NEM11
MCID: NML024
MIFTS: 32

Nemaline Myopathy 11, Autosomal Recessive (NEM11)

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

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:



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.

Related Diseases for Nemaline Myopathy 11, Autosomal Recessive

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



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:

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

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 29 MYPN

Anatomical Context for Nemaline Myopathy 11, Autosomal Recessive

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
28017374 2017
2
Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands. 61
10838258 2000
3
A follow-up study of congenital non-progressive myopathies. 61
8891237 1996

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

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

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

Sources for Nemaline Myopathy 11, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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