MCID: NML003
MIFTS: 31

Nemaline Myopathy 2

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

Aliases & Classifications for Nemaline Myopathy 2

MalaCards integrated aliases for Nemaline Myopathy 2:

Name: Nemaline Myopathy 2 57 12 75 29 6 73
Nemaline Myopathy 2, Autosomal Recessive 57 12 29 13 6
Nem2 57 12 75
Neb-Related Nemaline Myopathy 75
Myopathy, Nemaline, Type 2 40
Nemaline Myopathy, Type 2 76

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
extraocular muscles are not involved
highly variable severity, ranging from 'typical' to 'severe' disease
slowly progressive or nonprogressive course
many adults with typical form remain ambulatory
death at birth or within first 2 years of life (severe form)


HPO:

32
nemaline myopathy 2:
Onset and clinical course infantile onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Nemaline Myopathy 2

OMIM : 57 Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006). (256030)

MalaCards based summary : Nemaline Myopathy 2, also known as nemaline myopathy 2, autosomal recessive, is related to nemaline myopathy and myopathy, and has symptoms including waddling gait, facial paresis and generalized muscle weakness. An important gene associated with Nemaline Myopathy 2 is NEB (Nebulin). Affiliated tissues include skeletal muscle and eye, and related phenotypes are low-set ears and high palate

Disease Ontology : 12 A nemaline myopathy that has material basis in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.

UniProtKB/Swiss-Prot : 75 Nemaline myopathy 2: A 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.

Related Diseases for Nemaline Myopathy 2

Symptoms & Phenotypes for Nemaline Myopathy 2

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
dysphagia
poor feeding

Respiratory:
respiratory insufficiency due to muscle weakness
absence of spontaneous respiration (severe form)

Neurologic Central Nervous System:
areflexia
hyporeflexia
delayed motor development
absent gag reflex
slow gross motor activity
more
Head And Neck Mouth:
high-arched palate
cleft palate (severe form)

Head And Neck Neck:
neck flexor muscle weakness

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (severe form)
fetal hydrops (severe form)

Chest External Features:
chest deformities

Head And Neck Eyes:
hypertelorism (severe form)

Skeletal Feet:
talipes (severe form)

Skeletal Spine:
hyperlordosis
scoliosis (onset around puberty)
rigid spine

Muscle Soft Tissue:
type 1 muscle fiber predominance
frequent falls
neck muscle weakness
facial muscle weakness
distal limb muscle weakness occurs later
more
Head And Neck Face:
myopathic facies
facial muscle weakness
long philtrum (severe form)

Skeletal:
joint contractures
joint deformities (may develop over time)
arthrogryposis (severe form)

Prenatal Manifestations Movement:
decreased fetal movement (severe form)

Laboratory Abnormalities:
normal or mildly increased serum creatine kinase

Head And Neck Ears:
low-set ears (severe form)

Skeletal Hands:
clenched hands (severe form)


Clinical features from OMIM:

256030

Human phenotypes related to Nemaline Myopathy 2:

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 high palate 32 HP:0000218
3 dysphagia 32 HP:0002015
4 scoliosis 32 HP:0002650
5 hyperlordosis 32 HP:0003307
6 facial palsy 32 HP:0010628
7 neonatal hypotonia 32 HP:0001319
8 flexion contracture 32 HP:0001371
9 abnormality of the eye 32 HP:0000478
10 respiratory insufficiency due to muscle weakness 32 HP:0002747
11 generalized muscle weakness 32 HP:0003324
12 cleft palate 32 HP:0000175
13 feeding difficulties 32 HP:0011968
14 apnea 32 HP:0002104
15 arthrogryposis multiplex congenita 32 HP:0002804
16 nemaline bodies 32 HP:0003798
17 type 1 muscle fiber predominance 32 HP:0003803
18 slender build 32 HP:0001533
19 polyhydramnios 32 HP:0001561
20 areflexia 32 HP:0001284
21 hyporeflexia 32 HP:0001265
22 decreased fetal movement 32 HP:0001558
23 spinal rigidity 32 HP:0003306
24 mildly elevated creatine phosphokinase 32 HP:0008180
25 motor delay 32 HP:0001270
26 myopathic facies 32 HP:0002058
27 frequent falls 32 HP:0002359
28 limb muscle weakness 32 HP:0003690
29 proximal muscle weakness 32 HP:0003701
30 bulbar palsy 32 HP:0001283
31 waddling gait 32 HP:0002515
32 neck flexor weakness 32 HP:0003722
33 abnormality of the rib cage 32 HP:0001547
34 emg 32 HP:0003445
35 late-onset distal muscle weakness 32 HP:0003810

UMLS symptoms related to Nemaline Myopathy 2:


waddling gait, facial paresis, generalized muscle weakness

Drugs & Therapeutics for Nemaline Myopathy 2

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 2

Genetic Tests for Nemaline Myopathy 2

Genetic tests related to Nemaline Myopathy 2:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 2 29 NEB
2 Nemaline Myopathy 2, Autosomal Recessive 29

Anatomical Context for Nemaline Myopathy 2

MalaCards organs/tissues related to Nemaline Myopathy 2:

41
Skeletal Muscle, Eye

Publications for Nemaline Myopathy 2

Articles related to Nemaline Myopathy 2:

# Title Authors Year
1
Nemaline Myopathy Type 2 (NEM2): Two Novel Mutations in the Nebulin (NEB) Gene. ( 24056153 )
2013

Variations for Nemaline Myopathy 2

ClinVar genetic disease variations for Nemaline Myopathy 2:

6
(show top 50) (show all 1201)
# Gene Variation Type Significance SNP ID Assembly Location
1 NEB NM_001271208.1(NEB): c.22746delG (p.Met7582Ilefs) deletion Pathogenic rs1057515573 GRCh37 Chromosome 2, 152375533: 152375533
2 NEB NM_001271208.1(NEB): c.22746delG (p.Met7582Ilefs) deletion Pathogenic rs1057515573 GRCh38 Chromosome 2, 151519019: 151519019
3 NEB NM_001271208.1(NEB): c.23500_23503dupGTTT (p.Leu7835Cysfs) duplication Pathogenic rs1057515574 GRCh37 Chromosome 2, 152364572: 152364575
4 NEB NM_001271208.1(NEB): c.23500_23503dupGTTT (p.Leu7835Cysfs) duplication Pathogenic rs1057515574 GRCh38 Chromosome 2, 151508058: 151508061
5 NEB NEB, 2-BP DEL, AG, EX172 deletion Pathogenic
6 NEB NEB, 2-BP DEL, GA, EX181 deletion Pathogenic
7 NEB NM_001271208.1(NEB): c.25279G> T (p.Glu8427Ter) single nucleotide variant Pathogenic rs121913662 GRCh37 Chromosome 2, 152347009: 152347009
8 NEB NM_001271208.1(NEB): c.25279G> T (p.Glu8427Ter) single nucleotide variant Pathogenic rs121913662 GRCh38 Chromosome 2, 151490495: 151490495
9 NEB NM_001271208.1(NEB): c.22584+1G> C single nucleotide variant Pathogenic rs1057515575 GRCh37 Chromosome 2, 152380824: 152380824
10 NEB NM_001271208.1(NEB): c.22584+1G> C single nucleotide variant Pathogenic rs1057515575 GRCh38 Chromosome 2, 151524310: 151524310
11 NEB NM_004543.4(NEB): c.7432-2025_7536+372del2502 deletion Pathogenic rs80358246 GRCh37 Chromosome 2, 152502272: 152504773
12 NEB NM_004543.4(NEB): c.7432-2025_7536+372del2502 deletion Pathogenic rs80358246 GRCh38 Chromosome 2, 151645758: 151648259
13 NEB NM_001271208.1(NEB): c.1152+1G> A single nucleotide variant Pathogenic rs398124167 GRCh37 Chromosome 2, 152563394: 152563394
14 NEB NM_001271208.1(NEB): c.1152+1G> A single nucleotide variant Pathogenic rs398124167 GRCh38 Chromosome 2, 151706880: 151706880
15 NEB NM_001271208.1(NEB): c.8031_8041delAAATAAACGAG (p.Lys2677Asnfs) deletion Pathogenic/Likely pathogenic rs398124172 GRCh37 Chromosome 2, 152499783: 152499793
16 NEB NM_001271208.1(NEB): c.8031_8041delAAATAAACGAG (p.Lys2677Asnfs) deletion Pathogenic/Likely pathogenic rs398124172 GRCh38 Chromosome 2, 151643269: 151643279
17 NEB NM_001271208.1(NEB): c.19712_19716delCTTATinsGAG (p.Ala6571Glyfs) indel Pathogenic rs587780397 GRCh37 Chromosome 2, 152409927: 152409931
18 NEB NM_001271208.1(NEB): c.19712_19716delCTTATinsGAG (p.Ala6571Glyfs) indel Pathogenic rs587780397 GRCh38 Chromosome 2, 151553413: 151553417
19 NEB NM_004543.4(NEB): c.3567+1G> A single nucleotide variant Pathogenic rs587780399 GRCh37 Chromosome 2, 152534389: 152534389
20 NEB NM_004543.4(NEB): c.3567+1G> A single nucleotide variant Pathogenic rs587780399 GRCh38 Chromosome 2, 151677875: 151677875
21 NEB NM_001271208.1(NEB): c.23372T> C (p.Met7791Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201767727 GRCh37 Chromosome 2, 152369326: 152369326
22 NEB NM_001271208.1(NEB): c.23372T> C (p.Met7791Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201767727 GRCh38 Chromosome 2, 151512812: 151512812
23 NEB NM_004543.4(NEB): c.13427G> A (p.Arg4476His) single nucleotide variant Conflicting interpretations of pathogenicity rs147159176 GRCh37 Chromosome 2, 152420386: 152420386
24 NEB NM_004543.4(NEB): c.13427G> A (p.Arg4476His) single nucleotide variant Conflicting interpretations of pathogenicity rs147159176 GRCh38 Chromosome 2, 151563872: 151563872
25 NEB NM_001271208.1(NEB): c.1211C> T (p.Thr404Ile) single nucleotide variant Uncertain significance rs200585609 GRCh37 Chromosome 2, 152554104: 152554104
26 NEB NM_001271208.1(NEB): c.1211C> T (p.Thr404Ile) single nucleotide variant Uncertain significance rs200585609 GRCh38 Chromosome 2, 151697590: 151697590
27 NEB NM_001271208.1(NEB): c.23868G> C (p.Leu7956Phe) single nucleotide variant Uncertain significance rs201028196 GRCh37 Chromosome 2, 152359935: 152359935
28 NEB NM_001271208.1(NEB): c.23868G> C (p.Leu7956Phe) single nucleotide variant Uncertain significance rs201028196 GRCh38 Chromosome 2, 151503421: 151503421
29 NEB NM_001271208.1(NEB): c.19626T> C (p.Asp6542=) single nucleotide variant Conflicting interpretations of pathogenicity rs190336010 GRCh37 Chromosome 2, 152410342: 152410342
30 NEB NM_001271208.1(NEB): c.19626T> C (p.Asp6542=) single nucleotide variant Conflicting interpretations of pathogenicity rs190336010 GRCh38 Chromosome 2, 151553828: 151553828
31 NEB NM_001271208.1(NEB): c.2832C> T (p.Ser944=) single nucleotide variant Conflicting interpretations of pathogenicity rs114076205 GRCh37 Chromosome 2, 152541295: 152541295
32 NEB NM_001271208.1(NEB): c.2832C> T (p.Ser944=) single nucleotide variant Conflicting interpretations of pathogenicity rs114076205 GRCh38 Chromosome 2, 151684781: 151684781
33 NEB NM_001271208.1(NEB): c.1413C> T (p.Phe471=) single nucleotide variant Conflicting interpretations of pathogenicity rs112958786 GRCh37 Chromosome 2, 152553719: 152553719
34 NEB NM_001271208.1(NEB): c.1413C> T (p.Phe471=) single nucleotide variant Conflicting interpretations of pathogenicity rs112958786 GRCh38 Chromosome 2, 151697205: 151697205
35 NEB NM_004543.4(NEB): c.3987+1_3987+2delGTinsTG indel Pathogenic/Likely pathogenic rs786204576 GRCh38 Chromosome 2, 151674475: 151674476
36 NEB NM_004543.4(NEB): c.3987+1_3987+2delGTinsTG indel Pathogenic/Likely pathogenic rs786204576 GRCh37 Chromosome 2, 152530989: 152530990
37 NEB NM_004543.4(NEB): c.2784delT (p.Asp929Ilefs) deletion Pathogenic/Likely pathogenic rs786204430 GRCh37 Chromosome 2, 152541343: 152541343
38 NEB NM_004543.4(NEB): c.2784delT (p.Asp929Ilefs) deletion Pathogenic/Likely pathogenic rs786204430 GRCh38 Chromosome 2, 151684829: 151684829
39 NEB NM_001271208.1(NEB): c.20671C> T (p.Leu6891Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs182866658 GRCh37 Chromosome 2, 152397972: 152397972
40 NEB NM_001271208.1(NEB): c.20671C> T (p.Leu6891Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs182866658 GRCh38 Chromosome 2, 151541458: 151541458
41 NEB NM_004543.4(NEB): c.863A> G (p.Lys288Arg) single nucleotide variant Benign/Likely benign rs202035863 GRCh37 Chromosome 2, 152567012: 152567012
42 NEB NM_004543.4(NEB): c.863A> G (p.Lys288Arg) single nucleotide variant Benign/Likely benign rs202035863 GRCh38 Chromosome 2, 151710498: 151710498
43 NEB NM_001271208.1(NEB): c.21790G> C (p.Asp7264His) single nucleotide variant Conflicting interpretations of pathogenicity rs201979610 GRCh37 Chromosome 2, 152385774: 152385774
44 NEB NM_001271208.1(NEB): c.21790G> C (p.Asp7264His) single nucleotide variant Conflicting interpretations of pathogenicity rs201979610 GRCh38 Chromosome 2, 151529260: 151529260
45 NEB NM_001271208.1(NEB): c.21856C> G (p.Gln7286Glu) single nucleotide variant Uncertain significance rs373946758 GRCh37 Chromosome 2, 152384084: 152384084
46 NEB NM_001271208.1(NEB): c.21856C> G (p.Gln7286Glu) single nucleotide variant Uncertain significance rs373946758 GRCh38 Chromosome 2, 151527570: 151527570
47 NEB NM_001271208.1(NEB): c.22110G> A (p.Thr7370=) single nucleotide variant Conflicting interpretations of pathogenicity rs201400523 GRCh37 Chromosome 2, 152382717: 152382717
48 NEB NM_001271208.1(NEB): c.22110G> A (p.Thr7370=) single nucleotide variant Conflicting interpretations of pathogenicity rs201400523 GRCh38 Chromosome 2, 151526203: 151526203
49 NEB NM_001271208.1(NEB): c.23009G> A (p.Gly7670Glu) single nucleotide variant Benign/Likely benign rs3732309 GRCh37 Chromosome 2, 152372974: 152372974
50 NEB NM_001271208.1(NEB): c.23009G> A (p.Gly7670Glu) single nucleotide variant Benign/Likely benign rs3732309 GRCh38 Chromosome 2, 151516460: 151516460

Expression for Nemaline Myopathy 2

Search GEO for disease gene expression data for Nemaline Myopathy 2.

Pathways for Nemaline Myopathy 2

GO Terms for Nemaline Myopathy 2

Cellular components related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.62 NEB RIF1

Sources for Nemaline Myopathy 2

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17 ExPASy
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74 UMLS via Orphanet
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