Nemaline Myopathy 11, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Nemaline Myopathy 11, Autosomal Recessive

MalaCards integrated aliases for Nemaline Myopathy 11, Autosomal Recessive:

Name: Nemaline Myopathy 11, Autosomal Recessive ⁵⁷ ¹² ⁷² ²⁹ ⁶

Nemaline Myopathy 11 ¹² ⁷² ¹⁵

Nem11 ⁵⁷ ¹² ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in first decade
four unrelated japanese patients have been reported (last curated february 2017)

HPO:

³¹

nemaline myopathy 11, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110933

OMIM® ⁵⁷ 617336

OMIM Phenotypic Series ⁵⁷ PS161800

MeSH ⁴⁴ D017696

MedGen ⁴¹ C4479186 CN240509

SNOMED-CT via HPO ⁶⁸ 17211005 193093009 205091006 more

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Summaries for Nemaline Myopathy 11, Autosomal Recessive

OMIM® : ⁵⁷ NEM11 is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by Miyatake et al., 2017). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). (617336) (Updated 20-May-2021)

MalaCards based summary : Nemaline Myopathy 11, Autosomal Recessive, also known as nemaline myopathy 11, is related to myopathy and nemaline myopathy. An important gene associated with Nemaline Myopathy 11, Autosomal Recessive is MYPN (Myopalladin). Related phenotypes are scapular winging and talipes equinovarus

Disease Ontology : ¹² A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has material basis in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21.

UniProtKB/Swiss-Prot : ⁷² Nemaline myopathy 11: An autosomal recessive form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM11 is characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure.

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Related Diseases for Nemaline Myopathy 11, Autosomal Recessive

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 Nemaline Myopathy 11, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	myopathy	29.4	MYPN LMOD3 KLHL41 KBTBD13
2	nemaline myopathy	10.0
3	myopathy, spheroid body	9.9	MYPN LMOD3
4	typical congenital nemaline myopathy	9.8	LMOD3 KLHL41
5	childhood-onset nemaline myopathy	9.8	MYPN KLHL41 KBTBD13
6	severe congenital nemaline myopathy	9.7	LMOD3 KLHL41
7	nemaline myopathy 3	9.7	LMOD3 KLHL41 KBTBD13
8	batten-turner congenital myopathy	9.7	LMOD3 KLHL41 KBTBD13
9	congenital fiber-type disproportion	9.7	LMOD3 KLHL41 KBTBD13
10	multiple pterygium syndrome, escobar variant	9.6	LMOD3 KLHL41
11	nemaline myopathy 2	9.5	MYPN LMOD3 KLHL41 KBTBD13
12	congenital structural myopathy	9.5	MYPN LMOD3 KLHL41 KBTBD13
13	nemaline myopathy 8	9.0	MYBPC2 LMOD3 KLHL9 KBTBD13 DNPEP
14	nemaline myopathy 10	8.7	MYPN LMOD3 KLHL9 KLHL41 KBTBD13 DNPEP
15	nemaline myopathy 9	8.7	MYBPC2 LMOD3 KLHL9 KLHL41 KBTBD13 DNPEP

Graphical network of the top 20 diseases related to Nemaline Myopathy 11, Autosomal Recessive:

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Symptoms & Phenotypes for Nemaline Myopathy 11, Autosomal Recessive

Human phenotypes related to Nemaline Myopathy 11, Autosomal Recessive:

³¹ (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	scapular winging ³¹	occasional (7.5%)	HP:0003691
2	talipes equinovarus ³¹	occasional (7.5%)	HP:0001762
3	pes cavus ³¹	occasional (7.5%)	HP:0001761
4	cardiomyopathy ³¹	occasional (7.5%)	HP:0001638
5	reduced vital capacity ³¹	occasional (7.5%)	HP:0002792
6	pectus excavatum ³¹	very rare (1%)	HP:0000767
7	facial palsy ³¹		HP:0010628
8	high palate ³¹		HP:0000218
9	waddling gait ³¹		HP:0002515
10	nemaline bodies ³¹		HP:0003798
11	gowers sign ³¹		HP:0003391

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Muscle Soft Tissue:
gowers sign
type 1 fiber predominance
lower limbs more severely affected than upper limbs
fiber size variation seen on muscle biopsy
muscle weakness, mainly proximal
more

Head And Neck Face:
facial muscle weakness

Laboratory Abnormalities:
normal serum creatine kinase

Head And Neck Neck:
neck weakness

Skeletal Feet:
pes cavus (1 patient)
pes equinus (1 patient)

Head And Neck Mouth:
high-arched palate

Growth Other:
thin habitus

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (1 patient)
winged scapulae (1 patient)

Cardiovascular Heart:
cardiomyopathy (in some patients)
cardiac hypokinesia (in some patients)

Respiratory:
decreased vital capacity (in some patients)

Clinical features from OMIM®:

617336 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Nemaline Myopathy 11, Autosomal Recessive:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	8.92	KBTBD13 KLHL41 LMOD3 MYPN

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Drugs & Therapeutics for Nemaline Myopathy 11, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 11, Autosomal Recessive

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Genetic Tests for Nemaline Myopathy 11, Autosomal Recessive

Genetic tests related to Nemaline Myopathy 11, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Nemaline Myopathy 11, Autosomal Recessive ²⁹	MYPN

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Anatomical Context for Nemaline Myopathy 11, Autosomal Recessive

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Publications for Nemaline Myopathy 11, Autosomal Recessive

Articles related to Nemaline Myopathy 11, Autosomal Recessive:

#	Title	Authors	PMID	Year
1	Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. ⁶ ⁵⁷	Miyatake S...Matsumoto N	28017374	2017
2	Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands. ⁶¹	Wallgren-Pettersson C...Laing NG	10838258	2000
3	A follow-up study of congenital non-progressive myopathies. ⁶¹	Akiyama C...Nonaka I	8891237	1996

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Genes for Nemaline Myopathy 11, Autosomal Recessive

Genes related to Nemaline Myopathy 11, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MYPN	Myopalladin	Protein Coding	1013.66	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	28017374
2	KBTBD13	Kelch Repeat And BTB Domain Containing 13	Protein Coding	6.85	DISEASES inferred ¹⁵
3	ALG11	ALG11 Alpha-1,2-Mannosyltransferase	Protein Coding	6.55	DISEASES inferred ¹⁵
4	KLHL9	Kelch Like Family Member 9	Protein Coding	5.53	DISEASES inferred ¹⁵
5	LMOD3	Leiomodin 3	Protein Coding	5.5	DISEASES inferred ¹⁵
6	DNPEP	Aspartyl Aminopeptidase	Protein Coding	5.48	DISEASES inferred ¹⁵
7	MYBPC2	Myosin Binding Protein C2	Protein Coding	5.47	DISEASES inferred ¹⁵
8	KLHL41	Kelch Like Family Member 41	Protein Coding	5.34	DISEASES inferred ¹⁵

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Variations for Nemaline Myopathy 11, Autosomal Recessive

ClinVar genetic disease variations for Nemaline Myopathy 11, Autosomal Recessive:

⁶ (show all 11)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MYPN	NM_032578.4(MYPN):c.3214C>T (p.Arg1072Ter)	SNV	Pathogenic	375568	rs1057519573	GRCh37: 10:69957164-69957164 GRCh38: 10:68197407-68197407
2	MYPN	NM_032578.4(MYPN):c.1129C>T (p.Arg377Ter)	SNV	Pathogenic	375566	rs781261060	GRCh37: 10:69905282-69905282 GRCh38: 10:68145525-68145525
3	MYPN	NM_032578.4(MYPN):c.2003del (p.Asn668fs)	Deletion	Pathogenic	375564	rs1057519570	GRCh37: 10:69933851-69933851 GRCh38: 10:68174094-68174094
4	MYPN	NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter)	SNV	Pathogenic	375567	rs1057519572	GRCh37: 10:69957119-69957119 GRCh38: 10:68197362-68197362
5	MYPN	NM_032578.3(MYPN):c.3076-2A>C	SNV	Pathogenic	375565	rs1057519571	GRCh37: 10:69955205-69955205 GRCh38: 10:68195448-68195448
6	MYPN	NM_032578.4(MYPN):c.1306G>A (p.Val436Met)	SNV	Uncertain significance	477738	rs1172083148	GRCh37: 10:69909857-69909857 GRCh38: 10:68150100-68150100
7	MYPN	NM_032578.4(MYPN):c.1518T>G (p.Phe506Leu)	SNV	Uncertain significance	566151	rs780297988	GRCh37: 10:69925493-69925493 GRCh38: 10:68165736-68165736
8	MYPN	NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser)	SNV	Uncertain significance	517602	rs550455783	GRCh37: 10:69926207-69926207 GRCh38: 10:68166450-68166450
9	MYPN	NM_032578.4(MYPN):c.3103A>G (p.Met1035Val)	SNV	Uncertain significance	431886	rs201975081	GRCh37: 10:69955234-69955234 GRCh38: 10:68195477-68195477
10	MYPN	NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter)	SNV	Uncertain significance	375567	rs1057519572	GRCh37: 10:69957119-69957119 GRCh38: 10:68197362-68197362
11	MYPN	NM_032578.4(MYPN):c.3756_3757insA (p.Gly1253fs)	Insertion	Uncertain significance	841095		GRCh37: 10:69966623-69966624 GRCh38: 10:68206866-68206867

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Expression for Nemaline Myopathy 11, Autosomal Recessive

Search GEO for disease gene expression data for Nemaline Myopathy 11, Autosomal Recessive.

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Pathways for Nemaline Myopathy 11, Autosomal Recessive

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GO Terms for Nemaline Myopathy 11, Autosomal Recessive

Cellular components related to Nemaline Myopathy 11, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Cul3-RING ubiquitin ligase complex	GO:0031463	8.96	KLHL9 KLHL41
2	M band	GO:0031430	8.62	LMOD3 KLHL41

Biological processes related to Nemaline Myopathy 11, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein ubiquitination	GO:0016567	9.58	KLHL9 KLHL41 KBTBD13
2	post-translational protein modification	GO:0043687	9.5	KLHL9 KLHL41 KBTBD13
3	actin filament organization	GO:0007015	9.43	LMOD3 KBTBD13
4	muscle contraction	GO:0006936	9.37	MYBPC2 LMOD3
5	sarcomere organization	GO:0045214	9.26	MYPN KLHL41
6	skeletal muscle fiber development	GO:0048741	9.16	LMOD3 KLHL41
7	striated muscle contraction	GO:0006941	8.96	LMOD3 KLHL41
8	myofibril assembly	GO:0030239	8.62	LMOD3 KLHL41

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⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Nemaline Myopathy 11, Autosomal Recessive (NEM11)

Aliases & Classifications for Nemaline Myopathy 11, Autosomal Recessive

MalaCards integrated aliases for Nemaline Myopathy 11, Autosomal Recessive:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Nemaline Myopathy 11, Autosomal Recessive

Related Diseases for Nemaline Myopathy 11, Autosomal Recessive

Diseases in the Nemaline Myopathy family:

Diseases related to Nemaline Myopathy 11, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Nemaline Myopathy 11, Autosomal Recessive:

Symptoms & Phenotypes for Nemaline Myopathy 11, Autosomal Recessive

Human phenotypes related to Nemaline Myopathy 11, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Nemaline Myopathy 11, Autosomal Recessive:

Drugs & Therapeutics for Nemaline Myopathy 11, Autosomal Recessive

Genetic Tests for Nemaline Myopathy 11, Autosomal Recessive

Genetic tests related to Nemaline Myopathy 11, Autosomal Recessive:

Anatomical Context for Nemaline Myopathy 11, Autosomal Recessive

Publications for Nemaline Myopathy 11, Autosomal Recessive

Articles related to Nemaline Myopathy 11, Autosomal Recessive:

Genes for Nemaline Myopathy 11, Autosomal Recessive

Genes related to Nemaline Myopathy 11, Autosomal Recessive (1 elite genes):

Variations for Nemaline Myopathy 11, Autosomal Recessive

ClinVar genetic disease variations for Nemaline Myopathy 11, Autosomal Recessive:

Expression for Nemaline Myopathy 11, Autosomal Recessive

Pathways for Nemaline Myopathy 11, Autosomal Recessive

GO Terms for Nemaline Myopathy 11, Autosomal Recessive

Cellular components related to Nemaline Myopathy 11, Autosomal Recessive according to GeneCards Suite gene sharing:

Biological processes related to Nemaline Myopathy 11, Autosomal Recessive according to GeneCards Suite gene sharing:

Sources for Nemaline Myopathy 11, Autosomal Recessive