Aliases & Classifications for Distal Muscular Dystrophy

MalaCards integrated aliases for Distal Muscular Dystrophy:

Name: Distal Muscular Dystrophy 12 55 15
Distal Myopathy 12 76 37 29 6
Distal Myopathies 55 44
Distal Muscular Dystrophies 73
Miyoshi Muscular Dystrophy 12
Myopathy, Distal 40

Classifications:



External Ids:

Disease Ontology 12 DOID:11720
ICD10 33 G71.0
MeSH 44 D049310
NCIt 50 C84675
SNOMED-CT 68 58795000
KEGG 37 H00594
SNOMED-CT via HPO 69 129565002
UMLS 73 C0751336

Summaries for Distal Muscular Dystrophy

MalaCards based summary : Distal Muscular Dystrophy, also known as distal myopathy, is related to muscular dystrophy and 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. Affiliated tissues include skeletal muscle and myeloid, and related phenotypes are myopathy and cardiovascular system

Wikipedia : 76 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 68)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 26.4 ANO5 CAPN3 CAV3 DMD DYSF GNE
2 myopathy 24.2 ANO5 CAPN3 CAV3 DMD DYSF GNE
3 myopathy, distal, 1 12.3
4 myopathy, distal, 4 12.3
5 myopathy, distal, tateyama type 12.2
6 myopathy, distal, 5 12.2
7 myopathy, distal, with rimmed vacuoles 12.1
8 myopathy, distal, with anterior tibial onset 12.0
9 myopathy, distal, 3 12.0
10 myopathy, distal, infantile-onset 11.9
11 myopathy, distal, with early respiratory failure, autosomal dominant 11.9
12 miyoshi muscular dystrophy 1 11.0
13 welander distal myopathy 11.0
14 tibial muscular dystrophy 10.9
15 localized lipodystrophy 10.7 DMD DYSF
16 anterior compartment syndrome 10.6 ANO5 DYSF
17 muscular dystrophy, limb-girdle, type 2l 10.6 ANO5 DYSF
18 stormorken syndrome 10.4 DMD DYSF
19 autosomal recessive limb-girdle muscular dystrophy type 2f 10.4 CAPN3 DYSF
20 muscular dystrophy, limb-girdle, type 1c 10.4 CAV3 DYSF
21 myopathy, x-linked, with excessive autophagy 10.4 DMD GNE
22 polyglucosan body myopathy 1 with or without immunodeficiency 10.4 CAPN3 DMD
23 muscular dystrophy, becker type 10.3 DMD DYSF
24 muscular dystrophy-dystroglycanopathy , type b, 6 10.3 DMD GNE
25 muscular dystrophy, limb-girdle, type 2d 10.3 CAPN3 DYSF
26 rippling muscle disease 2 10.3 CAV3 DYSF
27 dysferlinopathy 10.3 CAPN3 DYSF
28 muscular dystrophy, limb-girdle, type 1f 10.2 CAV3 MYOT
29 muscular dystrophy, limb-girdle, type 1e 10.1 CAV3 MYOT
30 myofibrillar myopathy 10.1 DMD MYOT
31 muscular dystrophy, limb-girdle, type 2c 10.1 CAPN3 DMD DYSF
32 autosomal dominant limb-girdle muscular dystrophy 10.1 CAV3 MYOT
33 bethlem myopathy 1 10.0 CAPN3 DMD DYSF
34 creatine phosphokinase, elevated serum 10.0 ANO5 CAV3 DMD
35 cardioneuromyopathy with hyaline masses and nemaline rods 10.0 DMD TTN
36 reducing body myopathy 10.0 DMD TTN
37 autosomal recessive limb-girdle muscular dystrophy type 2h 9.9 CAPN3 DYSF MYOT
38 autosomal dominant limb-girdle muscular dystrophy type 1c 9.9 CAV3 DYSF MYOT
39 muscular dystrophy-dystroglycanopathy , type b, 5 9.9 CAV3 DMD
40 muscular dystrophy, limb-girdle, type 2g 9.9 CAPN3 DYSF MYOT
41 congenital fiber-type disproportion 9.9 DMD DYSF MYH7
42 myopathy, myofibrillar, 3 9.8 MYOT TTN
43 myopathy, myofibrillar, 2 9.8 DMD MYH7 MYOT
44 cardiomyopathy, familial hypertrophic, 1 9.8 CAV3 MYH7
45 autosomal recessive limb-girdle muscular dystrophy 9.7 ANO5 CAPN3 DMD DYSF
46 muscular dystrophy, limb-girdle, type 1a 9.7 CAPN3 CAV3 MYOT
47 muscular dystrophy, limb-girdle, type 2h 9.5 CAPN3 DYSF TTN
48 muscular dystrophy-dystroglycanopathy , type c, 5 9.5 CAPN3 DYSF TTN
49 autosomal recessive limb-girdle muscular dystrophy type 2b 9.5 ANO5 CAPN3 CAV3 DYSF
50 myopathy, congenital 9.5 DMD MYH7

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

MGI Mouse Phenotypes related to Distal Muscular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 CAPN3 CAV3 DMD GNE MYH7 TTN
2 muscle MP:0005369 9.23 ANO5 CAPN3 CAV3 DMD DYSF GNE

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 Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT02377921 Phase 3 aceneuramic acid extended-release (Ace-ER);Placebo
2 Study to Evaluate the Safety and Efficacy of Ace-ER Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Terminated 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-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy Completed NCT01830972 Phase 2 SA-ER 500 mg;SA-IR 500 mg
5 An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Active, not recruiting NCT02346461 Phase 1, Phase 2 ManNac.;ManNac
6 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 Terminated NCT02731690 Phase 2 Aceneuramic Acid Extended-Release Tablets
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) Completed 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 29

Anatomical Context for Distal Muscular Dystrophy

MalaCards organs/tissues related to Distal Muscular Dystrophy:

41
Skeletal Muscle, Myeloid

Publications for Distal Muscular Dystrophy

Articles related to Distal Muscular Dystrophy:

(show top 50) (show all 157)
# Title Authors Year
1
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. ( 29437287 )
2018
2
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy. ( 29073160 )
2017
3
Distal myopathy with ADSSL1 mutations in Korean patients. ( 28268051 )
2017
4
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. ( 28295036 )
2017
5
Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient. ( 28221306 )
2017
6
Cystinosis distal myopathy, novel clinical, pathological and genetic features. ( 28629674 )
2017
7
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. ( 26718575 )
2016
8
Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene. ( 27469267 )
2016
9
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report. ( 27005958 )
2016
10
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. ( 27519903 )
2016
11
Distal myopathies in Finnish patients. ( 29188941 )
2016
12
Impairment of respiratory function in late-onset distal myopathy due to MATR3 Mutation. ( 25677933 )
2015
13
Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations. ( 25695922 )
2015
14
ADSSL1 mutation relevant to autosomal recessive adolescent-onset distal myopathy. ( 26506222 )
2015
15
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. ( 26208961 )
2015
16
Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report. ( 26616227 )
2015
17
X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene. ( 25246303 )
2015
18
Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy. ( 26528920 )
2015
19
A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family. ( 25447691 )
2015
20
Laing distal myopathy pathologically resembling inclusion body myositis. ( 25574480 )
2014
21
Novel mutations widen the phenotypic spectrum of slow skeletal/I^-cardiac myosin (MYH7) distal myopathy. ( 24664454 )
2014
22
Phenotype of matrin-3-related distal myopathy in 16 German patients. ( 25154462 )
2014
23
Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles). ( 23127962 )
2013
24
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy). ( 24027297 )
2013
25
Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy. ( 24300783 )
2013
26
Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy. ( 23530687 )
2013
27
New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease. ( 24441330 )
2013
28
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. ( 23348830 )
2013
29
Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase I^ mutations. ( 22933815 )
2013
30
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing. ( 23443021 )
2013
31
Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study. ( 22980764 )
2012
32
Aquaporin-4 expression in distal myopathy with rimmed vacuoles. ( 22540328 )
2012
33
Miyoshi-like distal myopathy with mutations in anoctamin 5 gene. ( 22336395 )
2012
34
New phenotype and pathology features in MYH7-related distal myopathy. ( 22521714 )
2012
35
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. ( 23401021 )
2012
36
Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case. ( 23287327 )
2012
37
Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression. ( 22855677 )
2012
38
ZASPopathy with childhood-onset distal myopathy. ( 22619057 )
2012
39
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency. ( 22131542 )
2011
40
Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients. ( 22196754 )
2011
41
Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family. ( 21684747 )
2011
42
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. ( 21620354 )
2011
43
A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient. ( 21279644 )
2011
44
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. ( 21724397 )
2011
45
[GNE gene mutation analysis in 5 patients with distal myopathy with rimmed vacuoles]. ( 21868336 )
2011
46
Clinical utility gene card for: Laing distal myopathy. ( 21150886 )
2011
47
Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family. ( 20346669 )
2010
48
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. ( 20733148 )
2010
49
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. ( 20554658 )
2010
50
A new distal myopathy with mutation in anoctamin 5. ( 20692837 )
2010

Variations for Distal Muscular Dystrophy

ClinVar genetic disease variations for Distal Muscular Dystrophy:

6
(show top 50) (show all 150)
# Gene Variation Type Significance SNP ID Assembly Location
1 MATR3 NM_199189.2(MATR3): c.-43T> A single nucleotide variant Benign rs12153162 GRCh37 Chromosome 5, 138643062: 138643062
2 MATR3 NM_199189.2(MATR3): c.-43T> A single nucleotide variant Benign rs12153162 GRCh38 Chromosome 5, 139307373: 139307373
3 MATR3 NM_199189.2(MATR3): c.1602+6A> G single nucleotide variant Benign/Likely benign rs80036770 GRCh38 Chromosome 5, 139319507: 139319507
4 MATR3 NM_199189.2(MATR3): c.1602+6A> G single nucleotide variant Benign/Likely benign rs80036770 GRCh37 Chromosome 5, 138655196: 138655196
5 MATR3 NM_199189.2(MATR3): c.*496C> T single nucleotide variant Likely benign rs140707719 GRCh37 Chromosome 5, 138665580: 138665580
6 MATR3 NM_199189.2(MATR3): c.-247C> T single nucleotide variant Benign rs141402332 GRCh37 Chromosome 5, 138614749: 138614749
7 MATR3 NM_199189.2(MATR3): c.-247C> T single nucleotide variant Benign rs141402332 GRCh38 Chromosome 5, 139279060: 139279060
8 MATR3 NM_199189.2(MATR3): c.-124T> C single nucleotide variant Uncertain significance rs886059987 GRCh37 Chromosome 5, 138642981: 138642981
9 MATR3 NM_199189.2(MATR3): c.-124T> C single nucleotide variant Uncertain significance rs886059987 GRCh38 Chromosome 5, 139307292: 139307292
10 MATR3 NM_199189.2(MATR3): c.393C> A (p.Asp131Glu) single nucleotide variant Uncertain significance rs761842979 GRCh37 Chromosome 5, 138643497: 138643497
11 MATR3 NM_199189.2(MATR3): c.393C> A (p.Asp131Glu) single nucleotide variant Uncertain significance rs761842979 GRCh38 Chromosome 5, 139307808: 139307808
12 MATR3 NM_199189.2(MATR3): c.1954C> T (p.Leu652Phe) single nucleotide variant Uncertain significance rs886059991 GRCh37 Chromosome 5, 138658462: 138658462
13 MATR3 NM_199189.2(MATR3): c.1954C> T (p.Leu652Phe) single nucleotide variant Uncertain significance rs886059991 GRCh38 Chromosome 5, 139322773: 139322773
14 MATR3 NM_199189.2(MATR3): c.2283C> T (p.Asn761=) single nucleotide variant Benign/Likely benign rs189752689 GRCh37 Chromosome 5, 138661263: 138661263
15 MATR3 NM_199189.2(MATR3): c.2283C> T (p.Asn761=) single nucleotide variant Benign/Likely benign rs189752689 GRCh38 Chromosome 5, 139325574: 139325574
16 MATR3 NM_199189.2(MATR3): c.*1111T> C single nucleotide variant Uncertain significance rs772678059 GRCh38 Chromosome 5, 139330506: 139330506
17 MATR3 NM_199189.2(MATR3): c.2360A> G (p.Asn787Ser) single nucleotide variant Likely benign rs148402819 GRCh37 Chromosome 5, 138661340: 138661340
18 MATR3 NM_199189.2(MATR3): c.2360A> G (p.Asn787Ser) single nucleotide variant Likely benign rs148402819 GRCh38 Chromosome 5, 139325651: 139325651
19 MATR3 NM_199189.2(MATR3): c.2504A> G (p.Asn835Ser) single nucleotide variant Uncertain significance rs201165929 GRCh37 Chromosome 5, 138665044: 138665044
20 MATR3 NM_199189.2(MATR3): c.2504A> G (p.Asn835Ser) single nucleotide variant Uncertain significance rs201165929 GRCh38 Chromosome 5, 139329355: 139329355
21 MATR3 NM_199189.2(MATR3): c.2543A> G (p.Ter848=) single nucleotide variant Likely benign rs200664940 GRCh37 Chromosome 5, 138665083: 138665083
22 MATR3 NM_199189.2(MATR3): c.2543A> G (p.Ter848=) single nucleotide variant Likely benign rs200664940 GRCh38 Chromosome 5, 139329394: 139329394
23 MATR3 NM_199189.2(MATR3): c.*86_*89delTTAG deletion Likely benign rs368308621 GRCh37 Chromosome 5, 138665170: 138665173
24 MATR3 NM_199189.2(MATR3): c.*86_*89delTTAG deletion Likely benign rs368308621 GRCh38 Chromosome 5, 139329481: 139329484
25 MATR3 NM_199189.2(MATR3): c.*177_*178delAT deletion Uncertain significance rs886059994 GRCh38 Chromosome 5, 139329572: 139329573
26 MATR3 NM_199189.2(MATR3): c.*177_*178delAT deletion Uncertain significance rs886059994 GRCh37 Chromosome 5, 138665261: 138665262
27 MATR3 NM_199189.2(MATR3): c.*406A> G single nucleotide variant Likely benign rs185734839 GRCh38 Chromosome 5, 139329801: 139329801
28 MATR3 NM_199189.2(MATR3): c.*406A> G single nucleotide variant Likely benign rs185734839 GRCh37 Chromosome 5, 138665490: 138665490
29 MATR3 NM_199189.2(MATR3): c.*496C> T single nucleotide variant Likely benign rs140707719 GRCh38 Chromosome 5, 139329891: 139329891
30 MATR3 NM_199189.2(MATR3): c.*587A> G single nucleotide variant Likely benign rs535027907 GRCh37 Chromosome 5, 138665671: 138665671
31 MATR3 NM_199189.2(MATR3): c.*587A> G single nucleotide variant Likely benign rs535027907 GRCh38 Chromosome 5, 139329982: 139329982
32 MATR3 NM_199189.2(MATR3): c.*769G> A single nucleotide variant Likely benign rs561705958 GRCh38 Chromosome 5, 139330164: 139330164
33 MATR3 NM_199189.2(MATR3): c.*769G> A single nucleotide variant Likely benign rs561705958 GRCh37 Chromosome 5, 138665853: 138665853
34 MATR3 NM_199189.2(MATR3): c.*1111T> C single nucleotide variant Uncertain significance rs772678059 GRCh37 Chromosome 5, 138666195: 138666195
35 MATR3 NM_199189.2(MATR3): c.*1821T> G single nucleotide variant Uncertain significance rs886060000 GRCh37 Chromosome 5, 138666905: 138666905
36 MATR3 NM_199189.2(MATR3): c.*1821T> G single nucleotide variant Uncertain significance rs886060000 GRCh38 Chromosome 5, 139331216: 139331216
37 MATR3 NM_199189.2(MATR3): c.*1891T> G single nucleotide variant Uncertain significance rs886060001 GRCh37 Chromosome 5, 138666975: 138666975
38 MATR3 NM_199189.2(MATR3): c.*1891T> G single nucleotide variant Uncertain significance rs886060001 GRCh38 Chromosome 5, 139331286: 139331286
39 MATR3 NM_199189.2(MATR3): c.*2222G> T single nucleotide variant Uncertain significance rs886060005 GRCh37 Chromosome 5, 138667306: 138667306
40 MATR3 NM_199189.2(MATR3): c.*2222G> T single nucleotide variant Uncertain significance rs886060005 GRCh38 Chromosome 5, 139331617: 139331617
41 MATR3 NM_199189.2(MATR3): c.-610C> G single nucleotide variant Benign rs11242456 GRCh38 Chromosome 5, 139273920: 139273920
42 MATR3 NM_199189.2(MATR3): c.-610C> G single nucleotide variant Benign rs11242456 GRCh37 Chromosome 5, 138609609: 138609609
43 MATR3 NM_199189.2(MATR3): c.-103dupT duplication Benign rs59150359 GRCh37 Chromosome 5, 138643002: 138643002
44 MATR3 NM_199189.2(MATR3): c.-103dupT duplication Benign rs59150359 GRCh38 Chromosome 5, 139307313: 139307313
45 MATR3 NM_199189.2(MATR3): c.-56G> A single nucleotide variant Likely benign rs59033177 GRCh37 Chromosome 5, 138643049: 138643049
46 MATR3 NM_199189.2(MATR3): c.-56G> A single nucleotide variant Likely benign rs59033177 GRCh38 Chromosome 5, 139307360: 139307360
47 MATR3 NM_199189.2(MATR3): c.291A> G (p.Leu97=) single nucleotide variant Benign/Likely benign rs147239107 GRCh37 Chromosome 5, 138643395: 138643395
48 MATR3 NM_199189.2(MATR3): c.291A> G (p.Leu97=) single nucleotide variant Benign/Likely benign rs147239107 GRCh38 Chromosome 5, 139307706: 139307706
49 MATR3 NM_199189.2(MATR3): c.1347C> T (p.Ala449=) single nucleotide variant Benign/Likely benign rs141986556 GRCh37 Chromosome 5, 138654635: 138654635
50 MATR3 NM_199189.2(MATR3): c.1347C> T (p.Ala449=) single nucleotide variant Benign/Likely benign rs141986556 GRCh38 Chromosome 5, 139318946: 139318946

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:

37
# 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-containing 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
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
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