MPD3
MCID: MYP112
MIFTS: 28

Myopathy, Distal, 3 (MPD3)

Categories: Bone diseases, 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 57
Mpd3 57 12 58
Distal Muscular Dystrophy 3 12 15
Distal Myopathy Type 3 12 58
Myopathy, Distal 3 13 70
Finnish Upper Limb-Onset Distal Myopathy 58
Distal Myopathy 3 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset age 32 to 45 years


HPO:

31
myopathy, distal, 3:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111189
OMIM® 57 610099
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C1864706
Orphanet 58 ORPHA399086
MedGen 41 C1864706
UMLS 70 C1864706

Summaries for Myopathy, Distal, 3

Disease Ontology : 12 A distal muscular dystrophy that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22.

MalaCards based summary : Myopathy, Distal, 3, also known as mpd3, 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). Affiliated tissues include skeletal muscle, and related phenotypes are emg: myopathic abnormalities and rimmed vacuoles

More information from OMIM: 610099

Related Diseases for Myopathy, Distal, 3

Symptoms & Phenotypes for Myopathy, Distal, 3

Human phenotypes related to Myopathy, Distal, 3:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
2 rimmed vacuoles 58 31 frequent (33%) Frequent (79-30%) HP:0003805
3 steppage gait 58 31 frequent (33%) Frequent (79-30%) HP:0003376
4 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
5 mildly elevated creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0008180
6 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
7 distal sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002936
8 intrinsic hand muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008954
9 joint contracture of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009473
10 fatty replacement of skeletal muscle 58 31 frequent (33%) Frequent (79-30%) HP:0012548
11 weakness of the intrinsic hand muscles 58 31 frequent (33%) Frequent (79-30%) HP:0009005
12 amyotrophy of ankle musculature 58 31 frequent (33%) Frequent (79-30%) HP:0009031
13 progressive distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009063
14 split hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0001171
15 progressive proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009073
16 muscular dystrophy 31 HP:0003560
17 cardiomyopathy 58 Excluded (0%)
18 distal muscle weakness 31 HP:0002460
19 distal amyotrophy 31 HP:0003693
20 late-onset proximal muscle weakness 31 HP:0003694
21 abnormal foot morphology 31 HP:0001760

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
steppage gait
clumsiness
myopathic changes seen on emg
dystrophic changes seen on muscle biopsy
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 (Updated 05-Apr-2021)

UMLS symptoms related to Myopathy, Distal, 3:


clumsiness

MGI Mouse Phenotypes related to Myopathy, Distal, 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 ANK1 ANO5 CASQ1 MATR3 MYL1

Drugs & Therapeutics for Myopathy, Distal, 3

Search Clinical Trials , 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:

40
Skeletal Muscle

Publications for Myopathy, Distal, 3

Articles related to Myopathy, Distal, 3:

# Title Authors PMID Year
1
Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3). 61 57
15036327 2004
2
A distinct phenotype of distal myopathy in a large Finnish family. 57
12847162 2003
3
Computational identification of natural product leads that inhibit mast cell chymase: an exclusive plausible treatment for Japanese encephalitis. 61
32036760 2021
4
Structure-Based Virtual Screening Identifies Multiple Stable Binding Sites at the RecA Domains of SARS-CoV-2 Helicase Enzyme. 61
33800013 2021
5
Computational Determination of Potential Multiprotein Targeting Natural Compounds for Rational Drug Design Against SARS-COV-2. 61
33525411 2021
6
MPD3: a useful medicinal plants database for drug designing. 61
27681445 2017
7
Well-coupled graphene and Pd-based bimetallic nanocrystals nanocomposites for electrocatalytic oxygen reduction reaction. 61
24392753 2014
8
[Structures of peptides related to the inactivation gate on sodium channels]. 61
12510389 2002

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

Cellular components related to Myopathy, Distal, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.26 CASQ1 ANK1
2 sarcolemma GO:0042383 9.16 CASQ1 ANK1
3 sarcoplasmic reticulum GO:0016529 8.96 CASQ1 ANK1
4 myofibril GO:0030016 8.62 MYL1 CASQ1

Sources for Myopathy, Distal, 3

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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