NEM7
MCID: NML010
MIFTS: 38

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 56 12 73 29 13 6 15 71
Nemaline Myopathy 7, Autosomal Recessive 56 12 73 29
Nem7 56 12 73
Cfl2-Related Nemaline Myopathy 73
Myopathy, Nemaline, Type 7 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
nemaline myopathy 7:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0110934
OMIM 56 610687
OMIM Phenotypic Series 56 PS161800
MeSH 43 D017696
MedGen 41 C1853154
UMLS 71 C1853154

Summaries for Nemaline Myopathy 7

OMIM : 56 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, also known as nemaline myopathy 7, autosomal recessive, is related to congenital structural myopathy and congenital fiber-type disproportion. An important gene associated with Nemaline Myopathy 7 is CFL2 (Cofilin 2), and among its related pathways/superpathways are Metabolism of nucleotides and Gap junction. Affiliated tissues include skeletal muscle and bone, and related phenotypes are respiratory insufficiency due to muscle weakness and gait disturbance

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 : 73 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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency due to muscle weakness 31 occasional (7.5%) HP:0002747
2 gait disturbance 31 HP:0001288
3 high palate 31 HP:0000218
4 muscular hypotonia 31 HP:0001252
5 muscle weakness 31 HP:0001324
6 delayed gross motor development 31 HP:0002194
7 generalized hypotonia 31 HP:0001290
8 areflexia 31 HP:0001284
9 nemaline bodies 31 HP:0003798
10 joint hypermobility 31 HP:0001382
11 neck muscle weakness 31 HP:0000467
12 gowers sign 31 HP:0003391
13 myofibrillar myopathy 31 HP:0003715
14 minicore myopathy 31 HP:0003789

Symptoms via clinical synopsis from OMIM:

56
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:
gowers sign
hypotonia
type 1 fiber predominance
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

GenomeRNAi Phenotypes related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.8 GUCY1A2 POLR2C POLR2D

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:

40
Skeletal Muscle, Bone

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. 56 6
22560515 2012
2
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. 56 6
17160903 2007
3
Clinical utility gene card for: nemaline myopathy. 6
22510848 2012
4
Nemaline Myopathy 6
20301465 2002
5
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 61
23394784 2013

Variations for Nemaline Myopathy 7

ClinVar genetic disease variations for Nemaline Myopathy 7:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFL2 NM_138638.5(CFL2):c.103G>A (p.Ala35Thr)SNV Pathogenic 8160 rs80358250 14:35182668-35182668 14:34713462-34713462
2 CFL2 NC_000014.8:g.(?_35179578)_(35182892_?)deldeletion Pathogenic 657372 14:35179578-35182892 14:34710372-34713686
3 CFL2 NM_138638.5(CFL2):c.338del (p.Ser113fs)deletion Pathogenic 800930 14:35182316-35182316 14:34713110-34713110
4 CFL2 NM_138638.5(CFL2):c.19G>A (p.Val7Met)SNV Uncertain significance 60554 rs397515451 14:35182752-35182752 14:34713546-34713546
5 CFL2 NM_138638.5(CFL2):c.457T>G (p.Leu153Val)SNV Uncertain significance 128713 rs587780312 14:35182115-35182115 14:34712909-34712909
6 CFL2 NM_138638.5(CFL2):c.388G>C (p.Gly130Arg)SNV Uncertain significance 583009 rs1566525113 14:35182266-35182266 14:34713060-34713060
7 CFL2 NC_000014.8:g.(?_35182051)_(35183766_?)dupduplication Uncertain significance 583711 14:35182051-35183766 14:34712845-34714560
8 CFL2 NC_000014.8:g.(?_35182051)_(35183766_?)deldeletion Uncertain significance 583485 14:35182051-35183766 14:34712845-34714560
9 CFL2 NM_138638.5(CFL2):c.471_473AGT[1] (p.Val159del)short repeat Uncertain significance 662117 14:35182096-35182098 14:34712890-34712892
10 CFL2 NM_138638.5(CFL2):c.328C>T (p.Pro110Ser)SNV Uncertain significance 650607 14:35182326-35182326 14:34713120-34713120
11 CFL2 NM_138638.5(CFL2):c.54G>A (p.Met18Ile)SNV Uncertain significance 661578 14:35182717-35182717 14:34713511-34713511
12 CFL2 NM_138638.5(CFL2):c.255C>T (p.Tyr85=)SNV Likely benign 390982 rs1057523939 14:35182516-35182516 14:34713310-34713310
13 CFL2 NM_138638.5(CFL2):c.389-9deldeletion Likely benign 465805 rs1555333750 14:35182192-35182192 14:34712986-34712986

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

73
# 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

Pathways related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.93 GUCY1B1 GUCY1A2 CTPS2 CTPS1
2 11.45 GUCY1B1 GUCY1A2
3 11.42 POLR2D POLR2C
4 11.32 GUCY1B1 GUCY1A2
5 11.23 GUCY1B1 GUCY1A2
6 11.16 POLR2D POLR2C
7
Show member pathways
11.09 POLR2D POLR2C
8
Show member pathways
10.99 GUCY1B1 GUCY1A2
9 10.78 POLR2D POLR2C
10 10.7 GUCY1B1 GUCY1A2
11 10.55 CTPS2 CTPS1
12 9.74 GUCY1B1 GUCY1A2

GO Terms for Nemaline Myopathy 7

Cellular components related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II, core complex GO:0005665 8.96 POLR2D POLR2C
2 cytoophidium GO:0097268 8.62 CTPS2 CTPS1

Biological processes related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene silencing by miRNA GO:0060964 9.57 POLR2D POLR2C
2 fibroblast growth factor receptor signaling pathway GO:0008543 9.56 POLR2D POLR2C
3 transcription-coupled nucleotide-excision repair GO:0006283 9.55 POLR2D POLR2C
4 transcription elongation from RNA polymerase II promoter GO:0006368 9.54 POLR2D POLR2C
5 snRNA transcription by RNA polymerase II GO:0042795 9.52 POLR2D POLR2C
6 somatic stem cell population maintenance GO:0035019 9.51 POLR2D POLR2C
7 RNA metabolic process GO:0016070 9.49 POLR2D POLR2C
8 7-methylguanosine mRNA capping GO:0006370 9.48 POLR2D POLR2C
9 positive regulation of viral transcription GO:0050434 9.46 POLR2D POLR2C
10 nucleobase-containing small molecule interconversion GO:0015949 9.43 CTPS2 CTPS1
11 glutamine metabolic process GO:0006541 9.4 CTPS2 CTPS1
12 cyclic nucleotide biosynthetic process GO:0009190 9.37 GUCY1B1 GUCY1A2
13 CTP biosynthetic process GO:0006241 9.32 CTPS2 CTPS1
14 cGMP biosynthetic process GO:0006182 9.26 GUCY1B1 GUCY1A2
15 pyrimidine nucleotide biosynthetic process GO:0006221 9.16 CTPS2 CTPS1
16 pyrimidine nucleobase biosynthetic process GO:0019856 8.96 CTPS2 CTPS1
17 'de novo' CTP biosynthetic process GO:0044210 8.62 CTPS2 CTPS1

Molecular functions related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-directed 5'-3' RNA polymerase activity GO:0003899 9.26 POLR2D POLR2C
2 phosphorus-oxygen lyase activity GO:0016849 9.16 GUCY1B1 GUCY1A2
3 guanylate cyclase activity GO:0004383 8.96 GUCY1B1 GUCY1A2
4 CTP synthase activity GO:0003883 8.62 CTPS2 CTPS1

Sources for Nemaline Myopathy 7

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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