MCID: NML022
MIFTS: 21

Nemaline Myopathy 10

Categories: 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 75 29 6 73
Nem10 57 12 75
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:



Summaries for Nemaline Myopathy 10

UniProtKB/Swiss-Prot : 75 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, is also known as nem10, and has symptoms including ophthalmoplegia, facial paresis and generalized muscle weakness. 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). 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

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
respiratory insufficiency due to muscle weakness
respiratory failure due to muscle weakness

Head And Neck Eyes:
ophthalmoplegia

Prenatal Manifestations Delivery:
premature delivery

Head And Neck Face:
facial weakness

Abdomen Gastrointestinal:
feeding difficulties due to muscle weakness

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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

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 arthrogryposis multiplex congenita 32 HP:0002804
6 polyhydramnios 32 HP:0001561
7 decreased fetal movement 32 HP:0001558
8 premature birth 32 HP:0001622
9 ophthalmoplegia 32 HP:0000602
10 bulbar palsy 32 HP:0001283
11 generalized hypotonia 32 HP:0001290
12 severe muscular hypotonia 32 HP:0006829

UMLS symptoms related to Nemaline Myopathy 10:


ophthalmoplegia, facial paresis, generalized muscle weakness

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

Variations for Nemaline Myopathy 10

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

75
# Symbol AA change Variation ID SNP ID
1 LMOD3 p.Gly326Arg VAR_072643

ClinVar genetic disease variations for Nemaline Myopathy 10:

6
(show top 50) (show all 129)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMOD3 NM_198271.4(LMOD3): c.1201C> T (p.Arg401Ter) single nucleotide variant Pathogenic rs724159964 GRCh38 Chromosome 3, 69119154: 69119154
2 LMOD3 NM_198271.4(LMOD3): c.138dupC (p.Ser47Glnfs) duplication Pathogenic rs727502797 GRCh37 Chromosome 3, 69171400: 69171400
3 LMOD3 NM_198271.4(LMOD3): c.138dupC (p.Ser47Glnfs) duplication Pathogenic rs727502797 GRCh38 Chromosome 3, 69122249: 69122249
4 LMOD3 NM_198271.4(LMOD3): c.1103_1105delACA (p.Asn368del) deletion Pathogenic rs727502798 GRCh37 Chromosome 3, 69168401: 69168403
5 LMOD3 NM_198271.4(LMOD3): c.1103_1105delACA (p.Asn368del) deletion Pathogenic rs727502798 GRCh38 Chromosome 3, 69119250: 69119252
6 LMOD3 NM_198271.4(LMOD3): c.1201C> T (p.Arg401Ter) single nucleotide variant Pathogenic rs724159964 GRCh37 Chromosome 3, 69168305: 69168305
7 LMOD3 NM_198271.4(LMOD3): c.1099_1100delAA (p.Asn367Glnfs) deletion Pathogenic rs727502799 GRCh37 Chromosome 3, 69168406: 69168407
8 LMOD3 NM_198271.4(LMOD3): c.1099_1100delAA (p.Asn367Glnfs) deletion Pathogenic rs727502799 GRCh38 Chromosome 3, 69119255: 69119256
9 LMOD3 NM_198271.4(LMOD3): c.1069G> T (p.Glu357Ter) single nucleotide variant Pathogenic rs724159965 GRCh37 Chromosome 3, 69168437: 69168437
10 LMOD3 NM_198271.4(LMOD3): c.1069G> T (p.Glu357Ter) single nucleotide variant Pathogenic rs724159965 GRCh38 Chromosome 3, 69119286: 69119286
11 LMOD3 NM_198271.4(LMOD3): c.1667C> A (p.Pro556Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201205115 GRCh37 Chromosome 3, 69158262: 69158262
12 LMOD3 NM_198271.4(LMOD3): c.1667C> A (p.Pro556Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201205115 GRCh38 Chromosome 3, 69109111: 69109111
13 LMOD3 NM_198271.4(LMOD3): c.779T> C (p.Leu260Pro) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 3, 69168727: 69168727
14 LMOD3 NM_198271.4(LMOD3): c.779T> C (p.Leu260Pro) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 3, 69119576: 69119576
15 LMOD3 NC_000003.11: g.(?_69158226)_(69171557_?)del deletion Pathogenic GRCh37 Chromosome 3, 69158226: 69171557
16 LMOD3 NM_198271.4(LMOD3): c.1655C> A (p.Pro552His) single nucleotide variant Benign rs145387235 GRCh37 Chromosome 3, 69167851: 69167851
17 LMOD3 NM_198271.4(LMOD3): c.1655C> A (p.Pro552His) single nucleotide variant Benign rs145387235 GRCh38 Chromosome 3, 69118700: 69118700
18 LMOD3 NM_198271.4(LMOD3): c.1529A> C (p.Asn510Thr) single nucleotide variant Uncertain significance rs538402410 GRCh37 Chromosome 3, 69167977: 69167977
19 LMOD3 NM_198271.4(LMOD3): c.1529A> C (p.Asn510Thr) single nucleotide variant Uncertain significance rs538402410 GRCh38 Chromosome 3, 69118826: 69118826
20 LMOD3 NM_198271.4(LMOD3): c.1493G> A (p.Arg498Gln) single nucleotide variant Benign rs116440123 GRCh37 Chromosome 3, 69168013: 69168013
21 LMOD3 NM_198271.4(LMOD3): c.1493G> A (p.Arg498Gln) single nucleotide variant Benign rs116440123 GRCh38 Chromosome 3, 69118862: 69118862
22 LMOD3 NM_198271.4(LMOD3): c.1428G> A (p.Pro476=) single nucleotide variant Likely benign rs367573665 GRCh37 Chromosome 3, 69168078: 69168078
23 LMOD3 NM_198271.4(LMOD3): c.1428G> A (p.Pro476=) single nucleotide variant Likely benign rs367573665 GRCh38 Chromosome 3, 69118927: 69118927
24 LMOD3 NM_198271.4(LMOD3): c.1416A> G (p.Pro472=) single nucleotide variant Likely benign rs563513367 GRCh37 Chromosome 3, 69168090: 69168090
25 LMOD3 NM_198271.4(LMOD3): c.1416A> G (p.Pro472=) single nucleotide variant Likely benign rs563513367 GRCh38 Chromosome 3, 69118939: 69118939
26 LMOD3 NM_198271.4(LMOD3): c.1313A> T (p.Lys438Met) single nucleotide variant Benign rs6810145 GRCh38 Chromosome 3, 69119042: 69119042
27 LMOD3 NM_198271.4(LMOD3): c.1313A> T (p.Lys438Met) single nucleotide variant Benign rs6810145 GRCh37 Chromosome 3, 69168193: 69168193
28 LMOD3 NM_198271.4(LMOD3): c.1257G> C (p.Met419Ile) single nucleotide variant Benign rs75713718 GRCh38 Chromosome 3, 69119098: 69119098
29 LMOD3 NM_198271.4(LMOD3): c.1257G> C (p.Met419Ile) single nucleotide variant Benign rs75713718 GRCh37 Chromosome 3, 69168249: 69168249
30 LMOD3 NM_198271.4(LMOD3): c.1139C> T (p.Pro380Leu) single nucleotide variant Uncertain significance rs765223466 GRCh37 Chromosome 3, 69168367: 69168367
31 LMOD3 NM_198271.4(LMOD3): c.1139C> T (p.Pro380Leu) single nucleotide variant Uncertain significance rs765223466 GRCh38 Chromosome 3, 69119216: 69119216
32 LMOD3 NM_198271.4(LMOD3): c.129C> T (p.Ala43=) single nucleotide variant Likely benign rs201709177 GRCh38 Chromosome 3, 69122258: 69122258
33 LMOD3 NM_198271.4(LMOD3): c.129C> T (p.Ala43=) single nucleotide variant Likely benign rs201709177 GRCh37 Chromosome 3, 69171409: 69171409
34 LMOD3 NM_198271.4(LMOD3): c.39_41delTCT (p.Leu14del) deletion Benign rs139192915 GRCh38 Chromosome 3, 69122346: 69122348
35 LMOD3 NM_198271.4(LMOD3): c.39_41delTCT (p.Leu14del) deletion Benign rs139192915 GRCh37 Chromosome 3, 69171497: 69171499
36 LMOD3 NM_198271.4(LMOD3): c.671A> G (p.Asp224Gly) single nucleotide variant Uncertain significance rs898638017 GRCh38 Chromosome 3, 69119684: 69119684
37 LMOD3 NM_198271.4(LMOD3): c.671A> G (p.Asp224Gly) single nucleotide variant Uncertain significance rs898638017 GRCh37 Chromosome 3, 69168835: 69168835
38 LMOD3 NM_198271.4(LMOD3): c.642G> A (p.Ser214=) single nucleotide variant Benign rs9815992 GRCh38 Chromosome 3, 69119713: 69119713
39 LMOD3 NM_198271.4(LMOD3): c.642G> A (p.Ser214=) single nucleotide variant Benign rs9815992 GRCh37 Chromosome 3, 69168864: 69168864
40 LMOD3 NM_198271.4(LMOD3): c.426A> C (p.Glu142Asp) single nucleotide variant Benign rs111848977 GRCh37 Chromosome 3, 69169080: 69169080
41 LMOD3 NM_198271.4(LMOD3): c.426A> C (p.Glu142Asp) single nucleotide variant Benign rs111848977 GRCh38 Chromosome 3, 69119929: 69119929
42 LMOD3 NM_198271.4(LMOD3): c.1144C> T (p.Pro382Ser) single nucleotide variant Benign rs74350755 GRCh37 Chromosome 3, 69168362: 69168362
43 LMOD3 NM_198271.4(LMOD3): c.416A> G (p.Asn139Ser) single nucleotide variant Uncertain significance rs150380359 GRCh37 Chromosome 3, 69169090: 69169090
44 LMOD3 NM_198271.4(LMOD3): c.416A> G (p.Asn139Ser) single nucleotide variant Uncertain significance rs150380359 GRCh38 Chromosome 3, 69119939: 69119939
45 LMOD3 NM_198271.4(LMOD3): c.252_253delGCinsAA (p.Met84_Leu85delinsIleMet) indel Benign GRCh38 Chromosome 3, 69122134: 69122135
46 LMOD3 NM_198271.4(LMOD3): c.252_253delGCinsAA (p.Met84_Leu85delinsIleMet) indel Benign GRCh37 Chromosome 3, 69171285: 69171286
47 LMOD3 NM_198271.4(LMOD3): c.186G> A (p.Pro62=) single nucleotide variant Likely benign rs757791893 GRCh37 Chromosome 3, 69171352: 69171352
48 LMOD3 NM_198271.4(LMOD3): c.186G> A (p.Pro62=) single nucleotide variant Likely benign rs757791893 GRCh38 Chromosome 3, 69122201: 69122201
49 LMOD3 NM_198271.4(LMOD3): c.1270T> C (p.Leu424=) single nucleotide variant Benign rs72924884 GRCh37 Chromosome 3, 69168236: 69168236
50 LMOD3 NM_198271.4(LMOD3): c.1270T> C (p.Leu424=) single nucleotide variant Benign rs72924884 GRCh38 Chromosome 3, 69119085: 69119085

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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