Details of Disease

General Information of Disease (ID: DISVEUWZ)

• Disease Name: Marfan syndrome
• Synonyms: MFS; Marfan syndrome type 1; Marfan syndrome, type 1; MFS1; Marfan syndrome; Marfan's syndrome
• Definition: A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISME1TG: Marfan and Marfan-related disorder
  DIS5PU87: Skeletal system disorder
  DIS3HIWD: Autosomal dominant disease
  DISVEUWZ: Marfan syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007947
  MESH ID: D008382
  UMLS CUI: C0024796
  OMIM ID: 154700
  MedGen ID: 44287
  Orphanet ID: 284963
  SNOMED CT ID: 19346006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 15 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MYBPC3	TT9WOBN	Limited	Genetic Variation	[1]
NOS2	TTF10I9	moderate	Altered Expression	[2]
ADAMTS1	TTS2TEI	Strong	Altered Expression	[2]
CAT	TTPS279	Strong	Biomarker	[3]
CBS	TTVZJ7G	Strong	Biomarker	[4]
CLDN6	TTKSV48	Strong	Altered Expression	[5]
COL1A2	TTUABC1	Strong	Genetic Variation	[6]
MMP2	TTLM12X	Strong	Biomarker	[7]
SOD1	TTP9K3Q	Strong	Biomarker	[3]
TAGLN	TTDRZ9H	Strong	Altered Expression	[8]
TGFB2	TTI0KH6	Strong	Genetic Variation	[9]
TGFBR1	TTP4520	Strong	Genetic Variation	[10]
DCN	TTB3XAN	Definitive	Altered Expression	[11]
EGF	TTED8JB	Definitive	Genetic Variation	[12]
TGFBR2	TTZE3P7	Definitive	Genetic Variation	[10]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC35A1	DTVZIRG	Limited	Biomarker	[13]
SLC3A1	DTBCKVM	Limited	Biomarker	[14]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
P3H2	DELB5PA	Limited	Genetic Variation	[15]

This Disease Is Related to 24 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACSM3	OT0AE1IV	Limited	Biomarker	[16]
CNN1	OTVPG39Z	Limited	Altered Expression	[8]
DCBLD2	OTB71I02	Limited	Biomarker	[17]
FADS3	OT9RVXGE	Limited	Biomarker	[18]
FBLN5	OTLVNZ8U	Limited	Biomarker	[19]
FBN3	OTEWLXTH	Limited	Genetic Variation	[20]
GAL3ST1	OTSFFZRD	Limited	Biomarker	[13]
GPR162	OTK4LT3K	Limited	Genetic Variation	[21]
LTBP2	OTS88GSD	Limited	Biomarker	[22]
MFAP4	OT5W64QY	Limited	Altered Expression	[23]
PKD1	OT5ALRZ5	Limited	Genetic Variation	[24]
RBM8A	OT5SR6G0	Limited	Biomarker	[25]
SLN	OTERIU75	Limited	Biomarker	[26]
SPESP1	OTWXKKTJ	Limited	Genetic Variation	[27]
SPRTN	OT01D5CE	Limited	Genetic Variation	[28]
SUMF2	OT37I8JL	Limited	Biomarker	[29]
ADAMTSL4	OTBILJMW	Strong	Genetic Variation	[15]
CD109	OTDADBM4	Strong	Altered Expression	[30]
COL3A1	OTT1EMLM	Strong	Genetic Variation	[31]
FBN2	OT3KYJQL	Strong	Genetic Variation	[32]
LAMC1	OTIG527N	Strong	Biomarker	[3]
MUS81	OTVZ4E60	Strong	Biomarker	[33]
ELN	OTFSO7PG	Definitive	Biomarker	[34]
FBN1	OTYCJT63	Definitive	Autosomal dominant	[35]

References

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• [22] LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. Hum Mutat. 2012 Aug;33(8):1182-7. doi: 10.1002/humu.22105. Epub 2012 May 29.
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• [24] A Pkd1-Fbn1 genetic interaction implicates TGF- signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease.J Am Soc Nephrol. 2014 Jan;25(1):81-91. doi: 10.1681/ASN.2012050486. Epub 2013 Sep 26.
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• [27] New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.BMC Genet. 2014 Jun 18;15:74. doi: 10.1186/1471-2156-15-74.
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• [29] Co-infection with two different Campylobacter jejuni strains in a patient with the Guillain-Barr syndrome.Microbes Infect. 2006 Jan;8(1):248-53. doi: 10.1016/j.micinf.2005.06.022. Epub 2005 Sep 13.
• [30] Characterization and Drug Sensitivity of a New High-Grade Myxofibrosarcoma Cell Line.Cells. 2018 Oct 25;7(11):186. doi: 10.3390/cells7110186.
• [31] Genetic determinants of juvenile stroke.Thromb Res. 2012 Mar;129(3):330-5. doi: 10.1016/j.thromres.2011.10.035. Epub 2011 Nov 21.
• [32] Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.Clin Genet. 2020 Feb;97(2):235-245. doi: 10.1111/cge.13640. Epub 2019 Oct 1.
• [33] Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice.Circ Res. 2007 Mar 16;100(5):738-46. doi: 10.1161/01.RES.0000260181.19449.95. Epub 2007 Feb 9.
• [34] Anatomically specific reactive oxygen species production participates in Marfan syndrome aneurysm formation.J Cell Mol Med. 2019 Oct;23(10):7000-7009. doi: 10.1111/jcmm.14587. Epub 2019 Aug 11.
• [35] 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.