Nemaline Myopathy 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Nemaline Myopathy 7

MalaCards integrated aliases for Nemaline Myopathy 7:

Name: Nemaline Myopathy 7 ⁵⁷ ¹² ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Nemaline Myopathy 7, Autosomal Recessive ⁵⁷ ¹² ⁷⁵

Nem7 ⁵⁷ ¹² ⁷⁵

Cfl2-Related Nemaline Myopathy ⁷⁵

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:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Muscle diseases Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 610687

Disease Ontology ¹² DOID:0110934

MedGen ⁴² C1853154

MeSH ⁴⁴ D017696

SNOMED-CT via HPO ⁶⁹ 258211005 27272007 398151007 more

UMLS ⁷³ C1853154

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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 bone, and related phenotypes are high palate and muscular hypotonia

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 : ⁷⁵ 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.

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Related Diseases for Nemaline Myopathy 7

Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 3	Nemaline Myopathy 2
Nemaline Myopathy 5	Nemaline Myopathy 6
Nemaline Myopathy 1	Nemaline Myopathy 4
Nemaline Myopathy 7	Nemaline Myopathy 8
Nemaline Myopathy 9	Nemaline Myopathy 10
Nemaline Myopathy 11, Autosomal Recessive	Adult-Onset Nemaline Myopathy
Intermediate Congenital Nemaline Myopathy	Severe Congenital Nemaline Myopathy

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Symptoms & Phenotypes for Nemaline Myopathy 7

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal:
joint hypermobility

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)

Neurologic Peripheral Nervous System:
areflexia

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

Human phenotypes related to Nemaline Myopathy 7:

³² (show all 14)

#	Description	HPO Frequency	HPO Source Accession
1	high palate ³²		HP:0000218
2	muscular hypotonia ³²		HP:0001252
3	gait disturbance ³²		HP:0001288
4	muscle weakness ³²		HP:0001324
5	respiratory insufficiency due to muscle weakness ³²	occasional (7.5%)	HP:0002747
6	nemaline bodies ³²		HP:0003798
7	joint hypermobility ³²		HP:0001382
8	areflexia ³²		HP:0001284
9	generalized hypotonia ³²		HP:0001290
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

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Drugs & Therapeutics for Nemaline Myopathy 7

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 7

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Genetic Tests for Nemaline Myopathy 7

Genetic tests related to Nemaline Myopathy 7:

#	Genetic test	Affiliating Genes
1	Nemaline Myopathy 7 ²⁹	CFL2

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Anatomical Context for Nemaline Myopathy 7

MalaCards organs/tissues related to Nemaline Myopathy 7:

⁴¹

Bone

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Publications for Nemaline Myopathy 7

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Genes for Nemaline Myopathy 7

Genes related to Nemaline Myopathy 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CFL2	Cofilin 2	Protein Coding	1327.97	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	20301465 22510848 22560515 (more) 17160903

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Variations for Nemaline Myopathy 7

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

⁷⁵

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

ClinVar genetic disease variations for Nemaline Myopathy 7:

⁶ (show all 18)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CFL2	NM_138638.4(CFL2): c.103G> A (p.Ala35Thr)	single nucleotide variant	Pathogenic	rs80358250	GRCh37	Chromosome 14, 35182668: 35182668
2	CFL2	NM_138638.4(CFL2): c.103G> A (p.Ala35Thr)	single nucleotide variant	Pathogenic	rs80358250	GRCh38	Chromosome 14, 34713462: 34713462
3	CFL2	NM_138638.4(CFL2): c.19G> A (p.Val7Met)	single nucleotide variant	Uncertain significance	rs397515451	GRCh37	Chromosome 14, 35182752: 35182752
4	CFL2	NM_138638.4(CFL2): c.19G> A (p.Val7Met)	single nucleotide variant	Uncertain significance	rs397515451	GRCh38	Chromosome 14, 34713546: 34713546
5	CFL2	NM_021914.7(CFL2): c.457T> G (p.Leu153Val)	single nucleotide variant	Uncertain significance	rs587780312	GRCh37	Chromosome 14, 35182115: 35182115
6	CFL2	NM_021914.7(CFL2): c.457T> G (p.Leu153Val)	single nucleotide variant	Uncertain significance	rs587780312	GRCh38	Chromosome 14, 34712909: 34712909
7	CFL2	NM_021914.7(CFL2): c.255C> T (p.Tyr85=)	single nucleotide variant	Likely benign	rs1057523939	GRCh37	Chromosome 14, 35182516: 35182516
8	CFL2	NM_021914.7(CFL2): c.255C> T (p.Tyr85=)	single nucleotide variant	Likely benign	rs1057523939	GRCh38	Chromosome 14, 34713310: 34713310
9	CFL2	NM_021914.7(CFL2): c.389-9delT	deletion	Likely benign		GRCh37	Chromosome 14, 35182192: 35182192
10	CFL2	NM_021914.7(CFL2): c.389-9delT	deletion	Likely benign		GRCh38	Chromosome 14, 34712986: 34712986
11	CFL2	NM_021914.7(CFL2): c.357C> T (p.Ser119=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 14, 35182297: 35182297
12	CFL2	NM_021914.7(CFL2): c.357C> T (p.Ser119=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 14, 34713091: 34713091
13	CFL2	NM_021914.7(CFL2): c.388G> C (p.Gly130Arg)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 14, 35182266: 35182266
14	CFL2	NM_021914.7(CFL2): c.388G> C (p.Gly130Arg)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 14, 34713060: 34713060
15	CFL2	NC_000014.9: g.(?_34712845)_(34714560_?)dup	duplication	Uncertain significance		GRCh37	Chromosome 14, 35182051: 35183766
16	CFL2	NC_000014.9: g.(?_34712845)_(34714560_?)dup	duplication	Uncertain significance		GRCh38	Chromosome 14, 34712845: 34714560
17	CFL2	NC_000014.9: g.(?_34712845)_(34714560_?)del	deletion	Uncertain significance		GRCh38	Chromosome 14, 34712845: 34714560
18	CFL2	NC_000014.9: g.(?_34712845)_(34714560_?)del	deletion	Uncertain significance		GRCh37	Chromosome 14, 35182051: 35183766

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Expression for Nemaline Myopathy 7

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

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Pathways for Nemaline Myopathy 7

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GO Terms for Nemaline Myopathy 7

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Sources for Nemaline Myopathy 7

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁹ Cosmic

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

NEM7 MCID: NML010 MIFTS: 22	Nemaline Myopathy 7 (NEM7) Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

Nemaline Myopathy 7 (NEM7)

Aliases & Classifications for Nemaline Myopathy 7

MalaCards integrated aliases for Nemaline Myopathy 7:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Nemaline Myopathy 7

Related Diseases for Nemaline Myopathy 7

Diseases in the Nemaline Myopathy family:

Symptoms & Phenotypes for Nemaline Myopathy 7

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Nemaline Myopathy 7:

Drugs & Therapeutics for Nemaline Myopathy 7

Genetic Tests for Nemaline Myopathy 7

Genetic tests related to Nemaline Myopathy 7:

Anatomical Context for Nemaline Myopathy 7

MalaCards organs/tissues related to Nemaline Myopathy 7:

Publications for Nemaline Myopathy 7

Genes for Nemaline Myopathy 7

Genes related to Nemaline Myopathy 7 (1 elite genes):

Variations for Nemaline Myopathy 7

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

ClinVar genetic disease variations for Nemaline Myopathy 7:

Expression for Nemaline Myopathy 7

Pathways for Nemaline Myopathy 7

GO Terms for Nemaline Myopathy 7

Sources for Nemaline Myopathy 7