NEM10
MCID: NML022
MIFTS: 35

Nemaline Myopathy 10 (NEM10)

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

Aliases & Classifications for Nemaline Myopathy 10

MalaCards integrated aliases for Nemaline Myopathy 10:

Name: Nemaline Myopathy 10 56 12 73 29 6 15 71
Nem10 56 12 73
Myopathy, Nemaline, Type 10 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
prenatal or neonatal onset
death usually in infancy due to respiratory failure


HPO:

31
nemaline myopathy 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110931
OMIM 56 616165
OMIM Phenotypic Series 56 PS161800
MeSH 43 D017696
UMLS 71 C4015360

Summaries for Nemaline Myopathy 10

UniProtKB/Swiss-Prot : 73 Nemaline myopathy 10: 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 nemaline myopathy, and has symptoms including generalized muscle weakness, ophthalmoplegia and facial paresis. An important gene associated with Nemaline Myopathy 10 is LMOD3 (Leiomodin 3). Affiliated tissues include skeletal muscle and bone, and related phenotypes are facial palsy and polyhydramnios

Disease Ontology : 12 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.

OMIM : 56 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)

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 16)
# Related Disease Score Top Affiliating Genes
1 myopathy 28.9 LMOD3 KLHL41 KLHL40 KBTBD13
2 nemaline myopathy 10.1
3 congenital nemaline myopathy 10.1
4 typical congenital nemaline myopathy 9.9 LMOD3 KLHL41
5 childhood-onset nemaline myopathy 9.9 KLHL41 KBTBD13
6 centronuclear myopathy 9.4 KLHL40 KBTBD13
7 severe congenital nemaline myopathy 9.4 LMOD3 KLHL41 KLHL40
8 multiple pterygium syndrome, escobar variant 9.3 LMOD3 KLHL41 KLHL40
9 muscular disease 9.3 LMOD3 KLHL40 KBTBD13
10 congenital structural myopathy 9.2 LMOD3 KLHL41 KLHL40 KBTBD13
11 distal arthrogryposis 9.2 MYBPC2 LMOD3 KLHL40 KBTBD13
12 congenital fiber-type disproportion 9.1 LMOD3 KLHL41 KLHL40 KBTBD13
13 nemaline myopathy 3 9.0 MYBPC2 LMOD3 KLHL9 KBTBD13 DNPEP
14 nemaline myopathy 11, autosomal recessive 8.1 MYBPC2 LMOD3 KLHL9 KLHL40 KBTBD13 DNPEP
15 nemaline myopathy 9 8.0 MYBPC2 LMOD3 KLHL9 KLHL41 KLHL40 KBTBD13
16 nemaline myopathy 8 8.0 MYBPC2 LMOD3 KLHL9 KLHL41 KLHL40 KBTBD13

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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 facial palsy 31 HP:0010628
2 polyhydramnios 31 HP:0001561
3 arthrogryposis multiplex congenita 31 HP:0002804
4 respiratory insufficiency due to muscle weakness 31 HP:0002747
5 generalized muscle weakness 31 HP:0003324
6 skeletal muscle atrophy 31 HP:0003202
7 generalized hypotonia 31 HP:0001290
8 ophthalmoplegia 31 HP:0000602
9 decreased fetal movement 31 HP:0001558
10 premature birth 31 HP:0001622
11 severe muscular hypotonia 31 HP:0006829
12 bulbar palsy 31 HP:0001283

Symptoms via clinical synopsis from OMIM:

56
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Eyes:
ophthalmoplegia

Prenatal Manifestations Delivery:
premature delivery

Head And Neck Face:
facial weakness

Abdomen Gastrointestinal:
feeding difficulties due to muscle weakness

Respiratory:
respiratory insufficiency due to muscle weakness
respiratory failure due to muscle weakness

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

UMLS symptoms related to Nemaline Myopathy 10:


generalized muscle weakness, ophthalmoplegia, facial paresis

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 29 LMOD3

Anatomical Context for Nemaline Myopathy 10

MalaCards organs/tissues related to Nemaline Myopathy 10:

40
Skeletal Muscle, Bone

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. 61 56 6
30291184 2018
2
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. 56 6
28815944 2017
3
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. 56 6
25250574 2014
4
Nemaline Myopathy 6
20301465 2002

Variations for Nemaline Myopathy 10

ClinVar genetic disease variations for Nemaline Myopathy 10:

6 (show top 50) (show all 66) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMOD3 NM_198271.4(LMOD3):c.138dup (p.Ser47fs)duplication Pathogenic 162215 rs727502797 3:69171399-69171400 3:69122248-69122249
2 LMOD3 NM_001304418.2(LMOD3):c.1100_1102ACA[1] (p.Asn368del)short repeat Pathogenic 162216 rs727502798 3:69168401-69168403 3:69119250-69119252
3 LMOD3 NM_198271.4(LMOD3):c.1201C>T (p.Arg401Ter)SNV Pathogenic 162217 rs724159964 3:69168305-69168305 3:69119154-69119154
4 LMOD3 NM_198271.4(LMOD3):c.1099_1100del (p.Asn367fs)deletion Pathogenic 162218 rs727502799 3:69168406-69168407 3:69119255-69119256
5 LMOD3 NM_198271.4(LMOD3):c.1069G>T (p.Glu357Ter)SNV Pathogenic 162219 rs724159965 3:69168437-69168437 3:69119286-69119286
6 LMOD3 NC_000003.11:g.(?_69158226)_(69171557_?)deldeletion Pathogenic 475292 3:69158226-69171557
7 LMOD3 NM_198271.4(LMOD3):c.476del (p.Gly159fs)deletion Pathogenic 475328 rs1426709672 3:69169030-69169030 3:69119879-69119879
8 LMOD3 NM_001304418.2(LMOD3):c.357_361AAAAG[1] (p.Glu121fs)short repeat Pathogenic 475319 rs1274699363 3:69169140-69169144 3:69119989-69119993
9 LMOD3 NM_198271.4(LMOD3):c.1628G>T (p.Arg543Leu)SNV Pathogenic 692211 3:69167878-69167878 3:69118727-69118727
10 LMOD3 NM_198271.4(LMOD3):c.366del (p.Lys122fs)deletion Likely pathogenic 692210 rs1368453406 3:69169140-69169140 3:69119989-69119989
11 LMOD3 NM_198271.4(LMOD3):c.779T>C (p.Leu260Pro)SNV Conflicting interpretations of pathogenicity 432042 rs1553687898 3:69168727-69168727 3:69119576-69119576
12 LMOD3 NM_198271.4(LMOD3):c.1648C>T (p.Leu550Phe)SNV Conflicting interpretations of pathogenicity 374498 rs1057519128 3:69167858-69167858 3:69118707-69118707
13 LMOD3 NM_198271.4(LMOD3):c.1004A>G (p.Gln335Arg)SNV Uncertain significance 374499 rs1057519129 3:69168502-69168502 3:69119351-69119351
14 LMOD3 NM_198271.4(LMOD3):c.1529A>C (p.Asn510Thr)SNV Uncertain significance 475309 rs538402410 3:69167977-69167977 3:69118826-69118826
15 LMOD3 NM_198271.4(LMOD3):c.1259T>C (p.Leu420Ser)SNV Uncertain significance 475299 rs1553687786 3:69168247-69168247 3:69119096-69119096
16 LMOD3 NM_198271.4(LMOD3):c.1030C>T (p.Arg344Trp)SNV Uncertain significance 475294 rs778824655 3:69168476-69168476 3:69119325-69119325
17 LMOD3 NM_198271.4(LMOD3):c.456T>A (p.Asp152Glu)SNV Uncertain significance 475326 rs1388186593 3:69169050-69169050 3:69119899-69119899
18 LMOD3 NM_198271.4(LMOD3):c.332G>A (p.Arg111His)SNV Uncertain significance 475318 rs370401036 3:69169174-69169174 3:69120023-69120023
19 LMOD3 NM_198271.4(LMOD3):c.1519G>A (p.Glu507Lys)SNV Uncertain significance 475308 rs149196259 3:69167987-69167987 3:69118836-69118836
20 LMOD3 NM_198271.4(LMOD3):c.1460T>C (p.Val487Ala)SNV Uncertain significance 475306 rs745318870 3:69168046-69168046 3:69118895-69118895
21 LMOD3 NM_198271.4(LMOD3):c.296A>G (p.Glu99Gly)SNV Uncertain significance 475317 rs1258289949 3:69169210-69169210 3:69120059-69120059
22 LMOD3 NM_198271.4(LMOD3):c.1544T>A (p.Ile515Asn)SNV Uncertain significance 542083 rs747837263 3:69167962-69167962 3:69118811-69118811
23 LMOD3 NM_198271.4(LMOD3):c.1645T>C (p.Tyr549His)SNV Uncertain significance 542081 rs200045981 3:69167861-69167861 3:69118710-69118710
24 LMOD3 NM_001304418.2(LMOD3):c.444_446AGA[3] (p.Glu151del)short repeat Uncertain significance 475325 rs753459417 3:69169051-69169053 3:69119900-69119902
25 LMOD3 NM_198271.4(LMOD3):c.1139C>T (p.Pro380Leu)SNV Uncertain significance 475295 rs765223466 3:69168367-69168367 3:69119216-69119216
26 LMOD3 NM_198271.4(LMOD3):c.671A>G (p.Asp224Gly)SNV Uncertain significance 475331 rs898638017 3:69168835-69168835 3:69119684-69119684
27 LMOD3 NM_198271.4(LMOD3):c.1664T>A (p.Leu555Gln)SNV Uncertain significance 542084 rs377612351 3:69158265-69158265 3:69109114-69109114
28 LMOD3 NM_198271.4(LMOD3):c.1441G>A (p.Asp481Asn)SNV Uncertain significance 542082 rs750502860 3:69168065-69168065 3:69118914-69118914
29 LMOD3 NM_198271.4(LMOD3):c.203A>G (p.His68Arg)SNV Uncertain significance 542085 rs752432695 3:69171335-69171335 3:69122184-69122184
30 LMOD3 NM_198271.4(LMOD3):c.1152G>A (p.Met384Ile)SNV Uncertain significance 575383 rs1424776785 3:69168354-69168354 3:69119203-69119203
31 LMOD3 NM_198271.4(LMOD3):c.1576C>T (p.Pro526Ser)SNV Uncertain significance 573278 rs201771939 3:69167930-69167930 3:69118779-69118779
32 LMOD3 NM_198271.4(LMOD3):c.521A>T (p.Glu174Val)SNV Uncertain significance 572078 rs1559662229 3:69168985-69168985 3:69119834-69119834
33 LMOD3 NM_198271.4(LMOD3):c.292G>A (p.Glu98Lys)SNV Uncertain significance 569573 rs1467437318 3:69171246-69171246 3:69122095-69122095
34 LMOD3 NM_198271.4(LMOD3):c.1249A>T (p.Ile417Leu)SNV Uncertain significance 580464 rs745957045 3:69168257-69168257 3:69119106-69119106
35 LMOD3 NM_198271.4(LMOD3):c.453A>T (p.Glu151Asp)SNV Uncertain significance 567348 rs376142558 3:69169053-69169053 3:69119902-69119902
36 LMOD3 NM_198271.4(LMOD3):c.1507A>G (p.Arg503Gly)SNV Uncertain significance 574953 rs764972614 3:69167999-69167999 3:69118848-69118848
37 LMOD3 NM_198271.4(LMOD3):c.1079T>C (p.Ile360Thr)SNV Uncertain significance 567261 rs1559661751 3:69168427-69168427 3:69119276-69119276
38 LMOD3 NM_198271.4(LMOD3):c.656A>G (p.Lys219Arg)SNV Uncertain significance 579623 rs190038977 3:69168850-69168850 3:69119699-69119699
39 LMOD3 NM_198271.4(LMOD3):c.169C>A (p.Gln57Lys)SNV Uncertain significance 575688 rs1559663262 3:69171369-69171369 3:69122218-69122218
40 LMOD3 NM_198271.5(LMOD3):c.1681dup (p.Ter561LeuextTer?)duplication Uncertain significance 656094 3:69158247-69158248 3:69109096-69109097
41 LMOD3 NM_198271.4(LMOD3):c.1550C>T (p.Thr517Met)SNV Uncertain significance 666161 3:69167956-69167956 3:69118805-69118805
42 LMOD3 NM_198271.4(LMOD3):c.1484G>T (p.Arg495Leu)SNV Uncertain significance 654151 3:69168022-69168022 3:69118871-69118871
43 LMOD3 NM_198271.4(LMOD3):c.1468C>A (p.Leu490Met)SNV Uncertain significance 654776 3:69168038-69168038 3:69118887-69118887
44 LMOD3 NM_198271.4(LMOD3):c.1384T>G (p.Phe462Val)SNV Uncertain significance 660061 3:69168122-69168122 3:69118971-69118971
45 LMOD3 NM_198271.4(LMOD3):c.1332G>T (p.Gln444His)SNV Uncertain significance 643658 3:69168174-69168174 3:69119023-69119023
46 LMOD3 NM_198271.4(LMOD3):c.1280C>T (p.Pro427Leu)SNV Uncertain significance 642773 3:69168226-69168226 3:69119075-69119075
47 LMOD3 NM_198271.4(LMOD3):c.875T>C (p.Val292Ala)SNV Uncertain significance 659242 3:69168631-69168631 3:69119480-69119480
48 LMOD3 NM_198271.4(LMOD3):c.506C>T (p.Thr169Met)SNV Uncertain significance 655968 3:69169000-69169000 3:69119849-69119849
49 LMOD3 NM_198271.4(LMOD3):c.266G>A (p.Arg89Gln)SNV Uncertain significance 646174 3:69171272-69171272 3:69122121-69122121
50 LMOD3 NM_198271.4(LMOD3):c.160C>G (p.Gln54Glu)SNV Uncertain significance 653040 3:69171378-69171378 3:69122227-69122227

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 M band GO:0031430 9.16 LMOD3 KLHL41
2 A band GO:0031672 8.96 LMOD3 KLHL40
3 Cul3-RING ubiquitin ligase complex GO:0031463 8.8 KLHL9 KLHL41 KLHL40

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

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.43 KLHL9 KLHL41 KBTBD13
2 muscle contraction GO:0006936 9.32 MYBPC2 LMOD3
3 striated muscle contraction GO:0006941 9.16 LMOD3 KLHL41
4 myofibril assembly GO:0030239 8.96 LMOD3 KLHL41
5 skeletal muscle fiber development GO:0048741 8.8 LMOD3 KLHL41 KLHL40

Sources for Nemaline Myopathy 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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