MFM7
MCID: MYP119
MIFTS: 33

Myopathy, Myofibrillar, 7 (MFM7)

Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases

Aliases & Classifications for Myopathy, Myofibrillar, 7

MalaCards integrated aliases for Myopathy, Myofibrillar, 7:

Name: Myopathy, Myofibrillar, 7 57 72 29 6
Myofibrillar Myopathy 7 12 15
Mfm7 57 72
Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome 58
Myopathy, Myofibrillar, Type 7 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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 : 72 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 spinocerebellar ataxia, autosomal recessive 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 facial palsy

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 (MFM7) is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness that primarily affects the lower limbs and is 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) (Updated 05-Apr-2021)

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

(showing 5, show less)
# Title Authors PMID Year
1
Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy. 57 6
30591934 2018
2
A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency. 57 6
27485408 2016
3
Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. 57 6
27484770 2016
4
The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein. 57
11136708 2001
5
A novel homozygous KY variant causing a complex neurological disorder. 61
32818658 2020

Variations for Myopathy, Myofibrillar, 7

ClinVar genetic disease variations for Myopathy, Myofibrillar, 7:

6 (showing 6, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EPHB1 , CEP63 , KY NM_178554.6(KY):c.1071del (p.Thr358fs) Deletion Pathogenic 254182 rs886037917 GRCh37: 3:134327510-134327510
GRCh38: 3:134608668-134608668
2 EPHB1 , CEP63 , KY NM_178554.6(KY):c.405C>A (p.Tyr135Ter) SNV Pathogenic 254181 rs377332009 GRCh37: 3:134343973-134343973
GRCh38: 3:134625131-134625131
3 EPHB1 , CEP63 , KY NM_178554.6(KY):c.415C>T (p.Arg139Ter) SNV Pathogenic 997854 GRCh37: 3:134343963-134343963
GRCh38: 3:134625121-134625121
4 EPHB1 , CEP63 , KY NM_178554.6(KY):c.1818_1819del (p.Lys606fs) Deletion Pathogenic 1032558 GRCh37: 3:134322588-134322589
GRCh38: 3:134603746-134603747
5 EPHB1 , CEP63 , KY NM_178554.6(KY):c.1901G>T (p.Cys634Phe) SNV Uncertain significance 1032559 GRCh37: 3:134322506-134322506
GRCh38: 3:134603664-134603664
6 EPHB1 , CEP63 , KY NM_178554.6(KY):c.884C>G (p.Ser295Cys) SNV Uncertain significance 1031310 GRCh37: 3:134329052-134329052
GRCh38: 3:134610210-134610210

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

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

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.4 PYROXD1 NPL MYO9A MORC2 LIMS2 KY

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 8.96 CEP63 CCDC78
2 cell junction assembly GO:0034329 8.8 MYO9A LIMS2 FLNC

Sources for Myopathy, Myofibrillar, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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