Details of Disease | DrugMAP

General Information of Disease (ID: DIS04ZWK)

Disease Name	Distal myopathy with anterior tibial onset
Synonyms	myopathy, distal, with anterior tibial onset; DMAT; distal anterior compartment myopathy
Disease Hierarchy	DIS59VEJ: Qualitative or quantitative defects of dysferlin DIS7F5R0: Distal myopathy DIS04ZWK: Distal myopathy with anterior tibial onset
Disease Identifiers	MONDO ID MONDO_0011721 UMLS CUI C1847532 OMIM ID 606768 MedGen ID 335706 Orphanet ID 178400 SNOMED CT ID 782675008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DYSF	TTA7MXQ	Limited	Biomarker	[1]
DYSF	TTA7MXQ	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DYSF	OTNSKJU0	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.J Neuromuscul Dis. 2015;2(1):87-92. doi: 10.3233/JND-140038.
2	Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol. 2007 Aug;64(8):1176-82. doi: 10.1001/archneur.64.8.1176.