MPD3
MCID: MYP112
MIFTS: 24

Myopathy, Distal, 3 (MPD3)

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

Aliases & Classifications for Myopathy, Distal, 3

MalaCards integrated aliases for Myopathy, Distal, 3:

Name: Myopathy, Distal, 3 58
Myopathy, Distal 3 58 13 74
Mpd3 58 60
Finnish Upper Limb-Onset Distal Myopathy 60
Distal Myopathy Type 3 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset age 32 to 45 years


HPO:

33
myopathy, distal, 3:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 610099
ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C1864706
Orphanet 60 ORPHA399086
MedGen 43 C1864706
UMLS 74 C1864706

Summaries for Myopathy, Distal, 3

MalaCards based summary : Myopathy, Distal, 3, also known as myopathy, distal 3, is related to miyoshi muscular dystrophy and myopathy, and has symptoms including clumsiness An important gene associated with Myopathy, Distal, 3 is MPD3 (Myopathy, Distal 3). The drugs Silicon and Nutrients have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are emg: myopathic abnormalities and rimmed vacuoles

Description from OMIM: 610099

Related Diseases for Myopathy, Distal, 3

Diseases in the Myopathy, Distal, Infantile-Onset family:

Myopathy, Distal, 1 Myopathy, Distal, 3
Myopathy, Distal, 4 Myopathy, Distal, 5
Cav3-Related Distal Myopathy Adult-Onset Distal Myopathy Due to Vcp Mutation
Klhl9-Related Early-Onset Distal Myopathy

Diseases related to Myopathy, Distal, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 miyoshi muscular dystrophy 11.5
2 myopathy 10.1

Symptoms & Phenotypes for Myopathy, Distal, 3

Human phenotypes related to Myopathy, Distal, 3:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
2 rimmed vacuoles 60 33 frequent (33%) Frequent (79-30%) HP:0003805
3 clumsiness 60 33 frequent (33%) Frequent (79-30%) HP:0002312
4 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
5 amyotrophy of ankle musculature 60 33 frequent (33%) Frequent (79-30%) HP:0009031
6 steppage gait 60 33 frequent (33%) Frequent (79-30%) HP:0003376
7 intrinsic hand muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008954
8 weakness of the intrinsic hand muscles 60 33 frequent (33%) Frequent (79-30%) HP:0009005
9 distal sensory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002936
10 progressive distal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009063
11 fatty replacement of skeletal muscle 60 33 frequent (33%) Frequent (79-30%) HP:0012548
12 joint contracture of the hand 60 33 frequent (33%) Frequent (79-30%) HP:0009473
13 mildly elevated creatine kinase 33 frequent (33%) HP:0008180
14 split hand 60 33 occasional (7.5%) Occasional (29-5%) HP:0001171
15 progressive proximal muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0009073
16 cardiomyopathy 60 Excluded (0%)
17 abnormality of the foot 33 HP:0001760
18 mildly elevated creatine phosphokinase 60 Frequent (79-30%)
19 late-onset proximal muscle weakness 33 HP:0003694
20 muscular dystrophy 33 HP:0003560
21 distal muscle weakness 33 HP:0002460
22 distal amyotrophy 33 HP:0003693

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
clumsiness
steppage gait
emg shows myopathic changes
muscle biopsy shows dystrophic changes
proximal muscle weakness occurs later
more
Skeletal Hands:
claw hands
contractures of the hands, mild
atrophy of thenar muscles
atrophy of intrinsic hand muscles

Laboratory Abnormalities:
normal or mildly increased serum creatine kinase

Skeletal Feet:
atrophy of intrinsic foot muscles

Clinical features from OMIM:

610099

UMLS symptoms related to Myopathy, Distal, 3:


clumsiness

Drugs & Therapeutics for Myopathy, Distal, 3

Drugs for Myopathy, Distal, 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silicon Approved, Investigational Not Applicable 7440-21-3 4082203
2 Nutrients Not Applicable
3 Trace Elements Not Applicable
4 Micronutrients Not Applicable
5 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Clinical and Subjective Performance of Three Different MPDS With Silicon Hydrogel Lenses Completed NCT01665612 Not Applicable

Search NIH Clinical Center for Myopathy, Distal, 3

Genetic Tests for Myopathy, Distal, 3

Anatomical Context for Myopathy, Distal, 3

MalaCards organs/tissues related to Myopathy, Distal, 3:

42
Skeletal Muscle

Publications for Myopathy, Distal, 3

Variations for Myopathy, Distal, 3

Expression for Myopathy, Distal, 3

Search GEO for disease gene expression data for Myopathy, Distal, 3.

Pathways for Myopathy, Distal, 3

GO Terms for Myopathy, Distal, 3

Sources for Myopathy, Distal, 3

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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