Details of Disease

General Information of Disease (ID: DISC11WH)

Disease Name Tubular aggregate myopathy
Synonyms TAM1; myopathy, tubular aggregate, 1; tubular aggregate myopathy; myopathy, tubular aggregate, type 1
Definition
Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported.
Disease Hierarchy
DISLSK9G: Congenital myopathy
DISC11WH: Tubular aggregate myopathy
Disease Identifiers
MONDO ID
MONDO_0008051
MESH ID
D020914
UMLS CUI
C0410207
MedGen ID
98050
Orphanet ID
2593
SNOMED CT ID
240087000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 7 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DNM2 TTVRA5G Strong Biomarker [1]
GAS6 TT69QD2 Strong Biomarker [2]
MTM1 TTY2TCU Strong Biomarker [1]
ORAI1 TTE76YK Strong Biomarker [3]
RYR1 TTU5CIX Strong Biomarker [1]
CCNE2 TTLDRGX Definitive Altered Expression [4]
ORAI1 TTE76YK Definitive Autosomal dominant [5]
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⏷ Show the Full List of 7 DTT(s)
This Disease Is Related to 13 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NDC80 OTS7D306 Limited Altered Expression [6]
CASQ1 OTAY8WOO Supportive Autosomal dominant [7]
BIN1 OTK8O0X8 Strong Biomarker [8]
GATA1 OTX1R7O1 Strong Genetic Variation [9]
LAMTOR5 OTER0U8L Strong Altered Expression [10]
SIRT4 OT5S0J23 Strong Biomarker [11]
ARHGDIA OTEXWJDO Definitive Altered Expression [12]
CLEC10A OTD8HQT6 Definitive Biomarker [13]
GFPT1 OTQBDO45 Definitive Genetic Variation [14]
NRIP1 OTIZOJQV Definitive Altered Expression [15]
ORAI1 OT2VE9UU Definitive Autosomal dominant [5]
OVGP1 OTL2W9M5 Definitive Biomarker [16]
STIM1 OT8CLQ1W Definitive Autosomal dominant [5]
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⏷ Show the Full List of 13 DOT(s)

References

1 Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.Neuromuscul Disord. 2007 Apr;17(4):338-45. doi: 10.1016/j.nmd.2007.01.016. Epub 2007 Mar 21.
2 AXL Receptor Tyrosine Kinase as a Therapeutic Target in Hematological Malignancies: Focus on Multiple Myeloma.Cancers (Basel). 2019 Nov 5;11(11):1727. doi: 10.3390/cancers11111727.
3 Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.Hum Mutat. 2020 Jan;41(1):17-37. doi: 10.1002/humu.23899. Epub 2019 Sep 15.
4 Luteolin sensitises drug-resistant human breast cancer cells to tamoxifen via the inhibition of cyclin E2 expression.Food Chem. 2013 Nov 15;141(2):1553-61. doi: 10.1016/j.foodchem.2013.04.077. Epub 2013 May 2.
5 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.
6 Hormonal regulation of proliferation and transforming growth factors gene expression in human endometrial adenocarcinoma xenografts.J Steroid Biochem Mol Biol. 1994 Jul;50(1-2):13-9. doi: 10.1016/0960-0760(94)90167-8.
7 Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. Hum Mutat. 2017 Dec;38(12):1761-1773. doi: 10.1002/humu.23338. Epub 2017 Sep 26.
8 Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet. 2007 Sep;39(9):1134-9. doi: 10.1038/ng2086. Epub 2007 Aug 5.
9 Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome.Cancer Cell. 2019 Aug 12;36(2):123-138.e10. doi: 10.1016/j.ccell.2019.06.007. Epub 2019 Jul 11.
10 Oncoprotein HBXIP enhances HOXB13 acetylation and co-activates HOXB13 to confer tamoxifen resistance in breast cancer.J Hematol Oncol. 2018 Feb 23;11(1):26. doi: 10.1186/s13045-018-0577-5.
11 SIRT4 silencing in tumor-associated macrophages promotes HCC development via PPAR signalling-mediated alternative activation of macrophages.J Exp Clin Cancer Res. 2019 Nov 19;38(1):469. doi: 10.1186/s13046-019-1456-9.
12 Androgen receptor promotes tamoxifen agonist activity by activation of EGFR in ER-positive breast cancer.Breast Cancer Res Treat. 2015 Nov;154(2):225-37. doi: 10.1007/s10549-015-3609-7. Epub 2015 Oct 20.
13 Immature O-glycans recognized by the macrophage glycoreceptor CLEC10A (MGL) are induced by 4-hydroxy-tamoxifen, oxidative stress and DNA-damage in breast cancer cells.Cell Commun Signal. 2019 Aug 27;17(1):107. doi: 10.1186/s12964-019-0420-9.
14 Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.J Neurol. 2017 Aug;264(8):1791-1803. doi: 10.1007/s00415-017-8569-x. Epub 2017 Jul 15.
15 Overexpression of RIP140 suppresses the malignant potential of hepatocellular carcinoma by inhibiting NFBmediated alternative polarization of macrophages.Oncol Rep. 2017 May;37(5):2971-2979. doi: 10.3892/or.2017.5551. Epub 2017 Apr 5.
16 Lineage tracing suggests that ovarian endosalpingiosis does not result from escape of oviductal epithelium.J Pathol. 2019 Oct;249(2):206-214. doi: 10.1002/path.5308. Epub 2019 Jul 8.