NEM11
MCID: NML024
MIFTS: 36

Nemaline Myopathy 11, Autosomal Recessive (NEM11)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Nemaline Myopathy 11, Autosomal Recessive

MalaCards integrated aliases for Nemaline Myopathy 11, Autosomal Recessive:

Name: Nemaline Myopathy 11, Autosomal Recessive 57 11 73 5 38
Nemaline Myopathy 11 11 73 14
Nem11 57 11 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
slowly progressive
onset in first decade
four unrelated japanese patients have been reported (last curated february 2017)


HPO:

30
nemaline myopathy 11, autosomal recessive:
Onset and clinical course slowly progressive


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 08-Dec-2022)

MalaCards based summary: Nemaline Myopathy 11, Autosomal Recessive, also known as nemaline myopathy 11, is related to myopathy and myopathy, myofibrillar, 4. An important gene associated with Nemaline Myopathy 11, Autosomal Recessive is MYPN (Myopalladin), and among its related pathways/superpathways are O-linked glycosylation of mucins and protein N-glycosylation initial phase (eukaryotic). Affiliated tissues include skeletal muscle, heart and heart-ventricle, and related phenotypes are high palate and pectus excavatum

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 myopathy 29.6 MYPN MYOT LMOD3 KLHL40 B3GNT2
2 myopathy, myofibrillar, 4 10.2 MYPN MYOT
3 muscular dystrophy-dystroglycanopathy , type c, 4 10.1 MYOT B3GNT2
4 congenital disorder of glycosylation, type iia 10.1 B3GNT2 ALG11
5 myopathy, areflexia, respiratory distress, and dysphagia, early-onset 10.1 MYMK B3GNT2
6 myopathy, myofibrillar, 3 10.1 MYPN MYOT
7 severe congenital nemaline myopathy 10.1 LMOD3 KLHL40
8 spinal muscular atrophy type 0 10.1 LMOD3 KLHL40
9 myopathy, myofibrillar, 9, with early respiratory failure 10.1 MYPN MYOT
10 nemaline myopathy 9 10.1 LMOD3 KLHL40
11 locked-in syndrome 10.1 LMOD3 KLHL40
12 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 10.1 MYMK KLHL40
13 myopathy, myofibrillar, 1 10.0 MYPN MYOT
14 myopathy, spheroid body 10.0 MYPN MYOT LMOD3
15 nemaline myopathy 10.0
16 tibial muscular dystrophy 10.0 MYPN MYOT
17 nemaline myopathy 8 10.0 MYPN LMOD3 KLHL40
18 rigid spine muscular dystrophy 1 10.0 MYOT MYMK B3GNT2
19 nemaline myopathy 2 10.0 MYPN LMOD3 KLHL40
20 myofibrillar myopathy 10.0 MYPN MYOT KLHL40
21 cardiomyopathy, dilated, 1g 10.0 POMK MYOT
22 muscular dystrophy-dystroglycanopathy 9.9 POMK POMGNT2
23 congenital muscular dystrophy-dystroglycanopathy type a3 9.9 POMK POMGNT2
24 muscular disease 9.9 POMGNT2 MYOT B3GNT2
25 cobblestone lissencephaly 9.9 POMK POMGNT2
26 congenital myasthenic syndrome 9.9 MYOT KLHL40 ALG11
27 muscular dystrophy-dystroglycanopathy , type c, 3 9.9 POMK POMGNT2
28 congenital structural myopathy 9.8 MYPN MYOT LMOD3 KLHL40
29 respiratory failure 9.8 MYPN LMOD3 KLHL40
30 muscular dystrophy-dystroglycanopathy , type b, 5 9.8 POMK POMGNT2 B3GNT2
31 muscular dystrophy-dystroglycanopathy , type b, 1 9.8 POMK POMGNT2 B3GNT2
32 congenital muscular dystrophy-dystroglycanopathy type a 9.8 POMK POMGNT2 B3GNT2
33 muscular dystrophy-dystroglycanopathy , type c, 5 9.8 POMK POMGNT2 B3GNT2
34 muscular dystrophy-dystroglycanopathy , type a, 4 9.8 POMK POMGNT2 B3GNT2
35 distal hereditary motor neuronopathy type 2 9.8 LMOD3 KLHL40
36 lissencephaly 9.7 POMK POMGNT2 B3GNT2
37 muscular dystrophy, limb-girdle, autosomal recessive 2 9.7 POMK POMGNT2 MYOT
38 muscle eye brain disease 9.7 POMK POMGNT2
39 batten-turner congenital myopathy 9.6 MYPN MYOT MYMK LMOD3 KLHL40
40 autosomal recessive limb-girdle muscular dystrophy 9.6 POMK POMGNT2 MYOT B3GNT2
41 limb-girdle muscular dystrophy 9.6 POMK POMGNT2 MYOT B3GNT2
42 congenital fiber-type disproportion 9.6 MYOT MYMK LMOD3 KLHL40 B3GNT2
43 cardiomyopathy, familial hypertrophic, 9 9.6 POMK POMGNT2 MYMK B3GNT2
44 rippling muscle disease 2 9.6 POMK POMGNT2 MYMK B3GNT2
45 muscular dystrophy, congenital, lmna-related 9.5 POMK POMGNT2 MYPN MYOT B3GNT2
46 walker-warburg syndrome 9.5 POMK POMGNT2 MYOT B3GNT2 ALG11
47 cardiomyopathy, dilated, 1kk 9.5 POMK POMGNT2 MYPN MYMK B3GNT2
48 cardiomyopathy, familial hypertrophic, 1 9.5 POMK POMGNT2 MYPN MYMK B3GNT2
49 neuronopathy, distal hereditary motor, type iia 9.3 PAXBP1 MYPOP LMOD3 KLHL40 AKIRIN1
50 nemaline myopathy 10 9.3 PAXBP1 MYPOP MYPN LMOD3 KLHL40 ALG11

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:

30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 30 Very rare (1%) HP:0000218
2 pectus excavatum 30 Very rare (1%) HP:0000767
3 waddling gait 30 Very rare (1%) HP:0002515
4 scapular winging 30 Very rare (1%) HP:0003691
5 talipes equinovarus 30 Very rare (1%) HP:0001762
6 type 1 muscle fiber predominance 30 Very rare (1%) HP:0003803
7 nemaline bodies 30 Very rare (1%) HP:0003798
8 pes cavus 30 Very rare (1%) HP:0001761
9 gowers sign 30 Very rare (1%) HP:0003391
10 cardiomyopathy 30 Very rare (1%) HP:0001638
11 first degree atrioventricular block 30 Very rare (1%) HP:0011705
12 reduced vital capacity 30 Very rare (1%) HP:0002792
13 facial palsy 30 HP:0010628

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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

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

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

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

Head And Neck Mouth:
high-arched palate

Growth Other:
thin habitus

Laboratory Abnormalities:
normal serum creatine kinase

Head And Neck Neck:
neck weakness

Respiratory:
decreased vital capacity (in some patients)

Clinical features from OMIM®:

617336 (Updated 08-Dec-2022)

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

Anatomical Context for Nemaline Myopathy 11, Autosomal Recessive

Organs/tissues related to Nemaline Myopathy 11, Autosomal Recessive:

MalaCards : Skeletal Muscle, Heart
ODiseA: Skeletal Muscle, Heart-Ventricle, Heart

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. 57 5
28017374 2017
2
Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands. 62
10838258 2000
3
A follow-up study of congenital non-progressive myopathies. 62
8891237 1996

Variations for Nemaline Myopathy 11, Autosomal Recessive

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

5 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYPN NM_032578.4(MYPN):c.1129C>T (p.Arg377Ter) SNV Pathogenic
375566 rs781261060 GRCh37: 10:69905282-69905282
GRCh38: 10:68145525-68145525
2 MYPN NM_032578.4(MYPN):c.2003del (p.Asn668fs) DEL Pathogenic
375564 rs1057519570 GRCh37: 10:69933851-69933851
GRCh38: 10:68174094-68174094
3 MYPN NM_032578.4(MYPN):c.3076-2A>C SNV Pathogenic
375565 rs1057519571 GRCh37: 10:69955205-69955205
GRCh38: 10:68195448-68195448
4 MYPN NM_032578.4(MYPN):c.3214C>T (p.Arg1072Ter) SNV Pathogenic
375568 rs1057519573 GRCh37: 10:69957164-69957164
GRCh38: 10:68197407-68197407
5 MYPN NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter) SNV Pathogenic
31818 rs199476412 GRCh37: 10:69935168-69935168
GRCh38: 10:68175411-68175411
6 MYPN NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter) SNV Pathogenic
Uncertain Significance
375567 rs1057519572 GRCh37: 10:69957119-69957119
GRCh38: 10:68197362-68197362
7 MYPN NM_032578.4(MYPN):c.1306G>A (p.Val436Met) SNV Uncertain Significance
477738 rs1172083148 GRCh37: 10:69909857-69909857
GRCh38: 10:68150100-68150100
8 MYPN NM_032578.4(MYPN):c.1518T>G (p.Phe506Leu) SNV Uncertain Significance
566151 rs780297988 GRCh37: 10:69925493-69925493
GRCh38: 10:68165736-68165736
9 MYPN NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser) SNV Uncertain Significance
517602 rs550455783 GRCh37: 10:69926207-69926207
GRCh38: 10:68166450-68166450
10 MYPN NM_032578.4(MYPN):c.3103A>G (p.Met1035Val) SNV Uncertain Significance
431886 rs201975081 GRCh37: 10:69955234-69955234
GRCh38: 10:68195477-68195477
11 MYPN NM_032578.4(MYPN):c.3756_3757insA (p.Gly1253fs) INSERT Uncertain Significance
841095 rs2043824248 GRCh37: 10:69966623-69966624
GRCh38: 10:68206866-68206867
12 MYPN NM_032578.4(MYPN):c.3075+21G>A SNV Benign
671146 rs7081213 GRCh37: 10:69954290-69954290
GRCh38: 10:68194533-68194533
13 MYPN NM_032578.4(MYPN):c.2565-21A>G SNV Benign
1284076 GRCh37: 10:69935059-69935059
GRCh38: 10:68175302-68175302
14 MYPN NM_032578.4(MYPN):c.2703+17T>C SNV Benign
138419 rs6480306 GRCh37: 10:69935235-69935235
GRCh38: 10:68175478-68175478
15 MYPN NM_032578.4(MYPN):c.3286-28G>T SNV Benign
671151 rs7079549 GRCh37: 10:69959097-69959097
GRCh38: 10:68199340-68199340
16 MYPN NM_032578.4(MYPN):c.1647T>C (p.Ser549=) SNV Benign
31795 rs2673794 GRCh37: 10:69926097-69926097
GRCh38: 10:68166340-68166340
17 MYPN NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) SNV Benign
31797 rs10997975 GRCh37: 10:69933921-69933921
GRCh38: 10:68174164-68174164
18 MYPN NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn) SNV Benign
31798 rs7916821 GRCh37: 10:69933969-69933969
GRCh38: 10:68174212-68174212
19 MYPN NM_032578.4(MYPN):c.2886T>C (p.Val962=) SNV Benign
31799 rs10733838 GRCh37: 10:69948844-69948844
GRCh38: 10:68189087-68189087
20 MYPN NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) SNV Benign
31800 rs7079481 GRCh37: 10:69959242-69959242
GRCh38: 10:68199485-68199485
21 MYPN NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) SNV Benign
31804 rs10823148 GRCh37: 10:69926334-69926334
GRCh38: 10:68166577-68166577

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 I band GO:0031674 9.26 MYPN KLHL40
2 A band GO:0031672 8.8 LMOD3 KLHL40

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

# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.63 MYPN MYOT B3GNT2
2 skeletal muscle fiber development GO:0048741 9.26 LMOD3 KLHL40
3 protein glycosylation GO:0006486 8.8 POMGNT2 B3GNT2 ALG11

Molecular functions related to Nemaline Myopathy 11, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glycosyltransferase activity GO:0016757 9.02 POMGNT2 B3GNT2 ALG11

Sources for Nemaline Myopathy 11, Autosomal Recessive

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....