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

MCID: SVR040 MIFTS: 37	Severe 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 Severe Congenital Nemaline Myopathy

MalaCards integrated aliases for Severe Congenital Nemaline Myopathy:

Name: Severe Congenital Nemaline Myopathy ²⁰ ⁵⁸

Severe Congenital Nm ²⁰

Characteristics:

Orphanet epidemiological data:

⁵⁸

severe congenital nemaline myopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

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:

ICD10 via Orphanet ³³ G71.2

Orphanet ⁵⁸ ORPHA171430

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Summaries for Severe 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: 171430 Definition Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates. Epidemiology The annual incidence of NM has been estimated at 1/50,000 live births and the severe congenital form might represent 10-20% of all cases. Clinical description Neonates have sucking and swallowing difficulties, and gastroesophageal reflux, which leads to failure to thrive. Involvement of diaphragm and intercostal muscles contributes to respiratory insufficiency. Cardiomyopathy and arthrogryposis may occur. Survival after infancy is rare. Etiology The ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of NM. Genetic counseling NM is transmitted in an autosomal recessive fashion or occurs sporadically.

MalaCards based summary : Severe Congenital Nemaline Myopathy, also known as severe congenital nm, is related to nemaline myopathy and myopathy. An important gene associated with Severe Congenital Nemaline Myopathy is KLHL40 (Kelch Like Family Member 40), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are dysphagia and skeletal muscle atrophy

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Related Diseases for Severe 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 Severe Congenital Nemaline Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)

#	Related Disease	Score	Top Affiliating Genes
1	nemaline myopathy	30.1	NEB KLHL41 ACTA1
2	myopathy	29.2	NEB LMOD3 KLHL41 KLHL40 ACTA1
3	nemaline myopathy 2	29.1	NEB LMOD3 KLHL41 KLHL40
4	nemaline myopathy 3	28.6	NEB LMOD3 KLHL41 KLHL40 ACTA1
5	batten-turner congenital myopathy	28.6	NEB LMOD3 KLHL41 KLHL40 ACTA1
6	congenital nemaline myopathy	10.5
7	hypotonia	10.2
8	minicore myopathy with external ophthalmoplegia	10.1
9	muscular disease	10.1
10	neuromuscular disease	10.1
11	muscular dystrophy	10.1
12	lymphangiectasis	10.1
13	congenital amyoplasia	10.1
14	myopathy, spheroid body	9.9	NEB LMOD3
15	foot drop	9.9	NEB ACTA1
16	nemaline myopathy 8	9.9	LMOD3 KLHL40
17	hyaline body myopathy	9.9	NEB ACTA1
18	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	9.8	NEB ACTA1
19	myofibrillar myopathy	9.8	NEB ACTA1
20	nemaline myopathy 11, autosomal recessive	9.8	LMOD3 KLHL41
21	fetal akinesia deformation sequence 1	9.7	KLHL40 ACTA1
22	centronuclear myopathy	9.6	NEB KLHL40 ACTA1
23	distal arthrogryposis	9.6	NEB ACTA1
24	respiratory failure	9.5	LMOD3 KLHL40 ACTA1
25	nemaline myopathy 9	9.5	LMOD3 KLHL41 KLHL40
26	nemaline myopathy 10	9.5	LMOD3 KLHL41 KLHL40
27	intermediate congenital nemaline myopathy	9.5	NEB KLHL41 ACTA1
28	childhood-onset nemaline myopathy	9.5	NEB KLHL41 ACTA1
29	multiple pterygium syndrome, escobar variant	9.3	NEB LMOD3 KLHL41 KLHL40
30	typical congenital nemaline myopathy	9.2	NEB LMOD3 KLHL41 ACTA1
31	congenital structural myopathy	9.0	NEB LMOD3 KLHL41 KLHL40 ACTA1
32	congenital fiber-type disproportion	8.9	NEB LMOD3 KLHL41 KLHL40 ACTA1

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

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Symptoms & Phenotypes for Severe Congenital Nemaline Myopathy

Human phenotypes related to Severe Congenital Nemaline Myopathy:

⁵⁸ ³¹ (show all 30)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dysphagia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002015
2	skeletal muscle atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003202
3	motor delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001270
4	type 1 muscle fiber predominance ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003803
5	nemaline bodies ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003798
6	polyhydramnios ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001561
7	decreased fetal movement ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001558
8	severe muscular hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0006829
9	respiratory failure ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002878
10	hypokinesia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002375
11	axial muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003327
12	breech presentation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001623
13	increased connective tissue ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009025
14	multiple prenatal fractures ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005855
15	low-set ears ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000369
16	ophthalmoplegia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000602
17	micropenis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000054
18	hypospadias ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000047
19	adducted thumb ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001181
20	large fontanelles ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000239
21	arthrogryposis multiplex congenita ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002804
22	premature birth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001622
23	pulmonary hypoplasia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002089
24	thin ribs ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000883
25	edema of the dorsum of hands ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007514
26	facial diplegia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001349
27	abnormality of the diaphragm ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000775
28	facial palsy ⁵⁸		Frequent (79-30%)
29	flexion contracture ⁵⁸		Frequent (79-30%)
30	abnormality of the thorax ⁵⁸		Frequent (79-30%)

MGI Mouse Phenotypes related to Severe Congenital Nemaline Myopathy:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.35	ACTA1 KLHL40 KLHL41 LMOD3 NEB
2	muscle	MP:0005369	9.02	ACTA1 KLHL40 KLHL41 LMOD3 NEB

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Drugs & Therapeutics for Severe Congenital Nemaline Myopathy

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

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Genetic Tests for Severe Congenital Nemaline Myopathy

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Anatomical Context for Severe Congenital Nemaline Myopathy

MalaCards organs/tissues related to Severe Congenital Nemaline Myopathy:

⁴⁰

Skeletal Muscle

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Publications for Severe Congenital Nemaline Myopathy

Articles related to Severe Congenital Nemaline Myopathy:

(show all 13)

#	Title	Authors	PMID	Year
1	Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese. ⁶	Lee HH...Mak CM	31360996	2019
2	Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. ⁶	Meng L...Lalani SR	28973083	2017
3	Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence. ⁶	Chen TH...Jong YJ	27762439	2016
4	Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8). ⁶	Seferian AM...Servais L	27528495	2016
5	Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. ⁶	Ravenscroft G...Laing NG	23746549	2013
6	[Clinical features and gene mutation analysis of severe congenital nemaline myopathy in one neonate]. ⁶¹	Hu XW...Gao JM	31104670	2019
7	Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. ⁶¹	Sandaradura SA...Cooper ST	29266598	2018
8	Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. ⁶¹	Waisayarat J...Rochanawutanon M	25890230	2015
9	Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. ⁶¹	Kondo E...Saito K	22407809	2012
10	Mutations in the nebulin gene can cause severe congenital nemaline myopathy. ⁶¹	Wallgren-Pettersson C...Pelin K	12207937	2002
11	Severe congenital nemaline myopathy: a personal perspective. ⁶¹	Marinone K	9526359	1998
12	A new case of severe congenital nemaline myopathy. ⁶¹	Buonocore G...Bagnoli F	8155933	1993
13	Intranuclear rods in severe congenital nemaline myopathy. ⁶¹	Rifai Z...Griggs RC	8232959	1993

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Genes for Severe Congenital Nemaline Myopathy

Genes related to Severe Congenital Nemaline Myopathy (5 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KLHL40	Kelch Like Family Member 40	Protein Coding	775	Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Likely pathogenic ⁶	23746549 27762439 31360996 (more) 27528495 28973083
2	NEB	Nebulin	Protein Coding	357.6	Causative germline mutation ⁵⁸ GeneCards inferred via : Publications (show sections)
3	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	350	Causative germline mutation ⁵⁸
4	KLHL41	Kelch Like Family Member 41	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	24268659
5	LMOD3	Leiomodin 3	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	25250574

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Variations for Severe Congenital Nemaline Myopathy

ClinVar genetic disease variations for Severe Congenital Nemaline Myopathy:

⁶ (show top 50) (show all 188)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	KLHL40	NM_152393.4(KLHL40):c.1498C>T (p.Arg500Cys)	SNV	Pathogenic	423767	rs758188096	GRCh37: 3:42730437-42730437 GRCh38: 3:42688945-42688945
2	KLHL40	NM_152393.4(KLHL40):c.818dup (p.Lys275fs)	Duplication	Pathogenic	650910	rs1575218831	GRCh37: 3:42727926-42727927 GRCh38: 3:42686434-42686435
3	KLHL40	NM_152393.4(KLHL40):c.631del (p.Ala211fs)	Deletion	Pathogenic	658674	rs752734208	GRCh37: 3:42727740-42727740 GRCh38: 3:42686248-42686248
4	KLHL40	NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro)	SNV	Pathogenic	846771		GRCh37: 3:42730455-42730455 GRCh38: 3:42688963-42688963
5	KLHL40	NM_152393.4(KLHL40):c.211G>T (p.Glu71Ter)	SNV	Pathogenic	961304		GRCh37: 3:42727321-42727321 GRCh38: 3:42685829-42685829
6	KLHL40	NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter)	SNV	Pathogenic	1029197		GRCh37: 3:42727813-42727813 GRCh38: 3:42686321-42686321
7	KLHL40	NM_152393.4(KLHL40):c.602G>A (p.Trp201Ter)	SNV	Pathogenic	60516	rs397509420	GRCh37: 3:42727712-42727712 GRCh38: 3:42686220-42686220
8	KLHL40	NM_152393.4(KLHL40):c.1612G>C (p.Ala538Pro)	SNV	Pathogenic	60515	rs397509421	GRCh37: 3:42732355-42732355 GRCh38: 3:42690863-42690863
9	KLHL40	NM_152393.4(KLHL40):c.602G>T (p.Trp201Leu)	SNV	Pathogenic	60514	rs397509420	GRCh37: 3:42727712-42727712 GRCh38: 3:42686220-42686220
10	KLHL40	NM_152393.4(KLHL40):c.1405G>T (p.Gly469Cys)	SNV	Pathogenic	60513	rs367579275	GRCh37: 3:42730193-42730193 GRCh38: 3:42688701-42688701
11	KLHL40	NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys)	SNV	Pathogenic	60512	rs397509419	GRCh37: 3:42730521-42730521 GRCh38: 3:42689029-42689029
12	KLHL40	NM_152393.4(KLHL40):c.544_545del (p.Ser182fs)	Microsatellite	Pathogenic	952701		GRCh37: 3:42727652-42727653 GRCh38: 3:42686160-42686161
13	KLHL40	NM_152393.4(KLHL40):c.1395C>A (p.Tyr465Ter)	SNV	Pathogenic	541327	rs139588377	GRCh37: 3:42730183-42730183 GRCh38: 3:42688691-42688691
14	KLHL40	NM_152393.4(KLHL40):c.541_547delinsGTAAG (p.Ile181fs)	Indel	Pathogenic	1029195		GRCh37: 3:42727651-42727657 GRCh38: 3:42686159-42686165
15	KLHL40	NM_152393.4(KLHL40):c.1489C>T (p.Gln497Ter)	SNV	Likely pathogenic	1029196		GRCh37: 3:42730428-42730428 GRCh38: 3:42688936-42688936
16	KLHL40	NM_152393.4(KLHL40):c.1153-2A>T	SNV	Likely pathogenic	541330	rs752493018	GRCh37: 3:42729632-42729632 GRCh38: 3:42688140-42688140
17	KLHL40	NM_152393.4(KLHL40):c.1152+2T>A	SNV	Likely pathogenic	653053	rs1575219191	GRCh37: 3:42728264-42728264 GRCh38: 3:42686772-42686772
18	KLHL40	NM_152393.4(KLHL40):c.25G>T (p.Glu9Ter)	SNV	Likely pathogenic	804436	rs1575218072	GRCh37: 3:42727135-42727135 GRCh38: 3:42685643-42685643
19	KLHL40	NM_152393.4(KLHL40):c.176G>C (p.Arg59Pro)	SNV	Likely pathogenic	807621	rs778303947	GRCh37: 3:42727286-42727286 GRCh38: 3:42685794-42685794
20	KLHL40	NM_152393.4(KLHL40):c.1421+1G>T	SNV	Likely pathogenic	571143	rs1186218257	GRCh37: 3:42730210-42730210 GRCh38: 3:42688718-42688718
21	KLHL40	NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)	SNV	Conflicting interpretations of pathogenicity	474339	rs763283033	GRCh37: 3:42728041-42728041 GRCh38: 3:42686549-42686549
22	KLHL40	NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser)	SNV	Conflicting interpretations of pathogenicity	474324	rs138791086	GRCh37: 3:42729754-42729754 GRCh38: 3:42688262-42688262
23	KLHL40	NM_152393.4(KLHL40):c.100G>C (p.Asp34His)	SNV	Conflicting interpretations of pathogenicity	640377	rs778565563	GRCh37: 3:42727210-42727210 GRCh38: 3:42685718-42685718
24	KLHL40	NM_152393.4(KLHL40):c.1414A>G (p.Ser472Gly)	SNV	Uncertain significance	640159	rs752099249	GRCh37: 3:42730202-42730202 GRCh38: 3:42688710-42688710
25	KLHL40	NM_152393.4(KLHL40):c.1792C>T (p.Arg598Trp)	SNV	Uncertain significance	566417	rs767572121	GRCh37: 3:42733411-42733411 GRCh38: 3:42691919-42691919
26	KLHL40	NM_152393.4(KLHL40):c.197C>G (p.Pro66Arg)	SNV	Uncertain significance	541332	rs200810691	GRCh37: 3:42727307-42727307 GRCh38: 3:42685815-42685815
27	KLHL40	NM_152393.4(KLHL40):c.1709C>T (p.Thr570Met)	SNV	Uncertain significance	541331	rs139268932	GRCh37: 3:42732452-42732452 GRCh38: 3:42690960-42690960
28	KLHL40	NM_152393.4(KLHL40):c.1793G>C (p.Arg598Pro)	SNV	Uncertain significance	846867		GRCh37: 3:42733412-42733412 GRCh38: 3:42691920-42691920
29	KLHL40	NM_152393.4(KLHL40):c.1439T>C (p.Met480Thr)	SNV	Uncertain significance	848376		GRCh37: 3:42730378-42730378 GRCh38: 3:42688886-42688886
30	KLHL40	NM_152393.4(KLHL40):c.1246G>A (p.Val416Met)	SNV	Uncertain significance	848562		GRCh37: 3:42729727-42729727 GRCh38: 3:42688235-42688235
31	KLHL40	NM_152393.4(KLHL40):c.553G>C (p.Gly185Arg)	SNV	Uncertain significance	851342		GRCh37: 3:42727663-42727663 GRCh38: 3:42686171-42686171
32	KLHL40	NM_152393.4(KLHL40):c.1369G>C (p.Val457Leu)	SNV	Uncertain significance	854435		GRCh37: 3:42730157-42730157 GRCh38: 3:42688665-42688665
33	KLHL40	NM_152393.4(KLHL40):c.1160A>G (p.His387Arg)	SNV	Uncertain significance	855520		GRCh37: 3:42729641-42729641 GRCh38: 3:42688149-42688149
34	KLHL40	NM_152393.4(KLHL40):c.85C>T (p.His29Tyr)	SNV	Uncertain significance	858614		GRCh37: 3:42727195-42727195 GRCh38: 3:42685703-42685703
35	KLHL40	NM_152393.4(KLHL40):c.385T>G (p.Cys129Gly)	SNV	Uncertain significance	859109		GRCh37: 3:42727495-42727495 GRCh38: 3:42686003-42686003
36	KLHL40	NM_152393.4(KLHL40):c.921T>G (p.Asn307Lys)	SNV	Uncertain significance	863137		GRCh37: 3:42728031-42728031 GRCh38: 3:42686539-42686539
37	KLHL40	NM_152393.4(KLHL40):c.1504C>T (p.Leu502Phe)	SNV	Uncertain significance	936703		GRCh37: 3:42730443-42730443 GRCh38: 3:42688951-42688951
38	KLHL40	NM_152393.4(KLHL40):c.361G>C (p.Val121Leu)	SNV	Uncertain significance	940130		GRCh37: 3:42727471-42727471 GRCh38: 3:42685979-42685979
39	KLHL40	NM_152393.4(KLHL40):c.1183A>G (p.Met395Val)	SNV	Uncertain significance	943973		GRCh37: 3:42729664-42729664 GRCh38: 3:42688172-42688172
40	KLHL40	NM_152393.4(KLHL40):c.611G>A (p.Ser204Asn)	SNV	Uncertain significance	943974		GRCh37: 3:42727721-42727721 GRCh38: 3:42686229-42686229
41	KLHL40	NM_152393.4(KLHL40):c.1111G>C (p.Glu371Gln)	SNV	Uncertain significance	949223		GRCh37: 3:42728221-42728221 GRCh38: 3:42686729-42686729
42	KLHL40	NM_152393.4(KLHL40):c.1132A>T (p.Met378Leu)	SNV	Uncertain significance	949243		GRCh37: 3:42728242-42728242 GRCh38: 3:42686750-42686750
43	KLHL40	NM_152393.4(KLHL40):c.273A>G (p.Thr91=)	SNV	Uncertain significance	949568		GRCh37: 3:42727383-42727383 GRCh38: 3:42685891-42685891
44	KLHL40	NM_152393.4(KLHL40):c.1858A>C (p.Lys620Gln)	SNV	Uncertain significance	950017		GRCh37: 3:42733477-42733477 GRCh38: 3:42691985-42691985
45	KLHL40	NM_152393.4(KLHL40):c.1334C>T (p.Ser445Leu)	SNV	Uncertain significance	950737		GRCh37: 3:42730122-42730122 GRCh38: 3:42688630-42688630
46	KLHL40	NM_152393.4(KLHL40):c.1854_1857del (p.Thr619fs)	Deletion	Uncertain significance	950932		GRCh37: 3:42733471-42733474 GRCh38: 3:42691979-42691982
47	KLHL40	NM_152393.4(KLHL40):c.610A>G (p.Ser204Gly)	SNV	Uncertain significance	836423		GRCh37: 3:42727720-42727720 GRCh38: 3:42686228-42686228
48	KLHL40	NM_152393.4(KLHL40):c.108G>A (p.Val36=)	SNV	Uncertain significance	649408	rs533754492	GRCh37: 3:42727218-42727218 GRCh38: 3:42685726-42685726
49	KLHL40	NM_152393.4(KLHL40):c.416T>C (p.Leu139Pro)	SNV	Uncertain significance	642688	rs1328688864	GRCh37: 3:42727526-42727526 GRCh38: 3:42686034-42686034
50	KLHL40	NM_152393.4(KLHL40):c.296C>T (p.Ala99Val)	SNV	Uncertain significance	1034564		GRCh37: 3:42727406-42727406 GRCh38: 3:42685914-42685914

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Expression for Severe Congenital Nemaline Myopathy

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

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Pathways for Severe Congenital Nemaline Myopathy

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

#	Super pathways	Score	Top Affiliating Genes
1	Striated Muscle Contraction ¹ ⁶⁵	10.48	NEB ACTA1

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GO Terms for Severe Congenital Nemaline Myopathy

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.67	NEB LMOD3 KLHL41 ACTA1
2	sarcomere	GO:0030017	9.4	NEB ACTA1
3	myofibril	GO:0030016	9.32	NEB LMOD3
4	Cul3-RING ubiquitin ligase complex	GO:0031463	9.26	KLHL41 KLHL40
5	M band	GO:0031430	9.16	LMOD3 KLHL41
6	A band	GO:0031672	8.96	LMOD3 KLHL40
7	striated muscle thin filament	GO:0005865	8.62	LMOD3 ACTA1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	muscle contraction	GO:0006936	9.37	LMOD3 ACTA1
2	muscle filament sliding	GO:0030049	9.32	NEB ACTA1
3	striated muscle contraction	GO:0006941	9.26	LMOD3 KLHL41
4	myofibril assembly	GO:0030239	9.16	LMOD3 KLHL41
5	skeletal muscle thin filament assembly	GO:0030240	8.96	LMOD3 ACTA1
6	skeletal muscle fiber development	GO:0048741	8.92	LMOD3 KLHL41 KLHL40 ACTA1

Sources

Sources for Severe 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 20-May-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