA1 cause dominant congenital myopathy with cores. 57 5
15520409 2004
8
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 57 5
11333380 2001
9
Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations. 62 5
26172852 2016
10
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 62 5
19562689 2009
11
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). 62 5
12921789 2003
12
Asymmetric muscle weakness due to ACTA1 mosaic mutations. 5
32989108 2020
13
Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1. 5
30732915 2019
14
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service. 5
31127727 2019
15
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark. 5
28357410 2017
16
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 5
27447704 2017
17
Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany. 5
29172004 2017
18
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy. 57
27242277 2016
19
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 5
27854218 2016
20
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. 5
25938801 2015
21
Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1). 5
25747004 2015
22
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. 5
25635128 2015
23
Congenital fiber type disproportion myopathy caused by LMNA mutations. 5
24642510 2014
24
A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations. 5
23305948 2013
25
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. 5
17705262 2007
26
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 57
16917880 2006
27
Canine and feline models of human inherited muscle diseases. 57
15694134 2005
28
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
29
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 5
15236405 2004
30
Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects. 5
15226407 2004
31
Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy. 5
14733965 2004
32
Report of the 83rd ENMC International Workshop: 4th Workshop on Nemaline Myopathy, 22-24 September 2000, Naarden, The Netherlands. 5
11525890 2001
33
Nemaline myopathy: a clinical study of 143 cases. 57
11558787 2001
34
Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments. 57
11516997 2001
35
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. 57
10619714 1999
36
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. 57
9321754 1997
37
Nemaline myopathy in the neonate: two case reports. 57
8789770 1996
38
Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. 57
7767098 1995
39
Adult onset of nemaline myopathy presenting as respiratory insufficiency. 57
8552868 1995
40
Two siblings with nemaline myopathy presenting with rigid spine syndrome. 57
7919974 1994
41
Exclusion of two candidate loci for autosomal recessive nemaline myopathy. 57
8151647 1994
42
Intranuclear rods in severe congenital nemaline myopathy. 57
8232959 1993
43
Genetics of congenital nemaline myopathy: a study of 10 families. 57
2213842 1990
44
Alpha-actinin and myosin light chains in congenital nemaline myopathy. 57
2360957 1990
45
Congenital nemaline myopathy. A clinical follow-up of twelve patients. 57
2926439 1989
46
Pathology of congenital nemaline myopathy. A follow-up study. 57
3356991 1988
47
Early fatal nemaline myopathy: case report and review. 57
2826279 1987
48
Adult onset of nemaline myopathy presenting as diaphragmatic paralysis. 57
3819745 1987
49
Nemaline cardiomyopathy. 57
3728322 1986
50
Nemaline myopathy as a cause of sleep hypoventilation. 57
3081871 1986

Variations for Nemaline Myopathy 3

ClinVar genetic disease variations for Nemaline Myopathy 3:

5 (show top 50) (show all 252)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTA1 NM_001100.4(ACTA1):c.287T>C (p.Leu96Pro) SNV Pathogenic
18279 rs121909519 GRCh37: 1:229568470-229568470
GRCh38: 1:229432723-229432723
2 ACTA1 NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg) SNV Pathogenic
Pathogenic
18281 rs121909521 GRCh37: 1:229568814-229568814
GRCh38: 1:229433067-229433067
3 ACTA1 NM_001100.4(ACTA1):c.493G>T (p.Val165Leu) SNV Pathogenic
Pathogenic
18282 rs121909522 GRCh37: 1:229568140-229568140
GRCh38: 1:229432393-229432393
4 ACTA1 NM_001100.4(ACTA1):c.1075A>C (p.Ile359Leu) SNV Pathogenic
18284 rs121909524 GRCh37: 1:229567305-229567305
GRCh38: 1:229431558-229431558
5 ACTA1 NM_001100.4(ACTA1):c.808G>T (p.Gly270Cys) SNV Pathogenic
Pathogenic
18285 rs121909525 GRCh37: 1:229567741-229567741
GRCh38: 1:229431994-229431994
6 ACTA1 NM_001100.4(ACTA1):c.414C>G (p.Ile138Met) SNV Pathogenic
18286 rs121909526 GRCh37: 1:229568343-229568343
GRCh38: 1:229432596-229432596
7 ACTA1 NM_001100.4(ACTA1):c.7G>T (p.Asp3Tyr) SNV Pathogenic
18287 rs121909527 GRCh37: 1:229568856-229568856
GRCh38: 1:229433109-229433109
8 ACTA1 NM_001100.4(ACTA1):c.1007A>C (p.Glu336Ala) SNV Pathogenic
18288 rs121909528 GRCh37: 1:229567373-229567373
GRCh38: 1:229431626-229431626
9 ACTA1 NM_001100.4(ACTA1):c.984G>C (p.Lys328Asn) SNV Pathogenic
50318 rs398122936 GRCh37: 1:229567474-229567474
GRCh38: 1:229431727-229431727
10 ACTA1 NM_001100.4(ACTA1):c.419C>G (p.Ala140Gly) SNV Pathogenic
565462 rs1435160117 GRCh37: 1:229568338-229568338
GRCh38: 1:229432591-229432591
11 ACTA1 NM_001100.4(ACTA1):c.809-2A>T SNV Pathogenic
617580 rs1301902450 GRCh37: 1:229567651-229567651
GRCh38: 1:229431904-229431904
12 ACTA1 NM_001100.4(ACTA1):c.489C>A (p.His163Gln) SNV Pathogenic
692085 rs1571893383 GRCh37: 1:229568144-229568144
GRCh38: 1:229432397-229432397
13 ACTA1 NM_001100.4(ACTA1):c.128A>G (p.Gln43Arg) SNV Pathogenic
844831 rs1659984269 GRCh37: 1:229568735-229568735
GRCh38: 1:229432988-229432988
14 ACTA1 NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg) SNV Pathogenic
801632 rs1571893885 GRCh37: 1:229568548-229568548
GRCh38: 1:229432801-229432801
15 ACTA1 NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) SNV Pathogenic
807360 rs748592740 GRCh37: 1:229567811-229567811
GRCh38: 1:229432064-229432064
16 ACTA1 NM_001100.4(ACTA1):c.868G>C (p.Asp290His) SNV Pathogenic
521371 rs1553255354 GRCh37: 1:229567590-229567590
GRCh38: 1:229431843-229431843
17 ACTA1 NM_001100.4(ACTA1):c.402G>T (p.Met134Ile) SNV Pathogenic
Likely Pathogenic
870613 rs1553255486 GRCh37: 1:229568355-229568355
GRCh38: 1:229432608-229432608
18 ACTA1 NM_001100.4(ACTA1):c.400A>G (p.Met134Val) SNV Pathogenic
1031830 rs1659974377 GRCh37: 1:229568357-229568357
GRCh38: 1:229432610-229432610
19 ACTA1 NM_001100.4(ACTA1):c.591G>T (p.Glu197Asp) SNV Pathogenic
224412 rs869312739 GRCh37: 1:229568042-229568042
GRCh38: 1:229432295-229432295
20 ACTA1 NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter) SNV Pathogenic
Likely Pathogenic
807361 rs1558081664 GRCh37: 1:229567867-229567867
GRCh38: 1:229432120-229432120
21 ACTA1 NM_001100.4(ACTA1):c.169G>C (p.Gly57Arg) SNV Pathogenic
1457959 GRCh37: 1:229568588-229568588
GRCh38: 1:229432841-229432841
22 ACTA1 NM_001100.4(ACTA1):c.846C>G (p.Asn282Lys) SNV Pathogenic
1457951 GRCh37: 1:229567612-229567612
GRCh38: 1:229431865-229431865
23 ACTA1 NM_001100.4(ACTA1):c.436del (p.Ala146fs) DEL Pathogenic
1459640 GRCh37: 1:229568321-229568321
GRCh38: 1:229432574-229432574
24 ACTA1 NM_001100.4(ACTA1):c.400del (p.Met134fs) DEL Pathogenic
1451534 GRCh37: 1:229568357-229568357
GRCh38: 1:229432610-229432610
25 ACTA1 NM_001100.4(ACTA1):c.155_158del (p.Lys52fs) DEL Pathogenic
1069121 GRCh37: 1:229568599-229568602
GRCh38: 1:229432852-229432855
26 ACTA1 NM_001100.4(ACTA1):c.181C>T (p.Gln61Ter) SNV Pathogenic
1074947 GRCh37: 1:229568576-229568576
GRCh38: 1:229432829-229432829
27 ACTA1 NM_001100.4(ACTA1):c.782A>T (p.Glu261Val) SNV Pathogenic
18283 rs121909523 GRCh37: 1:229567767-229567767
GRCh38: 1:229432020-229432020
28 ACTA1 NM_001100.4(ACTA1):c.84_85insT (p.Pro29fs) INSERT Pathogenic
464132 rs753923758 GRCh37: 1:229568778-229568779
GRCh38: 1:229433031-229433032
29 ACTA1 NM_001100.4(ACTA1):c.660C>A (p.Tyr220Ter) SNV Pathogenic
464130 rs201823652 GRCh37: 1:229567889-229567889
GRCh38: 1:229432142-229432142
30 ACTA1 NM_001100.4(ACTA1):c.36C>A (p.Cys12Ter) SNV Pathogenic
576643 rs1025502215 GRCh37: 1:229568827-229568827
GRCh38: 1:229433080-229433080
31 ACTA1 NM_001100.4(ACTA1):c.712del (p.Leu238fs) DEL Pathogenic
662552 rs1211561143 GRCh37: 1:229567837-229567837
GRCh38: 1:229432090-229432090
32 ACTA1 NM_001100.4(ACTA1):c.599A>G (p.Tyr200Cys) SNV Pathogenic
1072266 GRCh37: 1:229568034-229568034
GRCh38: 1:229432287-229432287
33 ACTA1 NM_001100.4(ACTA1):c.359A>T (p.Lys120Met) SNV Pathogenic
1685499 GRCh37: 1:229568398-229568398
GRCh38: 1:229432651-229432651
34 ACTA1 NM_001100.4(ACTA1):c.515C>A (p.Ala172Glu) SNV Pathogenic
Uncertain Significance
128261 rs587780272 GRCh37: 1:229568118-229568118
GRCh38: 1:229432371-229432371
35 ACTA1 NM_001100.4(ACTA1):c.350A>G (p.Asn117Ser) SNV Pathogenic
18280 rs121909520 GRCh37: 1:229568407-229568407
GRCh38: 1:229432660-229432660
36 ACTA1 NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp) SNV Pathogenic
434074 rs1553255362 GRCh37: 1:229567649-229567649
GRCh38: 1:229431902-229431902
37 ACTA1 NM_001100.4(ACTA1):c.616+1G>A SNV Pathogenic
464128 rs111812550 GRCh37: 1:229568016-229568016
GRCh38: 1:229432269-229432269
38 ACTA1 NM_001100.4(ACTA1):c.553C>T (p.Arg185Cys) SNV Pathogenic
464125 rs1064794287 GRCh37: 1:229568080-229568080
GRCh38: 1:229432333-229432333
39 ACTA1 NM_001100.4(ACTA1):c.142G>A (p.Gly48Ser) SNV Pathogenic
196311 rs794727488 GRCh37: 1:229568615-229568615
GRCh38: 1:229432868-229432868
40 ACTA1 NM_001100.4(ACTA1):c.598T>A (p.Tyr200Asn) SNV Pathogenic
464126 rs1553255432 GRCh37: 1:229568035-229568035
GRCh38: 1:229432288-229432288
41 ACTA1 NM_001100.4(ACTA1):c.109G>T (p.Val37Leu) SNV Pathogenic
Pathogenic
464114 rs1553255521 GRCh37: 1:229568754-229568754
GRCh38: 1:229433007-229433007
42 ACTA1 NM_001100.4(ACTA1):c.1132T>C (p.Ter378Gln) SNV Pathogenic
532768 rs1553255288 GRCh37: 1:229567248-229567248
GRCh38: 1:229431501-229431501
43 ACTA1 NM_001100.4(ACTA1):c.449C>G (p.Thr150Ser) SNV Pathogenic
532769 rs1553255479 GRCh37: 1:229568308-229568308
GRCh38: 1:229432561-229432561
44 ACTA1 NM_001100.4(ACTA1):c.461T>C (p.Val154Ala) SNV Pathogenic
532771 rs1553255446 GRCh37: 1:229568172-229568172
GRCh38: 1:229432425-229432425
45 ACTA1 NM_001100.4(ACTA1):c.146T>G (p.Met49Arg) SNV Pathogenic
532772 rs1553255506 GRCh37: 1:229568611-229568611
GRCh38: 1:229432864-229432864
46 ACTA1 NM_001100.4(ACTA1):c.275_277del (p.Phe92del) DEL Pathogenic
570214 rs1558082053 GRCh37: 1:229568480-229568482
GRCh38: 1:229432733-229432735
47 ACTA1 NM_001100.4(ACTA1):c.803T>C (p.Phe268Ser) SNV Pathogenic
577383 rs1558081605 GRCh37: 1:229567746-229567746
GRCh38: 1:229431999-229431999
48 ACTA1 NM_001100.4(ACTA1):c.557A>G (p.Asp186Gly) SNV Pathogenic
644740 rs1571893319 GRCh37: 1:229568076-229568076
GRCh38: 1:229432329-229432329
49 ACTA1 NM_001100.4(ACTA1):c.616G>A (p.Ala206Thr) SNV Pathogenic
381641 rs1057521119 GRCh37: 1:229568017-229568017
GRCh38: 1:229432270-229432270
50 ACTA1 NM_001100.4(ACTA1):c.617C>T (p.Ala206Val) SNV Pathogenic
650485 rs1571893145 GRCh37: 1:229567932-229567932
GRCh38: 1:229432185-229432185

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

73 (show top 50) (show all 80)
# 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 rs1553255360
11 ACTA1 p.His42Tyr VAR_015579
12 ACTA1 p.Gly184Asp VAR_015580
13 ACTA1 p.Arg185Gly VAR_015581
14 ACTA1 p.Arg185Cys VAR_015582 rs1064794287
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 rs1553255521
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 rs1553255502
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 rs1553255482
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 rs1064794287

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

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 8.8 POLM POLE

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 9.26 POLM POLE
2 nucleotidyltransferase activity GO:0016779 8.8 TENT4A POLM POLE

Sources for Nemaline Myopathy 3

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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