MFM7
MCID: MYP119
MIFTS: 30

Myopathy, Myofibrillar, 7 (MFM7)

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

Aliases & Classifications for Myopathy, Myofibrillar, 7

MalaCards integrated aliases for Myopathy, Myofibrillar, 7:

Name: Myopathy, Myofibrillar, 7 56 73 29 6
Myofibrillar Myopathy 7 12 15
Mfm7 56 73
Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in early childhood
three patients from 2 unrelated consanguineous families have been reported (last curated september 2016)


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Myopathy, Myofibrillar, 7

UniProtKB/Swiss-Prot : 73 Myopathy, myofibrillar, 7: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM7 is an autosomal recessive form, clinically characterized by early childhood onset of slowly progressive muscle weakness and mild atrophy primarily affecting the lower limbs, associated with joint contractures.

MalaCards based summary : Myopathy, Myofibrillar, 7, also known as myofibrillar myopathy 7, is related to congenital muscular dystrophy-dystroglycanopathy a14 and leukodystrophy, hypomyelinating, 10. An important gene associated with Myopathy, Myofibrillar, 7 is KY (Kyphoscoliosis Peptidase). Affiliated tissues include tongue and skeletal muscle, and related phenotypes are kyphosis and elevated serum creatine kinase

Disease Ontology : 12 A myofibrillar myopathy that has material basis in homozygous mutation in the KY gene on chromosome 3q22.

OMIM : 56 Myofibrillar myopathy-7 is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness primary affecting the lower limbs and associated with joint contractures (summary by Straussberg et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (617114)

Related Diseases for Myopathy, Myofibrillar, 7

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 7:



Diseases related to Myopathy, Myofibrillar, 7

Symptoms & Phenotypes for Myopathy, Myofibrillar, 7

Human phenotypes related to Myopathy, Myofibrillar, 7:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 kyphosis 31 HP:0002808
2 elevated serum creatine kinase 31 HP:0003236
3 skeletal muscle atrophy 31 HP:0003202
4 hyperlordosis 31 HP:0003307
5 achilles tendon contracture 31 HP:0001771
6 elbow flexion contracture 31 HP:0002987
7 spinal rigidity 31 HP:0003306
8 talipes equinovarus 31 HP:0001762
9 facial palsy 31 HP:0010628
10 hyporeflexia 31 HP:0001265
11 difficulty walking 31 HP:0002355
12 inability to walk 31 HP:0002540

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
kyphosis
lordosis
rigid spine

Muscle Soft Tissue:
difficulty walking
muscle atrophy
atrophic fibers
inability to walk on heels
z-disc streaming
more
Laboratory Abnormalities:
increased serum creatine kinase

Skeletal Feet:
pes equinovarus

Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Face:
facial muscle weakness

Skeletal Limbs:
elbow contractures
achilles tendon contractures

Head And Neck Mouth:
atrophy of the lateral margins of the tongue

Clinical features from OMIM:

617114

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell–culture–derived Hepatitis C virus (HCVcc; Luc–Jc1) infection GR00234-A-2 8.62 EPHB1 SPEG

Drugs & Therapeutics for Myopathy, Myofibrillar, 7

Search Clinical Trials , NIH Clinical Center for Myopathy, Myofibrillar, 7

Genetic Tests for Myopathy, Myofibrillar, 7

Genetic tests related to Myopathy, Myofibrillar, 7:

# Genetic test Affiliating Genes
1 Myopathy, Myofibrillar, 7 29 KY

Anatomical Context for Myopathy, Myofibrillar, 7

MalaCards organs/tissues related to Myopathy, Myofibrillar, 7:

40
Tongue, Skeletal Muscle

Publications for Myopathy, Myofibrillar, 7

Articles related to Myopathy, Myofibrillar, 7:

# Title Authors PMID Year
1
A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency. 56 6
27485408 2016
2
Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. 6 56
27484770 2016
3
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 6
25313375 2014
4
BAG3-related myofibrillar myopathy in a Chinese family. 6
21361913 2012
5
Myofibrillar Myopathy – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301672 2005
6
The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein. 56
11136708 2001

Variations for Myopathy, Myofibrillar, 7

ClinVar genetic disease variations for Myopathy, Myofibrillar, 7:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KY NM_178554.6(KY):c.405C>A (p.Tyr135Ter)SNV Pathogenic 254181 rs377332009 3:134343973-134343973 3:134625131-134625131
2 KY NM_178554.6(KY):c.1071del (p.Thr358fs)deletion Pathogenic 254182 rs886037917 3:134327510-134327510 3:134608668-134608668

Expression for Myopathy, Myofibrillar, 7

Search GEO for disease gene expression data for Myopathy, Myofibrillar, 7.

Pathways for Myopathy, Myofibrillar, 7

GO Terms for Myopathy, Myofibrillar, 7

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

# Name GO ID Score Top Affiliating Genes
1 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 8.62 CEP63 CCDC78

Sources for Myopathy, Myofibrillar, 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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