MFM7
MCID: MYP119
MIFTS: 25

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 57 74 29 6
Mfm7 57 74
Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome 59
Myofibrillar Myopathy 7 12

Characteristics:

OMIM:

57
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:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080098
MeSH 44 D020914
Orphanet 59 ORPHA496686

Summaries for Myopathy, Myofibrillar, 7

UniProtKB/Swiss-Prot : 74 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, is also known as mfm7. 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 hyperlordosis

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

OMIM : 57 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

Symptoms & Phenotypes for Myopathy, Myofibrillar, 7

Human phenotypes related to Myopathy, Myofibrillar, 7:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 kyphosis 32 HP:0002808
2 hyperlordosis 32 HP:0003307
3 facial palsy 32 HP:0010628
4 skeletal muscle atrophy 32 HP:0003202
5 inability to walk 32 HP:0002540
6 achilles tendon contracture 32 HP:0001771
7 elbow flexion contracture 32 HP:0002987
8 spinal rigidity 32 HP:0003306
9 talipes equinovarus 32 HP:0001762
10 difficulty walking 32 HP:0002355
11 hyporeflexia 32 HP:0001265
12 elevated serum creatine kinase 32 HP:0003236

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
kyphosis
lordosis
rigid spine

Neurologic Peripheral Nervous System:
hyporeflexia

Laboratory Abnormalities:
increased serum creatine kinase

Skeletal Feet:
pes equinovarus

Muscle Soft Tissue:
difficulty walking
muscle atrophy
atrophic fibers
inability to walk on heels
z-disc streaming
more
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

MGI Mouse Phenotypes related to Myopathy, Myofibrillar, 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 8.8 CEP63 EPHB1 KY

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:

41
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. 8 71
27485408 2016
2
Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. 8 71
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. 71
25313375 2014
4
BAG3-related myofibrillar myopathy in a Chinese family. 71
21361913 2012
5
Myofibrillar Myopathy 71
20301672 2005
6
The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein. 8
11136708 2001

Variations for Myopathy, Myofibrillar, 7

ClinVar genetic disease variations for Myopathy, Myofibrillar, 7:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KY NM_178554.6(KY): c.405C> A (p.Tyr135Ter) single nucleotide variant Pathogenic rs377332009 3:134343973-134343973 3:134625131-134625131
2 KY NM_178554.6(KY): c.1071del (p.Thr358fs) deletion Pathogenic 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

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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