MCID: MYP112
MIFTS: 22

Myopathy, Distal, 3

Categories: Neuronal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Myopathy, Distal, 3

MalaCards integrated aliases for Myopathy, Distal, 3:

Name: Myopathy, Distal, 3 57
Myopathy, Distal 3 57 13 73
Mpd3 57 59
Finnish Upper Limb-Onset Distal Myopathy 59
Distal Myopathy Type 3 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset age 32 to 45 years


HPO:

32
myopathy, distal, 3:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 610099
Orphanet 59 ORPHA399086
UMLS via Orphanet 74 C1864706
ICD10 via Orphanet 34 G71.0
MedGen 42 C1864706
UMLS 73 C1864706

Summaries for Myopathy, Distal, 3

MalaCards based summary : Myopathy, Distal, 3, also known as myopathy, distal 3, is related to distal 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 Micronutrients have been mentioned in the context of this disorder. Related phenotypes are abnormality of the foot and split hand

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 Nebulin-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 distal muscular dystrophy 11.3
2 myopathy 9.9

Symptoms & Phenotypes for Myopathy, Distal, 3

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Myopathy, Distal, 3:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 abnormality of the foot 32 HP:0001760
2 split hand 32 HP:0001171
3 clumsiness 32 HP:0002312
4 mildly elevated creatine phosphokinase 32 HP:0008180
5 late-onset proximal muscle weakness 32 HP:0003694
6 muscular dystrophy 32 HP:0003560
7 distal muscle weakness 32 HP:0002460
8 steppage gait 32 HP:0003376
9 rimmed vacuoles 32 HP:0003805
10 distal amyotrophy 32 HP:0003693
11 joint contracture of the hand 32 HP:0009473
12 emg 32 HP:0003458

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 Micronutrients Not Applicable
3 Pharmaceutical Solutions Not Applicable
4 Trace Elements 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....