MCID: CHL107
MIFTS: 41

Childhood-Onset Nemaline Myopathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Childhood-Onset Nemaline Myopathy

MalaCards integrated aliases for Childhood-Onset Nemaline Myopathy:

Name: Childhood-Onset Nemaline Myopathy 20 58
Mild Nemaline Myopathy 20 58
Nemaline Myopathy, Childhood Onset 70

Characteristics:

Orphanet epidemiological data:

58
childhood-onset nemaline myopathy
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Childhood-Onset Nemaline Myopathy

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171439 Definition Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction. Epidemiology The annual incidence of NM has been estimated at 1/50,000 live births. Clinical description Childhood onset NM might represent 10-15% of total cases. Onset is around 10 years of age, with initial presentation of symmetric weakness of ankle dorsiflexion and foot drop, or a general slowness of muscle contraction. All movements at the ankle and more proximal limb muscles may be disturbed. Weakness is slowly progressive. Facial, respiratory and cardiac muscles are generally normal, but patients are unable to jump or run because of muscle weakness or slowness. Etiology This form of NM is caused by mutations in the ACTA1 (1q42.13), NEB (2q22), TPM2 (9p13.3) or TPM3 (1q21.2) genes, and its transmission follows an autosomal dominant pattern.

MalaCards based summary : Childhood-Onset Nemaline Myopathy, also known as mild nemaline myopathy, is related to nemaline myopathy and nemaline myopathy 2. An important gene associated with Childhood-Onset Nemaline Myopathy is TPM3 (Tropomyosin 3), and among its related pathways/superpathways are Cardiac conduction and Cardiac muscle contraction. Affiliated tissues include skeletal muscle, and related phenotypes are emg: myopathic abnormalities and nemaline bodies

Related Diseases for Childhood-Onset Nemaline Myopathy

Diseases related to Childhood-Onset Nemaline Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 29.2 TPM3 TPM2 NEB KLHL41 ACTA1
2 nemaline myopathy 2 29.1 NEB MYPN KLHL41 KBTBD13
3 batten-turner congenital myopathy 28.5 TPM3 TPM2 NEB KLHL41 KBTBD13 ACTA1
4 myopathy 28.4 TPM3 TPM2 NEB MYPN KLHL41 KBTBD13
5 nemaline myopathy 1 10.2 TPM3 KBTBD13
6 hypotonia 10.1
7 crab allergy 10.1 TPM3 TPM2
8 crustacean allergy 10.1 TPM3 TPM2
9 snail allergy 10.1 TPM3 TPM2
10 melon allergy 10.1 TPM3 TPM2
11 shrimp allergy 10.0 TPM3 TPM2
12 nemaline myopathy 9 10.0 KLHL41 KBTBD13
13 myopathy, congenital, with fiber-type disproportion 10.0 TPM3 ACTA1
14 myopathy, centronuclear, 2 9.9 TPM3 TPM2
15 myopathy, centronuclear, 1 9.9 TPM3 TPM2
16 foot drop 9.9 NEB ACTA1
17 hyaline body myopathy 9.8 NEB ACTA1
18 arthrogryposis, distal, type 1a 9.8 TPM3 TPM2
19 myopathy, spheroid body 9.7 NEB MYPN
20 nemaline myopathy 11, autosomal recessive 9.7 MYPN KLHL41 KBTBD13
21 myopathy, myofibrillar, 4 9.7 NEB MYPN
22 nemaline myopathy 10 9.7 MYPN KLHL41 KBTBD13
23 myopathy, myofibrillar, 1 9.7 NEB MYPN
24 myopathy, myofibrillar, 9, with early respiratory failure 9.7 NEB MYPN
25 congenital myasthenic syndrome 9.7 TPM2 KBTBD13 ACTA1
26 tibial muscular dystrophy 9.7 NEB MYPN
27 endocardial fibroelastosis 9.7 NEB MYPN
28 centronuclear myopathy 9.6 NEB KBTBD13 ACTA1
29 restrictive cardiomyopathy 9.6 MYPN ACTA1
30 severe congenital nemaline myopathy 9.6 NEB KLHL41 ACTA1
31 multiple pterygium syndrome, escobar variant 9.6 TPM2 NEB KLHL41
32 myofibrillar myopathy 9.5 NEB MYPN ACTA1
33 cap myopathy 9.5 TPM3 TPM2 MYPN ACTA1
34 hypertrophic cardiomyopathy 9.4 TPM3 TPM2 MYPN ACTA1
35 intermediate congenital nemaline myopathy 9.4 TPM3 NEB KLHL41 ACTA1
36 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.4 TPM3 TPM2 NEB ACTA1
37 distal arthrogryposis 9.4 TPM3 TPM2 NEB ACTA1
38 nemaline myopathy 3 9.4 NEB KLHL41 KBTBD13 ACTA1
39 dilated cardiomyopathy 9.4 TPM3 TPM2 MYPN ACTA1
40 typical congenital nemaline myopathy 9.3 TPM2 NEB KLHL41 ACTA1
41 congenital fiber-type disproportion 8.9 TPM3 TPM2 NEB KLHL41 KBTBD13 ACTA1
42 congenital structural myopathy 8.6 TPM3 TPM2 NEB MYPN KLHL41 KBTBD13

Graphical network of the top 20 diseases related to Childhood-Onset Nemaline Myopathy:



Diseases related to Childhood-Onset Nemaline Myopathy

Symptoms & Phenotypes for Childhood-Onset Nemaline Myopathy

Human phenotypes related to Childhood-Onset Nemaline Myopathy:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0003458
2 nemaline bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003798
3 spinal rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0003306
4 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
5 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
6 type 1 muscle fiber predominance 58 31 frequent (33%) Frequent (79-30%) HP:0003803
7 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
8 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
9 limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003690
10 increased muscle lipid content 58 31 frequent (33%) Frequent (79-30%) HP:0009058
11 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
12 generalized limb muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009055
13 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
14 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
15 exercise intolerance 58 31 frequent (33%) Frequent (79-30%) HP:0003546
16 neuromuscular dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002068
17 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
18 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
19 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
20 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
21 waddling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002515
22 scapular winging 58 31 occasional (7.5%) Occasional (29-5%) HP:0003691
23 respiratory insufficiency due to muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002747
24 bulbar signs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002483
25 fetal akinesia sequence 58 31 occasional (7.5%) Occasional (29-5%) HP:0001989
26 slender build 58 31 occasional (7.5%) Occasional (29-5%) HP:0001533
27 narrow face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000275
28 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
29 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
30 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
31 narrow chest 58 31 occasional (7.5%) Occasional (29-5%) HP:0000774
32 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
33 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
34 reduced vital capacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002792
35 mildly elevated creatine kinase 58 31 occasional (7.5%) Occasional (29-5%) HP:0008180
36 fatigable weakness of bulbar muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030192
37 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
38 neck muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000467
39 breech presentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001623
40 facial diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001349
41 ptosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000508
42 polyhydramnios 58 31 very rare (1%) Very rare (<4-1%) HP:0001561
43 arthrogryposis multiplex congenita 58 31 very rare (1%) Very rare (<4-1%) HP:0002804
44 flexion contracture 58 Occasional (29-5%)
45 myopathy 58 Very frequent (99-80%)
46 poor fine motor coordination 58 Excluded (0%)

MGI Mouse Phenotypes related to Childhood-Onset Nemaline Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 ACTA1 KBTBD13 KLHL41 MYPN NEB TPM3

Drugs & Therapeutics for Childhood-Onset Nemaline Myopathy

Search Clinical Trials , NIH Clinical Center for Childhood-Onset Nemaline Myopathy

Genetic Tests for Childhood-Onset Nemaline Myopathy

Anatomical Context for Childhood-Onset Nemaline Myopathy

MalaCards organs/tissues related to Childhood-Onset Nemaline Myopathy:

40
Skeletal Muscle

Publications for Childhood-Onset Nemaline Myopathy

Articles related to Childhood-Onset Nemaline Myopathy:

(show all 37)
# Title Authors PMID Year
1
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 6
27363342 2017
2
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
3
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. 6
26418456 2015
4
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. 6
26307083 2015
5
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 6
24692096 2014
6
Congenital fiber type disproportion myopathy caused by LMNA mutations. 6
24642510 2014
7
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. 6
24507666 2014
8
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA. 6
24525055 2014
9
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients. 6
23886664 2013
10
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. 6
24095155 2013
11
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. 6
22749829 2012
12
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms. 6
22798622 2012
13
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. 6
21357678 2011
14
Nemaline myopathy type 6: clinical and myopathological features. 6
21104864 2010
15
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. 6
21109227 2010
16
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. 6
20554445 2010
17
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. 6
19953533 2010
18
A TPM3 mutation causing cap myopathy. 6
19553118 2009
19
TPM3 mutation in one of the original cases of cap disease. 6
19487656 2009
20
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. 6
18382475 2008
21
Mutations in TPM3 are a common cause of congenital fiber type disproportion. 6
18300303 2008
22
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. 6
17376686 2007
23
An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. 6
15562513 2005
24
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. 6
12805120 2003
25
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
26
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. 6
12196661 2002
27
Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. 6
10619715 1999
28
A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. 6
10587521 1999
29
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. 6
7704029 1995
30
[Congenital myopathy with selective hypotrophy of type I fibers]. 6
1221488 1975
31
A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review. 61
31696431 2020
32
[Clinical, pathological and genetic studies of two cases of childhood-onset nemaline myopathy]. 61
30369353 2018
33
Nemaline myopathy with dilated cardiomyopathy in childhood. 61
23650303 2013
34
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. 61
23378224 2013
35
Clinical and pathological features of childhood-onset nemaline myopathy: a report of four cases. 61
22899938 2012
36
Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy. 61
14733965 2004
37
[Congenital mild nemaline myopathy]. 61
11555969 2001

Variations for Childhood-Onset Nemaline Myopathy

ClinVar genetic disease variations for Childhood-Onset Nemaline Myopathy:

6 (show top 50) (show all 399)
# 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 KBTBD13 NM_001101362.2(KBTBD13):c.1170G>C (p.Lys390Asn) SNV Pathogenic 31061 rs1364598710 GRCh37: 15:65370323-65370323
GRCh38: 15:65077985-65077985
7 KBTBD13 NM_001101362.2(KBTBD13):c.1222C>T (p.Arg408Cys) SNV Pathogenic 31062 rs387907090 GRCh37: 15:65370375-65370375
GRCh38: 15:65078037-65078037
8 KBTBD13 NM_001101362.2(KBTBD13):c.742C>A (p.Arg248Ser) SNV Pathogenic 31063 rs200549195 GRCh37: 15:65369895-65369895
GRCh38: 15:65077557-65077557
9 TPM3 NM_152263.4(TPM3):c.670_672GAA[1] (p.Glu225del) Microsatellite Pathogenic 235143 rs876661406 GRCh37: 1:154143155-154143157
GRCh38: 1:154170679-154170681
10 TPM3 NM_152263.4(TPM3):c.654_656AGA[1] (p.Glu219del) Microsatellite Pathogenic 235144 rs876661407 GRCh37: 1:154143171-154143173
GRCh38: 1:154170695-154170697
11 TPM3 NM_152263.4(TPM3):c.758C>A (p.Thr253Lys) SNV Pathogenic 462142 rs1553248515 GRCh37: 1:154142893-154142893
GRCh38: 1:154170417-154170417
12 TPM3 NM_152263.4(TPM3):c.503G>A (p.Arg168His) SNV Pathogenic 12450 rs121964852 GRCh37: 1:154145447-154145447
GRCh38: 1:154172971-154172971
13 TPM3 NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) SNV Pathogenic 12454 rs121964854 GRCh37: 1:154145448-154145448
GRCh38: 1:154172972-154172972
14 KBTBD13 NM_001101362.2(KBTBD13):c.244G>A (p.Val82Met) SNV Pathogenic 435545 rs1303411209 GRCh37: 15:65369397-65369397
GRCh38: 15:65077059-65077059
15 TPM3 NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) SNV Pathogenic 12449 rs80358248 GRCh37: 1:154164401-154164401
GRCh38: 1:154191925-154191925
16 TPM3 NM_152263.4(TPM3):c.377+863_775+422del Deletion Likely pathogenic 974884 GRCh37: 1:154142454-154147728
GRCh38: 1:154169978-154175252
17 overlap with 42 genes Deletion Likely pathogenic 560063 GRCh37: 15:63414894-66439797
GRCh38:
18 TPM3 NM_152263.4(TPM3):c.298C>G (p.Leu100Val) SNV Likely pathogenic 531180 rs121964853 GRCh37: 1:154148670-154148670
GRCh38: 1:154176194-154176194
19 TPM3 NM_152263.4(TPM3):c.43G>C (p.Asp15His) SNV Likely pathogenic 437430 rs1553251644 GRCh37: 1:154164452-154164452
GRCh38: 1:154191976-154191976
20 TPM3 NM_152263.4(TPM3):c.271C>T (p.Arg91Cys) SNV Likely pathogenic 652762 rs1571418855 GRCh37: 1:154148697-154148697
GRCh38: 1:154176221-154176221
21 TPM3 NM_152263.4(TPM3):c.43G>A (p.Asp15Asn) SNV Likely pathogenic 801549 rs1553251644 GRCh37: 1:154164452-154164452
GRCh38: 1:154191976-154191976
22 TPM3 NM_152263.4(TPM3):c.7G>C (p.Glu3Gln) SNV Likely pathogenic 801550 rs1571456678 GRCh37: 1:154164488-154164488
GRCh38: 1:154192012-154192012
23 TPM3 NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) SNV Likely pathogenic 12453 rs121964854 GRCh37: 1:154145448-154145448
GRCh38: 1:154172972-154172972
24 KBTBD13 NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro) SNV Conflicting interpretations of pathogenicity 499718 rs767384093 GRCh37: 15:65369443-65369443
GRCh38: 15:65077105-65077105
25 KBTBD13 NM_001101362.2(KBTBD13):c.162C>T (p.Ser54=) SNV Conflicting interpretations of pathogenicity 763184 rs1162054356 GRCh37: 15:65369315-65369315
GRCh38: 15:65076977-65076977
26 KBTBD13 NM_001101362.2(KBTBD13):c.228C>G (p.Asp76Glu) SNV Conflicting interpretations of pathogenicity 316735 rs777431652 GRCh37: 15:65369381-65369381
GRCh38: 15:65077043-65077043
27 KBTBD13 NM_001101362.2(KBTBD13):c.1191G>C (p.Val397=) SNV Conflicting interpretations of pathogenicity 706268 rs376673920 GRCh37: 15:65370344-65370344
GRCh38: 15:65078006-65078006
28 KBTBD13 NM_001101362.2(KBTBD13):c.394G>A (p.Gly132Ser) SNV Conflicting interpretations of pathogenicity 316741 rs373039171 GRCh37: 15:65369547-65369547
GRCh38: 15:65077209-65077209
29 KBTBD13 NM_001101362.2(KBTBD13):c.122G>A (p.Arg41Gln) SNV Uncertain significance 532991 rs760757402 GRCh37: 15:65369275-65369275
GRCh38: 15:65076937-65076937
30 KBTBD13 NM_001101362.2(KBTBD13):c.64C>G (p.Arg22Gly) SNV Uncertain significance 532992 rs1193653136 GRCh37: 15:65369217-65369217
GRCh38: 15:65076879-65076879
31 TPM3 NM_152263.4(TPM3):c.262T>C (p.Ser88Pro) SNV Uncertain significance 561134 rs1558052214 GRCh37: 1:154148706-154148706
GRCh38: 1:154176230-154176230
32 KBTBD13 NM_001101362.2(KBTBD13):c.823G>C (p.Val275Leu) SNV Uncertain significance 565452 rs1566960251 GRCh37: 15:65369976-65369976
GRCh38: 15:65077638-65077638
33 KBTBD13 NM_001101362.2(KBTBD13):c.670G>A (p.Val224Met) SNV Uncertain significance 566275 rs377035059 GRCh37: 15:65369823-65369823
GRCh38: 15:65077485-65077485
34 KBTBD13 NM_001101362.2(KBTBD13):c.1042del (p.Ala348fs) Deletion Uncertain significance 566645 rs760102500 GRCh37: 15:65370194-65370194
GRCh38: 15:65077856-65077856
35 KBTBD13 NM_001101362.2(KBTBD13):c.702C>G (p.Asp234Glu) SNV Uncertain significance 567176 rs761192296 GRCh37: 15:65369855-65369855
GRCh38: 15:65077517-65077517
36 KBTBD13 NM_001101362.2(KBTBD13):c.775C>T (p.Arg259Cys) SNV Uncertain significance 567242 rs780964425 GRCh37: 15:65369928-65369928
GRCh38: 15:65077590-65077590
37 TPM3 NM_152263.4(TPM3):c.855-1G>A SNV Uncertain significance 12448 rs113605263 GRCh37: 1:154140417-154140417
GRCh38: 1:154167941-154167941
38 KBTBD13 NM_001101362.2(KBTBD13):c.331G>A (p.Asp111Asn) SNV Uncertain significance 316738 rs567309902 GRCh37: 15:65369484-65369484
GRCh38: 15:65077146-65077146
39 KBTBD13 NM_001101362.2(KBTBD13):c.646G>A (p.Gly216Ser) SNV Uncertain significance 572083 rs1052506752 GRCh37: 15:65369799-65369799
GRCh38: 15:65077461-65077461
40 KBTBD13 NM_001101362.2(KBTBD13):c.359del (p.Asp120fs) Deletion Uncertain significance 572353 rs903604256 GRCh37: 15:65369512-65369512
GRCh38: 15:65077174-65077174
41 KBTBD13 NM_001101362.2(KBTBD13):c.491C>G (p.Thr164Arg) SNV Uncertain significance 574587 rs1404956647 GRCh37: 15:65369644-65369644
GRCh38: 15:65077306-65077306
42 KBTBD13 NM_001101362.2(KBTBD13):c.607G>C (p.Gly203Arg) SNV Uncertain significance 576230 rs944113571 GRCh37: 15:65369760-65369760
GRCh38: 15:65077422-65077422
43 TPM3 NM_152263.4(TPM3):c.329C>T (p.Ala110Val) SNV Uncertain significance 623645 rs1558052023 GRCh37: 1:154148639-154148639
GRCh38: 1:154176163-154176163
44 KBTBD13 NM_001101362.2(KBTBD13):c.607_615del (p.Gly203_Ala205del) Deletion Uncertain significance 640267 rs1595912738 GRCh37: 15:65369755-65369763
GRCh38: 15:65077417-65077425
45 KBTBD13 NM_001101362.2(KBTBD13):c.542A>C (p.Asp181Ala) SNV Uncertain significance 643197 rs1386416146 GRCh37: 15:65369695-65369695
GRCh38: 15:65077357-65077357
46 KBTBD13 NM_001101362.2(KBTBD13):c.1112G>C (p.Cys371Ser) SNV Uncertain significance 643647 rs1019923438 GRCh37: 15:65370265-65370265
GRCh38: 15:65077927-65077927
47 KBTBD13 NM_001101362.2(KBTBD13):c.947A>C (p.Asp316Ala) SNV Uncertain significance 643919 rs1021462149 GRCh37: 15:65370100-65370100
GRCh38: 15:65077762-65077762
48 TPM3 NM_152263.4(TPM3):c.761T>C (p.Ile254Thr) SNV Uncertain significance 647207 rs761036509 GRCh37: 1:154142890-154142890
GRCh38: 1:154170414-154170414
49 KBTBD13 NM_001101362.2(KBTBD13):c.470A>T (p.Tyr157Phe) SNV Uncertain significance 649527 rs1481116487 GRCh37: 15:65369623-65369623
GRCh38: 15:65077285-65077285
50 KBTBD13 NM_001101362.2(KBTBD13):c.881C>T (p.Pro294Leu) SNV Uncertain significance 653303 rs754870477 GRCh37: 15:65370034-65370034
GRCh38: 15:65077696-65077696

Expression for Childhood-Onset Nemaline Myopathy

Search GEO for disease gene expression data for Childhood-Onset Nemaline Myopathy.

Pathways for Childhood-Onset Nemaline Myopathy

GO Terms for Childhood-Onset Nemaline Myopathy

Cellular components related to Childhood-Onset Nemaline Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.91 TPM3 TPM2 NEB KLHL41 KBTBD13 ACTA1
2 cytoplasm GO:0005737 9.91 TPM3 TPM2 NEB MYPN KLHL41 KBTBD13
3 cytoskeleton GO:0005856 9.72 TPM3 TPM2 NEB KLHL41 ACTA1
4 Z disc GO:0030018 9.46 NEB MYPN
5 actin filament GO:0005884 9.43 TPM3 TPM2 ACTA1
6 stress fiber GO:0001725 9.4 TPM3 ACTA1
7 muscle thin filament tropomyosin GO:0005862 9.16 TPM3 TPM2
8 sarcomere GO:0030017 9.13 NEB MYPN ACTA1
9 actin cytoskeleton GO:0015629 8.92 TPM3 TPM2 NEB ACTA1

Biological processes related to Childhood-Onset Nemaline Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.33 TPM3 TPM2 KBTBD13
2 sarcomere organization GO:0045214 9.32 MYPN KLHL41
3 skeletal muscle fiber development GO:0048741 9.26 KLHL41 ACTA1
4 muscle contraction GO:0006936 9.13 TPM3 TPM2 ACTA1
5 muscle filament sliding GO:0030049 8.92 TPM3 TPM2 NEB ACTA1

Molecular functions related to Childhood-Onset Nemaline Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.26 TPM3 TPM2 NEB MYPN
2 structural constituent of muscle GO:0008307 9.16 TPM2 NEB
3 actin filament binding GO:0051015 8.92 TPM3 TPM2 NEB KBTBD13

Sources for Childhood-Onset Nemaline Myopathy

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