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 58 76 30 6
Mfm7 58 76
Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome 60
Myofibrillar Myopathy 7 12

Characteristics:

OMIM:

58
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:

33
myopathy, myofibrillar, 7:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Myopathy, Myofibrillar, 7

UniProtKB/Swiss-Prot : 76 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 : 58 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:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 kyphosis 33 HP:0002808
2 hyperlordosis 33 HP:0003307
3 facial palsy 33 HP:0010628
4 skeletal muscle atrophy 33 HP:0003202
5 inability to walk 33 HP:0002540
6 achilles tendon contracture 33 HP:0001771
7 elbow flexion contracture 33 HP:0002987
8 spinal rigidity 33 HP:0003306
9 talipes equinovarus 33 HP:0001762
10 difficulty walking 33 HP:0002355
11 hyporeflexia 33 HP:0001265
12 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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 30 KY

Anatomical Context for Myopathy, Myofibrillar, 7

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

42
Tongue, Skeletal Muscle

Publications for Myopathy, Myofibrillar, 7

Articles related to Myopathy, Myofibrillar, 7:

# Title Authors Year
1
Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. ( 27484770 )
2016
2
A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency. ( 27485408 )
2016

Variations for Myopathy, Myofibrillar, 7

ClinVar genetic disease variations for Myopathy, Myofibrillar, 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KY NM_178554.4(KY): c.405C> A (p.Tyr135Ter) single nucleotide variant Pathogenic rs377332009 GRCh37 Chromosome 3, 134343973: 134343973
2 KY NM_178554.4(KY): c.405C> A (p.Tyr135Ter) single nucleotide variant Pathogenic rs377332009 GRCh38 Chromosome 3, 134625131: 134625131
3 KY NM_178554.4(KY): c.1071delG (p.Thr358Leufs) deletion Pathogenic rs886037917 GRCh37 Chromosome 3, 134327510: 134327510
4 KY NM_178554.4(KY): c.1071delG (p.Thr358Leufs) deletion Pathogenic rs886037917 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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