Aliases & Classifications for Mass Syndrome

MalaCards integrated aliases for Mass Syndrome:

Name: Mass Syndrome 54 50 24 71 29 13
Overlap Connective Tissue Disease 50 71 69
Mass Phenotype 50 52
Octd 50 71



mass syndrome:
Inheritance autosomal dominant inheritance


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 tissueis 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 not otherwise specified 3-mga-uria type and tic disorder, and has symptoms including mitral valve prolapse, aortic dilatation and striae distensae. An important gene associated with Mass Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Signaling by Wnt and Wnt Signaling Pathway and Pluripotency. The drugs Ticagrelor and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include ovary, lung and bone, and related phenotypes are growth/size/body region and endocrine/exocrine gland

UniProtKB/Swiss-Prot : 71 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:


Human phenotypes related to Mass Syndrome:

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

MGI Mouse Phenotypes related to Mass Syndrome:

id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.65 FBN1 LEP LRP5 SOST WNT11
2 endocrine/exocrine gland MP:0005379 9.62 FBN1 LEP LRP5 WNT11
3 limbs/digits/tail MP:0005371 9.46 FBN1 LEP LRP5 SOST
4 pigmentation MP:0001186 9.13 LRP5 FBN1 LEP
5 skeleton MP:0005390 8.92 FBN1 LEP LRP5 SOST

Drugs & Therapeutics for Mass Syndrome

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

(show top 50) (show all 546)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Ticagrelor Approved Phase 4 274693-27-5 9871419
Methyltestosterone Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 58-18-4 6010
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-22-0 6013
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2 50-23-7 5754 657311
Metyrapone Approved Phase 4 54-36-4 4174
Amlodipine Approved Phase 4 88150-42-9 2162
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 14219 4091
Orlistat Approved, Investigational Phase 4,Phase 2 96829-58-2 3034010
Atenolol Approved Phase 4,Phase 3,Phase 2 29122-68-7 2249
Aripiprazole Approved, Investigational Phase 4,Phase 3 129722-12-9 60795
Dopamine Approved Phase 4,Phase 3,Phase 2 51-61-6, 62-31-7 681
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2 75614-87-8, 51-45-6 774
Ziprasidone Approved Phase 4,Phase 3 146939-27-7 60854
Olanzapine Approved, Investigational Phase 4,Phase 2,Phase 1 132539-06-1 4585
Risperidone Approved, Investigational Phase 4,Phase 3 106266-06-2 5073
Perindopril Approved Phase 4,Phase 3 107133-36-8, 82834-16-0 107807
Verapamil Approved Phase 4 52-53-9 2520
20 Poractant alfa Approved Phase 4 129069-19-8
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 1,Early Phase 1 50-28-2 5757
Progesterone Approved, Vet_approved Phase 4,Early Phase 1 57-83-0 5994
Zinc Approved Phase 4,Phase 2 7440-66-6 32051 23994
Drospirenone Approved Phase 4 67392-87-4 68873
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
Liraglutide Approved Phase 4,Phase 3 204656-20-2 44147092
Oxandrolone Approved, Investigational Phase 4 53-39-4 5878
Epinephrine Approved, Vet_approved Phase 4,Phase 3 51-43-4 5816
Mifepristone Approved, Investigational Phase 4,Phase 2 84371-65-3 55245
30 Racepinephrine Approved Phase 4,Phase 3
Alogliptin Approved Phase 4 850649-61-5 11450633
Pioglitazone Approved, Investigational Phase 4,Phase 2,Early Phase 1 111025-46-8 4829
Infliximab Approved Phase 4,Phase 2 170277-31-3
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
Lopinavir Approved Phase 4 192725-17-0 92727
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
Zidovudine Approved Phase 4 30516-87-1 35370
Cortisone acetate Approved Phase 4 1950-04-4, 50-04-4 5745
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 5460373 44475014
Milnacipran Approved Phase 4 92623-85-3 65833
Molindone Approved Phase 4 7416-34-4 23897
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
Iron Approved Phase 4 7439-89-6 23925
Candesartan Approved Phase 4 139481-59-7 2541
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2 50-02-2 5743
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0

Interventional clinical trials:

(show top 50) (show all 723)

id Name Status NCT ID Phase Drugs
1 Effects and Plasma Concentration of Ticagrelor, After Crushed and Non-crushed Intake, After Acute Coronary Syndrome Unknown status NCT02341729 Phase 4 ticagrelor
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 Testim;placebo
4 Comparing a Nucleoside-Analogue-Sparing Regimen and a Protease-Inhibitor-Sparing Regimen in HIV Infected Patients Unknown status NCT00135460 Phase 4 nucleoside analogue sparing HAART regimen
5 Cortisol and Nutritional Sympathetic Responsiveness Unknown status NCT01620684 Phase 4 metyrapone;placebo
6 Regression of Fatty Heart by Valsartan Therapy Unknown status NCT00745953 Phase 4 Valsartan;Hydrochlorothiazide
7 Surgical Ovarian Drilling Versus Hormonal Treatment for Infertility Associated to PolyCystic Ovaries Syndrome (PCOS) Unknown status NCT00378729 Phase 4 Metformin and FSHr
8 Increasing Cure Rate of Hepatitis C Therapy in Obese Hepatitis C Patients Unknown status NCT00871845 Phase 4 Orlistat
9 Comparison of Medical Therapies in Marfan Syndrome. Completed NCT01295047 Phase 4 Atenolol;VERAPAMIL;Perindopril
10 Oral Sildenafil in Persistent Pulmonary Hypertension Secondary to Meconium Aspiration Syndrome in Newborns Completed NCT01757782 Phase 4 Oral Sildenafil;Placebo (distilled water)
11 Lung Lavage With Dilute Poractant Alfa for Meconium Aspiration Syndrome Completed NCT02041546 Phase 4 Lung lavage with surfactant;Bolus surfactant
12 Safety and Efficacy of Aripiprazole and Ziprasidone Among Schizophrenic Patients With Metabolic Syndrome Completed NCT01714011 Phase 4 Ziprasidone;Aripiprazole
13 Testosterone Replacement in Metabolic Syndrome and Inflammation Completed NCT01123278 Phase 4 Testosterone;Placebo
14 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
15 Metformin and Lifestyle Intervention in Women With Polycystic Ovary Syndrome Completed NCT00679679 Phase 4 Metformin;Placebo
16 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 GIK solution
17 The Effects of Aripiprazole on Patients With Metabolic Syndrome Completed NCT00224822 Phase 4 Aripiprazole
18 Low Dose OC Therapy in Women With Polycystic Ovary Syndrome (PCOS): Impact of BMI on Hyperandrogenism Completed NCT01360996 Phase 4 3 mg DRSP/20 μg EE
19 Ziprasidone for Improving Insulin Sensitivity in People With Schizophrenia Who Are at Risk for Diabetes Completed NCT00338949 Phase 4 Ziprasidone;Standard atypical antipsychotic drug
20 Polycystic Ovary Syndrome and Liraglutide Completed NCT01899430 Phase 4 liraglutide;metformin
21 Polycystic Ovary Syndrome and Liraglutide as Add-on Therapy on Metformin Completed NCT01911468 Phase 4 metformin;liraglutide;metformin and liraglutide
22 PDE-4 Inhibitor Roflumilast and Polycystic Ovary Syndrome Completed NCT02037672 Phase 4 metformin;metformin and roflumilast
23 PDE-4 Inhibitor Roflumilast and GLP-1 Agonist Liraglutide in Polycystic Ovary Syndrome Completed NCT02187250 Phase 4 metformin;liraglutide;roflumilast
24 Nutrition Intervention in AIDS Wasting Completed NCT00006167 Phase 4 oxandrolone
25 Glucocorticoid Receptor Blockade With Mifepristone in Patients With Mild Adrenal Hypercortisolism Completed NCT01990560 Phase 4 Mifepristone
26 Comparison of Alogliptin Versus Alogliptin and Pioglitazone on Insulin Resistance of Metformin Treated Women With PCOS Completed NCT02683226 Phase 4 Vipdomet;Incresync
27 Weight Maintenance With Dipeptidyl Peptidase 4 (DPP4) Inhibitor Sitagliptin in Combination With Metformin After Liragludite Induced Weight Loss Completed NCT02941445 Phase 4 sitagliptin and metformin;Metformin
28 Low Dose Liraglutide and Metformin vs. High Dose Liraglutide Alone in Treatment of Obesity Completed NCT02909933 Phase 4 liraglutide;metformin and liraglutide
29 Liraglutide as Add on Therapy on Metformin in Women With Polycystic Ovary Syndrome Completed NCT02483299 Phase 4 Metformin;Glucophage tablets and Victoza
30 Effects of Infliximab on Insulin Sensitivity and Beta Cell Function in Insulin Resistant Human Obesity Completed NCT00636142 Phase 4
31 Switching From Zidovudine to an NNRTI or Lopinavir/Ritonavir in Patients Treated With Zidovudine/ Lamivudine/Abacavir. Completed NCT00139178 Phase 4 Different HAART regimens
32 Effect of Cholecalciferol, Soy Isoflavones in Patients With Irritable Bowel Syndrome Completed NCT02026518 Phase 4
33 Metformin for Treatment Antipsychotic-induced Metabolic Syndrome in Bipolar Disorder Patients Completed NCT02644577 Phase 4 Metformin
34 Effect of 5 Years of GH Replacement on Atherosclerosis Completed NCT00462475 Phase 4 Recombinant Growth Hormone, Genotropin (Pfizer)
35 Study to Determine the Effects of Human Growth Hormone and Pioglitazone in Overweight, Prediabetic Adults Completed NCT00352287 Phase 4 Recombinant human growth hormone; pioglitazone
36 An Observational Study On Metabolic Syndrome Parameters In Schizophrenia Patients Treated With Atypical Antipsychotics Completed NCT00448630 Phase 4
37 Dual RElease Hydrocortisone Versus conventionAl Glucocorticoid replaceMent Therapy in Hypocortisolism (DREAM) Completed NCT02277587 Phase 4 Plenadren;Conventional glucocorticoid therapy
38 Erythropoietin in the Prevention of Acute Mountain Sickness Completed NCT01665781 Phase 4 Erythropoietin
39 Study of Reyataz in HIV-infected Patients With Lipodystrophy Syndrome Completed NCT00135356 Phase 4 Atazanavir (ATV) + ritonavir (RTV), continuation of backbone 2 nucleoside reverse transcriptase inhibitor (NRTIs);continuation of current HAART (boosted protease inhibitor [PI] combination + 2 NRTIs)
40 Effect of Dapagliflozin Administration on Metabolic Syndrome, Insulin Sensitivity, and Insulin Secretion Completed NCT02113241 Phase 4 Dapagliflozin;Placebo
41 MRI Substudy; Metabolic Changes Due to Iatrogenic Hypogonadism Completed NCT02102646 Phase 4 Triptorelin
42 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 Sublingual orally disintegrating olanzapine (SODO);Oral olanzapine
43 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 Folic acid, vit B12;Folic acid, vit B12
44 Effect of Milnacipran on Pain in Fibromyalgia Completed NCT01288807 Phase 4 Milnacipram
45 Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS) Completed NCT00053703 Phase 4 Risperidone;Olanzapine (enrollment closed in this treatment);Molindone
46 Trial Comparing Metabolic Effects of Telmisartan and Amlodipine on Hypertensive Patients With Obesity and Diabetes Completed NCT00847262 Phase 4 Temisartan;Amlodipine
47 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4 deferasirox
48 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
49 Efficacy Study of Early Onset of Antipsychotic Drug Action in Schizophrenia Completed NCT00337662 Phase 4 olanzapine;risperidone;risperidone
50 A Randomized, Double-Blind, Active Control Trial Comparing Effects of Telmisartan, Candesartan and Amlodipine, Alone or Plus Metformin, on Non-Diabetic, Obese Hypertensive Patients Completed NCT00538486 Phase 4 Telmisartan plus Metformin;Telmisartan;Candesartan;Candesartan plus Metformin;Amlodipine;Amlodipine plus Metformin

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:

Ovary, Lung, Bone, Skin, Heart, Liver, Kidney

Publications for Mass Syndrome

Articles related to Mass Syndrome:

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

Variations for Mass Syndrome

ClinVar genetic disease variations for Mass Syndrome:

id Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.5134_5137dup (p.Asn1713Ilefs) duplication Pathogenic rs1131692049 GRCh38 Chromosome 15, 48463169: 48463172

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 extracellular region GO:0005576 9.46 FBN1 LEP SOST WNT11
2 extracellular space GO:0005615 9.26 FBN1 LEP SOST WNT11
3 proteinaceous extracellular matrix GO:0005578 8.8 FBN1 SOST WNT11

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.65 LRP5 SOST WNT11
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.51 SOST WNT11
3 kidney development GO:0001822 9.49 FBN1 WNT11
4 cholesterol metabolic process GO:0008203 9.46 LEP LRP5
5 canonical Wnt signaling pathway GO:0060070 9.43 LRP5 WNT11
6 cellular response to retinoic acid GO:0071300 9.4 LEP WNT11
7 regulation of blood pressure GO:0008217 9.37 LEP LRP5
8 Wnt signaling pathway GO:0016055 9.33 LRP5 SOST WNT11
9 response to nutrient levels GO:0031667 9.32 LEP WNT11
10 adipose tissue development GO:0060612 9.26 LEP LRP5
11 negative regulation of cartilage development GO:0061037 8.96 LEP WNT11
12 regulation of bone remodeling GO:0046850 8.62 LEP LRP5

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 8.96 FBN1 SOST
2 hormone activity GO:0005179 8.62 FBN1 LEP

Sources for Mass Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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