OCTD
MCID: MSS002
MIFTS: 48

Mass Syndrome (OCTD) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Mass Syndrome

Aliases & Descriptions for Mass Syndrome:

Name: Mass Syndrome 54 50 24 66 29 13
Overlap Connective Tissue Disease 50 66 69
Mass Phenotype 50 52
Octd 50 66

Characteristics:

HPO:

32
mass syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 604308
MedGen 40 C1858556

Summaries for Mass Syndrome

NIH Rare Diseases : 50 mass (mitral valve prolapse, aortic enlargement, skin and skeletal findings) syndrome is 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 individual’s symptoms. last updated: 11/30/2011

MalaCards based summary : Mass Syndrome, also known as overlap connective tissue disease, is related to fibrogenesis imperfecta ossium and frontotemporal lobar degeneration with ubiquitin-positive inclusions, and has symptoms including aortic dilatation, striae distensae and disproportionate tall stature. An important gene associated with Mass Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Ticagrelor and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are cardiovascular system and growth/size/body region

UniProtKB/Swiss-Prot : 66 Overlap connective tissue disease: Heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable.

Description from OMIM: 604308

Related Diseases for Mass Syndrome

Graphical network of the top 20 diseases related to Mass Syndrome:



Diseases related to Mass Syndrome

Symptoms & Phenotypes for Mass Syndrome

Clinical features from OMIM:

604308

Human phenotypes related to Mass Syndrome:

32
id Description HPO Frequency HPO Source Accession
1 aortic dilatation 32 HP:0001724
2 striae distensae 32 HP:0001065
3 disproportionate tall stature 32 HP:0001519
4 mitral valve prolapse 32 HP:0001634
5 abnormality of the sternum 32 HP:0000766

MGI Mouse Phenotypes related to Mass Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 ACVRL1 BMPR2 FBN1 HSPG2 LEP LRP5
2 growth/size/body region MP:0005378 9.81 ACVRL1 BMPR2 DSG1 FBN1 HSPG2 LEP
3 embryo MP:0005380 9.73 ACVRL1 BMPR2 FBN1 HSPG2 LEP LRP5
4 craniofacial MP:0005382 9.72 ACVRL1 FBN1 HSPG2 LRP5 WNT11
5 limbs/digits/tail MP:0005371 9.35 LEP LRP5 SOST FBN1 HSPG2
6 skeleton MP:0005390 9.17 BMPR2 DSG1 FBN1 HSPG2 LEP LRP5

Drugs & Therapeutics for Mass Syndrome

Drugs for Mass Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 626)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ticagrelor Approved Phase 4 274693-27-5 9871419
2
Methyltestosterone Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 58-18-4 6010
3
Testosterone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 58-22-0 6013
4
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 1 50-23-7 5754 657311
5
Metyrapone Approved Phase 4 54-36-4 4174
6
Amlodipine Approved Phase 4 88150-42-9 2162
7
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3 58-93-5 3639
8
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
9
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 14219 4091
10
Cortisone acetate Approved Phase 4,Phase 2 1950-04-4, 50-04-4 5745
11
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 51-43-4 5816
12
Orlistat Approved, Investigational Phase 4,Phase 2 96829-58-2 3034010
13
Atenolol Approved Phase 4,Phase 3,Phase 2 29122-68-7 2249
14
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2 129722-12-9 60795
15
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
16
Histamine Approved, Investigational Phase 4,Phase 2 75614-87-8, 51-45-6 774
17
Ziprasidone Approved Phase 4,Phase 3,Phase 2 146939-27-7 60854
18
Zinc Approved Phase 4,Phase 3,Phase 2 7440-66-6 32051 23994
19
Olanzapine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 132539-06-1 4585
20
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 1 106266-06-2 5073
21
Perindopril Approved Phase 4,Phase 3 107133-36-8, 82834-16-0 107807
22
Verapamil Approved Phase 4 52-53-9 2520
23 Poractant alfa Approved Phase 4 129069-19-8
24
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 1,Early Phase 1 50-28-2 5757 53477783
25
Progesterone Approved, Vet_approved Phase 4,Early Phase 1 57-83-0 5994
26
Drospirenone Approved Phase 4 67392-87-4 68873
27
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
28
Liraglutide Approved Phase 4,Phase 3 204656-20-2
29
Oxandrolone Approved, Investigational Phase 4 53-39-4 5878
30
Mifepristone Approved, Investigational Phase 4,Phase 2 84371-65-3 55245
31
Alogliptin Approved Phase 4 850649-61-5 11450633
32
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 111025-46-8 4829
33
Infliximab Approved Phase 4 170277-31-3
34
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
35
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 1 134678-17-4 60825
36
Lopinavir Approved Phase 4,Phase 3 192725-17-0 92727
37
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2 155213-67-5 392622
38
Zidovudine Approved Phase 4 30516-87-1 35370
39
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 5460373 44475014
40
Milnacipran Approved Phase 4 92623-85-3 65833
41
Molindone Approved Phase 4 7416-34-4 23897
42
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
43
Deferasirox Approved, Investigational Phase 4,Phase 2 201530-41-8 5493381
44
Iron Approved Phase 4,Phase 3,Phase 2 7439-89-6 23925
45
Candesartan Approved Phase 4 139481-59-7 2541
46
Efavirenz Approved, Investigational Phase 4,Phase 1 154598-52-4 64139
47
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2 143491-57-0 60877
48
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2 147127-20-6 464205
49
Nevirapine Approved Phase 4 129618-40-2 4463
50
Sulfamethoxazole Approved Phase 4 723-46-6 5329

Interventional clinical trials:

(show top 50) (show all 826)
id Name Status NCT ID Phase
1 Effects and Plasma Concentration of Ticagrelor, After Crushed and Non-crushed Intake, After Acute Coronary Syndrome Unknown status NCT02341729 Phase 4
2 Continuous Positive Airway Pressure in Sleep Apnea Syndrome: Effects on Metabolic Syndrome and Cardiac Damage Unknown status NCT00517777 Phase 4
3 Odense Androgen Study - The Effect of Testim and Training in Hypogonadal Men Unknown status NCT00700024 Phase 4
4 Comparing a Nucleoside-Analogue-Sparing Regimen and a Protease-Inhibitor-Sparing Regimen in HIV Infected Patients Unknown status NCT00135460 Phase 4
5 Cortisol and Nutritional Sympathetic Responsiveness Unknown status NCT01620684 Phase 4
6 Regression of Fatty Heart by Valsartan Therapy Unknown status NCT00745953 Phase 4
7 Surgical Ovarian Drilling Versus Hormonal Treatment for Infertility Associated to PolyCystic Ovaries Syndrome (PCOS) Unknown status NCT00378729 Phase 4
8 Dual RElease Hydrocortisone Versus conventionAl Glucocorticoid replaceMent Therapy in Hypocortisolism (DREAM) Unknown status NCT02277587 Phase 4
9 Increasing Cure Rate of Hepatitis C Therapy in Obese Hepatitis C Patients Unknown status NCT00871845 Phase 4
10 The Therapeutic Effect of Catgut Embedding in Obesity Unknown status NCT02276235 Phase 4
11 Comparison of Medical Therapies in Marfan Syndrome. Completed NCT01295047 Phase 4
12 Oral Sildenafil in Persistent Pulmonary Hypertension Secondary to Meconium Aspiration Syndrome in Newborns Completed NCT01757782 Phase 4
13 Lung Lavage With Dilute Poractant Alfa for Meconium Aspiration Syndrome Completed NCT02041546 Phase 4
14 Safety and Efficacy of Aripiprazole and Ziprasidone Among Schizophrenic Patients With Metabolic Syndrome Completed NCT01714011 Phase 4
15 Testosterone Replacement in Metabolic Syndrome and Inflammation Completed NCT01123278 Phase 4
16 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4
17 Metformin and Lifestyle Intervention in Women With Polycystic Ovary Syndrome Completed NCT00679679 Phase 4
18 Effect of Glucose-insulin-potassium Solution on Myocardial Protection During Off-pump Coronary Bypass Surgery in Patients With Acute Coronary Syndrome Completed NCT01384656 Phase 4
19 The Effects of Aripiprazole on Patients With Metabolic Syndrome Completed NCT00224822 Phase 4
20 Low Dose OC Therapy in Women With Polycystic Ovary Syndrome (PCOS): Impact of BMI on Hyperandrogenism Completed NCT01360996 Phase 4
21 Ziprasidone for Improving Insulin Sensitivity in People With Schizophrenia Who Are at Risk for Diabetes Completed NCT00338949 Phase 4
22 Polycystic Ovary Syndrome and Liraglutide Completed NCT01899430 Phase 4
23 Polycystic Ovary Syndrome and Liraglutide as Add-on Therapy on Metformin Completed NCT01911468 Phase 4
24 PDE-4 Inhibitor Roflumilast and Polycystic Ovary Syndrome Completed NCT02037672 Phase 4
25 PDE-4 Inhibitor Roflumilast and GLP-1 Agonist Liraglutide in Polycystic Ovary Syndrome Completed NCT02187250 Phase 4
26 Nutrition Intervention in AIDS Wasting Completed NCT00006167 Phase 4
27 Glucocorticoid Receptor Blockade With Mifepristone in Patients With Mild Adrenal Hypercortisolism Completed NCT01990560 Phase 4
28 Comparison of Alogliptin Versus Alogliptin and Pioglitazone on Insulin Resistance of Metformin Treated Women With PCOS Completed NCT02683226 Phase 4
29 Weight Maintenance With Dipeptidyl Peptidase 4 (DPP4) Inhibitor Sitagliptin in Combination With Metformin After Liragludite Induced Weight Loss Completed NCT02941445 Phase 4
30 Low Dose Liraglutide and Metformin vs. High Dose Liraglutide Alone in Treatment of Obesity Completed NCT02909933 Phase 4
31 Liraglutide as Add on Therapy on Metformin in Women With Polycystic Ovary Syndrome Completed NCT02483299 Phase 4
32 Effects of Infliximab on Insulin Sensitivity and Beta Cell Function in Insulin Resistant Human Obesity Completed NCT00636142 Phase 4
33 Switching From Zidovudine to an NNRTI or Lopinavir/Ritonavir in Patients Treated With Zidovudine/ Lamivudine/Abacavir. Completed NCT00139178 Phase 4
34 Effect of Cholecalciferol, Soy Isoflavones in Patients With Irritable Bowel Syndrome Completed NCT02026518 Phase 4
35 Metformin for Treatment Antipsychotic-induced Metabolic Syndrome in Bipolar Disorder Patients Completed NCT02644577 Phase 4
36 Effect of 5 Years of GH Replacement on Atherosclerosis Completed NCT00462475 Phase 4
37 Study to Determine the Effects of Human Growth Hormone and Pioglitazone in Overweight, Prediabetic Adults Completed NCT00352287 Phase 4
38 An Observational Study On Metabolic Syndrome Parameters In Schizophrenia Patients Treated With Atypical Antipsychotics Completed NCT00448630 Phase 4
39 Erythropoietin in the Prevention of Acute Mountain Sickness Completed NCT01665781 Phase 4
40 Study of Reyataz in HIV-infected Patients With Lipodystrophy Syndrome Completed NCT00135356 Phase 4
41 Effect of Dapagliflozin Administration on Metabolic Syndrome, Insulin Sensitivity, and Insulin Secretion Completed NCT02113241 Phase 4
42 MRI Substudy; Metabolic Changes Due to Iatrogenic Hypogonadism Completed NCT02102646 Phase 4
43 Comparing the Effect of Under the Tongue Olanzapine Versus Swallowed Olanzapine on Body Mass Index (A Ratio of Weight to Height) Completed NCT00303602 Phase 4
44 Myo-inositol Versus D-chiro-inositol in the Treatment of Polycystic Ovary Syndrome and Insulin Resistance: Evaluation of Clinical, Metabolic, Endocrine and Ultrasound Parameters Completed NCT01514942 Phase 4
45 Effect of Milnacipran on Pain in Fibromyalgia Completed NCT01288807 Phase 4
46 Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS) Completed NCT00053703 Phase 4
47 Trial Comparing Metabolic Effects of Telmisartan and Amlodipine on Hypertensive Patients With Obesity and Diabetes Completed NCT00847262 Phase 4
48 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4
49 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
50 Efficacy Study of Early Onset of Antipsychotic Drug Action in Schizophrenia Completed NCT00337662 Phase 4

Search NIH Clinical Center for Mass Syndrome

Genetic Tests for Mass Syndrome

Genetic tests related to Mass Syndrome:

id Genetic test Affiliating Genes
1 Mass Syndrome 29 24 FBN1

Anatomical Context for Mass Syndrome

MalaCards organs/tissues related to Mass Syndrome:

39
Skin

Publications for Mass Syndrome

Articles related to Mass Syndrome:

id Title Authors Year
1
Anesthetic evaluation and perioperative management in a patient with new onset mediastinal mass syndrome presenting for emergency surgery. ( 22606395 )
2011
2
Mediastinal mass syndrome. ( 15829000 )
2005
3
AAEM case report 33: costoclavicular mass syndrome. American Association of Electrodiagnostic Medicine. ( 10086905 )
1999
4
New-onset headache in an adolescent with MASS syndrome. ( 10522336 )
1999
5
Iliac fossa mass syndrome in hemophilia. ( 5467217 )
1970

Variations for Mass Syndrome

ClinVar genetic disease variations for Mass Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 FBN1, 4-BP INS, NT5138 insertion Pathogenic

Expression for Mass Syndrome

Search GEO for disease gene expression data for Mass Syndrome.

Pathways for Mass Syndrome

GO Terms for Mass Syndrome

Cellular components related to Mass Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.56 ACVRL1 APOH BMPR2 HLA-A
2 extracellular space GO:0005615 9.5 APOH BMPR2 FBN1 HSPG2 LEP SOST
3 proteinaceous extracellular matrix GO:0005578 9.46 FBN1 HSPG2 SOST WNT11
4 extracellular matrix GO:0031012 9.02 APOH DSG1 FBN1 HSPG2 SOST

Biological processes related to Mass Syndrome according to GeneCards Suite gene sharing:

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.78 LRP5 SOST WNT11
2 negative regulation of cell growth GO:0030308 9.7 ACVRL1 BMPR2 WNT11
3 cellular response to BMP stimulus GO:0071773 9.6 ACVRL1 BMPR2
4 positive regulation of BMP signaling pathway GO:0030513 9.59 ACVRL1 BMPR2
5 blood vessel remodeling GO:0001974 9.58 ACVRL1 BMPR2
6 ventricular septum morphogenesis GO:0060412 9.58 BMPR2 WNT11
7 adipose tissue development GO:0060612 9.57 LEP LRP5
8 negative regulation of endothelial cell proliferation GO:0001937 9.56 ACVRL1 APOH
9 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.55 ACVRL1 BMPR2
10 negative regulation of endothelial cell migration GO:0010596 9.54 ACVRL1 APOH
11 regulation of blood pressure GO:0008217 9.54 ACVRL1 LEP LRP5
12 activin receptor signaling pathway GO:0032924 9.51 ACVRL1 BMPR2
13 negative regulation of DNA biosynthetic process GO:2000279 9.49 ACVRL1 BMPR2
14 lymphangiogenesis GO:0001946 9.48 ACVRL1 BMPR2
15 negative regulation of cartilage development GO:0061037 9.46 LEP WNT11
16 artery development GO:0060840 9.43 ACVRL1 BMPR2
17 retina vasculature development in camera-type eye GO:0061298 9.4 ACVRL1 BMPR2
18 regulation of bone remodeling GO:0046850 9.32 LEP LRP5
19 lymphatic endothelial cell differentiation GO:0060836 9.26 ACVRL1 BMPR2
20 regulation of endothelial cell proliferation GO:0001936 9.16 ACVRL1 LEP
21 venous blood vessel development GO:0060841 8.96 ACVRL1 BMPR2
22 negative regulation of vasoconstriction GO:0045906 8.62 BMPR2 LEP

Molecular functions related to Mass Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.33 APOH FBN1 SOST
2 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.96 ACVRL1 BMPR2
3 BMP receptor activity GO:0098821 8.62 ACVRL1 BMPR2

Sources for Mass Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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