MPD6
MCID: MYP158
MIFTS: 16

Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant (MPD6)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant

MalaCards integrated aliases for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant:

Name: Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant 56 6
Myopathy, Distal, 6, Adult Onset 56
Mpd6 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
adult onset (range 38 to 63 years)


Classifications:



External Ids:

OMIM 56 618655

Summaries for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant

OMIM : 56 Autosomal dominant adult-onset distal myopathy-6 (MPD6) is a muscle disorder characterized by slowly progressive distal muscle weakness, primarily affecting the lower limbs and resulting in gait difficulties. Some patients develop involvement of proximal and upper limb muscles (summary by Savarese et al., 2019) (618655)

MalaCards based summary : Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant, is also known as myopathy, distal, 6, adult onset. An important gene associated with Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant is ACTN2 (Actinin Alpha 2). Affiliated tissues include skeletal muscle and bone.

Related Diseases for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant

Symptoms & Phenotypes for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
myopathy
rimmed vacuoles
autophagic vacuoles
foot drop
type 1 fiber predominance
more
Laboratory Abnormalities:
increased serum creatine kinase (in some patients)

Clinical features from OMIM:

618655

Drugs & Therapeutics for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant

Genetic Tests for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant

Anatomical Context for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant

MalaCards organs/tissues related to Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant:

40
Skeletal Muscle, Bone

Publications for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant

Articles related to Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant:

# Title Authors PMID Year
1
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations. 56 6
30900782 2019
2
An unconventional antigen translated by a novel internal ribosome entry site elicits antitumor humoral immune reactions. 61
16982933 2006

Variations for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant

ClinVar genetic disease variations for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTN2 NM_001103.3(ACTN2):c.392T>C (p.Leu131Pro)SNV Pathogenic 694347 1:236883435-236883435 1:236720135-236720135
2 ACTN2 NM_001103.3(ACTN2):c.1459T>C (p.Cys487Arg)SNV Pathogenic 694348 1:236911019-236911019 1:236747719-236747719

Expression for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant

Search GEO for disease gene expression data for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant.

Pathways for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant

GO Terms for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant

Sources for Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant

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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