Details of Disease

Disease Name

Congenital myopathy

myopathy congenital; Batten Turner congenital myopathy; congenital myopathy

Disease Hierarchy

DISU0K94: Hereditary skeletal muscle disorder

DISOWG27: Myopathy

DISLSK9G: Congenital myopathy

Disease Identifiers

MONDO ID

MONDO_0019952

UMLS CUI

C0270960

MedGen ID

124381

Orphanet ID

97245

General Information of Disease (ID: DISLSK9G)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA1S	TT94HRF	Strong	Autosomal dominant	[1]
CACNA1S	TT94HRF	Strong	Genetic Variation	[2]
CNTN1	TTPR8FK	Strong	Genetic Variation	[3]
DYSF	TTA7MXQ	Strong	Biomarker	[4]
MYH2	TTBIL13	Strong	Genetic Variation	[5]
SCN4A	TT84DRB	Strong	Genetic Variation	[6]
TNNC2	TTYUMF5	Strong	Biomarker	[7]
DNM2	TTVRA5G	Definitive	Genetic Variation	[8]
MTM1	TTY2TCU	Definitive	Genetic Variation	[9]
MYH7	TTNIMDP	Definitive	Genetic Variation	[10]
SMN1	TT8QL6X	Definitive	Biomarker	[11]
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⏷ Show the Full List of 11 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN4A	DT7SZIQ	Strong	Autosomal recessive	[1]
SLC7A10	DTVL2JY	Strong	Genetic Variation	[12]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHKB	DEHWR6V	Strong	Biomarker	[13]
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This Disease Is Related to 43 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTA1	OTOVGLPG	Limited	Genetic Variation	[14]
LMNA	OT3SG7ZR	Limited	Biomarker	[15]
MYL1	OTDUYR4U	Limited	Autosomal recessive	[16]
NEB	OT7P9IR3	Limited	Genetic Variation	[17]
TPM3	OT5RU5G6	Limited	Genetic Variation	[18]
RYR3	OT4EHIP4	Disputed	Autosomal recessive	[16]
KY	OTK1L8VX	moderate	Biomarker	[19]
B4GAT1	OT5NH9TD	Strong	Biomarker	[20]
CACNA1S	OT96MCM2	Strong	Autosomal dominant	[1]
CCDC78	OTWZVF89	Strong	Genetic Variation	[21]
CFL2	OTE2W0DH	Strong	Genetic Variation	[22]
COL12A1	OTHLTV53	Strong	Genetic Variation	[23]
DTNA	OTVBIRH2	Strong	Genetic Variation	[3]
DYNC1H1	OTD1KRKO	Strong	Genetic Variation	[24]
EIF3K	OTGTKVGO	Strong	Biomarker	[25]
FKRP	OTMUZ7GH	Strong	Biomarker	[26]
FKTN	OTQ9GCXL	Strong	Biomarker	[27]
GBE1	OTK2N05B	Strong	Biomarker	[28]
IGHMBP2	OTAZFPF5	Strong	Genetic Variation	[29]
ITGA7	OTTBTAYW	Strong	Biomarker	[30]
KLHL31	OTXZVWDL	Strong	Biomarker	[31]
KLHL40	OTMPMD6W	Strong	Genetic Variation	[32]
LARGE1	OTUH7H9F	Strong	Biomarker	[33]
LHX4	OTVX3J6S	Strong	Genetic Variation	[34]
MEGF10	OTILSPJ6	Strong	Genetic Variation	[35]
MYH7B	OTCB2IJB	Strong	Genetic Variation	[36]
MYMK	OTJZE032	Strong	Altered Expression	[37]
MYOG	OTPLJKFA	Strong	Genetic Variation	[38]
POMGNT1	OTBNOUZC	Strong	Biomarker	[26]
RPL3	OTX6VXLB	Strong	Genetic Variation	[12]
SCN4A	OT0MYDHC	Strong	Autosomal recessive	[1]
SELENON	OTSGKO5M	Strong	Biomarker	[39]
SPEG	OTQXWJR4	Strong	Genetic Variation	[40]
SPTBN4	OTAJAVP9	Strong	Genetic Variation	[41]
TPM2	OTA1L0P8	Strong	Genetic Variation	[42]
TRDN	OTXVE9SF	Strong	Biomarker	[43]
TRIP4	OTA8OASA	Strong	Genetic Variation	[12]
TTN	OT0LZ058	Strong	Genetic Variation	[44]
DES	OTI09KBW	Definitive	Biomarker	[4]
HACD1	OTEC7EP7	Definitive	Autosomal recessive	[16]
LMOD3	OTSJ3QGX	Definitive	Biomarker	[45]
SMN2	OT54RLO1	Definitive	Biomarker	[11]
STAC3	OTPY3BGK	Definitive	Biomarker	[46]
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⏷ Show the Full List of 43 DOT(s)

References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.Eur J Neurol. 2018 Feb;25(2):417-419. doi: 10.1111/ene.13528. Epub 2017 Dec 26.
3	Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. Am J Hum Genet. 2008 Dec;83(6):714-24. doi: 10.1016/j.ajhg.2008.10.022. Epub 2008 Nov 20.
4	Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis.Neuromuscul Disord. 2007 Apr;17(4):276-84. doi: 10.1016/j.nmd.2006.12.010. Epub 2007 Feb 15.
5	Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy.Neuromuscul Disord. 2017 Oct;27(10):947-950. doi: 10.1016/j.nmd.2017.06.015. Epub 2017 Jun 27.
6	Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22.
7	Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. Am J Hum Genet. 2016 Mar 3;98(3):473-489. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25.
8	Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes.Mol Ther Nucleic Acids. 2019 Jun 7;16:246-256. doi: 10.1016/j.omtn.2019.02.019. Epub 2019 Feb 27.
9	X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10.Neuromuscul Disord. 2012 May;22(5):384-8. doi: 10.1016/j.nmd.2011.11.004. Epub 2011 Dec 9.
10	Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.J Neuromuscul Dis. 2016 May 27;3(2):209-225. doi: 10.3233/JND-160151.
11	Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis.Yonsei Med J. 2017 Sep;58(5):1051-1054. doi: 10.3349/ymj.2017.58.5.1051.
12	ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.Ann Neurol. 2020 Feb;87(2):217-232. doi: 10.1002/ana.25660. Epub 2019 Dec 27.
13	A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis.J Biol Chem. 2006 Feb 24;281(8):4938-48. doi: 10.1074/jbc.M512578200. Epub 2005 Dec 21.
14	Prevalence and phenotypes of congenital myopathy due to -actin 1 gene mutations.Muscle Nerve. 2016 Mar;53(3):388-93. doi: 10.1002/mus.24765. Epub 2015 Aug 13.
15	DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.Hum Mol Genet. 2012 Mar 1;21(5):1037-48. doi: 10.1093/hmg/ddr534. Epub 2011 Nov 16.
16	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.
17	NEB-related core-rod myopathy with distinct clinical and pathological features.Muscle Nerve. 2016 Mar;53(3):479-84. doi: 10.1002/mus.24966. Epub 2016 Jan 18.
18	Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1.
19	Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. Acta Neuropathol. 2016 Sep;132(3):475-8. doi: 10.1007/s00401-016-1602-9. Epub 2016 Aug 2.
20	Dystroglycan organizes axon guidance cue localization and axonal pathfinding.Neuron. 2012 Dec 6;76(5):931-44. doi: 10.1016/j.neuron.2012.10.009.
21	Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet. 2012 Aug 10;91(2):365-71. doi: 10.1016/j.ajhg.2012.06.012. Epub 2012 Jul 19.
22	Expanding the histopathological spectrum of CFL2-related myopathies.Clin Genet. 2018 Jun;93(6):1234-1239. doi: 10.1111/cge.13240. Epub 2018 Mar 25.
23	Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.Muscle Nerve. 2017 Feb;55(2):277-281. doi: 10.1002/mus.25232. Epub 2016 Nov 30.
24	Expanding the phenotypic spectrum associated with mutations of DYNC1H1. Neuromuscul Disord. 2017 Jul;27(7):607-615. doi: 10.1016/j.nmd.2017.04.011. Epub 2017 May 5.
25	Drosophila indirect flight muscle specific Act88F actin mutants as a model system for studying congenital myopathies of the human ACTA1 skeletal muscle actin gene.Neuromuscul Disord. 2010 Jun;20(6):363-74. doi: 10.1016/j.nmd.2010.03.008. Epub 2010 May 7.
26	Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.Brain Pathol. 2016 Jul;26(4):465-78. doi: 10.1111/bpa.12306. Epub 2015 Oct 12.
27	Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.Hum Mol Genet. 2009 Feb 15;18(4):621-31. doi: 10.1093/hmg/ddn387. Epub 2008 Nov 18.
28	Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology. 2004 Sep 28;63(6):1053-8. doi: 10.1212/01.wnl.0000138429.11433.0d.
29	A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus.Neuromuscul Disord. 2007 Feb;17(2):174-9. doi: 10.1016/j.nmd.2006.11.002. Epub 2007 Jan 22.
30	61 and 71 integrins are required in Schwann cells to sort axons.J Neurosci. 2013 Nov 13;33(46):17995-8007. doi: 10.1523/JNEUROSCI.3179-13.2013.
31	Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice.J Clin Invest. 2017 Oct 2;127(10):3730-3740. doi: 10.1172/JCI93445. Epub 2017 Sep 5.
32	Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese.J Neuropathol Exp Neurol. 2019 Sep 1;78(9):854-864. doi: 10.1093/jnen/nlz056.
33	Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases.Mol Cell Neurosci. 2005 Oct;30(2):160-72. doi: 10.1016/j.mcn.2005.07.009.
34	LHX4 Gene Alterations: Patient Report and Review of the Literature.Pediatr Endocrinol Rev. 2016 Jun;13(4):749-55.
35	Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012 May;13(2):115-24. doi: 10.1007/s10048-012-0315-z. Epub 2012 Feb 28.
36	Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. Orphanet J Rare Dis. 2013 Jun 21;8:91. doi: 10.1186/1750-1172-8-91.
37	A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077.
38	Human bHLH transcription factor gene myogenin (MYOG): genomic sequence and negative mutation analysis in patients with severe congenital myopathies.Genomics. 1999 May 1;57(3):419-23. doi: 10.1006/geno.1998.5719.
39	SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance.Redox Biol. 2019 Jun;24:101176. doi: 10.1016/j.redox.2019.101176. Epub 2019 Mar 23.
40	Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.Muscle Nerve. 2019 Mar;59(3):357-362. doi: 10.1002/mus.26378. Epub 2018 Nov 28.
41	A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.Hum Genet. 2017 Jul;136(7):903-910. doi: 10.1007/s00439-017-1814-7. Epub 2017 May 24.
42	A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.J Appl Genet. 2017 May;58(2):199-203. doi: 10.1007/s13353-016-0368-z. Epub 2016 Oct 10.
43	Congenital myopathy associated with the triadin knockout syndrome.Neurology. 2017 Mar 21;88(12):1153-1156. doi: 10.1212/WNL.0000000000003745. Epub 2017 Feb 15.
44	Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.BMC Med Genet. 2019 Oct 29;20(1):166. doi: 10.1186/s12881-019-0895-7.
45	Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.Am J Med Genet A. 2017 Oct;173(10):2789-2794. doi: 10.1002/ajmg.a.38383. Epub 2017 Aug 16.
46	STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11.