MCID: ATS432
MIFTS: 24

Autosomal Dominant Distal Myopathy

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Distal Myopathy

MalaCards integrated aliases for Autosomal Dominant Distal Myopathy:

Name: Autosomal Dominant Distal Myopathy 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G71.0
Orphanet 59 ORPHA206650

Summaries for Autosomal Dominant Distal Myopathy

MalaCards based summary : Autosomal Dominant Distal Myopathy is related to myopathy, myofibrillar, 1 and miyoshi muscular dystrophy. An important gene associated with Autosomal Dominant Distal Myopathy is DES (Desmin), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are Decreased viability after ionizing radiation and muscle

Related Diseases for Autosomal Dominant Distal Myopathy

Diseases in the Myopathy, Distal, Infantile-Onset family:

Myopathy, Distal, 1 Myopathy, Distal, 3
Myopathy, Distal, 4 Myopathy, Distal, 5
Autosomal Recessive Distal Myopathy Autosomal Dominant Distal Myopathy
Adult-Onset Distal Myopathy Due to Vcp Mutation

Diseases related to Autosomal Dominant Distal Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 1 29.9 MYOT DES
2 miyoshi muscular dystrophy 29.8 MYOT MYH7 DMD
3 oculopharyngeal muscular dystrophy 29.7 PABPN1 MYH7
4 dilated cardiomyopathy 29.5 MYH7 DMD DES
5 myopathy 29.3 MYOT MYH7 MATR3 DES
6 myofibrillar myopathy 29.2 MYOT DMD DES
7 muscular dystrophy 28.7 PABPN1 MYOT DMD DES
8 myopathy, myofibrillar, 9, with early respiratory failure 11.7
9 myopathy, distal, 1 11.6
10 distal myopathy with vocal cord weakness 11.6
11 tibial muscular dystrophy 11.2
12 extracardiac rhabdomyoma 10.3 DMD DES
13 cytoplasmic body myopathy 10.3 DMD DES
14 cardioneuromyopathy with hyaline masses and nemaline rods 10.2 DMD DES
15 microcolon 10.2 DMD DES
16 amyotrophic lateral sclerosis 21 10.2
17 reducing body myopathy 10.2 DMD DES
18 amyotrophic lateral sclerosis 1 10.1
19 muscular atrophy 10.1
20 myopathy, distal, infantile-onset 10.0
21 tibial muscular dystrophy, tardive 10.0
22 nonaka myopathy 10.0
23 myopathy, myofibrillar, 3 10.0
24 scapuloperoneal myopathy 10.0
25 respiratory failure 10.0
26 spinal muscular atrophy 10.0
27 peripheral nervous system disease 10.0
28 neuropathy 10.0
29 gne-related myopathy 10.0
30 dysphagia 10.0
31 myopathy of extraocular muscle 9.9 PABPN1 MYH7
32 intrinsic cardiomyopathy 9.8 MYH7 DMD
33 muscular dystrophy, limb-girdle, autosomal dominant 1 9.8 MYOT DES
34 restrictive cardiomyopathy 9.8 MYH7 DES
35 rigid spine muscular dystrophy 1 9.8 MYH7 DMD
36 central core disease of muscle 9.8 MYOT DES
37 muscular dystrophy, limb-girdle, autosomal recessive 7 9.8 MYOT DMD
38 congenital fiber-type disproportion 9.7 MYH7 DMD
39 familial isolated dilated cardiomyopathy 9.7 MYH7 DMD DES
40 cardiomyopathy, dilated, 1e 9.7 MYH7 DES
41 left ventricular noncompaction 9.7 MYH7 DMD DES
42 arrhythmogenic right ventricular cardiomyopathy 9.6 MYH7 DMD DES
43 myopathy, congenital 9.4 MYH7 DMD
44 myopathy, spheroid body 9.4 MYOT MYH7 DES
45 muscle tissue disease 9.4 PABPN1 MYOT DMD
46 myopathy, myofibrillar, 2 9.3 MYOT MYH7 DMD
47 neuromuscular disease 9.1 PABPN1 MYOT DMD DES
48 atrial standstill 1 9.0 MYOT MYH7 DMD DES
49 muscular disease 8.4 PABPN1 MYOT MYH7 MATR3 DMD

Graphical network of the top 20 diseases related to Autosomal Dominant Distal Myopathy:



Diseases related to Autosomal Dominant Distal Myopathy

Symptoms & Phenotypes for Autosomal Dominant Distal Myopathy

GenomeRNAi Phenotypes related to Autosomal Dominant Distal Myopathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after ionizing radiation GR00232-A-2 8.62 MYOT PABPN1

MGI Mouse Phenotypes related to Autosomal Dominant Distal Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 DES DMD MYH7 PABPN1

Drugs & Therapeutics for Autosomal Dominant Distal Myopathy

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Distal Myopathy

Genetic Tests for Autosomal Dominant Distal Myopathy

Anatomical Context for Autosomal Dominant Distal Myopathy

MalaCards organs/tissues related to Autosomal Dominant Distal Myopathy:

41
Skeletal Muscle

Publications for Autosomal Dominant Distal Myopathy

Articles related to Autosomal Dominant Distal Myopathy:

(show all 35)
# Title Authors PMID Year
1
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations. 38
30900782 2019
2
A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging. 38
31218166 2019
3
Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1. 38
30732915 2019
4
Autosomal dominant distal myopathy due to a novel ACTA1 mutation. 38
28606400 2017
5
Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype. 38
27863507 2016
6
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. 38
27005958 2016
7
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. 38
26208961 2015
8
Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis. 38
25523636 2015
9
Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy. 38
24618559 2014
10
ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle. 38
24647531 2014
11
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. 38
23401021 2013
12
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. 38
23413262 2013
13
Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family. 38
21684747 2011
14
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. 38
20554658 2010
15
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 38
19911250 2010
16
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. 38
19344878 2009
17
Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 38
18930476 2009
18
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. 38
17698502 2008
19
Zaspopathy in a large classic late-onset distal myopathy family. 38
17337483 2007
20
Myotilinopathy in a family with late onset myopathy. 38
16793270 2006
21
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. 38
15728284 2005
22
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). 38
15322983 2004
23
The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis. 38
12975303 2003
24
A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci. 38
11310621 2001
25
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. 38
11166161 2001
26
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. 38
10545598 1999
27
Autosomal dominant distal myopathy not linked to the known distal myopathy loci. 38
10220859 1999
28
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. 38
9837826 1998
29
Assignment of the tibial muscular dystrophy locus to chromosome 2q31. 38
9497249 1998
30
[Autosomal dominant distal myopathy with rimmed vacuoles and cytoplasmic inclusions: report of a family]. 38
9146065 1997
31
Infantile autosomal dominant distal myopathy. 38
7484058 1995
32
Autosomal dominant distal myopathy: linkage to chromosome 14. 38
7847377 1995
33
Late onset foot-drop muscular dystrophy with rimmed vacuoles. 38
7807161 1994
34
Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. 38
8114783 1994
35
Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander). 38
1656692 1991

Variations for Autosomal Dominant Distal Myopathy

Expression for Autosomal Dominant Distal Myopathy

Search GEO for disease gene expression data for Autosomal Dominant Distal Myopathy.

Pathways for Autosomal Dominant Distal Myopathy

Pathways related to Autosomal Dominant Distal Myopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.07 MYH7 DMD DES
2 11.01 DMD DES
3
Show member pathways
10.61 KLHL9 DES

GO Terms for Autosomal Dominant Distal Myopathy

Cellular components related to Autosomal Dominant Distal Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myofibril GO:0030016 9.16 MYH7 DMD
2 sarcolemma GO:0042383 9.13 MYOT DMD DES
3 Z disc GO:0030018 8.92 MYOT MYH7 DMD DES

Biological processes related to Autosomal Dominant Distal Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.26 MYH7 DMD
2 regulation of heart rate GO:0002027 9.16 MYH7 DMD
3 muscle filament sliding GO:0030049 9.13 MYH7 DMD DES
4 muscle contraction GO:0006936 8.92 PABPN1 MYOT MYH7 DES

Molecular functions related to Autosomal Dominant Distal Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.16 DMD DES
2 actin binding GO:0003779 9.13 MYOT MYH7 DMD
3 structural constituent of muscle GO:0008307 8.62 MYOT DMD

Sources for Autosomal Dominant Distal Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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