DMAT
MCID: MYP035
MIFTS: 20

Myopathy, Distal, with Anterior Tibial Onset (DMAT) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Distal, with Anterior Tibial Onset

Aliases & Descriptions for Myopathy, Distal, with Anterior Tibial Onset:

Name: Myopathy, Distal, with Anterior Tibial Onset 54 24 13 69
Distal Myopathy with Anterior Tibial Onset 56 66 29
Dmat 24 66
Distal Anterior Compartment Myopathy 56

Characteristics:

Orphanet epidemiological data:

56
distal myopathy with anterior tibial onset
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

HPO:

32
myopathy, distal, with anterior tibial onset:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 606768
Orphanet 56 ORPHA178400
ICD10 via Orphanet 34 G71.0
MedGen 40 C1847532

Summaries for Myopathy, Distal, with Anterior Tibial Onset

UniProtKB/Swiss-Prot : 66 Distal myopathy with anterior tibial onset: Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive.

MalaCards based summary : Myopathy, Distal, with Anterior Tibial Onset, also known as distal myopathy with anterior tibial onset, is related to dysferlinopathy and myopathy, and has symptoms including elevated serum creatine phosphokinase, distal muscle weakness and distal amyotrophy. An important gene associated with Myopathy, Distal, with Anterior Tibial Onset is DYSF (Dysferlin).

Description from OMIM: 606768

Related Diseases for Myopathy, Distal, with Anterior Tibial Onset

Diseases related to Myopathy, Distal, with Anterior Tibial Onset via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 dysferlinopathy 11.1
2 myopathy 9.9
3 muscular dystrophy 9.9
4 breast cancer 9.9

Symptoms & Phenotypes for Myopathy, Distal, with Anterior Tibial Onset

Symptoms by clinical synopsis from OMIM:

606768

Clinical features from OMIM:

606768

Human phenotypes related to Myopathy, Distal, with Anterior Tibial Onset:

32
id Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 32 HP:0003236
2 distal muscle weakness 32 HP:0002460
3 distal amyotrophy 32 HP:0003693

Drugs & Therapeutics for Myopathy, Distal, with Anterior Tibial Onset

Search Clinical Trials , NIH Clinical Center for Myopathy, Distal, with Anterior Tibial Onset

Genetic Tests for Myopathy, Distal, with Anterior Tibial Onset

Genetic tests related to Myopathy, Distal, with Anterior Tibial Onset:

id Genetic test Affiliating Genes
1 Myopathy, Distal, with Anterior Tibial Onset 29 24 DYSF

Anatomical Context for Myopathy, Distal, with Anterior Tibial Onset

Publications for Myopathy, Distal, with Anterior Tibial Onset

Variations for Myopathy, Distal, with Anterior Tibial Onset

ClinVar genetic disease variations for Myopathy, Distal, with Anterior Tibial Onset:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DYSF NM_003494.3(DYSF): c.5594delG (p.Gly1865Alafs) deletion Pathogenic rs786205081 GRCh37 Chromosome 2, 71896803: 71896803
2 DYSF NM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter) single nucleotide variant Pathogenic rs121908959 GRCh37 Chromosome 2, 71901372: 71901372
3 DYSF NM_003494.3(DYSF): c.1956G> A (p.Trp652Ter) single nucleotide variant Pathogenic rs794727343 GRCh37 Chromosome 2, 71780962: 71780962
4 DYSF NM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs) deletion Pathogenic rs863224867 GRCh37 Chromosome 2, 71817414: 71817415
5 DYSF NM_003494.3(DYSF): c.331C> T (p.Gln111Ter) single nucleotide variant Pathogenic rs746315830 GRCh37 Chromosome 2, 71730438: 71730438
6 DYSF NM_001130987.1(DYSF): c.682dupC (p.His228Profs) duplication Pathogenic rs886042680 GRCh37 Chromosome 2, 71740974: 71740974
7 DYSF NM_001130987.1(DYSF): c.5004-1G> A single nucleotide variant Pathogenic rs886043170 GRCh37 Chromosome 2, 71891397: 71891397
8 DYSF NM_003494.3(DYSF): c.4685dupT (p.Met1562Ilefs) duplication Pathogenic rs886043465 GRCh37 Chromosome 2, 71886054: 71886054

Expression for Myopathy, Distal, with Anterior Tibial Onset

Search GEO for disease gene expression data for Myopathy, Distal, with Anterior Tibial Onset.

Pathways for Myopathy, Distal, with Anterior Tibial Onset

GO Terms for Myopathy, Distal, with Anterior Tibial Onset

Sources for Myopathy, Distal, with Anterior Tibial Onset

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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