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

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

Name: Myopathy, Distal, with Anterior Tibial Onset 52 24 12 68
Distal Myopathy with Anterior Tibial Onset 54 70 27
 
Dmat 24 70
Distal Anterior Compartment Myopathy 54

Characteristics:

Orphanet epidemiological data:

54
distal myopathy with anterior tibial onset:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

64
myopathy, distal, with anterior tibial onset:
Inheritance: autosomal recessive inheritance
Onset and clinical course: rapidly progressive

Classifications:



External Ids:

OMIM52 606768
Orphanet54 ORPHA178400
ICD10 via Orphanet31 G71.0
MedGen37 C1847532

Summaries for Myopathy, Distal, with Anterior Tibial Onset

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UniProtKB/Swiss-Prot:70 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 distal muscle weakness, elevated serum creatine phosphokinase and distal amyotrophy. An important gene associated with Myopathy, Distal, with Anterior Tibial Onset is DYSF (Dysferlin).

Description from OMIM:52 606768

Related Diseases for Myopathy, Distal, with Anterior Tibial Onset

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

idRelated DiseaseScoreTop Affiliating Genes
1dysferlinopathy11.1
2myopathy9.9
3muscular dystrophy9.9
4breast cancer9.9

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

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Symptoms by clinical synopsis from OMIM:

606768

Clinical features from OMIM:

606768

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

 64
id Description HPO Frequency HPO Source Accession
1 distal muscle weakness64 HP:0002460
2 elevated serum creatine phosphokinase64 HP:0003236
3 distal amyotrophy64 HP:0003693

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

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Interventional clinical trials:

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

Genetic Tests for Myopathy, Distal, with Anterior Tibial Onset

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

id Genetic test Affiliating Genes
1 Myopathy, Distal, with Anterior Tibial Onset27 24 DYSF

Anatomical Context for Myopathy, Distal, with Anterior Tibial Onset

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Publications for Myopathy, Distal, with Anterior Tibial Onset

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Variations for Myopathy, Distal, with Anterior Tibial Onset

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1DYSFNM_ 003494.3(DYSF): c.1956G> A (p.Trp652Ter)SNVPathogenicrs794727343GRCh37Chr 2, 71780962: 71780962
2DYSFNM_ 003494.3(DYSF): c.3516_ 3517delTT (p.Ser1173Terfs)deletionPathogenicrs863224867GRCh37Chr 2, 71817414: 71817415
3DYSFNM_ 003494.3(DYSF): c.331C> T (p.Gln111Ter)SNVPathogenicrs746315830GRCh37Chr 2, 71730438: 71730438
4DYSFNM_ 001130987.1(DYSF): c.682dupC (p.His228Profs)duplicationPathogenicrs886042680GRCh37Chr 2, 71740974: 71740974
5DYSFNM_ 001130987.1(DYSF): c.5004-1G> ASNVPathogenicrs886043170GRCh37Chr 2, 71891397: 71891397
6DYSFNM_ 003494.3(DYSF): c.4685dupT (p.Met1562Ilefs)duplicationPathogenicrs886043465GRCh37Chr 2, 71886054: 71886054
7DYSFNM_ 003494.3(DYSF): c.5594delG (p.Gly1865Alafs)deletionPathogenicrs786205081GRCh37Chr 2, 71896803: 71896803
8DYSFNM_ 001130978.1(DYSF): c.5776C> T (p.Arg1926Ter)SNVPathogenicrs121908959GRCh37Chr 2, 71901372: 71901372

Expression for genes affiliated with Myopathy, Distal, with Anterior Tibial Onset

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

Pathways for genes affiliated with Myopathy, Distal, with Anterior Tibial Onset

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GO Terms for genes affiliated with Myopathy, Distal, with Anterior Tibial Onset

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Sources for Myopathy, Distal, with Anterior Tibial Onset

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet