NEM11
MCID: NML024
MIFTS: 23

Nemaline Myopathy 11, Autosomal Recessive (NEM11)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nemaline Myopathy 11, Autosomal Recessive

MalaCards integrated aliases for Nemaline Myopathy 11, Autosomal Recessive:

Name: Nemaline Myopathy 11, Autosomal Recessive 58 12 76 30 6
Nem11 58 12 76
Nemaline Myopathy 11 12 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
nemaline myopathy 11, autosomal recessive:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nemaline Myopathy 11, Autosomal Recessive

OMIM : 58 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 cardiomyopathy and pes cavus

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 : 76 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.

Related Diseases for Nemaline Myopathy 11, Autosomal Recessive

Symptoms & Phenotypes for Nemaline Myopathy 11, Autosomal Recessive

Human phenotypes related to Nemaline Myopathy 11, Autosomal Recessive:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 33 occasional (7.5%) HP:0001638
2 pes cavus 33 occasional (7.5%) HP:0001761
3 scapular winging 33 occasional (7.5%) HP:0003691
4 talipes equinovarus 33 occasional (7.5%) HP:0001762
5 reduced vital capacity 33 occasional (7.5%) HP:0002792
6 pectus excavatum 33 very rare (1%) HP:0000767
7 high palate 33 HP:0000218
8 facial palsy 33 HP:0010628
9 waddling gait 33 HP:0002515
10 nemaline bodies 33 HP:0003798
11 gowers sign 33 HP:0003391

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Nemaline Myopathy 11, Autosomal Recessive

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

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 30 MYPN

Anatomical Context for Nemaline Myopathy 11, Autosomal Recessive

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

42
Bone

Publications for Nemaline Myopathy 11, Autosomal Recessive

Articles related to Nemaline Myopathy 11, Autosomal Recessive:

# Title Authors Year
1
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. ( 28017374 )
2017
2
Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands. ( 10838258 )
2000

Variations for Nemaline Myopathy 11, Autosomal Recessive

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

6 (show all 18)
# 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
11 MYPN NM_032578.3(MYPN): c.3103A> G (p.Met1035Val) single nucleotide variant Uncertain significance rs201975081 GRCh37 Chromosome 10, 69955234: 69955234
12 MYPN NM_032578.3(MYPN): c.3103A> G (p.Met1035Val) single nucleotide variant Uncertain significance rs201975081 GRCh38 Chromosome 10, 68195477: 68195477
13 MYPN NM_032578.3(MYPN): c.1306G> A (p.Val436Met) single nucleotide variant Uncertain significance rs1172083148 GRCh37 Chromosome 10, 69909857: 69909857
14 MYPN NM_032578.3(MYPN): c.1306G> A (p.Val436Met) single nucleotide variant Uncertain significance rs1172083148 GRCh38 Chromosome 10, 68150100: 68150100
15 MYPN NM_032578.3(MYPN): c.1757A> G (p.Asn586Ser) single nucleotide variant Uncertain significance rs550455783 GRCh37 Chromosome 10, 69926207: 69926207
16 MYPN NM_032578.3(MYPN): c.1757A> G (p.Asn586Ser) single nucleotide variant Uncertain significance rs550455783 GRCh38 Chromosome 10, 68166450: 68166450
17 MYPN NM_032578.3(MYPN): c.1518T> G (p.Phe506Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 69925493: 69925493
18 MYPN NM_032578.3(MYPN): c.1518T> G (p.Phe506Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 68165736: 68165736

Expression for Nemaline Myopathy 11, Autosomal Recessive

Search GEO for disease gene expression data 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

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