NEM7
MCID: NML010
MIFTS: 25

Nemaline Myopathy 7 (NEM7)

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

Aliases & Classifications for Nemaline Myopathy 7

MalaCards integrated aliases for Nemaline Myopathy 7:

Name: Nemaline Myopathy 7 57 12 74 29 13 6 72
Nemaline Myopathy 7, Autosomal Recessive 57 12 74 29
Nem7 57 12 74
Cfl2-Related Nemaline Myopathy 74
Myopathy, Nemaline, Type 7 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in early childhood
two unrelated families have been reported (last curated august 2013)


HPO:

32
nemaline myopathy 7:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0110934
MeSH 44 D017696
MedGen 42 C1853154
UMLS 72 C1853154

Summaries for Nemaline Myopathy 7

OMIM : 57 Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by Ockeloen et al., 2012). For a discussion of genetic heterogeneity of nemaline myopathy, see 161800. (610687)

MalaCards based summary : Nemaline Myopathy 7, is also known as nemaline myopathy 7, autosomal recessive. An important gene associated with Nemaline Myopathy 7 is CFL2 (Cofilin 2). Affiliated tissues include skeletal muscle, and related phenotypes are respiratory insufficiency due to muscle weakness and high palate

Disease Ontology : 12 A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has material basis in homozygous mutation in the CFL2 gene on chromosome 14q13.

UniProtKB/Swiss-Prot : 74 Nemaline myopathy 7: 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. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved.

Related Diseases for Nemaline Myopathy 7

Symptoms & Phenotypes for Nemaline Myopathy 7

Human phenotypes related to Nemaline Myopathy 7:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency due to muscle weakness 32 occasional (7.5%) HP:0002747
2 high palate 32 HP:0000218
3 muscular hypotonia 32 HP:0001252
4 gait disturbance 32 HP:0001288
5 muscle weakness 32 HP:0001324
6 generalized hypotonia 32 HP:0001290
7 areflexia 32 HP:0001284
8 nemaline bodies 32 HP:0003798
9 joint hypermobility 32 HP:0001382
10 neck muscle weakness 32 HP:0000467
11 gowers sign 32 HP:0003391
12 delayed gross motor development 32 HP:0002194
13 myofibrillar myopathy 32 HP:0003715
14 minicore myopathy 32 HP:0003789

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
areflexia

Head And Neck Neck:
neck muscle weakness

Neurologic Central Nervous System:
delayed motor development
abnormal gait
loss of independent ambulation (in some patients)

Respiratory:
respiratory insufficiency due to muscle weakness (in some patients)

Skeletal:
joint hypermobility

Muscle Soft Tissue:
hypotonia
type 1 fiber predominance
gower sign
muscle weakness, mainly proximal and axial
fiber type variation seen on biopsy
more
Head And Neck Mouth:
high-arched palate

Clinical features from OMIM:

610687

Drugs & Therapeutics for Nemaline Myopathy 7

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 7

Genetic Tests for Nemaline Myopathy 7

Genetic tests related to Nemaline Myopathy 7:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 7 29 CFL2
2 Nemaline Myopathy 7, Autosomal Recessive 29

Anatomical Context for Nemaline Myopathy 7

MalaCards organs/tissues related to Nemaline Myopathy 7:

41
Skeletal Muscle

Publications for Nemaline Myopathy 7

Articles related to Nemaline Myopathy 7:

# Title Authors PMID Year
1
Congenital myopathy caused by a novel missense mutation in the CFL2 gene. 8 71
22560515 2012
2
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. 8 71
17160903 2007
3
Clinical utility gene card for: nemaline myopathy. 71
22510848 2012
4
Nemaline Myopathy 71
20301465 2002
5
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 38
23394784 2013

Variations for Nemaline Myopathy 7

ClinVar genetic disease variations for Nemaline Myopathy 7:

6 (show all 13)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CFL2 NM_138638.5(CFL2): c.103G> A (p.Ala35Thr) single nucleotide variant Pathogenic rs80358250 14:35182668-35182668 14:34713462-34713462
2 CFL2 NC_000014.8: g.(?_35179578)_(35182892_?)del deletion Pathogenic 14:35179578-35182892 14:34710372-34713686
3 CFL2 NM_138638.5(CFL2): c.19G> A (p.Val7Met) single nucleotide variant Uncertain significance rs397515451 14:35182752-35182752 14:34713546-34713546
4 CFL2 NM_138638.5(CFL2): c.457T> G (p.Leu153Val) single nucleotide variant Uncertain significance rs587780312 14:35182115-35182115 14:34712909-34712909
5 CFL2 NM_138638.5(CFL2): c.388G> C (p.Gly130Arg) single nucleotide variant Uncertain significance 14:35182266-35182266 14:34713060-34713060
6 CFL2 NC_000014.8: g.(?_35182051)_(35183766_?)dup duplication Uncertain significance 14:35182051-35183766 14:34712845-34714560
7 CFL2 NC_000014.8: g.(?_35182051)_(35183766_?)del deletion Uncertain significance 14:35182051-35183766 14:34712845-34714560
8 CFL2 NM_138638.5(CFL2): c.471_473AGT[1] (p.Val159del) short repeat Uncertain significance 14:35182096-35182098 14:34712892-34712894
9 CFL2 NM_138638.5(CFL2): c.328C> T (p.Pro110Ser) single nucleotide variant Uncertain significance 14:35182326-35182326 14:34713120-34713120
10 CFL2 NM_138638.5(CFL2): c.54G> A (p.Met18Ile) single nucleotide variant Uncertain significance 14:35182717-35182717 14:34713511-34713511
11 CFL2 NM_138638.5(CFL2): c.255C> T (p.Tyr85=) single nucleotide variant Likely benign rs1057523939 14:35182516-35182516 14:34713310-34713310
12 CFL2 NM_021914.7(CFL2): c.389-9delT deletion Likely benign rs1555333750 14:35182192-35182192 14:34712986-34712986
13 CFL2 NM_138638.5(CFL2): c.357C> T (p.Ser119=) single nucleotide variant Likely benign rs1250346386 14:35182297-35182297 14:34713091-34713091

UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 7:

74
# Symbol AA change Variation ID SNP ID
1 CFL2 p.Ala35Thr VAR_031989 rs80358250

Expression for Nemaline Myopathy 7

Search GEO for disease gene expression data for Nemaline Myopathy 7.

Pathways for Nemaline Myopathy 7

GO Terms for Nemaline Myopathy 7

Sources for Nemaline Myopathy 7

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73 UMLS via Orphanet
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