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

MCID: SVR040 MIFTS: 35	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 ⁵⁴ ⁶⁰

Severe Congenital Nm ⁵⁴

Characteristics:

Orphanet epidemiological data:

⁶⁰

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: ³⁵

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³⁵ G71.2

Orphanet ⁶⁰ ORPHA171430

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Summaries for Severe Congenital Nemaline Myopathy

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171430Disease definitionSevere congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.EpidemiologyThe 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 descriptionNeonates 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.EtiologyThe ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of NM.Genetic counselingNM 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 myopathy 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 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

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

#	Related Disease	Score	Top Affiliating Genes
1	myopathy	29.6	ACTA1 KLHL40 LMOD3 NEB
2	nemaline myopathy	29.0	ACTA1 KLHL40 KLHL41 LMOD3 NEB
3	foot drop	9.9	ACTA1 NEB
4	myopathy, congenital	9.9	ACTA1 NEB
5	myofibrillar myopathy	9.8	ACTA1 NEB
6	muscular disease	9.7	ACTA1 NEB
7	intermediate congenital nemaline myopathy	9.6	ACTA1 KLHL41 NEB
8	childhood-onset nemaline myopathy	9.6	ACTA1 KLHL41 NEB
9	typical congenital nemaline myopathy	9.3	ACTA1 KLHL41 LMOD3 NEB
10	congenital structural myopathy	8.9	ACTA1 KLHL40 KLHL41 LMOD3 NEB

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:

⁶⁰ ³³ (show all 30)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dysphagia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002015
2	skeletal muscle atrophy ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0003202
3	motor delay ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001270
4	type 1 muscle fiber predominance ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0003803
5	nemaline bodies ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0003798
6	respiratory failure ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002878
7	polyhydramnios ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001561
8	decreased fetal movement ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001558
9	hypokinesia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002375
10	increased connective tissue ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0009025
11	breech presentation ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001623
12	axial muscle weakness ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0003327
13	multiple prenatal fractures ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0005855
14	severe muscular hypotonia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0006829
15	low-set ears ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000369
16	arthrogryposis multiplex congenita ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002804
17	ophthalmoplegia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000602
18	thin ribs ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000883
19	hypospadias ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000047
20	adducted thumb ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001181
21	large fontanelles ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000239
22	premature birth ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001622
23	micropenis ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000054
24	abnormality of the diaphragm ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000775
25	facial diplegia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001349
26	pulmonary hypoplasia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002089
27	edema of the dorsum of hands ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0007514
28	facial palsy ⁶⁰		Frequent (79-30%)
29	flexion contracture ⁶⁰		Frequent (79-30%)
30	abnormality of the thorax ⁶⁰		Frequent (79-30%)

MGI Mouse Phenotypes related to Severe Congenital Nemaline Myopathy:

⁴⁷

#	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:

⁴²

Skeletal Muscle

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Publications for Severe Congenital Nemaline Myopathy

Articles related to Severe Congenital Nemaline Myopathy:

#	Title	Authors	Year
1	Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. ( 25890230 )	Waisayarat J....Rochanawutanon M.	2015
2	Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. ( 22407809 )	Kondo E....Saito K.	2012
3	Mutations in the nebulin gene can cause severe congenital nemaline myopathy. ( 12207937 )	Wallgren-Pettersson C....Pelin K.	2002
4	Severe congenital nemaline myopathy: a personal perspective. ( 9526359 )	Marinone K.	1998
5	Intranuclear rods in severe congenital nemaline myopathy. ( 8232959 )	Rifai Z....Griggs R.C.	1993
6	A new case of severe congenital nemaline myopathy. ( 8155933 )	Buonocore G....Bagnoli F.	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	367.32	Causative germline mutation ⁶⁰ GeneCards inferred via : Publications (show sections)
2	LMOD3	Leiomodin 3	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
3	KLHL41	Kelch Like Family Member 41	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
4	KLHL40	Kelch Like Family Member 40	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
5	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	350	Causative germline mutation ⁶⁰

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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 ¹ ⁶⁷	10.48	ACTA1 NEB

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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	cytoplasm	GO:0005737	9.85	ACTA1 KLHL40 KLHL41 LMOD3 NEB
2	cytoskeleton	GO:0005856	9.62	ACTA1 KLHL41 LMOD3 NEB
3	actin cytoskeleton	GO:0015629	9.43	ACTA1 NEB
4	sarcomere	GO:0030017	9.4	ACTA1 NEB
5	myofibril	GO:0030016	9.37	LMOD3 NEB
6	Cul3-RING ubiquitin ligase complex	GO:0031463	9.26	KLHL40 KLHL41
7	M band	GO:0031430	9.16	KLHL41 LMOD3
8	striated muscle thin filament	GO:0005865	8.96	ACTA1 LMOD3
9	A band	GO:0031672	8.62	KLHL40 LMOD3

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	ACTA1 LMOD3
2	muscle filament sliding	GO:0030049	9.32	ACTA1 NEB
3	striated muscle contraction	GO:0006941	9.26	KLHL41 LMOD3
4	skeletal muscle thin filament assembly	GO:0030240	9.16	ACTA1 LMOD3
5	myofibril assembly	GO:0030239	8.96	KLHL41 LMOD3
6	skeletal muscle fiber development	GO:0048741	8.92	ACTA1 KLHL40 KLHL41 LMOD3

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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

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia