Details of Disease | DrugMAP

General Information of Disease (ID: DISG74RP)

Disease Name	Lateral meningocele syndrome
Synonyms	Lms; LMNS; lateral meningocele syndrome; Lehman syndrome
Disease Hierarchy	DISD715V: Hereditary neurological disease DIS5J95E: Neural tube defect DISG74RP: Lateral meningocele syndrome
Disease Identifiers	MONDO ID MONDO_0007537 MESH ID C537878 UMLS CUI C1851710 OMIM ID 130720 MedGen ID 342070 Orphanet ID 2789

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
GAS6	TT69QD2	Limited	Altered Expression	[1]
HHAT	TT1VNCG	Limited	Biomarker	[2]
MYLK	TT18ETS	Limited	Biomarker	[3]
TYRO3	TTIEMFN	Limited	Altered Expression	[1]
NOTCH3	TTVX7IA	Strong	Autosomal dominant	[4]
NOTCH3	TTVX7IA	Strong	Genetic Variation	[5]
PSMB9	TTOUSTQ	Strong	Genetic Variation	[6]
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⏷ Show the Full List of 7 DTT(s)

This Disease Is Related to 17 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTG2	OTRDWUO0	Limited	Biomarker	[3]
CARD14	OTADQHOV	Limited	Biomarker	[7]
CASQ2	OT09MNQ8	Limited	Biomarker	[3]
CDSN	OTQW4HV6	Limited	Biomarker	[7]
CFL2	OTE2W0DH	Limited	Altered Expression	[8]
FZD6	OTBCPII8	Limited	Biomarker	[9]
OSTN	OTL4A57N	Limited	Altered Expression	[10]
PEG10	OTWD2278	Limited	Genetic Variation	[11]
PLAGL1	OTZAO900	Limited	Altered Expression	[12]
PSME1	OTDHLJWH	Limited	Genetic Variation	[13]
SLMAP	OTHW3DVC	Limited	Biomarker	[3]
SMTN	OT4R2TYK	Limited	Biomarker	[14]
CALD1	OTNJKJ6Q	moderate	Biomarker	[14]
MYOCD	OTSJNHTH	Strong	Biomarker	[15]
NOTCH3	OTMVVA7F	Strong	Autosomal dominant	[4]
PTDSS1	OTXLIBD7	Strong	Genetic Variation	[16]
NAA10	OTYB9R6I	Definitive	Genetic Variation	[17]
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⏷ Show the Full List of 17 DOT(s)

References

1	Expression and role of TYRO3 and AXL as potential therapeutical targets in leiomyosarcoma.Br J Cancer. 2017 Dec 5;117(12):1787-1797. doi: 10.1038/bjc.2017.354. Epub 2017 Oct 12.
2	Hepatocyte growth factor activator inhibitors (HAI-1 and HAI-2) are potential targets in uterine leiomyosarcoma.Int J Oncol. 2010 Sep;37(3):605-14. doi: 10.3892/ijo_00000709.
3	Expression of subtype-specific group 1 leiomyosarcoma markers in a wide variety of sarcomas by gene expression analysis and immunohistochemistry.Am J Surg Pathol. 2011 Apr;35(4):583-9. doi: 10.1097/PAS.0b013e318211abd6.
4	Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Am J Med Genet A. 2015 Feb;167A(2):271-81. doi: 10.1002/ajmg.a.36863. Epub 2014 Nov 13.
5	An antibody to Notch3 reverses the skeletal phenotype of lateral meningocele syndrome in male mice.J Cell Physiol. 2020 Jan;235(1):210-220. doi: 10.1002/jcp.28960. Epub 2019 Jun 12.
6	Molecular Pathology and Novel Clinical Therapy for Uterine Leiomyosarcoma.Anticancer Res. 2016 Oct;36(10):4997-5007. doi: 10.21873/anticanres.11068.
7	Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):4314-9. doi: 10.1073/pnas.1525719113. Epub 2016 Apr 4.
8	Discovery of molecular subtypes in leiomyosarcoma through integrative molecular profiling.Oncogene. 2010 Feb 11;29(6):845-54. doi: 10.1038/onc.2009.381. Epub 2009 Nov 9.
9	Uterine leiomyosarcoma and endometrial stromal sarcoma have unique miRNA signatures.Gynecol Oncol. 2016 Mar;140(3):512-7. doi: 10.1016/j.ygyno.2016.01.001. Epub 2016 Jan 6.
10	Gene expression signatures of primary and metastatic uterine leiomyosarcoma.Hum Pathol. 2014 Apr;45(4):691-700. doi: 10.1016/j.humpath.2013.11.003. Epub 2013 Nov 13.
11	Cytogenetic analysis of a leiomyosarcoma of the kidney.Cancer Genet Cytogenet. 1994 Feb;72(2):126-9. doi: 10.1016/0165-4608(94)90127-9.
12	Prognostic value of PLAGL1-specific CpG site methylation in soft-tissue sarcomas.PLoS One. 2013 Nov 15;8(11):e80741. doi: 10.1371/journal.pone.0080741. eCollection 2013.
13	High-grade sarcoma diagnosis and prognosis: Biomarker discovery by mass spectrometry imaging.Proteomics. 2016 Jun;16(11-12):1802-13. doi: 10.1002/pmic.201500514.
14	The Use of Smoothelin and Other Antibodies in the Diagnosis of Uterine and Soft Tissue Smooth Muscle Tumors.Appl Immunohistochem Mol Morphol. 2019 May/Jun;27(5):386-391. doi: 10.1097/PAI.0000000000000619.
15	Targeted exome sequencing profiles genetic alterations in leiomyosarcoma.Genes Chromosomes Cancer. 2016 Feb;55(2):124-30. doi: 10.1002/gcc.22318. Epub 2015 Nov 6.
16	Lenz-Majewski syndrome in a patient from Egypt.Am J Med Genet A. 2019 Oct;179(10):2039-2042. doi: 10.1002/ajmg.a.61327. Epub 2019 Aug 12.
17	A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet. 2014 Mar;51(3):185-96. doi: 10.1136/jmedgenet-2013-101660. Epub 2014 Jan 15.