NEM3
MCID: NML004
MIFTS: 44

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 57 12 74 29 6 15 72
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 57 74 29 13 6
Nemaline Myopathy 3, Autosomal Dominant or Recessive 57 12 29 6
Myopathy, Actin, Congenital, with Cores 57 29 6
Nem3 57 12 74
Congenital Myopathy with Excess of Thin Filaments 59
Nemaline Myopathy 3 with Intranuclear Rods 74
Actin Myopathy Congenital with Cores 74
Acta1-Related Nemaline Myopathy 74
Actin-Accumulation Myopathy 72
Myopathy, Nemaline, Type 3 40
Nemaline Myopathy, Type 3 75
Actin Myopathy 59
Mpcetm 74

Characteristics:

OMIM:

57
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: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110927
ICD10 via Orphanet 34 G71.2
UMLS via Orphanet 73 C1834336 C3711389
Orphanet 59 ORPHA98904
UMLS 72 C1834336 C3711389

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)

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 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 : 74 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 : 75 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:

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
dysphagia
poor feeding due to muscle weakness

Respiratory:
respiratory insufficiency 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
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

Neurologic Central Nervous System:
areflexia
hyporeflexia
delayed motor development
severe form may never achieve sitting or walking
absent gag reflex
more
Skeletal Feet:
pes cavus

Growth Other:
slender build

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

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 Excess of Thin Myofilaments 29
3 Myopathy, Actin, Congenital, with Cores 29
4 Nemaline Myopathy 3, Autosomal Dominant or Recessive 29

Anatomical Context for Nemaline Myopathy 3

MalaCards organs/tissues related to Nemaline Myopathy 3:

41
Skeletal Muscle

Publications for Nemaline Myopathy 3

Articles related to Nemaline Myopathy 3:

(showing 57, show less)
# Title Authors PMID Year
1
Nemaline myopathy with dilated cardiomyopathy in childhood. 8 71
23650303 2013
2
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. 8 71
22442437 2012
3
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. 8 71
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. 8 71
16427282 2006
5
Missense mutations of ACTA1 cause dominant congenital myopathy with cores. 8 71
15520409 2004
6
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 8 71
11333380 2001
7
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. 8 71
10508519 1999
8
Congenital myopathy with excess of thin myofilaments. 8 71
9185179 1997
9
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy. 8
27242277 2016
10
Clinical utility gene card for: nemaline myopathy. 71
22510848 2012
11
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. 71
17705262 2007
12
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 8
16917880 2006
13
Canine and feline models of human inherited muscle diseases. 8
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. 8
15198992 2004
15
Nemaline Myopathy 71
20301465 2002
16
Nemaline myopathy: a clinical study of 143 cases. 8
11558787 2001
17
Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments. 8
11516997 2001
18
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. 8
10619714 1999
19
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. 8
9321754 1997
20
Nemaline myopathy in the neonate: two case reports. 8
8789770 1996
21
Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. 8
7767098 1995
22
Adult onset of nemaline myopathy presenting as respiratory insufficiency. 8
8552868 1995
23
Two siblings with nemaline myopathy presenting with rigid spine syndrome. 8
7919974 1994
24
Exclusion of two candidate loci for autosomal recessive nemaline myopathy. 8
8151647 1994
25
Intranuclear rods in severe congenital nemaline myopathy. 8
8232959 1993
26
Genetics of congenital nemaline myopathy: a study of 10 families. 8
2213842 1990
27
Alpha-actinin and myosin light chains in congenital nemaline myopathy. 8
2360957 1990
28
Congenital nemaline myopathy. A clinical follow-up of twelve patients. 8
2926439 1989
29
Pathology of congenital nemaline myopathy. A follow-up study. 8
3356991 1988
30
Early fatal nemaline myopathy: case report and review. 8
2826279 1987
31
Adult onset of nemaline myopathy presenting as diaphragmatic paralysis. 8
3819745 1987
32
Nemaline cardiomyopathy. 8
3728322 1986
33
Nemaline myopathy as a cause of sleep hypoventilation. 8
3081871 1986
34
Fatal nemaline myopathy in infancy. 8
6733612 1984
35
Nemaline myopathy appearing in adults as cardiomyopathy. A clinicopathologic study. 8
6703949 1984
36
Nemaline myopathy presenting as cardiomyopathy. 8
6855830 1983
37
Congenital nemaline myopathy. I. Defective organization of alpha-actinin is restricted to muscle. 8
6302502 1983
38
Congenital nemaline myopathy. II. Quantitative changes in alpha-actinin and myosin in skeletal muscle. 8
6302503 1983
39
Familial nemaline myopathy. 8
6296713 1982
40
Nemaline myopathy and a mitochondrial neuromuscular disorder in one family. 8
6267500 1981
41
Genetics of congenital nemaline myopathy. 8
6997732 1980
42
Immunofluorescence microscopy of a myopathy. alpha-Actinin is a major constituent of nemaline rods. 8
6991264 1980
43
Nemaline (rod) myopathy: a possible cause of rapidly fatal infantile hypotonia. 8
581546 1979
44
Investigations on the inheritance of nemaline myopathy. 8
623532 1978
45
Nemaline myopathy. A family study with three autopsied cases. 8
4124693 1973
46
Rod myopathy: beta globulin peak and increased complement. 8
4121348 1973
47
New congenital myopathy with crystalline intranuclear inclusions. 8
5766493 1969
48
Skeletal muscle. Basic and clinical aspects and illustrative new diseases. 8
5342815 1967
49
Nemaline myopathy. A long-term clinicopathologic study of affected mother and daughter. 8
5939042 1966
50
Nemaline myopathy. The origin of nemaline structures. 8
5908457 1966
51
New evidence for excessive accumulation of Z-band material in nemaline myopathy. 8
5218258 1965
52
HEREDITARY OCCURRENCE OF NEMALINE MYOPATHY. 8
14315666 1965
53
CONGENITAL NONPROGRESSIVE MYOPATHY. CENTRAL CORE DISEASE AND NEMALINE MYOPATHY IN ONE FAMILY. 8
14280602 1965
54
NEMALINE MYOPATHY; A SECOND CASE. 8
14147679 1964
55
NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY. 8
14090530 1963
56
LIGHT AND ELECTRON MICROSCOPIC STUDIES OF "MYOGRANULES" IN A CHILD WITH HYPOTONIA AND MUSCLE WEAKNESS. 8
14076166 1963
57
Immunoreactivity of antibodies raised against synthetic peptide fragments predicted from mid portions of dystrophin cDNA. 38
2205709 1990

Variations for Nemaline Myopathy 3

ClinVar genetic disease variations for Nemaline Myopathy 3:

6 (showing 97, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ACTA1 NM_001100.3(ACTA1): c.739G> C (p.Gly247Arg) single nucleotide variant Pathogenic rs1057521117 1:229567810-229567810 1:229432063-229432063
2 ACTA1 NM_001100.3(ACTA1): c.660C> A (p.Tyr220Ter) single nucleotide variant Pathogenic rs201823652 1:229567889-229567889 1:229432142-229432142
3 ACTA1 NM_001100.3(ACTA1): c.553C> T (p.Arg185Cys) single nucleotide variant Pathogenic rs1064794287 1:229568080-229568080 1:229432333-229432333
4 ACTA1 NM_001100.3(ACTA1): c.109G> T (p.Val37Leu) single nucleotide variant Pathogenic rs1553255521 1:229568754-229568754 1:229433007-229433007
5 ACTA1 NM_001100.3(ACTA1): c.84_85insT (p.Pro29fs) insertion Pathogenic rs753923758 1:229568778-229568779 1:229433031-229433032
6 ACTA1 NM_001100.3(ACTA1): c.616+1G> A single nucleotide variant Pathogenic rs111812550 1:229568016-229568016 1:229432269-229432269
7 ACTA1 NM_001100.3(ACTA1): c.449C> G (p.Thr150Ser) single nucleotide variant Pathogenic rs1553255479 1:229568308-229568308 1:229432561-229432561
8 ACTA1 NM_001100.3(ACTA1): c.1132T> C (p.Ter378Gln) single nucleotide variant Pathogenic rs1553255288 1:229567248-229567248 1:229431501-229431501
9 ACTA1 NM_001100.3(ACTA1): c.146T> G (p.Met49Arg) single nucleotide variant Pathogenic rs1553255506 1:229568611-229568611 1:229432864-229432864
10 ACTA1 NM_001100.3(ACTA1): c.287T> C (p.Leu96Pro) single nucleotide variant Pathogenic rs121909519 1:229568470-229568470 1:229432723-229432723
11 ACTA1 NM_001100.3(ACTA1): c.350A> G (p.Asn117Ser) single nucleotide variant Pathogenic rs121909520 1:229568407-229568407 1:229432660-229432660
12 ACTA1 NM_001100.3(ACTA1): c.493G> T (p.Val165Leu) single nucleotide variant Pathogenic rs121909522 1:229568140-229568140 1:229432393-229432393
13 ACTA1 NM_001100.3(ACTA1): c.1075A> C (p.Ile359Leu) single nucleotide variant Pathogenic rs121909524 1:229567305-229567305 1:229431558-229431558
14 ACTA1 NM_001100.3(ACTA1): c.808G> T (p.Gly270Cys) single nucleotide variant Pathogenic rs121909525 1:229567741-229567741 1:229431994-229431994
15 ACTA1 NM_001100.3(ACTA1): c.414C> G (p.Ile138Met) single nucleotide variant Pathogenic rs121909526 1:229568343-229568343 1:229432596-229432596
16 ACTA1 NM_001100.3(ACTA1): c.7G> T (p.Asp3Tyr) single nucleotide variant Pathogenic rs121909527 1:229568856-229568856 1:229433109-229433109
17 ACTA1 NM_001100.3(ACTA1): c.1007A> C (p.Glu336Ala) single nucleotide variant Pathogenic rs121909528 1:229567373-229567373 1:229431626-229431626
18 ACTA1 NM_001100.3(ACTA1): c.493G> A (p.Val165Met) single nucleotide variant Pathogenic rs121909522 1:229568140-229568140 1:229432393-229432393
19 ACTA1 NM_001100.3(ACTA1): c.143G> A (p.Gly48Asp) single nucleotide variant Pathogenic rs367543049 1:229568614-229568614 1:229432867-229432867
20 ACTA1 NM_001100.3(ACTA1): c.16G> A (p.Glu6Lys) single nucleotide variant Pathogenic rs367543048 1:229568847-229568847 1:229433100-229433100
21 ACTA1 NM_001100.3(ACTA1): c.984G> C (p.Lys328Asn) single nucleotide variant Pathogenic rs398122936 1:229567474-229567474 1:229431727-229431727
22 ACTA1 NM_001100.3(ACTA1): c.1074G> T (p.Trp358Cys) single nucleotide variant Pathogenic rs587777354 1:229567306-229567306 1:229431559-229431559
23 ACTA1 NM_001100.3(ACTA1): c.515C> A (p.Ala172Glu) single nucleotide variant Pathogenic rs587780272 1:229568118-229568118 1:229432371-229432371
24 ACTA1 NM_001100.3(ACTA1): c.803T> C (p.Phe268Ser) single nucleotide variant Pathogenic 1:229567746-229567746 1:229431999-229431999
25 ACTA1 NM_001100.3(ACTA1): c.275_277del (p.Phe92del) deletion Pathogenic 1:229568480-229568482 1:229432733-229432735
26 ACTA1 NM_001100.3(ACTA1): c.36C> A (p.Cys12Ter) single nucleotide variant Pathogenic 1:229568827-229568827 1:229433080-229433080
27 ACTA1 NM_001100.3(ACTA1): c.419C> G (p.Ala140Gly) single nucleotide variant Pathogenic 1:229568338-229568338 1:229432591-229432591
28 ACTA1 NM_001100.3(ACTA1): c.809-2A> T single nucleotide variant Pathogenic 1:229567651-229567651 1:229431904-229431904
29 ACTA1 NM_001100.3(ACTA1): c.712del (p.Leu238fs) deletion Pathogenic 1:229567837-229567837 1:229432092-229432092
30 ACTA1 NM_001100.3(ACTA1): c.557A> G (p.Asp186Gly) single nucleotide variant Pathogenic 1:229568076-229568076 1:229432329-229432329
31 ACTA1 NM_001100.3(ACTA1): c.109G> C (p.Val37Leu) single nucleotide variant Pathogenic 1:229568754-229568754 1:229433007-229433007
32 ACTA1 NM_001100.3(ACTA1): c.808G> C (p.Gly270Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121909525 1:229567741-229567741 1:229431994-229431994
33 ACTA1 NM_001100.3(ACTA1): c.133G> T (p.Val45Phe) single nucleotide variant Pathogenic/Likely pathogenic rs398123562 1:229568624-229568624 1:229432877-229432877
34 ACTA1 NM_001100.3(ACTA1): c.616G> A (p.Ala206Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1057521119 1:229568017-229568017 1:229432270-229432270
35 ACTA1 NM_001100.3(ACTA1): c.809G> A (p.Gly270Asp) single nucleotide variant Pathogenic/Likely pathogenic rs1553255362 1:229567649-229567649 1:229431902-229431902
36 ACTA1 NM_001100.3(ACTA1): c.521C> T (p.Pro174Leu) single nucleotide variant Likely pathogenic rs1057519311 1:229568112-229568112 1:229432365-229432365
37 ACTA1 NM_001100.3(ACTA1): c.172G> A (p.Asp58Asn) single nucleotide variant Likely pathogenic rs1085308014 1:229568585-229568585 1:229432838-229432838
38 ACTA1 NM_001100.3(ACTA1): c.461T> C (p.Val154Ala) single nucleotide variant Likely pathogenic rs1553255446 1:229568172-229568172 1:229432425-229432425
39 ACTA1 NM_001100.3(ACTA1): c.402G> A (p.Met134Ile) single nucleotide variant Likely pathogenic rs1553255486 1:229568355-229568355 1:229432608-229432608
40 ACTA1 NM_001100.3(ACTA1): c.197T> A (p.Ile66Asn) single nucleotide variant Likely pathogenic rs1553255502 1:229568560-229568560 1:229432813-229432813
41 ACTA1 NM_001100.3(ACTA1): c.1054T> C (p.Ser352Pro) single nucleotide variant Likely pathogenic rs1553255301 1:229567326-229567326 1:229431579-229431579
42 ACTA1 NM_001100.3(ACTA1): c.990+1G> T single nucleotide variant Likely pathogenic rs372686280 1:229567467-229567467 1:229431720-229431720
43 ACTA1 NM_001100.3(ACTA1): c.812T> G (p.Met271Arg) single nucleotide variant Likely pathogenic rs1553255360 1:229567646-229567646 1:229431899-229431899
44 ACTA1 NM_001100.3(ACTA1): c.442G> A (p.Gly148Ser) single nucleotide variant Likely pathogenic rs398123563 1:229568315-229568315 1:229432568-229432568
45 ACTA1 NM_001100.3(ACTA1): c.413T> A (p.Ile138Asn) single nucleotide variant Likely pathogenic rs587780271 1:229568344-229568344 1:229432597-229432597
46 ACTA1 NM_001100.3(ACTA1): c.142G> A (p.Gly48Ser) single nucleotide variant Likely pathogenic rs794727488 1:229568615-229568615 1:229432868-229432868
47 ACTA1 NM_001100.3(ACTA1): c.923A> G (p.Tyr308Cys) single nucleotide variant Likely pathogenic rs878854374 1:229567535-229567535 1:229431788-229431788
48 ACTA1 NM_001100.3(ACTA1): c.782A> T (p.Glu261Val) single nucleotide variant Likely pathogenic rs121909523 1:229567767-229567767 1:229432020-229432020
49 ACTA1 NM_001100.3(ACTA1): c.529A> G (p.Ile177Val) single nucleotide variant Likely pathogenic 1:229568104-229568104 1:229432357-229432357
50 ACTA1 NM_001100.3(ACTA1): c.1123A> G (p.Lys375Glu) single nucleotide variant Likely pathogenic 1:229567257-229567257 1:229431510-229431510
51 ACTA1 NM_001100.3(ACTA1): c.766C> T (p.Arg256Cys) single nucleotide variant Likely pathogenic 1:229567783-229567783 1:229432036-229432036
52 ACTA1 NM_001100.3(ACTA1): c.682G> C (p.Glu228Gln) single nucleotide variant Likely pathogenic 1:229567867-229567867 1:229432120-229432120
53 ACTA1 NM_001100.3(ACTA1): c.676G> C (p.Glu226Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs1057521118 1:229567873-229567873 1:229432126-229432126
54 ACTA1 NM_001100.3(ACTA1): c.478G> A (p.Gly160Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1064794652 1:229568155-229568155 1:229432408-229432408
55 ACTA1 NM_001100.3(ACTA1): c.963_968del (p.Leu322_Ala323del) deletion Uncertain significance rs1553255336 1:229567490-229567495 1:229431743-229431748
56 ACTA1 NM_001100.3(ACTA1): c.811A> G (p.Met271Val) single nucleotide variant Uncertain significance rs1553255361 1:229567647-229567647 1:229431900-229431900
57 ACTA1 NM_001100.3(ACTA1): c.453C> T (p.Thr151=) single nucleotide variant Uncertain significance rs76030344 1:229568304-229568304 1:229432557-229432557
58 ACTA1 NM_001100.3(ACTA1): c.389A> G (p.Asn130Ser) single nucleotide variant Uncertain significance rs766934634 1:229568368-229568368 1:229432621-229432621
59 ACTA1 NM_001100.3(ACTA1): c.80A> G (p.Asp27Gly) single nucleotide variant Uncertain significance rs1553255534 1:229568783-229568783 1:229433036-229433036
60 ACTA1 NM_001100.3(ACTA1): c.981G> C (p.Met327Ile) single nucleotide variant Uncertain significance rs1553255334 1:229567477-229567477 1:229431730-229431730
61 ACTA1 NM_001100.3(ACTA1): c.1109C> A (p.Ser370Tyr) single nucleotide variant Uncertain significance rs1553255290 1:229567271-229567271 1:229431524-229431524
62 ACTA1 NM_001100.3(ACTA1): c.898G> T (p.Val300Phe) single nucleotide variant Uncertain significance rs1553255349 1:229567560-229567560 1:229431813-229431813
63 ACTA1 NM_001100.3(ACTA1): c.425T> C (p.Leu142Pro) single nucleotide variant Uncertain significance rs1553255482 1:229568332-229568332 1:229432585-229432585
64 ACTA1 NM_001100.3(ACTA1): c.808+6C> A single nucleotide variant Uncertain significance rs200342114 1:229567735-229567735 1:229431988-229431988
65 ACTA1 NM_001100.3(ACTA1): c.1014A> C (p.Lys338Asn) single nucleotide variant Uncertain significance rs1553255306 1:229567366-229567366 1:229431619-229431619
66 ACTA1 NM_001100.3(ACTA1): c.606C> A (p.Phe202Leu) single nucleotide variant Uncertain significance rs1255258064 1:229568027-229568027 1:229432280-229432280
67 ACTA1 NM_001100.3(ACTA1): c.461_478del (p.Val154_Asp159del) deletion Uncertain significance rs1553255444 1:229568155-229568172 1:229432408-229432425
68 ACTA1 NM_001100.3(ACTA1): c.1001C> T (p.Pro334Leu) single nucleotide variant Uncertain significance rs1553255312 1:229567379-229567379 1:229431632-229431632
69 ACTA1 NM_001100.3(ACTA1): c.598T> A (p.Tyr200Asn) single nucleotide variant Uncertain significance rs1553255432 1:229568035-229568035 1:229432288-229432288
70 ACTA1 NM_001100.3(ACTA1): c.539T> C (p.Leu180Pro) single nucleotide variant Uncertain significance 1:229568094-229568094 1:229432347-229432347
71 ACTA1 NM_001100.3(ACTA1): c.82G> C (p.Ala28Pro) single nucleotide variant Uncertain significance 1:229568781-229568781 1:229433034-229433034
72 ACTA1 NM_001100.3(ACTA1): c.796C> T (p.Pro266Ser) single nucleotide variant Uncertain significance rs1553255405 1:229567753-229567753 1:229432006-229432006
73 ACTA1 NM_001100.3(ACTA1): c.1004C> T (p.Pro335Leu) single nucleotide variant Uncertain significance 1:229567376-229567376 1:229431629-229431629
74 ACTA1 NM_001100.3(ACTA1): c.897C> A (p.Asn299Lys) single nucleotide variant Uncertain significance 1:229567561-229567561 1:229431814-229431814
75 ACTA1 NM_001100.3(ACTA1): c.1031G> A (p.Gly344Asp) single nucleotide variant Uncertain significance 1:229567349-229567349 1:229431602-229431602
76 ACTA1 NM_001100.3(ACTA1): c.168G> A (p.Val56=) single nucleotide variant Uncertain significance 1:229568589-229568589 1:229432842-229432842
77 ACTA1 NM_001100.3(ACTA1): c.148G> T (p.Gly50Cys) single nucleotide variant Uncertain significance 1:229568609-229568609 1:229432862-229432862
78 ACTA1 NM_001100.3(ACTA1): c.1003C> G (p.Pro335Ala) single nucleotide variant Uncertain significance 1:229567377-229567377 1:229431630-229431630
79 ACTA1 NM_001100.3(ACTA1): c.965T> A (p.Leu322Gln) single nucleotide variant Uncertain significance 1:229567493-229567493 1:229431746-229431746
80 ACTA1 NM_001100.3(ACTA1): c.821C> A (p.Ala274Glu) single nucleotide variant Uncertain significance 1:229567637-229567637 1:229431890-229431890
81 ACTA1 NM_001100.3(ACTA1): c.713T> C (p.Leu238Pro) single nucleotide variant Uncertain significance 1:229567836-229567836 1:229432089-229432089
82 ACTA1 NM_001100.3(ACTA1): c.37G> A (p.Asp13Asn) single nucleotide variant Uncertain significance 1:229568826-229568826 1:229433079-229433079
83 ACTA1 NM_001100.3(ACTA1): c.283G> A (p.Glu95Lys) single nucleotide variant Uncertain significance 1:229568474-229568474 1:229432727-229432727
84 ACTA1 NM_001100.3(ACTA1): c.121C> G (p.Arg41Gly) single nucleotide variant Uncertain significance 1:229568742-229568742 1:229432995-229432995
85 ACTA1 NM_001100.3(ACTA1): c.685A> T (p.Met229Leu) single nucleotide variant Uncertain significance 1:229567864-229567864 1:229432117-229432117
86 ACTA1 NM_001100.3(ACTA1): c.659A> T (p.Tyr220Phe) single nucleotide variant Uncertain significance 1:229567890-229567890 1:229432143-229432143
87 ACTA1 NM_001100.3(ACTA1): c.617C> T (p.Ala206Val) single nucleotide variant Uncertain significance 1:229567932-229567932 1:229432185-229432185
88 ACTA1 NM_001100.3(ACTA1): c.132C> T (p.Gly44=) single nucleotide variant Likely benign rs146956806 1:229568625-229568625 1:229432878-229432878
89 ACTA1 NM_001100.3(ACTA1): c.130-9G> T single nucleotide variant Likely benign rs1553255511 1:229568636-229568636 1:229432889-229432889
90 ACTA1 NM_001100.3(ACTA1): c.645G> A (p.Lys215=) single nucleotide variant Likely benign rs1553255420 1:229567904-229567904 1:229432157-229432157
91 ACTA1 NM_001100.3(ACTA1): c.24C> A (p.Thr8=) single nucleotide variant Likely benign rs762659680 1:229568839-229568839 1:229433092-229433092
92 ACTA1 NM_001100.3(ACTA1): c.617-5C> T single nucleotide variant Benign/Likely benign rs199804338 1:229567937-229567937 1:229432190-229432190
93 ACTA1 NM_001100.3(ACTA1): c.453C> A (p.Thr151=) single nucleotide variant Benign/Likely benign rs76030344 1:229568304-229568304 1:229432557-229432557
94 ACTA1 NM_001100.3(ACTA1): c.996C> A (p.Ile332=) single nucleotide variant Benign rs74897770 1:229567384-229567384 1:229431637-229431637
95 ACTA1 NM_001100.3(ACTA1): c.1125A> G (p.Lys375=) single nucleotide variant Benign rs142311664 1:229567255-229567255 1:229431508-229431508
96 ACTA1 NM_001100.3(ACTA1): c.222G> T (p.Glu74Asp) single nucleotide variant no interpretation for the single variant rs267606626 1:229568535-229568535 1:229432788-229432788
97 ACTA1 NM_001100.3(ACTA1): c.223C> T (p.His75Tyr) single nucleotide variant no interpretation for the single variant rs267606627 1:229568534-229568534 1:229432787-229432787

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

74 (showing 77, show less)
# 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
51 ACTA1 p.Arg198Leu VAR_062455
52 ACTA1 p.Gly199Ser VAR_062456
53 ACTA1 p.Glu226Gly VAR_062457
54 ACTA1 p.Glu226Gln VAR_062458 rs105752111
55 ACTA1 p.Asn227Val VAR_062459
56 ACTA1 p.Met229Ile VAR_062460
57 ACTA1 p.Met229Thr VAR_062461
58 ACTA1 p.Met229Val VAR_062462 rs794727714
59 ACTA1 p.Glu243Lys VAR_062463 rs367543051
60 ACTA1 p.Gln248Lys VAR_062464
61 ACTA1 p.Gln248Arg VAR_062465
62 ACTA1 p.Gly253Asp VAR_062466
63 ACTA1 p.Arg258Leu VAR_062467
64 ACTA1 p.Gly270Asp VAR_062468
65 ACTA1 p.Gly270Arg VAR_062469 rs121909525
66 ACTA1 p.Ala274Glu VAR_062470
67 ACTA1 p.Tyr281His VAR_062471
68 ACTA1 p.Met285Lys VAR_062472
69 ACTA1 p.Glu336Ala VAR_062473 rs121909528
70 ACTA1 p.Lys338Glu VAR_062474
71 ACTA1 p.Lys338Ile VAR_062475
72 ACTA1 p.Ser350Leu VAR_062476
73 ACTA1 p.Arg374Ser VAR_062477
74 ACTA1 p.Lys375Glu VAR_062478
75 ACTA1 p.Lys375Gln VAR_062479
76 ACTA1 p.Lys328Asn VAR_076427 rs398122936
77 ACTA1 p.Trp358Cys VAR_076428 rs587777354

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:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 8.92 TENT4A POLM POLE ELL

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

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 DNA biosynthetic process GO:0071897 8.62 POLM POLE

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

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

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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