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

GARD: ¹⁹ 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.

MalaCards based summary: Intermediate Congenital Nemaline Myopathy, also known as intermediate nemaline myopathy, is related to myopathy, congenital, with fiber-type disproportion and hypotonia. An important gene associated with Intermediate Congenital Nemaline Myopathy is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, and related phenotypes are nemaline bodies and severe muscular hypotonia

Orphanet: ⁵⁸ 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.

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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 26)

#	Related Disease	Score	Top Affiliating Genes
1	myopathy, congenital, with fiber-type disproportion	9.9	TPM3 ACTA1
2	hypotonia	9.8	TPM3 ACTA1
3	hyaline body myopathy	9.8	NEB ACTA1
4	myopathy, distal, 1	9.8	NEB ACTA1
5	central core disease of muscle	9.8	NEB ACTA1
6	multiminicore disease	9.8	NEB ACTA1
7	rigid spine muscular dystrophy 1	9.7	NEB ACTA1
8	nemaline myopathy 8	9.7	NEB KLHL41
9	centronuclear myopathy	9.7	NEB ACTA1
10	myofibrillar myopathy	9.7	NEB ACTA1
11	congenital myasthenic syndrome	9.7	NEB ACTA1
12	multiple pterygium syndrome, escobar variant	9.7	NEB KLHL41
13	limb-girdle muscular dystrophy	9.6	NEB ACTA1
14	cardiomyopathy, familial hypertrophic, 1	9.6	NEB ACTA1
15	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	9.5	TPM3 NEB ACTA1
16	nemaline myopathy	9.5	NEB KLHL41 ACTA1
17	severe congenital nemaline myopathy	9.5	NEB KLHL41 ACTA1
18	typical congenital nemaline myopathy	9.5	NEB KLHL41 ACTA1
19	neuromuscular disease	9.5	NEB ACTA1
20	myopathy	9.2	TPM3 NEB KLHL41 ACTA1
21	childhood-onset nemaline myopathy	9.2	TPM3 NEB KLHL41 ACTA1
22	nemaline myopathy 2	9.2	TPM3 NEB KLHL41 ACTA1
23	congenital structural myopathy	9.2	TPM3 NEB KLHL41 ACTA1
24	batten-turner congenital myopathy	9.2	TPM3 NEB KLHL41 ACTA1
25	congenital fiber-type disproportion	9.2	TPM3 NEB KLHL41 ACTA1
26	distal arthrogryposis	9.2	TPM3 NEB KLHL41 ACTA1

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

Sources

Symptoms & Phenotypes for Intermediate Congenital Nemaline Myopathy

Human phenotypes related to Intermediate Congenital Nemaline Myopathy:

⁵⁸ ³⁰ (show all 30)

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

⁴⁵

#	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

Organs/tissues related to Intermediate Congenital Nemaline Myopathy:

MalaCards : Skeletal Muscle

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Publications for Intermediate Congenital Nemaline Myopathy

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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	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	350	Causative germline mutation ⁵⁸
2	KLHL41	Kelch Like Family Member 41	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	24268659
3	NEB	Nebulin	Protein Coding	350	Causative germline mutation ⁵⁸
4	TPM3	Tropomyosin 3	Protein Coding	350	Causative germline mutation ⁵⁸	18382475

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Variations for Intermediate Congenital Nemaline Myopathy

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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	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 2 - plateau phase ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	11.87	TPM3 NEB ACTA1
2	Striated muscle contraction pathway ⁷⁴ Show member pathways Striated Muscle Contraction ⁶⁶	10.67	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	9.62	TPM3 ACTA1
2	stress fiber	GO:0001725	9.56	TPM3 ACTA1
3	actin cytoskeleton	GO:0015629	9.43	TPM3 NEB ACTA1
4	sarcomere	GO:0030017	9.33	NEB ACTA1
5	cytoskeleton	GO:0005856	9.1	TPM3 NEB KLHL41 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	9.26	TPM3 ACTA1
2	skeletal muscle fiber development	GO:0048741	8.92	KLHL41 ACTA1

Sources

Sources for Intermediate Congenital Nemaline Myopathy

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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 NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: INT274 MIFTS: 27	Intermediate Congenital Nemaline Myopathy Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
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Intermediate Congenital Nemaline Myopathy

Aliases & Classifications for Intermediate Congenital Nemaline Myopathy

MalaCards integrated aliases for Intermediate Congenital Nemaline Myopathy:

Characteristics:

Inheritance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Intermediate Congenital Nemaline Myopathy

Related Diseases for Intermediate Congenital Nemaline Myopathy

Diseases in the Nemaline Myopathy family:

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

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

Symptoms & Phenotypes for Intermediate Congenital Nemaline Myopathy

Human phenotypes related to Intermediate Congenital Nemaline Myopathy:

MGI Mouse Phenotypes related to Intermediate Congenital Nemaline Myopathy:

Drugs & Therapeutics for Intermediate Congenital Nemaline Myopathy

Genetic Tests for Intermediate Congenital Nemaline Myopathy

Anatomical Context for Intermediate Congenital Nemaline Myopathy

Organs/tissues related to Intermediate Congenital Nemaline Myopathy:

Publications for Intermediate Congenital Nemaline Myopathy

Genes for Intermediate Congenital Nemaline Myopathy

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

Variations for Intermediate Congenital Nemaline Myopathy

Expression for Intermediate Congenital Nemaline Myopathy

Pathways for Intermediate Congenital Nemaline Myopathy

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

GO Terms for Intermediate Congenital Nemaline Myopathy

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

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

Sources for Intermediate Congenital Nemaline Myopathy