MCID: MYP035
MIFTS: 21

Myopathy, Distal, with Anterior Tibial Onset

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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

MalaCards integrated aliases for Myopathy, Distal, with Anterior Tibial Onset:

Name: Myopathy, Distal, with Anterior Tibial Onset 53 28 13 69
Distal Myopathy with Anterior Tibial Onset 55 71
Dmat 53 71
Distal Anterior Compartment Myopathy 55

Characteristics:

Orphanet epidemiological data:

55
distal myopathy with anterior tibial onset
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset age 14-28 years
rapidly progressive


HPO:

31
myopathy, distal, with anterior tibial onset:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 606768
Orphanet 55 ORPHA178400
UMLS via Orphanet 70 C1847532
ICD10 via Orphanet 33 G71.0
MedGen 39 C1847532
SNOMED-CT via HPO 65 258211005 249942005
UMLS 69 C1847532

Summaries for Myopathy, Distal, with Anterior Tibial Onset

UniProtKB/Swiss-Prot : 71 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 muscular dystrophy, 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:

# Related Disease Score Top Affiliating Genes
1 dysferlinopathy 11.2
2 muscular dystrophy 9.9
3 myopathy 9.9
4 adrenocortical carcinoma, hereditary 9.9
5 adrenal cortical adenocarcinoma 9.9

Graphical network of the top 20 diseases related to Myopathy, Distal, with Anterior Tibial Onset:



Diseases related to Myopathy, Distal, with Anterior Tibial Onset

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

Symptoms via clinical synopsis from OMIM:

53
MuscleSoftTissue:
biopsy shows myopathy without vacuoles
anterior tibial muscles first involved
involves upper and lower proximal muscles
cranial muscles spared

LaboratoryAbnormalities:
serum creatine kinase 20-70 times normal


Clinical features from OMIM:

606768

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

31
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 31 HP:0003236
2 distal muscle weakness 31 HP:0002460
3 distal amyotrophy 31 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:

# Genetic test Affiliating Genes
1 Myopathy, Distal, with Anterior Tibial Onset 28 DYSF

Anatomical Context for Myopathy, Distal, with Anterior Tibial Onset

Publications for Myopathy, Distal, with Anterior Tibial Onset

Articles related to Myopathy, Distal, with Anterior Tibial Onset:

# Title Authors Year
1
Anti-neoplastic effect of protein kinase CK2 inhibitor, 2-dimethylamino-4,5,6,7-tetrabromobenzimidazole (DMAT), on growth and hormonal activity of human adrenocortical carcinoma cell line (H295R) in vitro. ( 20383646 )
2010
2
DMAT, an inhibitor of protein kinase CK2 induces reactive oxygen species and DNA double strand breaks. ( 19424641 )
2009
3
Selectivity analysis of protein kinase CK2 inhibitors DMAT, TBB and resorufin in cisplatin-induced stress responses. ( 19787270 )
2009
4
Induction of cell death in antiestrogen resistant human breast cancer cells by the protein kinase CK2 inhibitor DMAT. ( 17629615 )
2007
5
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. ( 11198284 )
2001

Variations for Myopathy, Distal, with Anterior Tibial Onset

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DYSF NM_003494.3(DYSF): c.1956G> A (p.Trp652Ter) single nucleotide variant Pathogenic rs794727343 GRCh37 Chromosome 2, 71780962: 71780962
2 DYSF NM_003494.3(DYSF): c.5594delG (p.Gly1865Alafs) deletion Pathogenic rs786205081 GRCh37 Chromosome 2, 71896803: 71896803
3 DYSF NM_003494.3(DYSF): c.5713C> T (p.Arg1905Ter) single nucleotide variant Pathogenic rs121908959 GRCh37 Chromosome 2, 71901372: 71901372
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

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42 MESH via Orphanet
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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