NEM1
MCID: NML002
MIFTS: 49

Nemaline Myopathy 1 (NEM1)

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

Aliases & Classifications for Nemaline Myopathy 1

MalaCards integrated aliases for Nemaline Myopathy 1:

Name: Nemaline Myopathy 1 57 12 72 29 6 15 70
Cap Myopathy 1 57 72 29 6 70
Nemaline Myopathy 1, Autosomal Dominant or Recessive 57 12 29
Nem1 57 12 72
Nemaline Myopathy 1 Autosomal Dominant or Recessive 72
Myopathy, Nemaline, Type 1 39
Nemaline Myopathy, Type 1 73
Cap Myopathy Tpm3-Related 72
Cap Myopathy 70
Cap Disease 72
Capm1 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )
onset in childhood (range infancy to 10 years)
variable clinical severity
autosomal recessive disorder tends to be more severe


HPO:

31
nemaline myopathy 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course juvenile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110926
OMIM® 57 609284
OMIM Phenotypic Series 57 PS161800
MeSH 44 D017696
UMLS 70 C1836448 C3710589 C3714994

Summaries for Nemaline Myopathy 1

UniProtKB/Swiss-Prot : 72 Cap myopathy 1: A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and slowly progressive muscle weakness. Respiratory problems are common.
Nemaline myopathy 1: A form of nemaline myopathy with autosomal dominant or recessive inheritance. Nemaline myopathies are disorders characterized by muscle weakness of varying onset and severity, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Autosomal dominant NEM1 is characterized by a moderate phenotype with onset between birth and early second decade of life. Weakness is diffuse and symmetric with slow progression often with need for a wheelchair in adulthood. The autosomal recessive form has onset at birth with moderate to severe hypotonia and diffuse weakness. In the most severe cases, death can occur before 2 years. Less severe cases have delayed major motor milestones, and these patients may walk, but often need a wheelchair before 10 years.

MalaCards based summary : Nemaline Myopathy 1, also known as cap myopathy 1, is related to childhood-onset nemaline myopathy and cap myopathy. An important gene associated with Nemaline Myopathy 1 is TPM3 (Tropomyosin 3), and among its related pathways/superpathways are Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA. The drugs Anti-Bacterial Agents and Antibiotics, Antitubercular have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are scoliosis and dysphagia

Disease Ontology : 12 A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21.

OMIM® : 57 Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013). For a discussion of genetic heterogeneity of nemaline myopathy, see 161800. (609284) (Updated 20-May-2021)

Wikipedia : 73 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary... more...

Related Diseases for Nemaline Myopathy 1

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 childhood-onset nemaline myopathy 29.9 TPM3 KBTBD13
2 cap myopathy 11.3
3 nemaline myopathy 4 11.1
4 batten-turner congenital myopathy 10.1
5 peroneal neuropathy 10.1 LPIN3 LPIN2 LPIN1
6 congenital structural myopathy 10.0 TPM3 KBTBD13 CTDNEP1
7 lipodystrophy, congenital generalized, type 3 10.0 LPIN1 BSCL2
8 lipodystrophy, congenital generalized, type 1 10.0 LPIN1 BSCL2
9 complete generalized lipodystrophy 10.0 LPIN1 BSCL2
10 myopathy, congenital, with fiber-type disproportion 10.0
11 congenital fiber-type disproportion 10.0
12 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0 LPIN1 BSCL2
13 nemaline myopathy 9.9
14 myopathy 9.9
15 premature aging 9.9
16 distal arthrogryposis 9.9
17 intermediate congenital nemaline myopathy 9.9
18 congenital amyoplasia 9.9
19 congenital generalized lipodystrophy 9.8 LPIN3 LPIN1 CNEP1R1 BSCL2
20 arthrogryposis, distal, type 1a 9.7
21 hypotonia 9.7
22 cardiomyopathy, dilated, 1p 9.6 PMM1 NUP85

Graphical network of the top 20 diseases related to Nemaline Myopathy 1:



Diseases related to Nemaline Myopathy 1

Symptoms & Phenotypes for Nemaline Myopathy 1

Human phenotypes related to Nemaline Myopathy 1:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 dysphagia 31 HP:0002015
3 high palate 31 HP:0000218
4 respiratory insufficiency 31 HP:0002093
5 flexion contracture 31 HP:0001371
6 pectus excavatum 31 HP:0000767
7 emg: myopathic abnormalities 31 HP:0003458
8 motor delay 31 HP:0001270
9 nemaline bodies 31 HP:0003798
10 narrow face 31 HP:0000275
11 long face 31 HP:0000276
12 pes cavus 31 HP:0001761
13 distal lower limb muscle weakness 31 HP:0009053
14 generalized muscle weakness 31 HP:0003324
15 proximal muscle weakness 31 HP:0003701
16 shoulder girdle muscle atrophy 31 HP:0003724
17 distal lower limb amyotrophy 31 HP:0008944
18 neck muscle weakness 31 HP:0000467
19 facial diplegia 31 HP:0001349

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis

Respiratory:
respiratory insufficiency
restricted vital capacity

Head And Neck Face:
narrow face
long face
facial diplegia

Head And Neck Neck:
neck muscle weakness

Head And Neck Mouth:
high-arched palate

Neurologic Central Nervous System:
delayed motor development due to muscle weakness

Abdomen Gastrointestinal:
dysphagia

Chest External Features:
pectus excavatum

Skeletal Feet:
pes cavus

Muscle Soft Tissue:
facial diplegia
muscle weakness, proximal
myopathic changes seen on emg
muscle weakness, lower limb, distal
muscle atrophy, lower limb, distal
more
Skeletal:
joint contractures

Clinical features from OMIM®:

609284 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Nemaline Myopathy 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.5 ATP6V0A1 BSCL2 CTDSPL2 LPIN1 LPIN2 LPIN3
2 mortality/aging MP:0010768 9.47 ATP6V0A1 BSCL2 CHMP3 CNEP1R1 CTDNEP1 CTDSPL2

Drugs & Therapeutics for Nemaline Myopathy 1

Drugs for Nemaline Myopathy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Bacterial Agents
2 Antibiotics, Antitubercular

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluating the Impact of a New Model of Care Designed to Improve Evidence-based Management of Community-acquired Pneumonia Completed NCT02835040

Search NIH Clinical Center for Nemaline Myopathy 1

Genetic Tests for Nemaline Myopathy 1

Genetic tests related to Nemaline Myopathy 1:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 1 29 TPM3
2 Cap Myopathy 1 29
3 Nemaline Myopathy 1, Autosomal Dominant or Recessive 29

Anatomical Context for Nemaline Myopathy 1

MalaCards organs/tissues related to Nemaline Myopathy 1:

40
Skeletal Muscle

Publications for Nemaline Myopathy 1

Articles related to Nemaline Myopathy 1:

(show all 30)
# Title Authors PMID Year
1
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. 6 57
26418456 2015
2
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. 57 6
24095155 2013
3
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. 6 57
20554445 2010
4
A TPM3 mutation causing cap myopathy. 57 6
19553118 2009
5
TPM3 mutation in one of the original cases of cap disease. 6 57
19487656 2009
6
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. 6 57
18382475 2008
7
Mutations in TPM3 are a common cause of congenital fiber type disproportion. 57 6
18300303 2008
8
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. 6 57
17376686 2007
9
"Cap disease"--a failure in the correct muscle fibre formation. 6 57
12163190 2002
10
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. 6 57
12196661 2002
11
Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. 6 57
10619715 1999
12
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. 6 57
7704029 1995
13
[Congenital myopathy with selective hypotrophy of type I fibers]. 57 6
1221488 1975
14
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 6
27363342 2017
15
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
16
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. 6
26307083 2015
17
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 6
24692096 2014
18
Congenital fiber type disproportion myopathy caused by LMNA mutations. 6
24642510 2014
19
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. 6
24507666 2014
20
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients. 6
23886664 2013
21
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. 6
22749829 2012
22
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms. 6
22798622 2012
23
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. 6
21357678 2011
24
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. 6
19953533 2010
25
An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. 6
15562513 2005
26
De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy. 6
12467750 2002
27
A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. 6
10587521 1999
28
Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. 57
1347195 1992
29
Respiratory failure in nemaline myopathy. 61
9258972 1997
30
Focal cytochrome c oxidase deficiency in various neuromuscular diseases. 61
2545831 1989

Variations for Nemaline Myopathy 1

ClinVar genetic disease variations for Nemaline Myopathy 1:

6 (show top 50) (show all 174)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TPM3 NM_152263.4(TPM3):c.26T>G (p.Met9Arg) SNV Pathogenic 12446 rs80358247 GRCh37: 1:154164469-154164469
GRCh38: 1:154191993-154191993
2 TPM3 NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) SNV Pathogenic 12447 rs199474720 GRCh37: 1:154140414-154140414
GRCh38: 1:154167938-154167938
3 TPM3 NM_152263.4(TPM3):c.855-1G>A SNV Pathogenic 12448 rs113605263 GRCh37: 1:154140417-154140417
GRCh38: 1:154167941-154167941
4 TPM3 NM_152263.4(TPM3):c.503G>A (p.Arg168His) SNV Pathogenic 12450 rs121964852 GRCh37: 1:154145447-154145447
GRCh38: 1:154172971-154172971
5 TPM3 NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?) Deletion Pathogenic 12451 rs199474719 GRCh37: 1:154140416-154140416
GRCh38: 1:154167940-154167940
6 TPM3 NM_152263.4(TPM3):c.503G>A (p.Arg168His) SNV Pathogenic 12450 rs121964852 GRCh37: 1:154145447-154145447
GRCh38: 1:154172971-154172971
7 TPM3 NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) SNV Pathogenic 12454 rs121964854 GRCh37: 1:154145448-154145448
GRCh38: 1:154172972-154172972
8 TPM3 NM_152263.4(TPM3):c.670_672GAA[1] (p.Glu225del) Microsatellite Pathogenic 235143 rs876661406 GRCh37: 1:154143155-154143157
GRCh38: 1:154170679-154170681
9 TPM3 NM_152263.4(TPM3):c.654_656AGA[1] (p.Glu219del) Microsatellite Pathogenic 235144 rs876661407 GRCh37: 1:154143171-154143173
GRCh38: 1:154170695-154170697
10 TPM3 NM_152263.4(TPM3):c.758C>A (p.Thr253Lys) SNV Pathogenic 462142 rs1553248515 GRCh37: 1:154142893-154142893
GRCh38: 1:154170417-154170417
11 TPM3 NM_152263.4(TPM3):c.503G>A (p.Arg168His) SNV Pathogenic 12450 rs121964852 GRCh37: 1:154145447-154145447
GRCh38: 1:154172971-154172971
12 TPM3 NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) SNV Pathogenic 12454 rs121964854 GRCh37: 1:154145448-154145448
GRCh38: 1:154172972-154172972
13 TPM3 NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) SNV Pathogenic 12449 rs80358248 GRCh37: 1:154164401-154164401
GRCh38: 1:154191925-154191925
14 TPM3 NM_152263.4(TPM3):c.298C>G (p.Leu100Val) SNV Likely pathogenic 531180 rs121964853 GRCh37: 1:154148670-154148670
GRCh38: 1:154176194-154176194
15 TPM3 NM_152263.4(TPM3):c.43G>C (p.Asp15His) SNV Likely pathogenic 437430 rs1553251644 GRCh37: 1:154164452-154164452
GRCh38: 1:154191976-154191976
16 TPM3 NM_152263.4(TPM3):c.271C>T (p.Arg91Cys) SNV Likely pathogenic 652762 rs1571418855 GRCh37: 1:154148697-154148697
GRCh38: 1:154176221-154176221
17 TPM3 NM_152263.4(TPM3):c.43G>A (p.Asp15Asn) SNV Likely pathogenic 801549 rs1553251644 GRCh37: 1:154164452-154164452
GRCh38: 1:154191976-154191976
18 TPM3 NM_152263.4(TPM3):c.7G>C (p.Glu3Gln) SNV Likely pathogenic 801550 rs1571456678 GRCh37: 1:154164488-154164488
GRCh38: 1:154192012-154192012
19 TPM3 NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) SNV Likely pathogenic 12453 rs121964854 GRCh37: 1:154145448-154145448
GRCh38: 1:154172972-154172972
20 TPM3 NM_152263.4(TPM3):c.377+863_775+422del Deletion Likely pathogenic 974884 GRCh37: 1:154142454-154147728
GRCh38: 1:154169978-154175252
21 TPM3 NM_152263.4(TPM3):c.480T>A (p.Asp160Glu) SNV Uncertain significance 975987 GRCh37: 1:154145575-154145575
GRCh38: 1:154173099-154173099
22 TPM3 NM_152263.4(TPM3):c.709G>A (p.Glu237Lys) SNV Uncertain significance 1014108 GRCh37: 1:154142942-154142942
GRCh38: 1:154170466-154170466
23 TPM3 NM_152263.4(TPM3):c.706-2dup Duplication Uncertain significance 426365 rs1085307588 GRCh37: 1:154142946-154142947
GRCh38: 1:154170470-154170471
24 TPM3 NC_000001.10:g.(?_154141771_154148734del Deletion Uncertain significance 1025479 GRCh37:
GRCh38:
25 TPM3 NM_152263.4(TPM3):c.854+1G>A SNV Uncertain significance 1027780 GRCh37: 1:154141780-154141780
GRCh38: 1:154169304-154169304
26 TPM3 NM_152263.4(TPM3):c.706-6C>T SNV Uncertain significance 1035760 GRCh37: 1:154142951-154142951
GRCh38: 1:154170475-154170475
27 TPM3 NM_152263.4(TPM3):c.853A>G (p.Ile285Val) SNV Uncertain significance 1045149 GRCh37: 1:154141782-154141782
GRCh38: 1:154169306-154169306
28 TPM3 NM_152263.4(TPM3):c.212A>T (p.Lys71Met) SNV Uncertain significance 1054129 GRCh37: 1:154163693-154163693
GRCh38: 1:154191217-154191217
29 TPM3 NM_152263.4(TPM3):c.832G>A (p.Ala278Thr) SNV Uncertain significance 1064391 GRCh37: 1:154141803-154141803
GRCh38: 1:154169327-154169327
30 TPM3 NC_000001.11:g.(?_154191166)_(154192038_?)del Deletion Uncertain significance 583697 GRCh37: 1:154163642-154164514
GRCh38: 1:154191166-154192038
31 TPM3 NM_152263.4(TPM3):c.*656C>T SNV Uncertain significance 876992 GRCh37: 1:154139757-154139757
GRCh38: 1:154167281-154167281
32 TPM3 NM_152263.4(TPM3):c.*499C>A SNV Uncertain significance 876993 GRCh37: 1:154139914-154139914
GRCh38: 1:154167438-154167438
33 TPM3 NM_152263.4(TPM3):c.*32C>T SNV Uncertain significance 877038 GRCh37: 1:154140381-154140381
GRCh38: 1:154167905-154167905
34 TPM3 NM_152263.4(TPM3):c.816C>G (p.Ser272Arg) SNV Uncertain significance 947402 GRCh37: 1:154141819-154141819
GRCh38: 1:154169343-154169343
35 TPM3 NM_152263.4(TPM3):c.85G>A (p.Glu29Lys) SNV Uncertain significance 947576 GRCh37: 1:154164410-154164410
GRCh38: 1:154191934-154191934
36 TPM3 NM_152263.4(TPM3):c.124G>A (p.Asp42Asn) SNV Uncertain significance 950167 GRCh37: 1:154163781-154163781
GRCh38: 1:154191305-154191305
37 TPM3 NM_152263.4(TPM3):c.829C>A (p.His277Asn) SNV Uncertain significance 952209 GRCh37: 1:154141806-154141806
GRCh38: 1:154169330-154169330
38 TPM3 NM_152263.4(TPM3):c.11C>T (p.Ala4Val) SNV Uncertain significance 42113 rs199474711 GRCh37: 1:154164484-154164484
GRCh38: 1:154192008-154192008
39 TPM3 NM_152263.4(TPM3):c.835C>G (p.Leu279Val) SNV Uncertain significance 967726 GRCh37: 1:154141800-154141800
GRCh38: 1:154169324-154169324
40 TPM3 NM_152263.4(TPM3):c.706-3C>T SNV Uncertain significance 969686 GRCh37: 1:154142948-154142948
GRCh38: 1:154170472-154170472
41 TPM3 NM_152263.4(TPM3):c.*254G>A SNV Uncertain significance 876080 GRCh37: 1:154140159-154140159
GRCh38: 1:154167683-154167683
42 TPM3 NM_152263.4(TPM3):c.*157C>T SNV Uncertain significance 876081 GRCh37: 1:154140256-154140256
GRCh38: 1:154167780-154167780
43 TPM3 NM_152263.4(TPM3):c.*88G>T SNV Uncertain significance 876082 GRCh37: 1:154140325-154140325
GRCh38: 1:154167849-154167849
44 TPM3 NM_152263.4(TPM3):c.*5901G>C SNV Uncertain significance 876591 GRCh37: 1:154134512-154134512
GRCh38: 1:154162036-154162036
45 TPM3 NM_152263.4(TPM3):c.*5870A>T SNV Uncertain significance 876592 GRCh37: 1:154134543-154134543
GRCh38: 1:154162067-154162067
46 TPM3 NM_152263.4(TPM3):c.*5865A>G SNV Uncertain significance 876593 GRCh37: 1:154134548-154134548
GRCh38: 1:154162072-154162072
47 TPM3 NM_152263.4(TPM3):c.*5437G>A SNV Uncertain significance 876643 GRCh37: 1:154134976-154134976
GRCh38: 1:154162500-154162500
48 TPM3 NM_152263.4(TPM3):c.*5406A>G SNV Uncertain significance 876644 GRCh37: 1:154135007-154135007
GRCh38: 1:154162531-154162531
49 TPM3 NM_152263.4(TPM3):c.*4930G>A SNV Uncertain significance 876686 GRCh37: 1:154135483-154135483
GRCh38: 1:154163007-154163007
50 TPM3 NM_152263.4(TPM3):c.*4924C>T SNV Uncertain significance 876687 GRCh37: 1:154135489-154135489
GRCh38: 1:154163013-154163013

UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 1:

72
# Symbol AA change Variation ID SNP ID
1 TPM3 p.Met9Arg VAR_013460 rs80358247
2 TPM3 p.Arg168Cys VAR_070067 rs121964854
3 TPM3 p.Arg168His VAR_070069 rs121964852
4 TPM3 p.Ser88Phe VAR_071500
5 TPM3 p.Leu149Ile VAR_071504
6 TPM3 p.Glu151Ala VAR_071505
7 TPM3 p.Arg245Ile VAR_071508 rs797046047

Expression for Nemaline Myopathy 1

Search GEO for disease gene expression data for Nemaline Myopathy 1.

Pathways for Nemaline Myopathy 1

Pathways related to Nemaline Myopathy 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 SEH1L NUP85 NUP107 LPIN3 LPIN2 LPIN1
2
Show member pathways
12.58 SEH1L NUP85 NUP107 LPIN3 LPIN2 LPIN1
3
Show member pathways
12.2 SEH1L LPIN3 LPIN2 LPIN1
4
Show member pathways
11.85 SEH1L NUP85 NUP107 LPIN3 LPIN2 LPIN1
5 11.68 LPIN3 LPIN2 LPIN1 BSCL2
6
Show member pathways
11.58 SEH1L NUP85 NUP107
7 11.33 LPIN3 LPIN2 LPIN1
8
Show member pathways
10.82 LPIN2 LPIN1
9 10.78 LPIN3 LPIN2 LPIN1

GO Terms for Nemaline Myopathy 1

Cellular components related to Nemaline Myopathy 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.21 TPM3 SEH1L SEC63 PMM1 PIKFYVE NUP85
2 endoplasmic reticulum GO:0005783 10.02 SEC63 RTN1 LPIN2 LPIN1 KDELR1 CTDNEP1
3 endoplasmic reticulum membrane GO:0005789 9.76 SEC63 RTN1 LPIN3 LPIN2 LPIN1 KDELR1
4 chromosome, centromeric region GO:0000775 9.69 SEH1L NUP85 NUP107
5 kinetochore GO:0000776 9.67 SEH1L NUP85 NUP107
6 nuclear membrane GO:0031965 9.65 NUP85 NUP107 LPIN1 CTDNEP1 CNEP1R1
7 condensed chromosome kinetochore GO:0000777 9.63 SEH1L NUP85 NUP107
8 nuclear pore GO:0005643 9.61 SEH1L NUP85 NUP107
9 host cell GO:0043657 9.58 SEH1L NUP85 NUP107
10 Nem1-Spo7 phosphatase complex GO:0071595 9.32 CTDNEP1 CNEP1R1
11 nuclear pore outer ring GO:0031080 9.13 SEH1L NUP85 NUP107
12 nuclear envelope GO:0005635 9.1 SEH1L NUP85 NUP107 LPIN1 CTDNEP1 CNEP1R1

Biological processes related to Nemaline Myopathy 1 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.97 SEH1L SEC63 NUP85 NUP107 KDELR1 CHMP3
2 lipid metabolic process GO:0006629 9.93 LPIN3 LPIN2 LPIN1 ISYNA1 CNEP1R1 BSCL2
3 dephosphorylation GO:0016311 9.83 LPIN3 LPIN2 LPIN1 CTDNEP1
4 viral transcription GO:0019083 9.78 SEH1L NUP85 NUP107
5 mRNA transport GO:0051028 9.77 SEH1L NUP85 NUP107
6 cellular response to insulin stimulus GO:0032869 9.77 LPIN3 LPIN2 LPIN1
7 mRNA export from nucleus GO:0006406 9.76 SEH1L NUP85 NUP107
8 regulation of gene silencing by miRNA GO:0060964 9.73 SEH1L NUP85 NUP107
9 regulation of cellular response to heat GO:1900034 9.72 SEH1L NUP85 NUP107
10 protein sumoylation GO:0016925 9.71 SEH1L NUP85 NUP107
11 intracellular transport of virus GO:0075733 9.69 SEH1L NUP85 NUP107
12 regulation of glycolytic process GO:0006110 9.65 SEH1L NUP85 NUP107
13 phosphatidylcholine biosynthetic process GO:0006656 9.61 LPIN3 LPIN2 LPIN1
14 positive regulation of triglyceride biosynthetic process GO:0010867 9.58 CTDNEP1 CNEP1R1
15 tRNA export from nucleus GO:0006409 9.58 SEH1L NUP85 NUP107
16 nephron development GO:0072006 9.57 NUP85 NUP107
17 protein localization to nucleus GO:0034504 9.54 PIKFYVE CTDNEP1 CNEP1R1
18 cellular lipid metabolic process GO:0044255 9.5 LPIN3 LPIN2 LPIN1
19 triglyceride biosynthetic process GO:0019432 9.43 LPIN3 LPIN2 LPIN1
20 fatty acid catabolic process GO:0009062 9.33 LPIN3 LPIN2 LPIN1
21 phosphatidylethanolamine biosynthetic process GO:0006646 9.13 LPIN3 LPIN2 LPIN1
22 mitotic nuclear envelope disassembly GO:0007077 8.8 LPIN1 CTDNEP1 CNEP1R1

Molecular functions related to Nemaline Myopathy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of nuclear pore GO:0017056 8.96 NUP85 NUP107
2 phosphatidate phosphatase activity GO:0008195 8.8 LPIN3 LPIN2 LPIN1

Sources for Nemaline Myopathy 1

3 CDC
7 CNVD
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11 DGIdb
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