MYOSCO
MCID: MYP156
MIFTS: 18

Myopathy, Congenital, Progressive, with Scoliosis (MYOSCO)

Categories: Genetic diseases

Aliases & Classifications for Myopathy, Congenital, Progressive, with Scoliosis

MalaCards integrated aliases for Myopathy, Congenital, Progressive, with Scoliosis:

Name: Myopathy, Congenital, Progressive, with Scoliosis 56 73 29 6 39 17
Myosco 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
progressive disorder
patient 1 was the most severely affected and had extra-skeletal congenital anomalies


Classifications:



External Ids:

OMIM 56 618578
MeSH 43 D009135
MedGen 41 CN262312

Summaries for Myopathy, Congenital, Progressive, with Scoliosis

OMIM : 56 Progressive congenital myopathy with scoliosis (MYOSCO) is an autosomal recessive skeletal muscle disorder characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features (summary by Feichtinger et al., 2019). (618578)

MalaCards based summary : Myopathy, Congenital, Progressive, with Scoliosis, is also known as myosco. An important gene associated with Myopathy, Congenital, Progressive, with Scoliosis is PAX7 (Paired Box 7). Affiliated tissues include skeletal muscle.

UniProtKB/Swiss-Prot : 73 Myopathy, congenital, progressive, with scoliosis: An autosomal recessive muscular disorder characterized by infantile onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis and dysmorphic facial features. Disease severity is variable, ranging from mild to severe.

Related Diseases for Myopathy, Congenital, Progressive, with Scoliosis

Symptoms & Phenotypes for Myopathy, Congenital, Progressive, with Scoliosis

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss (patient 1)

Neurologic Peripheral Nervous System:
areflexia

Head And Neck Neck:
neck muscle weakness

Neurologic Central Nervous System:
delayed motor development
normal cognitive development
impaired gait, variable

Head And Neck Nose:
flat nose

Skeletal Spine:
scoliosis, progressive

Head And Neck Head:
dolichocephaly (patient 1)
plagiocephaly (patient 1)

Chest External Features:
bell-shaped thorax (patient 1)

Skeletal:
joint contractures (patient 1)

Head And Neck Eyes:
ptosis
nystagmus (patient 1)

Head And Neck Face:
triangular face
dysmorphic features, variable
hypotonic facies

Muscle Soft Tissue:
fibrosis
fatty replacement
atrophic muscle fibers
fiber type variation
hypotonia, axial, generalized
more
Head And Neck Mouth:
high-arched palate

Growth Height:
short stature (in some patients)

Growth Other:
poor overall growth (in some patients)

Respiratory:
respiratory insufficiency (patient 1)

Abdomen Gastrointestinal:
dysphagia (patient 1)
tube feeding (patient 1)

Clinical features from OMIM:

618578

Drugs & Therapeutics for Myopathy, Congenital, Progressive, with Scoliosis

Search Clinical Trials , NIH Clinical Center for Myopathy, Congenital, Progressive, with Scoliosis

Genetic Tests for Myopathy, Congenital, Progressive, with Scoliosis

Genetic tests related to Myopathy, Congenital, Progressive, with Scoliosis:

# Genetic test Affiliating Genes
1 Myopathy, Congenital, Progressive, with Scoliosis 29

Anatomical Context for Myopathy, Congenital, Progressive, with Scoliosis

MalaCards organs/tissues related to Myopathy, Congenital, Progressive, with Scoliosis:

40
Skeletal Muscle

Publications for Myopathy, Congenital, Progressive, with Scoliosis

Articles related to Myopathy, Congenital, Progressive, with Scoliosis:

# Title Authors PMID Year
1
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. 56 6
31092906 2019

Variations for Myopathy, Congenital, Progressive, with Scoliosis

ClinVar genetic disease variations for Myopathy, Congenital, Progressive, with Scoliosis:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAX7 NM_001135254.2(PAX7):c.433C>T (p.Arg145Ter)SNV Pathogenic 689506 1:18961716-18961716 1:18635222-18635222
2 PAX7 NM_001135254.2(PAX7):c.86-1G>ASNV Pathogenic 689507 1:18960796-18960796 1:18634302-18634302
3 PAX7 NM_001135254.2(PAX7):c.166C>T (p.Arg56Cys)SNV Pathogenic 689509 1:18960877-18960877 1:18634383-18634383
4 PAX7 NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter)SNV Likely pathogenic 689508 1:18960931-18960931 1:18634437-18634437
5 PAX7 NM_001135254.2(PAX7):c.644G>A (p.Arg215His)SNV Uncertain significance 873482 1:19018305-19018305 1:18691811-18691811
6 PAX7 NM_001135254.2(PAX7):c.1402+91T>GSNV Uncertain significance 873483 1:19062463-19062463 1:18735969-18735969

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Congenital, Progressive, with Scoliosis:

73
# Symbol AA change Variation ID SNP ID
1 PAX7 p.Arg56Cys VAR_083265

Expression for Myopathy, Congenital, Progressive, with Scoliosis

Search GEO for disease gene expression data for Myopathy, Congenital, Progressive, with Scoliosis.

Pathways for Myopathy, Congenital, Progressive, with Scoliosis

GO Terms for Myopathy, Congenital, Progressive, with Scoliosis

Sources for Myopathy, Congenital, Progressive, with Scoliosis

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
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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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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