NEM10
MCID: NML022
MIFTS: 28

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 57 12 74 29 6 72
Nem10 57 12 74
Myopathy, Nemaline, Type 10 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
nemaline myopathy 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110931
MeSH 44 D017696
UMLS 72 C4015360

Summaries for Nemaline Myopathy 10

UniProtKB/Swiss-Prot : 74 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 nemaline myopathy and 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 related phenotypes are facial palsy and respiratory insufficiency due to muscle weakness

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 : 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)

Related Diseases for Nemaline Myopathy 10

Symptoms & Phenotypes for Nemaline Myopathy 10

Human phenotypes related to Nemaline Myopathy 10:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 facial palsy 32 HP:0010628
2 respiratory insufficiency due to muscle weakness 32 HP:0002747
3 generalized muscle weakness 32 HP:0003324
4 skeletal muscle atrophy 32 HP:0003202
5 generalized hypotonia 32 HP:0001290
6 arthrogryposis multiplex congenita 32 HP:0002804
7 ophthalmoplegia 32 HP:0000602
8 polyhydramnios 32 HP:0001561
9 decreased fetal movement 32 HP:0001558
10 premature birth 32 HP:0001622
11 severe muscular hypotonia 32 HP:0006829
12 bulbar palsy 32 HP:0001283

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
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. 38 8 71
30291184 2018
2
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. 8 71
28815944 2017
3
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. 8 71
25250574 2014
4
Nemaline Myopathy 71
20301465 2002

Variations for Nemaline Myopathy 10

ClinVar genetic disease variations for Nemaline Myopathy 10:

6 (show top 50) (show all 90)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LMOD3 NC_000003.11: g.(?_69158226)_(69171557_?)del deletion Pathogenic 3:69158226-69171557 :0-0
2 LMOD3 NM_198271.4(LMOD3): c.476del (p.Gly159fs) deletion Pathogenic rs1426709672 3:69169030-69169030 3:69119879-69119879
3 LMOD3 NM_198271.4(LMOD3): c.357_361AAAAG[1] (p.Glu121fs) short repeat Pathogenic rs1274699363 3:69169140-69169144 3:69119989-69119993
4 LMOD3 NM_198271.4(LMOD3): c.138dup (p.Ser47fs) duplication Pathogenic rs727502797 3:69171400-69171400 3:69122249-69122249
5 LMOD3 NM_198271.4(LMOD3): c.1100_1102ACA[1] (p.Asn368del) short repeat Pathogenic rs727502798 3:69168401-69168403 3:69119250-69119252
6 LMOD3 NM_198271.4(LMOD3): c.1201C> T (p.Arg401Ter) single nucleotide variant Pathogenic rs724159964 3:69168305-69168305 3:69119154-69119154
7 LMOD3 NM_198271.4(LMOD3): c.1099_1100del (p.Asn367fs) deletion Pathogenic rs727502799 3:69168406-69168407 3:69119255-69119256
8 LMOD3 NM_198271.4(LMOD3): c.1069G> T (p.Glu357Ter) single nucleotide variant Pathogenic rs724159965 3:69168437-69168437 3:69119286-69119286
9 LMOD3 NM_198271.4(LMOD3): c.1667C> A (p.Pro556Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201205115 3:69158262-69158262 3:69109111-69109111
10 LMOD3 NM_198271.4(LMOD3): c.779T> C (p.Leu260Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs1553687898 3:69168727-69168727 3:69119576-69119576
11 LMOD3 NM_198271.4(LMOD3): c.608C> G (p.Pro203Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs775919681 3:69168898-69168898 3:69119747-69119747
12 LMOD3 NM_198271.4(LMOD3): c.1030C> T (p.Arg344Trp) single nucleotide variant Uncertain significance rs778824655 3:69168476-69168476 3:69119325-69119325
13 LMOD3 NM_198271.4(LMOD3): c.1259T> C (p.Leu420Ser) single nucleotide variant Uncertain significance rs1553687786 3:69168247-69168247 3:69119096-69119096
14 LMOD3 NM_198271.4(LMOD3): c.456T> A (p.Asp152Glu) single nucleotide variant Uncertain significance rs1388186593 3:69169050-69169050 3:69119899-69119899
15 LMOD3 NM_198271.4(LMOD3): c.332G> A (p.Arg111His) single nucleotide variant Uncertain significance rs370401036 3:69169174-69169174 3:69120023-69120023
16 LMOD3 NM_198271.4(LMOD3): c.1519G> A (p.Glu507Lys) single nucleotide variant Uncertain significance rs149196259 3:69167987-69167987 3:69118836-69118836
17 LMOD3 NM_198271.4(LMOD3): c.1460T> C (p.Val487Ala) single nucleotide variant Uncertain significance rs745318870 3:69168046-69168046 3:69118895-69118895
18 LMOD3 NM_198271.4(LMOD3): c.1648C> T (p.Leu550Phe) single nucleotide variant Uncertain significance rs1057519128 3:69167858-69167858 3:69118707-69118707
19 LMOD3 NM_198271.4(LMOD3): c.1004A> G (p.Gln335Arg) single nucleotide variant Uncertain significance rs1057519129 3:69168502-69168502 3:69119351-69119351
20 LMOD3 NM_198271.4(LMOD3): c.1529A> C (p.Asn510Thr) single nucleotide variant Uncertain significance rs538402410 3:69167977-69167977 3:69118826-69118826
21 LMOD3 NM_198271.4(LMOD3): c.1139C> T (p.Pro380Leu) single nucleotide variant Uncertain significance rs765223466 3:69168367-69168367 3:69119216-69119216
22 LMOD3 NM_198271.4(LMOD3): c.671A> G (p.Asp224Gly) single nucleotide variant Uncertain significance rs898638017 3:69168835-69168835 3:69119684-69119684
23 LMOD3 NM_198271.4(LMOD3): c.416A> G (p.Asn139Ser) single nucleotide variant Uncertain significance rs150380359 3:69169090-69169090 3:69119939-69119939
24 LMOD3 NM_198271.4(LMOD3): c.1152G> A (p.Met384Ile) single nucleotide variant Uncertain significance 3:69168354-69168354 3:69119203-69119203
25 LMOD3 NM_198271.4(LMOD3): c.1576C> T (p.Pro526Ser) single nucleotide variant Uncertain significance 3:69167930-69167930 3:69118779-69118779
26 LMOD3 NM_198271.4(LMOD3): c.521A> T (p.Glu174Val) single nucleotide variant Uncertain significance 3:69168985-69168985 3:69119834-69119834
27 LMOD3 NM_198271.4(LMOD3): c.292G> A (p.Glu98Lys) single nucleotide variant Uncertain significance 3:69171246-69171246 3:69122095-69122095
28 LMOD3 NM_198271.4(LMOD3): c.1249A> T (p.Ile417Leu) single nucleotide variant Uncertain significance 3:69168257-69168257 3:69119106-69119106
29 LMOD3 NM_198271.4(LMOD3): c.453A> T (p.Glu151Asp) single nucleotide variant Uncertain significance 3:69169053-69169053 3:69119902-69119902
30 LMOD3 NM_198271.4(LMOD3): c.1507A> G (p.Arg503Gly) single nucleotide variant Uncertain significance 3:69167999-69167999 3:69118848-69118848
31 LMOD3 NM_198271.4(LMOD3): c.169C> A (p.Gln57Lys) single nucleotide variant Uncertain significance 3:69171369-69171369 3:69122218-69122218
32 LMOD3 NM_198271.4(LMOD3): c.1079T> C (p.Ile360Thr) single nucleotide variant Uncertain significance 3:69168427-69168427 3:69119276-69119276
33 LMOD3 NM_198271.4(LMOD3): c.656A> G (p.Lys219Arg) single nucleotide variant Uncertain significance 3:69168850-69168850 3:69119699-69119699
34 LMOD3 NM_198271.4(LMOD3): c.875T> C (p.Val292Ala) single nucleotide variant Uncertain significance 3:69168631-69168631 3:69119480-69119480
35 LMOD3 NM_198271.4(LMOD3): c.506C> T (p.Thr169Met) single nucleotide variant Uncertain significance 3:69169000-69169000 3:69119849-69119849
36 LMOD3 NM_198271.4(LMOD3): c.266G> A (p.Arg89Gln) single nucleotide variant Uncertain significance 3:69171272-69171272 3:69122121-69122121
37 LMOD3 NM_198271.4(LMOD3): c.160C> G (p.Gln54Glu) single nucleotide variant Uncertain significance 3:69171378-69171378 3:69122227-69122227
38 LMOD3 NM_198271.4(LMOD3): c.1681dup (p.Ter561LeuextTer?) duplication Uncertain significance 3:69158248-69158248 3:69109097-69109097
39 LMOD3 NM_198271.4(LMOD3): c.1550C> T (p.Thr517Met) single nucleotide variant Uncertain significance 3:69167956-69167956 3:69118805-69118805
40 LMOD3 NM_198271.4(LMOD3): c.1484G> T (p.Arg495Leu) single nucleotide variant Uncertain significance 3:69168022-69168022 3:69118871-69118871
41 LMOD3 NM_198271.4(LMOD3): c.1468C> A (p.Leu490Met) single nucleotide variant Uncertain significance 3:69168038-69168038 3:69118887-69118887
42 LMOD3 NM_198271.4(LMOD3): c.1384T> G (p.Phe462Val) single nucleotide variant Uncertain significance 3:69168122-69168122 3:69118971-69118971
43 LMOD3 NM_198271.4(LMOD3): c.1332G> T (p.Gln444His) single nucleotide variant Uncertain significance 3:69168174-69168174 3:69119023-69119023
44 LMOD3 NM_198271.4(LMOD3): c.1280C> T (p.Pro427Leu) single nucleotide variant Uncertain significance 3:69168226-69168226 3:69119075-69119075
45 LMOD3 NM_198271.4(LMOD3): c.89A> C (p.Glu30Ala) single nucleotide variant Uncertain significance 3:69171449-69171449 3:69122298-69122298
46 LMOD3 NM_198271.4(LMOD3): c.295-3T> C single nucleotide variant Uncertain significance 3:69169214-69169214 3:69120063-69120063
47 LMOD3 NM_198271.4(LMOD3): c.296A> G (p.Glu99Gly) single nucleotide variant Uncertain significance rs1258289949 3:69169210-69169210 3:69120059-69120059
48 LMOD3 NM_198271.4(LMOD3): c.444_446AGA[3] (p.Glu151del) short repeat Uncertain significance rs753459417 3:69169051-69169053 3:69119900-69119902
49 LMOD3 NM_198271.4(LMOD3): c.1544T> A (p.Ile515Asn) single nucleotide variant Uncertain significance rs747837263 3:69167962-69167962 3:69118811-69118811
50 LMOD3 NM_198271.4(LMOD3): c.1645T> C (p.Tyr549His) single nucleotide variant Uncertain significance rs200045981 3:69167861-69167861 3:69118710-69118710

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

74
# 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

Sources for Nemaline Myopathy 10

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