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 ⁷⁵ ²⁹ ⁶

Nem11 ⁵⁷ ¹² ⁷⁵

Nemaline Myopathy 11 ¹² ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617336

Disease Ontology ¹² DOID:0110933

MedGen ⁴² C4479186 CN240509

MeSH ⁴⁴ D017696

SNOMED-CT via HPO ⁶⁹ 258211005 27272007 391987005 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)

MalaCards based summary : Nemaline Myopathy 11, Autosomal Recessive, is also known as nem11. An important gene associated with Nemaline Myopathy 11, Autosomal Recessive is MYPN (Myopalladin). Affiliated tissues include bone, and related phenotypes are pectus excavatum and high palate

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 : ⁷⁵ 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

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Symptoms & Phenotypes for Nemaline Myopathy 11, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Mouth:
high-arched palate

Growth Other:
thin habitus

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

Head And Neck Neck:
neck weakness

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

Head And Neck Face:
facial muscle weakness

Laboratory Abnormalities:
normal serum creatine kinase

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

Human phenotypes related to Nemaline Myopathy 11, Autosomal Recessive:

³² (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	pectus excavatum ³²	very rare (1%)	HP:0000767
2	high palate ³²		HP:0000218
3	facial palsy ³²		HP:0010628
4	cardiomyopathy ³²	occasional (7.5%)	HP:0001638
5	pes cavus ³²	occasional (7.5%)	HP:0001761
6	waddling gait ³²		HP:0002515
7	scapular winging ³²	occasional (7.5%)	HP:0003691
8	talipes equinovarus ³²	occasional (7.5%)	HP:0001762
9	nemaline bodies ³²		HP:0003798
10	reduced vital capacity ³²	occasional (7.5%)	HP:0002792
11	gowers sign ³²		HP:0003391

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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

MalaCards organs/tissues related to Nemaline Myopathy 11, Autosomal Recessive:

⁴¹

Bone

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Publications for Nemaline Myopathy 11, Autosomal Recessive

Articles related to Nemaline Myopathy 11, Autosomal Recessive:

#	Title	Authors	Year
1	Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands. ( 10838258 )		2000

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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	PubmedIds
1	MYPN	Myopalladin	Protein Coding	1018.65	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	28017374
2	LOC107984240	Uncharacterized LOC107984240	RNA Gene	7.84	GeneCards inferred via : Variants (show sections)

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Variations for Nemaline Myopathy 11, Autosomal Recessive

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

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MYPN	NM_032578.3(MYPN): c.2003delA (p.Asn668Thrfs)	deletion	Pathogenic	rs1057519570	GRCh38	Chromosome 10, 68174095: 68174095
2	MYPN	NM_032578.3(MYPN): c.2003delA (p.Asn668Thrfs)	deletion	Pathogenic	rs1057519570	GRCh37	Chromosome 10, 69933852: 69933852
3	MYPN	NM_032578.3(MYPN): c.3076-2A> C	single nucleotide variant	Pathogenic	rs1057519571	GRCh38	Chromosome 10, 68195448: 68195448
4	MYPN	NM_032578.3(MYPN): c.3076-2A> C	single nucleotide variant	Pathogenic	rs1057519571	GRCh37	Chromosome 10, 69955205: 69955205
5	MYPN	NM_032578.3(MYPN): c.1129C> T (p.Arg377Ter)	single nucleotide variant	Pathogenic	rs781261060	GRCh37	Chromosome 10, 69905282: 69905282
6	MYPN	NM_032578.3(MYPN): c.1129C> T (p.Arg377Ter)	single nucleotide variant	Pathogenic	rs781261060	GRCh38	Chromosome 10, 68145525: 68145525
7	MYPN	NM_032578.3(MYPN): c.3169C> T (p.Arg1057Ter)	single nucleotide variant	Uncertain significance	rs1057519572	GRCh37	Chromosome 10, 69957119: 69957119
8	MYPN	NM_032578.3(MYPN): c.3169C> T (p.Arg1057Ter)	single nucleotide variant	Uncertain significance	rs1057519572	GRCh38	Chromosome 10, 68197362: 68197362
9	MYPN	NM_032578.3(MYPN): c.3214C> T (p.Arg1072Ter)	single nucleotide variant	Pathogenic	rs1057519573	GRCh37	Chromosome 10, 69957164: 69957164
10	MYPN	NM_032578.3(MYPN): c.3214C> T (p.Arg1072Ter)	single nucleotide variant	Pathogenic	rs1057519573	GRCh38	Chromosome 10, 68197407: 68197407

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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

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Sources for Nemaline Myopathy 11, Autosomal Recessive

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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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:

Symptoms & Phenotypes for Nemaline Myopathy 11, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human 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

MalaCards organs/tissues related to 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

Sources for Nemaline Myopathy 11, Autosomal Recessive