NEM3
MCID: NML004
MIFTS: 46

Nemaline Myopathy 3 (NEM3)

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 56 12 73 15 71
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 56 73 29 13 6
Nemaline Myopathy 3, Autosomal Dominant or Recessive 56 12 29 6
Congenital Myopathy with Excess of Thin Filaments 58 29 6
Myopathy, Actin, Congenital, with Cores 56 29 6
Nem3 56 12 73
Nemaline Myopathy 3 with Intranuclear Rods 73
Actin Myopathy Congenital with Cores 73
Acta1-Related Nemaline Myopathy 73
Actin-Accumulation Myopathy 71
Myopathy, Nemaline, Type 3 39
Nemaline Myopathy, Type 3 74
Actin Myopathy 58
Mpcetm 73

Characteristics:

OMIM:

56
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 : 56 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 nemaline myopathy 8 and nemaline myopathy 11, autosomal recessive, 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 is Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are hypertonia and hyperreflexia

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 : 73 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 : 74 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, 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 37)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 8 31.5 LMOD3 KLHL40 KBTBD13
2 nemaline myopathy 11, autosomal recessive 31.2 MYPN LMOD3 KBTBD13
3 nemaline myopathy 10 30.2 MYPN LMOD3 KLHL41 KLHL40 KBTBD13
4 nemaline myopathy 2 30.1 NEB MYPN LMOD3 KLHL41 KBTBD13
5 nemaline myopathy 30.0 NEB KLHL41 ACTA1
6 myopathy, congenital 29.0 NEB ACTA1
7 respiratory failure 28.4 MYPN LMOD3 KLHL40 ACTA1
8 myopathy 27.7 NEB MYPN LMOD3 KLHL41 KLHL40 KBTBD13
9 van der woude syndrome 1 11.9
10 actin-accumulation myopathy 11.6
11 foot drop 9.9 NEB ACTA1
12 nemaline myopathy 4 9.9 LMOD3 KLHL41 KBTBD13
13 hyaline body myopathy 9.9 NEB ACTA1
14 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.8 NEB ACTA1
15 endosteal hyperostosis, autosomal dominant 9.8
16 branchiootic syndrome 1 9.8
17 hypertrophic cardiomyopathy 9.8
18 dilated cardiomyopathy 9.8
19 intranuclear rod myopathy 9.8
20 hypotonia 9.8
21 cap myopathy 9.8 MYPN ACTA1
22 reducing body myopathy 1a 9.7 NEB KLHL40
23 intermediate congenital nemaline myopathy 9.7 NEB KLHL41 ACTA1
24 myopathy, myofibrillar, 4 9.5 NEB MYPN
25 nemaline myopathy 9 9.5 LMOD3 KLHL41 KLHL40 KBTBD13
26 typical congenital nemaline myopathy 9.4 NEB LMOD3 KLHL41 ACTA1
27 endocardial fibroelastosis 9.4 NEB MYPN
28 central core myopathy 9.4 NEB KLHL40 KBTBD13 ACTA1
29 centronuclear myopathy 9.3 NEB KLHL40 KBTBD13 ACTA1
30 myopathy, myofibrillar, 1 9.3 NEB MYPN
31 myofibrillar myopathy 9.3 NEB MYPN ACTA1
32 myopathy, spheroid body 9.3 NEB MYPN LMOD3
33 multiple pterygium syndrome, escobar variant 9.3 NEB LMOD3 KLHL41 KLHL40
34 severe congenital nemaline myopathy 9.1 NEB LMOD3 KLHL41 KLHL40 ACTA1
35 childhood-onset nemaline myopathy 8.9 NEB MYPN KLHL41 KBTBD13 ACTA1
36 congenital fiber-type disproportion 8.8 NEB LMOD3 KLHL41 KLHL40 KBTBD13 ACTA1
37 congenital structural myopathy 8.2 NEB MYPN LMOD3 KLHL41 KLHL40 KBTBD13

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

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
dysphagia
poor feeding due to muscle weakness

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

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

Respiratory:
respiratory insufficiency due to muscle weakness

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

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

UMLS symptoms related to Nemaline Myopathy 3:


generalized muscle weakness, waddling gait, facial paresis

MGI Mouse Phenotypes related to Nemaline Myopathy 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 ACTA1 KLHL40 KLHL41 LMOD3 MYPN 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 Congenital Myopathy with Excess of Thin Filaments 29 ACTA1
2 Myopathy, Actin, Congenital, with Cores 29
3 Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 29
4 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 57)
# Title Authors PMID Year
1
Nemaline myopathy with dilated cardiomyopathy in childhood. 6 56
23650303 2013
2
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. 56 6
22442437 2012
3
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. 56 6
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 56
16427282 2006
5
Missense mutations of ACTA1 cause dominant congenital myopathy with cores. 56 6
15520409 2004
6
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 56 6
11333380 2001
7
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. 6 56
10508519 1999
8
Congenital myopathy with excess of thin myofilaments. 56 6
9185179 1997
9
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy. 56
27242277 2016
10
Clinical utility gene card for: nemaline myopathy. 6
22510848 2012
11
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. 6
17705262 2007
12
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 56
16917880 2006
13
Canine and feline models of human inherited muscle diseases. 56
15694134 2005
14
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. 56
15198992 2004
15
Nemaline Myopathy – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301465 2002
16
Nemaline myopathy: a clinical study of 143 cases. 56
11558787 2001
17
Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments. 56
11516997 2001
18
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. 56
10619714 1999
19
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. 56
9321754 1997
20
Nemaline myopathy in the neonate: two case reports. 56
8789770 1996
21
Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. 56
7767098 1995
22
Adult onset of nemaline myopathy presenting as respiratory insufficiency. 56
8552868 1995
23
Two siblings with nemaline myopathy presenting with rigid spine syndrome. 56
7919974 1994
24
Exclusion of two candidate loci for autosomal recessive nemaline myopathy. 56
8151647 1994
25
Intranuclear rods in severe congenital nemaline myopathy. 56
8232959 1993
26
Genetics of congenital nemaline myopathy: a study of 10 families. 56
2213842 1990
27
Alpha-actinin and myosin light chains in congenital nemaline myopathy. 56
2360957 1990
28
Congenital nemaline myopathy. A clinical follow-up of twelve patients. 56
2926439 1989
29
Pathology of congenital nemaline myopathy. A follow-up study. 56
3356991 1988
30
Early fatal nemaline myopathy: case report and review. 56
2826279 1987
31
Adult onset of nemaline myopathy presenting as diaphragmatic paralysis. 56
3819745 1987
32
Nemaline cardiomyopathy. 56
3728322 1986
33
Nemaline myopathy as a cause of sleep hypoventilation. 56
3081871 1986
34
Fatal nemaline myopathy in infancy. 56
6733612 1984
35
Nemaline myopathy appearing in adults as cardiomyopathy. A clinicopathologic study. 56
6703949 1984
36
Nemaline myopathy presenting as cardiomyopathy. 56
6855830 1983
37
Congenital nemaline myopathy. I. Defective organization of alpha-actinin is restricted to muscle. 56
6302502 1983
38
Congenital nemaline myopathy. II. Quantitative changes in alpha-actinin and myosin in skeletal muscle. 56
6302503 1983
39
Familial nemaline myopathy. 56
6296713 1982
40
Nemaline myopathy and a mitochondrial neuromuscular disorder in one family. 56
6267500 1981
41
Genetics of congenital nemaline myopathy. 56
6997732 1980
42
Immunofluorescence microscopy of a myopathy. alpha-Actinin is a major constituent of nemaline rods. 56
6991264 1980
43
Nemaline (rod) myopathy: a possible cause of rapidly fatal infantile hypotonia. 56
581546 1979
44
Investigations on the inheritance of nemaline myopathy. 56
623532 1978
45
Nemaline myopathy. A family study with three autopsied cases. 56
4124693 1973
46
Rod myopathy: beta globulin peak and increased complement. 56
4121348 1973
47
New congenital myopathy with crystalline intranuclear inclusions. 56
5766493 1969
48
Skeletal muscle. Basic and clinical aspects and illustrative new diseases. 56
5342815 1967
49
Nemaline myopathy. A long-term clinicopathologic study of affected mother and daughter. 56
5939042 1966
50
Nemaline myopathy. The origin of nemaline structures. 56
5908457 1966

Variations for Nemaline Myopathy 3

ClinVar genetic disease variations for Nemaline Myopathy 3:

6 (show top 50) (show all 145) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTA1 NM_001100.3(ACTA1):c.660C>A (p.Tyr220Ter)SNV Pathogenic 464130 rs201823652 1:229567889-229567889 1:229432142-229432142
2 ACTA1 NM_001100.3(ACTA1):c.553C>T (p.Arg185Cys)SNV Pathogenic 464125 rs1064794287 1:229568080-229568080 1:229432333-229432333
3 ACTA1 NM_001100.3(ACTA1):c.109G>T (p.Val37Leu)SNV Pathogenic 464114 rs1553255521 1:229568754-229568754 1:229433007-229433007
4 ACTA1 NM_001100.3(ACTA1):c.84_85insT (p.Pro29fs)insertion Pathogenic 464132 rs753923758 1:229568778-229568779 1:229433031-229433032
5 ACTA1 NM_001100.3(ACTA1):c.616+1G>ASNV Pathogenic 464128 rs111812550 1:229568016-229568016 1:229432269-229432269
6 ACTA1 NM_001100.3(ACTA1):c.449C>G (p.Thr150Ser)SNV Pathogenic 532769 rs1553255479 1:229568308-229568308 1:229432561-229432561
7 ACTA1 NM_001100.3(ACTA1):c.146T>G (p.Met49Arg)SNV Pathogenic 532772 rs1553255506 1:229568611-229568611 1:229432864-229432864
8 ACTA1 NM_001100.3(ACTA1):c.803T>C (p.Phe268Ser)SNV Pathogenic 577383 rs1558081605 1:229567746-229567746 1:229431999-229431999
9 ACTA1 NM_001100.3(ACTA1):c.275_277del (p.Phe92del)deletion Pathogenic 570214 rs1558082053 1:229568480-229568482 1:229432733-229432735
10 ACTA1 NM_001100.3(ACTA1):c.1132T>C (p.Ter378Gln)SNV Pathogenic 532768 rs1553255288 1:229567248-229567248 1:229431501-229431501
11 ACTA1 NM_001100.3(ACTA1):c.36C>A (p.Cys12Ter)SNV Pathogenic 576643 rs1025502215 1:229568827-229568827 1:229433080-229433080
12 ACTA1 NM_001100.3(ACTA1):c.419C>G (p.Ala140Gly)SNV Pathogenic 565462 rs1435160117 1:229568338-229568338 1:229432591-229432591
13 ACTA1 NM_001100.3(ACTA1):c.809-2A>TSNV Pathogenic 617580 rs1301902450 1:229567651-229567651 1:229431904-229431904
14 ACTA1 NM_001100.3(ACTA1):c.821C>A (p.Ala274Glu)SNV Pathogenic 654415 1:229567637-229567637 1:229431890-229431890
15 ACTA1 NM_001100.3(ACTA1):c.617C>T (p.Ala206Val)SNV Pathogenic 650485 1:229567932-229567932 1:229432185-229432185
16 ACTA1 NM_001100.3(ACTA1):c.557A>G (p.Asp186Gly)SNV Pathogenic 644740 1:229568076-229568076 1:229432329-229432329
17 ACTA1 NM_001100.4(ACTA1):c.712del (p.Leu238fs)deletion Pathogenic 662552 1:229567837-229567837 1:229432090-229432090
18 ACTA1 NM_001100.3(ACTA1):c.109G>C (p.Val37Leu)SNV Pathogenic 639455 1:229568754-229568754 1:229433007-229433007
19 ACTA1 NM_001100.4(ACTA1):c.489C>A (p.His163Gln)SNV Pathogenic 692085 1:229568144-229568144 1:229432397-229432397
20 ACTA1 NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg)SNV Pathogenic 801632 1:229568548-229568548 1:229432801-229432801
21 ACTA1 NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu)SNV Pathogenic 807360 1:229567811-229567811 1:229432064-229432064
22 ACTA1 NM_001100.4(ACTA1):c.767G>A (p.Arg256His)SNV Pathogenic 836935 1:229567782-229567782 1:229432035-229432035
23 ACTA1 NM_001100.4(ACTA1):c.143G>T (p.Gly48Val)SNV Pathogenic 843072 1:229568614-229568614 1:229432867-229432867
24 ACTA1 NM_001100.3(ACTA1):c.287T>C (p.Leu96Pro)SNV Pathogenic 18279 rs121909519 1:229568470-229568470 1:229432723-229432723
25 ACTA1 NM_001100.3(ACTA1):c.350A>G (p.Asn117Ser)SNV Pathogenic 18280 rs121909520 1:229568407-229568407 1:229432660-229432660
26 ACTA1 NM_001100.3(ACTA1):c.493G>T (p.Val165Leu)SNV Pathogenic 18282 rs121909522 1:229568140-229568140 1:229432393-229432393
27 ACTA1 NM_001100.3(ACTA1):c.782A>T (p.Glu261Val)SNV Pathogenic 18283 rs121909523 1:229567767-229567767 1:229432020-229432020
28 ACTA1 NM_001100.3(ACTA1):c.1075A>C (p.Ile359Leu)SNV Pathogenic 18284 rs121909524 1:229567305-229567305 1:229431558-229431558
29 ACTA1 NM_001100.3(ACTA1):c.808G>T (p.Gly270Cys)SNV Pathogenic 18285 rs121909525 1:229567741-229567741 1:229431994-229431994
30 ACTA1 NM_001100.3(ACTA1):c.414C>G (p.Ile138Met)SNV Pathogenic 18286 rs121909526 1:229568343-229568343 1:229432596-229432596
31 ACTA1 NM_001100.3(ACTA1):c.7G>T (p.Asp3Tyr)SNV Pathogenic 18287 rs121909527 1:229568856-229568856 1:229433109-229433109
32 ACTA1 NM_001100.3(ACTA1):c.1007A>C (p.Glu336Ala)SNV Pathogenic 18288 rs121909528 1:229567373-229567373 1:229431626-229431626
33 ACTA1 NM_001100.3(ACTA1):c.881A>T (p.Asp294Val)SNV Pathogenic 18289 rs121909529 1:229567577-229567577 1:229431830-229431830
34 ACTA1 NM_001100.3(ACTA1):c.493G>A (p.Val165Met)SNV Pathogenic 18292 rs121909522 1:229568140-229568140 1:229432393-229432393
35 ACTA1 NM_001100.4(ACTA1):c.128A>G (p.Gln43Arg)SNV Pathogenic 844831 1:229568735-229568735 1:229432988-229432988
36 ACTA1 NM_001100.3(ACTA1):c.143G>A (p.Gly48Asp)SNV Pathogenic 42106 rs367543049 1:229568614-229568614 1:229432867-229432867
37 ACTA1 NM_001100.3(ACTA1):c.16G>A (p.Glu6Lys)SNV Pathogenic 42107 rs367543048 1:229568847-229568847 1:229433100-229433100
38 ACTA1 NM_001100.3(ACTA1):c.984G>C (p.Lys328Asn)SNV Pathogenic 50318 rs398122936 1:229567474-229567474 1:229431727-229431727
39 ACTA1 NM_001100.3(ACTA1):c.1074G>T (p.Trp358Cys)SNV Pathogenic 127188 rs587777354 1:229567306-229567306 1:229431559-229431559
40 ACTA1 NM_001100.3(ACTA1):c.515C>A (p.Ala172Glu)SNV Pathogenic 128261 rs587780272 1:229568118-229568118 1:229432371-229432371
41 ACTA1 NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg)SNV Pathogenic 228243 rs121909525 1:229567741-229567741 1:229431994-229431994
42 ACTA1 NM_001100.3(ACTA1):c.739G>C (p.Gly247Arg)SNV Pathogenic 381639 rs1057521117 1:229567810-229567810 1:229432063-229432063
43 ACTA1 NM_001100.3(ACTA1):c.616G>A (p.Ala206Thr)SNV Pathogenic/Likely pathogenic 381641 rs1057521119 1:229568017-229568017 1:229432270-229432270
44 ACTA1 NM_001100.3(ACTA1):c.133G>T (p.Val45Phe)SNV Pathogenic/Likely pathogenic 93548 rs398123562 1:229568624-229568624 1:229432877-229432877
45 ACTA1 NM_001100.4(ACTA1):c.217dup (p.Ile73fs)duplication Pathogenic/Likely pathogenic 817462 1:229568539-229568540 1:229432792-229432793
46 ACTA1 NM_001100.3(ACTA1):c.809G>A (p.Gly270Asp)SNV Pathogenic/Likely pathogenic 434074 rs1553255362 1:229567649-229567649 1:229431902-229431902
47 ACTA1 NM_001100.3(ACTA1):c.172G>A (p.Asp58Asn)SNV Likely pathogenic 427190 rs1085308014 1:229568585-229568585 1:229432838-229432838
48 ACTA1 NM_001100.3(ACTA1):c.402G>A (p.Met134Ile)SNV Likely pathogenic 464122 rs1553255486 1:229568355-229568355 1:229432608-229432608
49 ACTA1 NM_001100.3(ACTA1):c.197T>A (p.Ile66Asn)SNV Likely pathogenic 464119 rs1553255502 1:229568560-229568560 1:229432813-229432813
50 ACTA1 NM_001100.3(ACTA1):c.598T>A (p.Tyr200Asn)SNV Likely pathogenic 464126 rs1553255432 1:229568035-229568035 1:229432288-229432288

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

73 (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 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
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 10.03 TENT4A NEB MYPN LMOD3 KLHL41 KLHL40
2 myofibril GO:0030016 9.4 NEB LMOD3
3 Cul3-RING ubiquitin ligase complex GO:0031463 9.37 KLHL41 KLHL40
4 M band GO:0031430 9.32 LMOD3 KLHL41
5 I band GO:0031674 9.26 MYPN KLHL40
6 A band GO:0031672 9.16 LMOD3 KLHL40
7 striated muscle thin filament GO:0005865 8.96 LMOD3 ACTA1
8 sarcomere GO:0030017 8.8 NEB MYPN ACTA1

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

# Name GO ID Score Top Affiliating Genes
1 sarcomere organization GO:0045214 9.37 MYPN KLHL41
2 muscle filament sliding GO:0030049 9.32 NEB ACTA1
3 striated muscle contraction GO:0006941 9.26 LMOD3 KLHL41
4 myofibril assembly GO:0030239 9.16 LMOD3 KLHL41
5 skeletal muscle thin filament assembly GO:0030240 8.96 LMOD3 ACTA1
6 skeletal muscle fiber development GO:0048741 8.92 LMOD3 KLHL41 KLHL40 ACTA1

Sources for Nemaline Myopathy 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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