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

MCID: SVR040 MIFTS: 32	Severe Congenital Nemaline Myopathy Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes 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 ⁵² ⁵⁸

Severe Congenital Nm ⁵²

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 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

NIH Rare Diseases : ⁵² 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Severe Congenital Nemaline Myopathy, also known as severe congenital nm, is related to nemaline myopathy 3 and nemaline myopathy. An important gene associated with Severe Congenital Nemaline Myopathy is NEB (Nebulin), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are dysphagia and polyhydramnios

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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 34)

#	Related Disease	Score	Top Affiliating Genes
1	nemaline myopathy 3	29.9	LMOD3 ACTA1
2	nemaline myopathy	29.9	NEB KLHL41 ACTA1
3	muscular disease	28.7	NEB LMOD3 KLHL40 ACTA1
4	myopathy	28.6	NEB LMOD3 KLHL41 KLHL40 ACTA1
5	myopathy, congenital	27.9	NEB LMOD3 KLHL41 KLHL40 ACTA1
6	congenital nemaline myopathy	10.5
7	hypotonia	10.2
8	minicore myopathy with external ophthalmoplegia	10.1
9	nemaline myopathy 2	10.1
10	alkuraya-kucinskas syndrome	10.1
11	neuromuscular disease	10.1
12	muscular dystrophy	10.1
13	malignant hyperthermia susceptibility	10.1
14	lymphangiectasis	10.1
15	congenital amyoplasia	10.1
16	foot drop	9.9	NEB ACTA1
17	myopathy, spheroid body	9.9	NEB LMOD3
18	central core myopathy	9.8	NEB ACTA1
19	nemaline myopathy 11, autosomal recessive	9.8	LMOD3 KLHL40
20	reducing body myopathy	9.7	NEB KLHL40
21	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	9.7	NEB ACTA1
22	myofibrillar myopathy	9.5	NEB ACTA1
23	centronuclear myopathy	9.5	NEB KLHL40 ACTA1
24	intermediate congenital nemaline myopathy	9.4	NEB KLHL41 ACTA1
25	childhood-onset nemaline myopathy	9.4	NEB KLHL41 ACTA1
26	nemaline myopathy 9	9.2	LMOD3 KLHL41 KLHL40
27	respiratory failure	9.2	LMOD3 KLHL40 ACTA1
28	nemaline myopathy 8	9.2	LMOD3 KLHL41 KLHL40
29	nemaline myopathy 10	9.2	LMOD3 KLHL41 KLHL40
30	distal arthrogryposis	9.1	NEB LMOD3 KLHL40 ACTA1
31	typical congenital nemaline myopathy	9.0	NEB LMOD3 KLHL41 ACTA1
32	multiple pterygium syndrome, escobar variant	8.9	NEB LMOD3 KLHL41 KLHL40
33	congenital structural myopathy	8.5	NEB LMOD3 KLHL41 KLHL40 ACTA1
34	congenital fiber-type disproportion	8.5	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	polyhydramnios ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001561
3	skeletal muscle atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003202
4	motor delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001270
5	type 1 muscle fiber predominance ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003803
6	nemaline bodies ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003798
7	respiratory failure ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002878
8	decreased fetal movement ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001558
9	severe muscular hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0006829
10	hypokinesia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002375
11	increased connective tissue ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009025
12	breech presentation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001623
13	axial muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003327
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	arthrogryposis multiplex congenita ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002804
17	ophthalmoplegia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000602
18	thin ribs ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000883
19	hypospadias ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000047
20	micropenis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000054
21	adducted thumb ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001181
22	large fontanelles ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000239
23	premature birth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001622
24	abnormality of the diaphragm ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000775
25	facial diplegia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001349
26	pulmonary hypoplasia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002089
27	edema of the dorsum of hands ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007514
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:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.55	ACTA1 KLHL40 KLHL41 LMOD3 NEB
2	mortality/aging	MP:0010768	9.35	ACTA1 KLHL40 KLHL41 LMOD3 NEB
3	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:

#	Title	Authors	PMID	Year
1	Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. ⁶	Ravenscroft G...Laing NG	23746549	2013
2	Nemaline Myopathy ⁶	North KN...Ryan MM	20301465	2002
3	[Clinical features and gene mutation analysis of severe congenital nemaline myopathy in one neonate]. ⁶¹	Hu XW...Gao JM	31104670	2019
4	Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. ⁶¹	Sandaradura SA...Cooper ST	29266598	2018
5	Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. ⁶¹	Waisayarat J...Rochanawutanon M	25890230	2015
6	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
7	Mutations in the nebulin gene can cause severe congenital nemaline myopathy. ⁶¹	Wallgren-Pettersson C...Pelin K	12207937	2002
8	Severe congenital nemaline myopathy: a personal perspective. ⁶¹	Marinone K	9526359	1998
9	A new case of severe congenital nemaline myopathy. ⁶¹	Buonocore G...Bagnoli F	8155933	1993
10	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
1	NEB	Nebulin	Protein Coding	357.26	Causative germline mutation ⁵⁸ GeneCards inferred via : Publications (show sections)
2	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	350	Causative germline mutation ⁵⁸
3	KLHL40	Kelch Like Family Member 40	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
4	KLHL41	Kelch Like Family Member 41	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
5	LMOD3	Leiomodin 3	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸

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Variations for Severe Congenital Nemaline Myopathy

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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 ⁶⁵ ¹	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

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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 GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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 MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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 TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia