MCID: MYP035
MIFTS: 19

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 51 12 67
Distal Myopathy with Anterior Tibial Onset 53 69 26
 
Distal Anterior Compartment Myopathy 53
Dmat 69

Characteristics:

Orphanet epidemiological data:

53
distal myopathy with anterior tibial onset:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

63
myopathy, distal, with anterior tibial onset:
Inheritance: autosomal recessive inheritance
Onset and clinical course: rapidly progressive

Classifications:



External Ids:

OMIM51 606768
Orphanet53 ORPHA178400
ICD10 via Orphanet30 G71.0
MedGen36 C1847532

Summaries for Myopathy, Distal, with Anterior Tibial Onset

About this section
UniProtKB/Swiss-Prot:69 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 myopathy and muscular dystrophy, 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:51 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
1myopathy9.9
2muscular dystrophy9.9
3breast cancer9.9

Symptoms for Myopathy, Distal, with Anterior Tibial Onset

About this section

Symptoms by clinical synopsis from OMIM:

606768

Clinical features from OMIM:

606768

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

 63
id Description HPO Frequency HPO Source Accession
1 distal muscle weakness63 HP:0002460
2 elevated serum creatine phosphokinase63 HP:0003236
3 distal amyotrophy63 HP:0003693

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

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

id Genetic test Affiliating Genes
1 Myopathy, Distal, with Anterior Tibial Onset26

Anatomical Context for Myopathy, Distal, with Anterior Tibial Onset

About this section

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)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

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet