Details of Disease

General Information of Disease (ID: DIS59VEJ)

Disease Name Qualitative or quantitative defects of dysferlin
Synonyms dysferlinopathy
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISXXXEE: Qualitative or quantitative protein defects in neuromuscular diseases
DIS59VEJ: Qualitative or quantitative defects of dysferlin
Disease Identifiers
MONDO ID
MONDO_0016145
MESH ID
C537995
UMLS CUI
C2931687
MedGen ID
419874
Orphanet ID
207073

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DYSF TTA7MXQ Limited Biomarker [1]
CA3 TTXUK5D Strong Altered Expression [1]
EIF5A TTIVCNR Strong Biomarker [1]
DYSF TTA7MXQ Definitive Autosomal recessive [2]
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This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANKRD2 OT4UYZ71 Strong Altered Expression [1]
ANO5 OTOW8R6H Strong Genetic Variation [3]
CKM OTME0KO7 Strong Biomarker [1]
EIF5AL1 OTLA4ONW Strong Biomarker [1]
FKTN OTQ9GCXL Strong Biomarker [4]
TOR1AIP1 OTTG8MAK Strong Biomarker [5]
TRIM63 OTUSWA74 Strong Altered Expression [6]
DYSF OTNSKJU0 Definitive Autosomal recessive [2]
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⏷ Show the Full List of 8 DOT(s)

References

1 Proteomic analysis of the skeletal muscles from dysferlinopathy patients.J Clin Neurosci. 2020 Jan;71:186-190. doi: 10.1016/j.jocn.2019.08.068. Epub 2019 Aug 19.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 ANO5-muscular dystrophy: clinical, pathological and molecular findings.Eur J Neurol. 2013 Oct;20(10):1383-9. doi: 10.1111/ene.12191. Epub 2013 May 12.
4 Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?.Arq Neuropsiquiatr. 2014 Sep;72(9):721-34. doi: 10.1590/0004-282x20140110.
5 Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1, a novel muscular dystrophy gene.Neuromuscul Disord. 2017 Mar;27(3):269-277. doi: 10.1016/j.nmd.2016.10.011. Epub 2016 Nov 3.
6 Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy.Muscle Nerve. 2014 Sep;50(3):340-7. doi: 10.1002/mus.24167. Epub 2014 May 17.