MCID: MYP035
MIFTS: 17

Myopathy, Distal, with Anterior Tibial Onset malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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

About this section

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

Name: Myopathy, Distal, with Anterior Tibial Onset 49 11 65
Distal Myopathy with Anterior Tibial Onset 51 67 24
 
Distal Anterior Compartment Myopathy 51
Dmat 67

Characteristics:

HPO:

61
myopathy, distal, with anterior tibial onset:
Onset and clinical course: rapidly progressive
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 606768
Orphanet51 178400
ICD10 via Orphanet28 G71.0
MedGen34 C1847532
UMLS65 C1847532

Summaries for Myopathy, Distal, with Anterior Tibial Onset

About this section
UniProtKB/Swiss-Prot:67 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 breast cancer, and has symptoms including distal amyotrophy, elevated serum creatine phosphokinase and distal muscle weakness. An important gene associated with Myopathy, Distal, with Anterior Tibial Onset is DYSF (Dysferlin). Affiliated tissues include temporal lobe.

Description from OMIM:49 606768

Related Diseases for Myopathy, Distal, with Anterior Tibial Onset

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1dysferlinopathy10.2
2breast cancer10.0
3myopathy10.0
4muscular dystrophy10.0

Symptoms for Myopathy, Distal, with Anterior Tibial Onset

About this section

Symptoms by clinical synopsis from OMIM:

606768

Clinical features from OMIM:

606768

HPO human phenotypes related to Myopathy, Distal, with Anterior Tibial Onset:

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

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

About this section

Interventional clinical trials:

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

Genetic Tests for Myopathy, Distal, with Anterior Tibial Onset

About this section

Anatomical Context for Myopathy, Distal, with Anterior Tibial Onset

About this section

MalaCards organs/tissues related to Myopathy, Distal, with Anterior Tibial Onset:

33
Temporal lobe

Animal Models for Myopathy, Distal, with Anterior Tibial Onset or affiliated genes

About this section

Publications for Myopathy, Distal, with Anterior Tibial Onset

About this section

Variations for Myopathy, Distal, with Anterior Tibial Onset

About this section

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)single nucleotide variantPathogenicrs794727343GRCh37Chr 2, 71780962: 71780962
2DYSFNM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs)deletionLikely pathogenic, Pathogenicrs863224867GRCh37Chr 2, 71817414: 71817415
3DYSFNM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs)deletionLikely pathogenic, Pathogenicrs863224867GRCh37Chr 2, 71817414: 71817415
4DYSFNM_003494.3(DYSF): c.5594delG (p.Gly1865Alafs)deletionPathogenicrs786205081GRCh37Chr 2, 71896803: 71896803
5DYSFNM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter)single nucleotide variantPathogenicrs121908959GRCh37Chr 2, 71901372: 71901372

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

About this section
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

About this section

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

About this section

Sources for Myopathy, Distal, with Anterior Tibial Onset

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet