Aliases & Classifications for Distal Muscular Dystrophy

MalaCards integrated aliases for Distal Muscular Dystrophy:

Name: Distal Muscular Dystrophy 12 51 14
Distal Myopathy 12 72 28
Distal Muscular Dystrophies 36 69
Distal Myopathies 51 41
Miyoshi Muscular Dystrophy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11720
ICD10 32 G71.0
MeSH 41 D049310
NCIt 46 C84675
SNOMED-CT 64 58795000
KEGG 36 H00594
SNOMED-CT via HPO 65 129565002
UMLS 69 C0751336

Summaries for Distal Muscular Dystrophy

MalaCards based summary : Distal Muscular Dystrophy, also known as distal myopathy, is related to miyoshi muscular dystrophy 1 and muscular dystrophy, and has symptoms including myopathy An important gene associated with Distal Muscular Dystrophy is MPD3 (Myopathy, Distal 3), and among its related pathways/superpathways are Amino sugar and nucleotide sugar metabolism and Cardiac muscle contraction. The drugs Antibodies and gamma-Globulins have been mentioned in the context of this disorder. Related phenotypes are cardiovascular system and muscle

Wikipedia : 72 Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the... more...

Related Diseases for Distal Muscular Dystrophy

Diseases related to Distal Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 miyoshi muscular dystrophy 1 31.9 CAPN3 DYSF
2 muscular dystrophy 28.4 ANO5 CAPN3 CAV3 DMD DYSF MYOT
3 myopathy 26.3 ANO5 CAPN3 CAV3 DMD DYSF GNE
4 welander distal myopathy 11.0
5 tibial muscular dystrophy 11.0
6 localized lipodystrophy 10.4 DMD DYSF
7 anterior compartment syndrome 10.4 ANO5 DYSF
8 muscular dystrophy, limb-girdle, type 2l 10.3 ANO5 DYSF
9 stormorken syndrome 10.3 DMD DYSF
10 autosomal recessive limb-girdle muscular dystrophy type 2f 10.2 CAPN3 DYSF
11 muscular dystrophy, limb-girdle, type 1c 10.2 CAV3 DYSF
12 muscular dystrophy, becker type 10.2 DMD DYSF
13 myopathy, x-linked, with excessive autophagy 10.2 DMD GNE
14 polyglucosan body myopathy 1 with or without immunodeficiency 10.2 CAPN3 DMD
15 muscular dystrophy, limb-girdle, type 2d 10.2 CAPN3 DYSF
16 creatine phosphokinase, elevated serum 10.2 CAV3 DMD
17 dysferlinopathy 10.2 CAPN3 DYSF
18 rippling muscle disease 2 10.2 CAV3 DYSF
19 muscular dystrophy-dystroglycanopathy , type b, 6 10.2 DMD GNE
20 muscular dystrophy, limb-girdle, type 1f 10.1 CAV3 MYOT
21 muscular dystrophy, limb-girdle, type 1e 10.1 CAV3 MYOT
22 muscular dystrophy, limb-girdle, type 2c 10.1 CAPN3 DMD DYSF
23 autosomal dominant limb-girdle muscular dystrophy 10.0 CAV3 MYOT
24 bethlem myopathy 1 10.0 CAPN3 DMD DYSF
25 cardioneuromyopathy with hyaline masses and nemaline rods 10.0 DMD TTN
26 muscular dystrophy-dystroglycanopathy , type b, 5 10.0 CAV3 DMD
27 autosomal recessive limb-girdle muscular dystrophy type 2h 10.0 CAPN3 DYSF MYOT
28 autosomal dominant limb-girdle muscular dystrophy type 1c 10.0 CAV3 DYSF MYOT
29 reducing body myopathy 10.0 DMD TTN
30 congenital fiber-type disproportion 10.0 DMD DYSF MYH7
31 muscular dystrophy, limb-girdle, type 2g 10.0 CAPN3 DYSF MYOT
32 isolated hyperckemia 9.9 CAPN3 CAV3 DMD
33 myopathy, congenital 9.9 DMD MYH7
34 myopathy, myofibrillar, 3 9.9 MYOT TTN
35 myopathy, myofibrillar, 2 9.9 DMD MYH7 MYOT
36 atrial standstill 1 9.8 DMD MYH7 MYOT
37 cardiomyopathy, familial hypertrophic, 1 9.8 CAV3 MYH7
38 muscular dystrophy, limb-girdle, type 1a 9.8 CAPN3 CAV3 MYOT
39 neuromuscular disease 9.7 DMD GNE TTN
40 myofibrillar myopathy 9.7 DMD MYOT TTN
41 muscular dystrophy, limb-girdle, type 2h 9.7 CAPN3 DYSF TTN
42 muscular dystrophy-dystroglycanopathy , type c, 5 9.7 CAPN3 DYSF TTN
43 peripartum cardiomyopathy 9.7 MYH7 TTN
44 autosomal recessive limb-girdle muscular dystrophy type 2b 9.7 ANO5 CAPN3 CAV3 DYSF
45 centronuclear myopathy 9.7 DMD TTN
46 muscular dystrophy, duchenne type 9.6 CAV3 DMD TTN
47 familial isolated dilated cardiomyopathy 9.6 DMD MYH7 TTN
48 intrinsic cardiomyopathy 9.6 DMD MYH7 TTN
49 muscular dystrophy, limb-girdle, type 2j 9.6 CAPN3 MYOT TTN
50 myopathy, spheroid body 9.5 MYH7 MYOT TTN

Graphical network of the top 20 diseases related to Distal Muscular Dystrophy:



Diseases related to Distal Muscular Dystrophy

Symptoms & Phenotypes for Distal Muscular Dystrophy

Human phenotypes related to Distal Muscular Dystrophy:

31
# Description HPO Frequency HPO Source Accession
1 myopathy 31 frequent (33%) HP:0003198

MGI Mouse Phenotypes related to Distal Muscular Dystrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 CAPN3 CAV3 DMD GNE MYH7 TTN
2 muscle MP:0005369 9.5 CAV3 DMD DYSF GNE MYH7 TTN
3 no phenotypic analysis MP:0003012 9.02 DMD DYSF MYH7 MYOT CAPN3

Drugs & Therapeutics for Distal Muscular Dystrophy

Drugs for Distal Muscular Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 1
2 gamma-Globulins Phase 1
3 Immunoglobulins Phase 1
4 Immunoglobulins, Intravenous Phase 1
5 Rho(D) Immune Globulin Phase 1

Interventional clinical trials:

(show all 14)

# Name Status NCT ID Phase Drugs
1 Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT02377921 Phase 3 Sialic Acid Tablets;Placebo Tablets
2 Study to Evaluate the Safety and Efficacy of Ace-ER Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Active, not recruiting NCT02736188 Phase 3 Aceneuramic Acid Extended-Release Tablets
3 A Phase 2 Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Completed NCT01517880 Phase 2 Sialic Acid Extended Release (SA-ER);Placebo
4 An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid (ER Tablets + IR Capsules) in Patients With GNE Myopathy Completed NCT01830972 Phase 2 6g/day SA-ER tablets;6g/day SA-ER tablets and 6g/day SA-IR capsules;12g/day SA-ER
5 A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER) Tablets in GNE Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy (HIBM)) Patients With Severe Ambulatory Impairment Active, not recruiting NCT02731690 Phase 2 Aceneuramic Acid Extended-Release Tablets
6 An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Active, not recruiting NCT02346461 Phase 1, Phase 2 ManNac.;ManNac
7 The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies Unknown status NCT00674843 Phase 1
8 Pharmacokinetic Study on N-acetylneuraminic Acid Completed NCT01236898 Phase 1 NPC-09
9 Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01634750 Phase 1 ManNAc
10 Safety and Pharmacokinetics of Sialic Acid Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01359319 Phase 1 Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tables;Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tablets
11 Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy Completed NCT00195637 Phase 1 Immune Globulin
12 GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Recruiting NCT01784679
13 A Natural History Study of Patients With GNE Myopathy Recruiting NCT01417533
14 Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders Recruiting NCT01459302

Search NIH Clinical Center for Distal Muscular Dystrophy

Cochrane evidence based reviews: distal myopathies

Genetic Tests for Distal Muscular Dystrophy

Genetic tests related to Distal Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Distal Myopathy 28

Anatomical Context for Distal Muscular Dystrophy

Publications for Distal Muscular Dystrophy

Articles related to Distal Muscular Dystrophy:

(show all 22)
# Title Authors Year
1
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy. ( 29073160 )
2017
2
Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy. ( 23530687 )
2013
3
Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study. ( 22980764 )
2012
4
Early onset distal muscular dystrophy with normal dysferlin expression. ( 16310593 )
2005
5
[A patient with distal muscular dystrophy without mutations in dysferlin gene but with abnormal dysferlin localization in muscle fibers]. ( 15568488 )
2004
6
Late-onset distal muscular dystrophy affecting the posterior calves. ( 14506716 )
2003
7
Distal muscular dystrophy of the Miyoshi type. ( 12908758 )
2003
8
An autosomal dominant early adult-onset distal muscular dystrophy. ( 11102913 )
2000
9
Characteristic form of standing up from squatting in Miyoshi's distal muscular dystrophy. ( 10622454 )
1999
10
Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. ( 9673985 )
1998
11
Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. ( 9397016 )
1997
12
Distal muscular dystrophy. Case reports. ( 9208214 )
1997
13
Distal muscular dystrophy of Miyoshi type. Report of two cases and review of the literature. ( 9007741 )
1997
14
Autosomal recessive distal muscular dystrophy. ( 9412850 )
1997
15
Early onset distal muscular dystrophy. ( 7573762 )
1995
16
Two patients with distal muscular dystrophy and autonomic nerve dysfunction. ( 8059932 )
1994
17
Autosomal recessive distal muscular dystrophy: normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers. ( 7836950 )
1994
18
Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. ( 3942856 )
1986
19
Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation. ( 3985587 )
1985
20
Distal muscular dystrophy. ( 4058478 )
1985
21
Distal muscular dystrophy with autosomal recessive inheritance. ( 6543900 )
1984
22
Distal muscular dystrophy in an English family. ( 5552164 )
1971

Variations for Distal Muscular Dystrophy

Expression for Distal Muscular Dystrophy

Search GEO for disease gene expression data for Distal Muscular Dystrophy.

Pathways for Distal Muscular Dystrophy

Pathways related to Distal Muscular Dystrophy according to KEGG:

36
# Name Kegg Source Accession
1 Amino sugar and nucleotide sugar metabolism hsa00520
2 Cardiac muscle contraction hsa04260
3 Tight junction hsa04530
4 Protein processing in endoplasmic reticulum hsa04141

GO Terms for Distal Muscular Dystrophy

Cellular components related to Distal Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myofibril GO:0030016 9.43 CAPN3 DMD MYH7
2 muscle myosin complex GO:0005859 9.37 MYH7 TTN
3 T-tubule GO:0030315 9.33 CAPN3 CAV3 DYSF
4 dystrophin-associated glycoprotein complex GO:0016010 9.32 CAV3 DMD
5 sarcolemma GO:0042383 9.26 CAV3 DMD DYSF MYOT
6 Z disc GO:0030018 9.1 CAPN3 CAV3 DMD MYH7 MYOT TTN

Biological processes related to Distal Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.65 CAPN3 CAV3 DMD
2 response to calcium ion GO:0051592 9.52 CAPN3 TTN
3 sarcomere organization GO:0045214 9.51 CAPN3 TTN
4 cardiac muscle contraction GO:0060048 9.5 DMD MYH7 TTN
5 striated muscle contraction GO:0006941 9.49 MYH7 TTN
6 plasma membrane repair GO:0001778 9.46 CAV3 DYSF
7 nucleus localization GO:0051647 9.43 CAV3 DMD
8 muscle filament sliding GO:0030049 9.43 DMD MYH7 TTN
9 detection of muscle stretch GO:0035995 9.4 CAV3 TTN
10 regulation of skeletal muscle contraction GO:0014819 9.37 CAV3 DMD
11 regulation of heart rate GO:0002027 9.33 CAV3 DMD MYH7
12 muscle cell cellular homeostasis GO:0046716 9.13 CAPN3 CAV3 DMD
13 muscle contraction GO:0006936 9.02 CAV3 DYSF MYH7 MYOT TTN

Molecular functions related to Distal Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.43 DMD MYH7 MYOT
2 protein complex scaffold activity GO:0032947 9.16 CAPN3 CAV3
3 nitric-oxide synthase binding GO:0050998 8.96 CAV3 DMD
4 structural constituent of muscle GO:0008307 8.92 CAPN3 DMD MYOT TTN

Sources for Distal Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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