Intermediate Congenital Nemaline Myopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: INT274 MIFTS: 36	Intermediate Congenital Nemaline Myopathy Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Intermediate Congenital Nemaline Myopathy

MalaCards integrated aliases for Intermediate Congenital Nemaline Myopathy:

Name: Intermediate Congenital Nemaline Myopathy ²⁰

Intermediate Nemaline Myopathy ²⁰ ⁵⁸

Intermediate Congenital Nm ²⁰

Characteristics:

Orphanet epidemiological data:

⁵⁸

intermediate nemaline myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Muscle diseases Respiratory diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

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Summaries for Intermediate Congenital Nemaline Myopathy

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171433 Definition Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression. Epidemiology The annual incidence of NM has been estimated at 1/50,000 live births, and intermediate NM might represent 20% of all cases. Clinical description Neonates with intermediate NM present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalized weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures. Etiology The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with intermediate NM and the transmission pattern of the disease is autosomal recessive or dominant.

MalaCards based summary : Intermediate Congenital Nemaline Myopathy, also known as intermediate nemaline myopathy, is related to foot drop and cap myopathy. An important gene associated with Intermediate Congenital Nemaline Myopathy is TPM3 (Tropomyosin 3), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are nemaline bodies and severe muscular hypotonia

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Related Diseases for Intermediate Congenital Nemaline Myopathy

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 Intermediate Congenital Nemaline Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	foot drop	9.9	NEB ACTA1
2	cap myopathy	9.9	TPM3 ACTA1
3	hyaline body myopathy	9.9	NEB ACTA1
4	myopathy, congenital, with fiber-type disproportion	9.8	TPM3 ACTA1
5	centronuclear myopathy	9.8	NEB ACTA1
6	cardiomyopathy, familial hypertrophic, 1	9.7	TPM3 NEB
7	myofibrillar myopathy	9.7	NEB ACTA1
8	nemaline myopathy 2	9.7	NEB KLHL41
9	multiple pterygium syndrome, escobar variant	9.7	NEB KLHL41
10	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	9.6	TPM3 NEB ACTA1
11	batten-turner congenital myopathy	9.6	TPM3 NEB ACTA1
12	distal arthrogryposis	9.6	TPM3 NEB ACTA1
13	neuromuscular disease	9.6	NEB ACTA1
14	typical congenital nemaline myopathy	9.5	NEB KLHL41 ACTA1
15	nemaline myopathy 3	9.5	NEB KLHL41 ACTA1
16	severe congenital nemaline myopathy	9.5	NEB KLHL41 ACTA1
17	nemaline myopathy	9.2	TPM3 NEB KLHL41 ACTA1
18	myopathy	9.2	TPM3 NEB KLHL41 ACTA1
19	childhood-onset nemaline myopathy	9.2	TPM3 NEB KLHL41 ACTA1
20	congenital structural myopathy	9.2	TPM3 NEB KLHL41 ACTA1
21	congenital fiber-type disproportion	9.2	TPM3 NEB KLHL41 ACTA1

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

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Symptoms & Phenotypes for Intermediate Congenital Nemaline Myopathy

Human phenotypes related to Intermediate Congenital Nemaline Myopathy:

⁵⁸ ³¹ (show all 30)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	nemaline bodies ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003798
2	severe muscular hypotonia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006829
3	generalized muscle weakness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003324
4	dysphagia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002015
5	skeletal muscle atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003202
6	emg: myopathic abnormalities ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003458
7	motor delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001270
8	type 1 muscle fiber predominance ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003803
9	polyhydramnios ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001561
10	decreased fetal movement ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001558
11	hyporeflexia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001265
12	respiratory failure ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002878
13	difficulty walking ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002355
14	hypokinesia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002375
15	myopathic facies ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002058
16	multiple prenatal fractures ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005855
17	abnormal thorax morphology ³¹	frequent (33%)		HP:0000765
18	hypertelorism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000316
19	low-set ears ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000369
20	high, narrow palate ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002705
21	ophthalmoplegia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000602
22	long philtrum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000343
23	areflexia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001284
24	premature birth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001622
25	facial diplegia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001349
26	arthrogryposis multiplex congenita ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002804
27	facial palsy ⁵⁸		Frequent (79-30%)
28	flexion contracture ⁵⁸		Frequent (79-30%)
29	abnormality of the thorax ⁵⁸		Frequent (79-30%)
30	cardiomyopathy ⁵⁸		Excluded (0%)

MGI Mouse Phenotypes related to Intermediate Congenital Nemaline Myopathy:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	8.92	ACTA1 KLHL41 NEB TPM3

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Drugs & Therapeutics for Intermediate Congenital Nemaline Myopathy

Search Clinical Trials , NIH Clinical Center for Intermediate Congenital Nemaline Myopathy

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Genetic Tests for Intermediate Congenital Nemaline Myopathy

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Anatomical Context for Intermediate Congenital Nemaline Myopathy

MalaCards organs/tissues related to Intermediate Congenital Nemaline Myopathy:

⁴⁰

Skeletal Muscle

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Publications for Intermediate Congenital Nemaline Myopathy

Articles related to Intermediate Congenital Nemaline Myopathy:

(show all 26)

#	Title	Authors	PMID	Year
1	Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. ⁶	Park HJ...Choi YC	27363342	2017
2	Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. ⁶	Punetha J...Hoffman EP	27854218	2016
3	TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. ⁶	Donkervoort S...Bonnemann CG	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	Yuen M...Clarke NF	26307083	2015
5	Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. ⁶	Marttila M...Wallgren-Pettersson C	24692096	2014
6	Congenital fiber type disproportion myopathy caused by LMNA mutations. ⁶	Kajino S...Hayashi YK	24642510	2014
7	Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. ⁶	Citirak G...Vissing J	24507666	2014
8	Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients. ⁶	Marston S...Lehman W	23886664	2013
9	Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. ⁶	Malfatti E...Romero NB	24095155	2013
10	Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. ⁶	Robaszkiewicz K...Moraczewska J	22749829	2012
11	Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms. ⁶	Ochala J...Fowler VM	22798622	2012
12	Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. ⁶	Ottenheijm CA...Beggs AH	21357678	2011
13	Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. ⁶	Waddell LB...Clarke NF	20554445	2010
14	Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. ⁶	Lawlor MW...Beggs AH	19953533	2010
15	A TPM3 mutation causing cap myopathy. ⁶	De Paula AM...Pouget J	19553118	2009
16	TPM3 mutation in one of the original cases of cap disease. ⁶	Ohlsson M...Oldfors A	19487656	2009
17	Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. ⁶	Lehtokari VL...Wallgren-Pettersson C	18382475	2008
18	Mutations in TPM3 are a common cause of congenital fiber type disproportion. ⁶	Clarke NF...North KN	18300303	2008
19	A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. ⁶	Penisson-Besnier I...Laing N	17376686	2007
20	An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. ⁶	Corbett MA...Hardeman EC	15562513	2005
21	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	Durling HJ...Laing NG	12467750	2002
22	Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. ⁶	Wattanasirichaigoon D...Beggs AH	12196661	2002
23	Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. ⁶	Tan P...Laing NG	10619715	1999
24	A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. ⁶	Michele DE...Metzger JM	10587521	1999
25	A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. ⁶	Laing NG...Love DR	7704029	1995
26	[Congenital myopathy with selective hypotrophy of type I fibers]. ⁶	Serratrice G...Pouget J	1221488	1975

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Genes for Intermediate Congenital Nemaline Myopathy

Genes related to Intermediate Congenital Nemaline Myopathy (4 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TPM3	Tropomyosin 3	Protein Coding	775	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶	10619715 18300303 26307083 (more) 24095155 24692096 22798622 19953533 20554445 19553118 21357678 19487656 24507666 12467750 22749829 27363342 24642510 17376686 23886664 26418456 18382475 1221488 12196661 7704029 10587521 15562513 27854218
2	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	350	Causative germline mutation ⁵⁸
3	KLHL41	Kelch Like Family Member 41	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	24268659
4	NEB	Nebulin	Protein Coding	350	Causative germline mutation ⁵⁸

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Variations for Intermediate Congenital Nemaline Myopathy

ClinVar genetic disease variations for Intermediate Congenital Nemaline Myopathy:

⁶ (show top 50) (show all 171)

#	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.670_672GAA[1] (p.Glu225del)	Microsatellite	Pathogenic	235143	rs876661406	GRCh37: 1:154143155-154143157 GRCh38: 1:154170679-154170681
7	TPM3	NM_152263.4(TPM3):c.654_656AGA[1] (p.Glu219del)	Microsatellite	Pathogenic	235144	rs876661407	GRCh37: 1:154143171-154143173 GRCh38: 1:154170695-154170697
8	TPM3	NM_152263.4(TPM3):c.758C>A (p.Thr253Lys)	SNV	Pathogenic	462142	rs1553248515	GRCh37: 1:154142893-154142893 GRCh38: 1:154170417-154170417
9	TPM3	NM_152263.4(TPM3):c.503G>A (p.Arg168His)	SNV	Pathogenic	12450	rs121964852	GRCh37: 1:154145447-154145447 GRCh38: 1:154172971-154172971
10	TPM3	NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)	SNV	Pathogenic	12454	rs121964854	GRCh37: 1:154145448-154145448 GRCh38: 1:154172972-154172972
11	TPM3	NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)	SNV	Pathogenic	12449	rs80358248	GRCh37: 1:154164401-154164401 GRCh38: 1:154191925-154191925
12	TPM3	NM_152263.4(TPM3):c.377+863_775+422del	Deletion	Likely pathogenic	974884		GRCh37: 1:154142454-154147728 GRCh38: 1:154169978-154175252
13	TPM3	NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)	SNV	Likely pathogenic	12453	rs121964854	GRCh37: 1:154145448-154145448 GRCh38: 1:154172972-154172972
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.494A>G (p.Glu165Gly)	SNV	Uncertain significance	842726		GRCh37: 1:154145561-154145561 GRCh38: 1:154173085-154173085
20	TPM3	NM_152263.4(TPM3):c.466G>A (p.Ala156Thr)	SNV	Uncertain significance	140498	rs199474714	GRCh37: 1:154145589-154145589 GRCh38: 1:154173113-154173113
21	TPM3	NM_152263.4(TPM3):c.*5795C>T	SNV	Uncertain significance	873749		GRCh37: 1:154134618-154134618 GRCh38: 1:154162142-154162142
22	TPM3	NM_152263.4(TPM3):c.*5266T>G	SNV	Uncertain significance	873798		GRCh37: 1:154135147-154135147 GRCh38: 1:154162671-154162671
23	TPM3	NM_152263.4(TPM3):c.*5239C>T	SNV	Uncertain significance	873799		GRCh37: 1:154135174-154135174 GRCh38: 1:154162698-154162698
24	TPM3	NM_152263.4(TPM3):c.*4806A>C	SNV	Uncertain significance	873855		GRCh37: 1:154135607-154135607 GRCh38: 1:154163131-154163131
25	TPM3	NM_152263.4(TPM3):c.*4287A>G	SNV	Uncertain significance	873909		GRCh37: 1:154136126-154136126 GRCh38: 1:154163650-154163650
26	TPM3	NM_152263.4(TPM3):c.*3481C>T	SNV	Uncertain significance	873972		GRCh37: 1:154136932-154136932 GRCh38: 1:154164456-154164456
27	TPM3	NM_152263.4(TPM3):c.*3298A>G	SNV	Uncertain significance	873973		GRCh37: 1:154137115-154137115 GRCh38: 1:154164639-154164639
28	TPM3	NM_152263.4(TPM3):c.*2544C>T	SNV	Uncertain significance	874032		GRCh37: 1:154137869-154137869 GRCh38: 1:154165393-154165393
29	TPM3	NM_152263.4(TPM3):c.*2423G>A	SNV	Uncertain significance	874033		GRCh37: 1:154137990-154137990 GRCh38: 1:154165514-154165514
30	TPM3	NM_152263.4(TPM3):c.*2101T>C	SNV	Uncertain significance	874087		GRCh37: 1:154138312-154138312 GRCh38: 1:154165836-154165836
31	TPM3	NM_152263.4(TPM3):c.*2053G>C	SNV	Uncertain significance	874088		GRCh37: 1:154138360-154138360 GRCh38: 1:154165884-154165884
32	TPM3	NM_152263.4(TPM3):c.*1077A>C	SNV	Uncertain significance	874145		GRCh37: 1:154139336-154139336 GRCh38: 1:154166860-154166860
33	TPM3	NM_152263.4(TPM3):c.776-14C>T	SNV	Uncertain significance	874255		GRCh37: 1:154141873-154141873 GRCh38: 1:154169397-154169397
34	TPM3	NM_152263.4(TPM3):c.*5715C>T	SNV	Uncertain significance	873750		GRCh37: 1:154134698-154134698 GRCh38: 1:154162222-154162222
35	TPM3	NM_152263.4(TPM3):c.*5658G>A	SNV	Uncertain significance	874703		GRCh37: 1:154134755-154134755 GRCh38: 1:154162279-154162279
36	TPM3	NM_152263.4(TPM3):c.*5640C>T	SNV	Uncertain significance	874704		GRCh37: 1:154134773-154134773 GRCh38: 1:154162297-154162297
37	TPM3	NM_152263.4(TPM3):c.*5204C>T	SNV	Uncertain significance	873800		GRCh37: 1:154135209-154135209 GRCh38: 1:154162733-154162733
38	TPM3	NM_152263.4(TPM3):c.665A>T (p.Tyr222Phe)	SNV	Uncertain significance	652272	rs142817656	GRCh37: 1:154143165-154143165 GRCh38: 1:154170689-154170689
39	TPM3	NM_152263.4(TPM3):c.262T>C (p.Ser88Pro)	SNV	Uncertain significance	561134	rs1558052214	GRCh37: 1:154148706-154148706 GRCh38: 1:154176230-154176230
40	TPM3	NM_152263.4(TPM3):c.855-1G>A	SNV	Uncertain significance	12448	rs113605263	GRCh37: 1:154140417-154140417 GRCh38: 1:154167941-154167941
41	TPM3	NM_152263.4(TPM3):c.857A>C (p.Ter286Ser)	SNV	Uncertain significance	12447	rs199474720	GRCh37: 1:154140414-154140414 GRCh38: 1:154167938-154167938
42	TPM3	NM_152263.4(TPM3):c.329C>T (p.Ala110Val)	SNV	Uncertain significance	623645	rs1558052023	GRCh37: 1:154148639-154148639 GRCh38: 1:154176163-154176163
43	TPM3	NM_152263.4(TPM3):c.761T>C (p.Ile254Thr)	SNV	Uncertain significance	647207	rs761036509	GRCh37: 1:154142890-154142890 GRCh38: 1:154170414-154170414
44	TPM3	NM_152263.4(TPM3):c.*5583C>T	SNV	Uncertain significance	292629	rs886045286	GRCh37: 1:154134830-154134830 GRCh38: 1:154162354-154162354
45	TPM3	NM_152263.4(TPM3):c.*61C>A	SNV	Uncertain significance	292692	rs886045317	GRCh37: 1:154140352-154140352 GRCh38: 1:154167876-154167876
46	TPM3	NM_152263.4(TPM3):c.788C>G (p.Ala263Gly)	SNV	Uncertain significance	462143	rs1455676920	GRCh37: 1:154141847-154141847 GRCh38: 1:154169371-154169371
47	TPM3	NM_152263.4(TPM3):c.65G>A (p.Arg22Gln)	SNV	Uncertain significance	462141	rs1553251640	GRCh37: 1:154164430-154164430 GRCh38: 1:154191954-154191954
48	TPM3	NM_152263.4(TPM3):c.760A>G (p.Ile254Val)	SNV	Uncertain significance	531179	rs1553248513	GRCh37: 1:154142891-154142891 GRCh38: 1:154170415-154170415
49	TPM3	NM_152263.4(TPM3):c.*283G>C	SNV	Uncertain significance	292691	rs886045316	GRCh37: 1:154140130-154140130 GRCh38: 1:154167654-154167654
50	TPM3	NM_152263.4(TPM3):c.*5755A>G	SNV	Uncertain significance	292626	rs777522493	GRCh37: 1:154134658-154134658 GRCh38: 1:154162182-154162182

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Expression for Intermediate Congenital Nemaline Myopathy

Search GEO for disease gene expression data for Intermediate Congenital Nemaline Myopathy.

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Pathways for Intermediate Congenital Nemaline Myopathy

Pathways related to Intermediate Congenital Nemaline Myopathy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Striated Muscle Contraction ⁶⁵ ¹	10.66	TPM3 NEB ACTA1

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GO Terms for Intermediate Congenital Nemaline Myopathy

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

#	Name	GO ID	Score	Top Affiliating Genes
1	actin filament	GO:0005884	9.32	TPM3 ACTA1
2	stress fiber	GO:0001725	9.26	TPM3 ACTA1
3	cytoskeleton	GO:0005856	9.26	TPM3 NEB KLHL41 ACTA1
4	sarcomere	GO:0030017	9.16	NEB ACTA1
5	actin cytoskeleton	GO:0015629	8.8	TPM3 NEB ACTA1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	muscle contraction	GO:0006936	9.16	TPM3 ACTA1
2	skeletal muscle fiber development	GO:0048741	8.96	KLHL41 ACTA1
3	muscle filament sliding	GO:0030049	8.8	TPM3 NEB ACTA1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	actin filament binding	GO:0051015	8.62	TPM3 NEB

Sources

Sources for Intermediate Congenital Nemaline Myopathy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia