Details of Disease

General Information of Disease (ID: DISI3721)

• Disease Name: MASS syndrome
• Synonyms: overlap connective tissue disease; OCTD; Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings; MASS phenotype; MASS syndrome
• Definition: A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.
• Disease Hierarchy:
  DISSDDNA: Overlapping connective tissue disease
  DIS8I9FS: Hereditary disorder of connective tissue
  DISI3721: MASS syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0011431
  MESH ID: C536030
  UMLS CUI: C1858556
  OMIM ID: 604308
  MedGen ID: 346932
  Orphanet ID: 99715

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ARSB	TTESQTG	Limited	Biomarker	[1]
LRP5	TT7VMG4	Limited	Biomarker	[2]
DKK1	TTE3RAC	Strong	Biomarker	[3]
S1PR3	TTDYP7I	Strong	Altered Expression	[4]
SOST	TTYRO4F	Strong	Biomarker	[5]

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANKH	OTCN25R5	Strong	Genetic Variation	[6]
FERMT2	OTZNPWWX	Strong	Biomarker	[7]
NEGR1	OT57ECW9	Strong	Biomarker	[8]
SLIT3	OTU8MKEU	Strong	Genetic Variation	[9]
SMURF1	OT5UIZR8	Strong	Biomarker	[10]
SMURF2	OT3TRVL7	Strong	Biomarker	[10]
FBN1	OTYCJT63	Definitive	Autosomal dominant	[11]

References

• [1] The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover.J Bone Miner Res. 2018 Dec;33(12):2186-2201. doi: 10.1002/jbmr.3563. Epub 2018 Aug 24.
• [2] The high bone mass phenotype of Lrp5-mutant mice is not affected by megakaryocyte depletion.Biochem Biophys Res Commun. 2018 Mar 4;497(2):659-666. doi: 10.1016/j.bbrc.2018.02.127. Epub 2018 Feb 15.
• [3] Increased anabolic bone response in Dkk1 KO mice following tibial compressive loading.Bone. 2020 Feb;131:115054. doi: 10.1016/j.bone.2019.115054. Epub 2019 Sep 12.
• [4] Deficiency of sphingosine-1-phosphate receptor 3 does not affect the skeletal phenotype of mice lacking sphingosine-1-phosphate lyase.PLoS One. 2019 Jul 17;14(7):e0219734. doi: 10.1371/journal.pone.0219734. eCollection 2019.
• [5] Lrp4 expression by adipocytes and osteoblasts differentially impacts sclerostin's endocrine effects on body composition and glucose metabolism.J Biol Chem. 2019 Apr 26;294(17):6899-6911. doi: 10.1074/jbc.RA118.006769. Epub 2019 Mar 6.
• [6] A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).Hum Mol Genet. 2011 Mar 1;20(5):948-61. doi: 10.1093/hmg/ddq541. Epub 2010 Dec 13.
• [7] Lipoatrophy and metabolic disturbance in mice with adipose-specific deletion of kindlin-2.JCI Insight. 2019 Jul 11;4(13):e128405. doi: 10.1172/jci.insight.128405. eCollection 2019 Jul 11.
• [8] Functional inactivation of the genome-wide association study obesity gene neuronal growth regulator 1 in mice causes a body mass phenotype.PLoS One. 2012;7(7):e41537. doi: 10.1371/journal.pone.0041537. Epub 2012 Jul 23.
• [9] Targeting skeletal endothelium to ameliorate bone loss.Nat Med. 2018 Jun;24(6):823-833. doi: 10.1038/s41591-018-0020-z. Epub 2018 May 21.
• [10] SMURF2 regulates bone homeostasis by disrupting SMAD3 interaction with vitamin D receptor in osteoblasts.Nat Commun. 2017 Feb 20;8:14570. doi: 10.1038/ncomms14570.
• [11] Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics. 1993 Aug;17(2):468-75. doi: 10.1006/geno.1993.1349.