NEM10
MCID: NML022
MIFTS: 39

Nemaline Myopathy 10 (NEM10)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Nemaline Myopathy 10

MalaCards integrated aliases for Nemaline Myopathy 10:

Name: Nemaline Myopathy 10 57 11 73 28 5 14 71
Nem10 57 11 73
Myopathy, Nemaline, Type 10 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
prenatal or neonatal onset
death usually in infancy due to respiratory failure


Classifications:



External Ids:

Disease Ontology 11 DOID:0110931
OMIM® 57 616165
OMIM Phenotypic Series 57 PS161800
MeSH 43 D017696
UMLS 71 C4015360

Summaries for Nemaline Myopathy 10

UniProtKB/Swiss-Prot: 73 An autosomal recessive severe 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. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy.

MalaCards based summary: Nemaline Myopathy 10, also known as nem10, is related to myopathy and locked-in syndrome, and has symptoms including ophthalmoplegia, generalized muscle weakness and facial paresis. An important gene associated with Nemaline Myopathy 10 is LMOD3 (Leiomodin 3). Affiliated tissues include skeletal muscle, and related phenotypes are facial palsy and skeletal muscle atrophy

OMIM®: 57 Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014). Patients with a stable and much milder disease course have been described (Schatz et al., 2018). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). (616165) (Updated 08-Dec-2022)

Disease Ontology: 11 A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has material basis in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14.

Related Diseases for Nemaline Myopathy 10

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 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 myopathy 28.8 MYPN LMOD3 KLHL41 KLHL40 KBTBD13 HACD1
2 locked-in syndrome 10.2 LMOD3 KLHL40
3 cardiomyopathy, dilated, 1ff 10.1 LMOD3 KBTBD13
4 cardiomyopathy, dilated, 2a 10.1 LMOD3 KBTBD13
5 nemaline myopathy 5 10.1 LMOD3 KBTBD13
6 typical congenital nemaline myopathy 10.1 LMOD3 KLHL41
7 king-denborough syndrome 10.1 KLHL40 KBTBD13
8 nemaline myopathy 10.0
9 congenital nemaline myopathy 10.0
10 myopathy, spheroid body 10.0 MYPN LMOD3
11 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 10.0 LMOD3 LMOD2
12 severe congenital nemaline myopathy 10.0 LMOD3 KLHL41 KLHL40
13 spinal muscular atrophy type 0 10.0 LMOD3 KLHL41 KLHL40
14 carey-fineman-ziter syndrome 1 9.9 MYPOP KLHL40
15 multiple pterygium syndrome, escobar variant 9.9 LMOD3 KLHL41 KLHL40
16 familial isolated dilated cardiomyopathy 9.9 MYPN LMOD2
17 distal hereditary motor neuronopathy type 2 9.9 LMOD3 KLHL40
18 childhood-onset nemaline myopathy 9.9 MYPN KLHL41 KBTBD13
19 respiratory failure 9.8 MYPN LMOD3 KLHL40
20 congenital myasthenic syndrome 9.8 KLHL40 KBTBD13 ALG11
21 nemaline myopathy 9 9.8 LMOD3 KLHL41 KLHL40 KBTBD13
22 distal arthrogryposis 9.8 LMOD3 KLHL41 KLHL40 KBTBD13
23 centronuclear myopathy 9.7 KLHL40 KBTBD13 HACD1
24 neuronopathy, distal hereditary motor, type iia 9.6 PAXBP1 MYPOP LMOD3 KLHL40
25 nemaline myopathy 8 9.6 MYPN LMOD3 KLHL41 KLHL40 KBTBD13
26 nemaline myopathy 2 9.6 MYPN LMOD3 KLHL41 KLHL40 KBTBD13
27 congenital structural myopathy 9.4 MYPN LMOD3 LMOD2 KLHL41 KLHL40 KBTBD13
28 myopathy, centronuclear, 1 9.2 PAXBP1 MYPOP LMOD3 KLHL40 HACD1
29 congenital fiber-type disproportion 9.2 LMOD3 LMOD2 KLHL41 KLHL40 KBTBD13 HACD1
30 batten-turner congenital myopathy 9.2 MYPN LMOD3 KLHL41 KLHL40 KBTBD13 HACD1
31 nemaline myopathy 11, autosomal recessive 9.2 PAXBP1 MYPOP MYPN LMOD3 KLHL40 ALG11

Graphical network of the top 20 diseases related to Nemaline Myopathy 10:



Diseases related to Nemaline Myopathy 10

Symptoms & Phenotypes for Nemaline Myopathy 10

Human phenotypes related to Nemaline Myopathy 10:

30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial palsy 30 HP:0010628
2 skeletal muscle atrophy 30 HP:0003202
3 respiratory insufficiency due to muscle weakness 30 HP:0002747
4 ophthalmoplegia 30 HP:0000602
5 polyhydramnios 30 HP:0001561
6 decreased fetal movement 30 HP:0001558
7 arthrogryposis multiplex congenita 30 HP:0002804
8 premature birth 30 HP:0001622
9 severe muscular hypotonia 30 HP:0006829
10 generalized muscle weakness 30 HP:0003324
11 generalized hypotonia 30 HP:0001290
12 bulbar palsy 30 HP:0001283

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Respiratory:
respiratory insufficiency due to muscle weakness
respiratory failure due to muscle weakness

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Prenatal Manifestations Delivery:
premature delivery

Head And Neck Face:
facial weakness

Abdomen Gastrointestinal:
feeding difficulties due to muscle weakness

Head And Neck Eyes:
ophthalmoplegia

Muscle Soft Tissue:
muscle atrophy
muscle weakness, generalized
bulbar muscle weakness
hypotonia, severe, neonatal
replacement of myofibers with connective tissue
more
Skeletal:
contractures
arthrogryposis

Prenatal Manifestations Movement:
decreased fetal movements
absent fetal movements

Clinical features from OMIM®:

616165 (Updated 08-Dec-2022)

UMLS symptoms related to Nemaline Myopathy 10:


ophthalmoplegia; generalized muscle weakness; facial paresis

MGI Mouse Phenotypes related to Nemaline Myopathy 10:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 HACD1 KBTBD13 KLHL40 KLHL41 LMOD2 LMOD3

Drugs & Therapeutics for Nemaline Myopathy 10

Search Clinical Trials, NIH Clinical Center for Nemaline Myopathy 10

Genetic Tests for Nemaline Myopathy 10

Genetic tests related to Nemaline Myopathy 10:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 10 28 LMOD3

Anatomical Context for Nemaline Myopathy 10

Organs/tissues related to Nemaline Myopathy 10:

MalaCards : Skeletal Muscle
ODiseA: Skeletal Muscle

Publications for Nemaline Myopathy 10

Articles related to Nemaline Myopathy 10:

# Title Authors PMID Year
1
Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria. 62 57 5
30291184 2018
2
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. 57 5
28815944 2017
3
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. 57 5
25250574 2014
4
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families. 5
31428121 2019

Variations for Nemaline Myopathy 10

ClinVar genetic disease variations for Nemaline Myopathy 10:

5 (show top 50) (show all 286)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMOD3 NM_198271.5(LMOD3):c.476del (p.Gly159fs) DEL Pathogenic
475328 rs1426709672 GRCh37: 3:69169030-69169030
GRCh38: 3:69119879-69119879
2 LMOD3 NM_198271.5(LMOD3):c.102del (p.Glu34fs) DEL Pathogenic
942494 rs2092412254 GRCh37: 3:69171436-69171436
GRCh38: 3:69122285-69122285
3 LMOD3 NM_198271.5(LMOD3):c.1628G>T (p.Arg543Leu) SNV Pathogenic
692211 rs199655993 GRCh37: 3:69167878-69167878
GRCh38: 3:69118727-69118727
4 LMOD3 NM_198271.5(LMOD3):c.1201C>T (p.Arg401Ter) SNV Pathogenic
162217 rs724159964 GRCh37: 3:69168305-69168305
GRCh38: 3:69119154-69119154
5 LMOD3 NM_198271.5(LMOD3):c.1069G>T (p.Glu357Ter) SNV Pathogenic
162219 rs724159965 GRCh37: 3:69168437-69168437
GRCh38: 3:69119286-69119286
6 LMOD3 NM_198271.5(LMOD3):c.362_366del (p.Glu121fs) MICROSAT Pathogenic
475319 rs1274699363 GRCh37: 3:69169140-69169144
GRCh38: 3:69119989-69119993
7 LMOD3 NM_198271.5(LMOD3):c.1342C>T (p.Gln448Ter) SNV Pathogenic
1323241 GRCh37: 3:69168164-69168164
GRCh38: 3:69119013-69119013
8 LMOD3 NM_198271.5(LMOD3):c.1020_1023del (p.Thr341fs) DEL Pathogenic
1323243 GRCh37: 3:69168483-69168486
GRCh38: 3:69119332-69119335
9 LMOD3 NM_198271.5(LMOD3):c.138dup (p.Ser47fs) DUP Pathogenic
162215 rs727502797 GRCh37: 3:69171399-69171400
GRCh38: 3:69122248-69122249
10 LMOD3 NM_198271.5(LMOD3):c.1192del (p.Arg398fs) DEL Pathogenic
1354391 GRCh37: 3:69168314-69168314
GRCh38: 3:69119163-69119163
11 LMOD3 NM_198271.5(LMOD3):c.1472dup (p.Arg492fs) DUP Pathogenic
1395938 GRCh37: 3:69168033-69168034
GRCh38: 3:69118882-69118883
12 LMOD3 NM_198271.5(LMOD3):c.80_95del (p.Asn26_Leu27insTer) DEL Pathogenic
1457468 GRCh37: 3:69171443-69171458
GRCh38: 3:69122292-69122307
13 LMOD3 NM_198271.5(LMOD3):c.704C>G (p.Ser235Ter) SNV Pathogenic
1451345 GRCh37: 3:69168802-69168802
GRCh38: 3:69119651-69119651
14 LMOD3 NM_198271.5(LMOD3):c.154del (p.Gly51_Met52insTer) DEL Pathogenic
1450617 GRCh37: 3:69171384-69171384
GRCh38: 3:69122233-69122233
15 LMOD3 NM_198271.5(LMOD3):c.1219C>T (p.Gln407Ter) SNV Pathogenic
1451618 GRCh37: 3:69168287-69168287
GRCh38: 3:69119136-69119136
16 LMOD3 NC_000003.11:g.(?_69158226)_(69171557_?)del DEL Pathogenic
475292 GRCh37: 3:69158226-69171557
GRCh38:
17 LMOD3 NM_198271.5(LMOD3):c.723_733del (p.Asp242fs) DEL Pathogenic
817627 rs769824247 GRCh37: 3:69168773-69168783
GRCh38: 3:69119622-69119632
18 LMOD3 NM_198271.5(LMOD3):c.971del (p.Gly324fs) DEL Pathogenic
1417273 GRCh37: 3:69168535-69168535
GRCh38: 3:69119384-69119384
19 LMOD3 NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs) DEL Pathogenic
162218 rs727502799 GRCh37: 3:69168406-69168407
GRCh38: 3:69119255-69119256
20 LMOD3 NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe) SNV Pathogenic
374498 rs1057519128 GRCh37: 3:69167858-69167858
GRCh38: 3:69118707-69118707
21 LMOD3 NM_198271.5(LMOD3):c.1004A>G (p.Gln335Arg) SNV Pathogenic
374499 rs1057519129 GRCh37: 3:69168502-69168502
GRCh38: 3:69119351-69119351
22 LMOD3 NM_198271.5(LMOD3):c.366del (p.Lys122fs) DEL Likely Pathogenic
692210 rs1368453406 GRCh37: 3:69169140-69169140
GRCh38: 3:69119989-69119989
23 LMOD3 NM_198271.5(LMOD3):c.23C>G (p.Ser8Ter) SNV Likely Pathogenic
1027923 rs2092413018 GRCh37: 3:69171515-69171515
GRCh38: 3:69122364-69122364
24 LMOD3 NM_198271.5(LMOD3):c.788T>C (p.Ile263Thr) SNV Conflicting Interpretations Of Pathogenicity
475333 rs9835034 GRCh37: 3:69168718-69168718
GRCh38: 3:69119567-69119567
25 LMOD3 NM_198271.5(LMOD3):c.166G>A (p.Asp56Asn) SNV Uncertain Significance
1032596 rs1469953832 GRCh37: 3:69171372-69171372
GRCh38: 3:69122221-69122221
26 LMOD3 NM_198271.5(LMOD3):c.110C>T (p.Ser37Leu) SNV Uncertain Significance
1365740 GRCh37: 3:69171428-69171428
GRCh38: 3:69122277-69122277
27 LMOD3 NM_198271.5(LMOD3):c.1189C>G (p.Gln397Glu) SNV Uncertain Significance
1351224 GRCh37: 3:69168317-69168317
GRCh38: 3:69119166-69119166
28 LMOD3 NM_198271.5(LMOD3):c.695C>T (p.Thr232Ile) SNV Uncertain Significance
1513933 GRCh37: 3:69168811-69168811
GRCh38: 3:69119660-69119660
29 LMOD3 NM_198271.5(LMOD3):c.1367A>T (p.Asn456Ile) SNV Uncertain Significance
1348178 GRCh37: 3:69168139-69168139
GRCh38: 3:69118988-69118988
30 LMOD3 NC_000003.11:g.(?_69158236)_(69171547_?)dup DUP Uncertain Significance
1000795 GRCh37: 3:69158236-69171547
GRCh38:
31 LMOD3 NM_198271.5(LMOD3):c.295-5T>C SNV Uncertain Significance
1503043 GRCh37: 3:69169216-69169216
GRCh38: 3:69120065-69120065
32 LMOD3 NM_198271.5(LMOD3):c.392A>G (p.Lys131Arg) SNV Uncertain Significance
1512027 GRCh37: 3:69169114-69169114
GRCh38: 3:69119963-69119963
33 LMOD3 NM_198271.5(LMOD3):c.263A>T (p.Glu88Val) SNV Uncertain Significance
1516194 GRCh37: 3:69171275-69171275
GRCh38: 3:69122124-69122124
34 LMOD3 NM_198271.5(LMOD3):c.1540G>A (p.Val514Ile) SNV Uncertain Significance
1470611 GRCh37: 3:69167966-69167966
GRCh38: 3:69118815-69118815
35 LMOD3 NM_198271.5(LMOD3):c.1167_1169del (p.Leu390del) DEL Uncertain Significance
1448337 GRCh37: 3:69168337-69168339
GRCh38: 3:69119186-69119188
36 LMOD3 NM_198271.5(LMOD3):c.1160C>T (p.Thr387Ile) SNV Uncertain Significance
1483932 GRCh37: 3:69168346-69168346
GRCh38: 3:69119195-69119195
37 LMOD3 NM_198271.5(LMOD3):c.26A>G (p.Asp9Gly) SNV Uncertain Significance
1717611 GRCh37: 3:69171512-69171512
GRCh38: 3:69122361-69122361
38 LMOD3 NM_198271.5(LMOD3):c.1157T>C (p.Val386Ala) SNV Uncertain Significance
1385700 GRCh37: 3:69168349-69168349
GRCh38: 3:69119198-69119198
39 LMOD3 NM_198271.5(LMOD3):c.1294G>A (p.Glu432Lys) SNV Uncertain Significance
1398149 GRCh37: 3:69168212-69168212
GRCh38: 3:69119061-69119061
40 LMOD3 NM_198271.5(LMOD3):c.1061A>G (p.His354Arg) SNV Uncertain Significance
1408995 GRCh37: 3:69168445-69168445
GRCh38: 3:69119294-69119294
41 LMOD3 NM_198271.5(LMOD3):c.575C>T (p.Thr192Ile) SNV Uncertain Significance
1412605 GRCh37: 3:69168931-69168931
GRCh38: 3:69119780-69119780
42 LMOD3 NM_198271.5(LMOD3):c.1397G>A (p.Ser466Asn) SNV Uncertain Significance
1383716 GRCh37: 3:69168109-69168109
GRCh38: 3:69118958-69118958
43 LMOD3 NM_198271.5(LMOD3):c.1370C>T (p.Pro457Leu) SNV Uncertain Significance
1365715 GRCh37: 3:69168136-69168136
GRCh38: 3:69118985-69118985
44 LMOD3 NM_198271.5(LMOD3):c.385G>T (p.Ala129Ser) SNV Uncertain Significance
1415675 GRCh37: 3:69169121-69169121
GRCh38: 3:69119970-69119970
45 LMOD3 NM_198271.5(LMOD3):c.1673A>C (p.Glu558Ala) SNV Uncertain Significance
1406409 GRCh37: 3:69158256-69158256
GRCh38: 3:69109105-69109105
46 LMOD3 NM_198271.5(LMOD3):c.797T>C (p.Ile266Thr) SNV Uncertain Significance
1360810 GRCh37: 3:69168709-69168709
GRCh38: 3:69119558-69119558
47 LMOD3 NM_198271.5(LMOD3):c.76A>G (p.Asn26Asp) SNV Uncertain Significance
1357871 GRCh37: 3:69171462-69171462
GRCh38: 3:69122311-69122311
48 LMOD3 NM_198271.5(LMOD3):c.961T>C (p.Phe321Leu) SNV Uncertain Significance
1365795 GRCh37: 3:69168545-69168545
GRCh38: 3:69119394-69119394
49 LMOD3 NM_198271.5(LMOD3):c.406G>A (p.Gly136Ser) SNV Uncertain Significance
1366246 GRCh37: 3:69169100-69169100
GRCh38: 3:69119949-69119949
50 LMOD3 NM_198271.5(LMOD3):c.1256T>C (p.Met419Thr) SNV Uncertain Significance
1366029 GRCh37: 3:69168250-69168250
GRCh38: 3:69119099-69119099

UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 10:

73
# Symbol AA change Variation ID SNP ID
1 LMOD3 p.Gly326Arg VAR_072643

Expression for Nemaline Myopathy 10

Search GEO for disease gene expression data for Nemaline Myopathy 10.

Pathways for Nemaline Myopathy 10

GO Terms for Nemaline Myopathy 10

Cellular components related to Nemaline Myopathy 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myofibril GO:0030016 9.67 LMOD3 LMOD2
2 Cul3-RING ubiquitin ligase complex GO:0031463 9.62 KLHL41 KLHL40
3 I band GO:0031674 9.56 MYPN KLHL40
4 A band GO:0031672 9.33 LMOD3 KLHL40
5 striated muscle thin filament GO:0005865 9.26 LMOD3 LMOD2
6 M band GO:0031430 9.1 LMOD3 LMOD2 KLHL41

Biological processes related to Nemaline Myopathy 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.88 LMOD3 LMOD2 KBTBD13
2 striated muscle contraction GO:0006941 9.67 LMOD3 KLHL41
3 sarcomere organization GO:0045214 9.63 MYPN LMOD2 KLHL41
4 actin nucleation GO:0045010 9.62 LMOD3 LMOD2
5 pointed-end actin filament capping GO:0051694 9.56 LMOD3 LMOD2
6 skeletal muscle fiber development GO:0048741 9.43 LMOD3 KLHL41 KLHL40
7 myofibril assembly GO:0030239 9.1 LMOD3 LMOD2 KLHL41

Molecular functions related to Nemaline Myopathy 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin monomer binding GO:0003785 9.26 LMOD2 LMOD3
2 tropomyosin binding GO:0005523 8.92 LMOD3 LMOD2

Sources for Nemaline Myopathy 10

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
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