Aliases & Classifications for Distal Muscular Dystrophy

MalaCards integrated aliases for Distal Muscular Dystrophy:

Name: Distal Muscular Dystrophy 12 52 14
Distal Myopathies 52 42
Distal Myopathy 12 29
Distal Muscular Dystrophies 69
Miyoshi Muscular Dystrophy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11720
ICD10 33 G71.0
MeSH 42 D049310
NCIt 47 C84675
SNOMED-CT 64 58795000
SNOMED-CT via HPO 65 129565002
UMLS 69 C0751336

Summaries for Distal Muscular Dystrophy

MalaCards based summary : Distal Muscular Dystrophy, also known as distal myopathies, is related to miyoshi muscular dystrophy 3 and miyoshi muscular dystrophy 1, and has symptoms including myopathy An important gene associated with Distal Muscular Dystrophy is DYSF (Dysferlin), and among its related pathways/superpathways are Cardiac conduction and Smooth Muscle Contraction. The drugs Antibodies and gamma-Globulins have been mentioned in the context of this disorder. Related phenotypes are Decreased viability and cardiovascular system

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 67)
id Related Disease Score Top Affiliating Genes
1 miyoshi muscular dystrophy 3 34.5 ANO5 DYSF
2 miyoshi muscular dystrophy 1 31.5 CAPN3 DYSF
3 laing distal myopathy 12.4
4 welander distal myopathy 10.9
5 tibial muscular dystrophy, tardive 10.8
6 lopes gorlin syndrome 10.6 DMD DYSF
7 scn1b-related generalized epilepsy with febrile seizures plus 10.6 DMD DYSF
8 segawa syndrome, recessive 10.5 DMD DYSF
9 cubitus valgus with mental retardation and unusual facies 10.4 DMD GNE
10 muscular dystrophy 10.4
11 creatine phosphokinase, elevated serum 10.4 CAV3 DYSF
12 deafness, autosomal dominant 50 10.4 CAV3 MYOT
13 parkinsonism with spasticity, x-linked 10.4 DMD PIK3C2A
14 dermatofibrosarcoma protuberans 10.3 DMD GNE
15 schizophrenia 16 10.3 CAV3 MYOT
16 congenital myopathy 10.3 DMD TTN
17 glomerulonephritis 10.3 DMD PIK3C2A
18 myopathy, spheroid body 10.2 MYOT TTN
19 autosomal recessive limb-girdle muscular dystrophy type 2b 10.2 CAV3 MYOT
20 glycogen storage disease 0, muscle 10.2 CAV3 DMD
21 adrenal carcinoma 10.1 ANO5 DYSF PIK3C2A
22 craniofrontonasal dysplasia 10.1 DMD DYSF
23 microcephaly and chorioretinopathy 1 10.1 DMD DYSF MYH7
24 hypertrophic cardiomyopathy 21 10.1 CAPN3 DYSF
25 anonychia congenita 10.1 CAPN3 DMD
26 acetyl-coa carboxylase deficiency 10.1 CAPN3 DYSF
27 efemp2-related cutis laxa 10.1 CAPN3 DYSF
28 laryngitis 10.0 PIK3C2A TTN
29 cataract 16, multiple types 10.0 DMD MYH7 MYOT
30 autistic disorder 10.0 PIK3C2A TTN
31 cylindrical spirals myopathy 10.0 DMD MYH7
32 myopathy, distal, tateyama type 10.0 CAV3 DMD PIK3C2A
33 peroxisomal biogenesis disorders 10.0 MYH7 TTN
34 spongiotic dermatitis 9.9 DMD GNE TTN
35 nkx2-1-related disorders 9.9 DMD MYOT TTN
36 hereditary angioedema 9.9 DMD TTN
37 metaphyseal chondrodysplasia, murk jansen type 9.9 CAV3 DYSF TTN
38 autosomal recessive limb-girdle muscular dystrophy type 2h 9.9 CAPN3 DYSF
39 ventricular tachycardia, catecholaminergic polymorphic, 1 9.9 MYH7 PIK3C2A
40 pulmonary hypertension, primary, 2 9.9 CAPN3 DMD DYSF
41 ullrich congenital muscular dystrophy 1 9.8 CAPN3 DMD DYSF
42 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 9.8 DMD MYH7 TTN
43 autoimmune disease of skin and connective tissue 9.8 DMD MYH7 TTN
44 cardiomyopathy, hypertrophic, 25 9.8 CAPN3 DYSF MYOT
45 myopathy 9.8
46 progressive muscular dystrophy 9.8
47 autoimmune thyroid disease 2 9.7 MYH7 MYOT TTN
48 multiple endocrine neoplasia 9.7 CAPN3 CAV3 DMD
49 myelodysplastic myeloproliferative cancer 9.7 CAV3 PIK3C2A TTN
50 myopathy, myofibrillar, 3 9.6 CAPN3 CAV3 MYOT

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:

32
id Description HPO Frequency HPO Source Accession
1 myopathy 32 frequent (33%) HP:0003198

GenomeRNAi Phenotypes related to Distal Muscular Dystrophy according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.55 PIK3C2A
2 Decreased viability GR00221-A-1 9.55 GNE PIK3C2A
3 Decreased viability GR00221-A-2 9.55 TTN PIK3C2A
4 Decreased viability GR00221-A-3 9.55 GNE
5 Decreased viability GR00221-A-4 9.55 TTN DYSF GNE PIK3C2A
6 Decreased viability GR00240-S-1 9.55 PIK3C2A
7 Decreased viability GR00301-A 9.55 DYSF
8 Decreased viability GR00342-S-1 9.55 TTN PIK3C2A
9 Decreased viability GR00342-S-2 9.55 PIK3C2A
10 Decreased viability GR00342-S-3 9.55 TTN PIK3C2A

MGI Mouse Phenotypes related to Distal Muscular Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 TTN CAPN3 CAV3 DMD GNE MYH7
2 muscle MP:0005369 9.5 CAPN3 CAV3 DMD DYSF GNE MYH7
3 no phenotypic analysis MP:0003012 9.02 CAPN3 DMD DYSF MYH7 MYOT

Drugs & Therapeutics for Distal Muscular Dystrophy

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

(show all 7)
id 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
6
Menthol Approved 2216-51-5 16666
7 Pharmaceutical Solutions

Interventional clinical trials:

(show all 17)

id 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 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
10 Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy Completed NCT00195637 Phase 1 Immune Globulin
11 Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01634750 Phase 1 ManNAc
12 Upper Limb Assessment in Duchenne Muscular Dystrophy Unknown status NCT02436720
13 The Effect of Aerobic Exercise, on Fitness and Functional Muscle Strength, in Patients With Muscular Dystrophy Completed NCT01895283
14 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
15 A Natural History Study of Patients With GNE Myopathy Recruiting NCT01417533
16 Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders Recruiting NCT01459302
17 User-centred Assistive System for Arm Functions in Neuromuscular Subjects Recruiting NCT03127241

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:

id Genetic test Affiliating Genes
1 Distal Myopathy 29

Anatomical Context for Distal Muscular Dystrophy

Publications for Distal Muscular Dystrophy

Articles related to Distal Muscular Dystrophy:

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

GO Terms for Distal Muscular Dystrophy

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

id Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 9.54 ANO5 CAV3 PIK3C2A
2 myofibril GO:0030016 9.43 CAPN3 DMD MYH7
3 muscle myosin complex GO:0005859 9.4 MYH7 TTN
4 T-tubule GO:0030315 9.33 CAPN3 CAV3 DYSF
5 dystrophin-associated glycoprotein complex GO:0016010 9.32 CAV3 DMD
6 sarcolemma GO:0042383 9.26 CAV3 DMD DYSF MYOT
7 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 12)
id Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.65 CAPN3 CAV3 DMD
2 sarcomere organization GO:0045214 9.51 CAPN3 TTN
3 cardiac muscle contraction GO:0060048 9.5 DMD MYH7 TTN
4 striated muscle contraction GO:0006941 9.49 MYH7 TTN
5 plasma membrane repair GO:0001778 9.46 CAV3 DYSF
6 nucleus localization GO:0051647 9.43 CAV3 DMD
7 muscle filament sliding GO:0030049 9.43 DMD MYH7 TTN
8 detection of muscle stretch GO:0035995 9.4 CAV3 TTN
9 regulation of skeletal muscle contraction GO:0014819 9.37 CAV3 DMD
10 regulation of heart rate GO:0002027 9.33 CAV3 DMD MYH7
11 muscle cell cellular homeostasis GO:0046716 9.13 CAPN3 CAV3 DMD
12 muscle contraction GO:0006936 9.02 CAV3 DYSF MYH7 MYOT TTN

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

id Name GO ID Score Top Affiliating Genes
1 protein complex scaffold GO:0032947 9.16 CAPN3 CAV3
2 nitric-oxide synthase binding GO:0050998 8.96 CAV3 DMD
3 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....