MFS
MCID: MRF001
MIFTS: 75

Marfan Syndrome (MFS)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Marfan Syndrome

MalaCards integrated aliases for Marfan Syndrome:

Name: Marfan Syndrome 57 12 76 24 53 25 59 75 37 29 13 55 6 43 44 15 38 63 40 73
Mfs 57 25 59 75
Marfan's Syndrome 12 25
Mfs1 57 75
Marfanoid Hypermobility Syndrome 73
Marfan Syndrome, Type I; Mfs1 57
Contractural Arachnodactyly 53
Marfan Syndrome, Type I 57
Marfan Syndrome Type 1 75

Characteristics:

Orphanet epidemiological data:

59
marfan syndrome
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
about 25% of cases due to new mutations


HPO:

32
marfan syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Although intrafamilial clinical variability can be extensive, marfan syndrome shows high clinical penetrance...

Classifications:



Summaries for Marfan Syndrome

MedlinePlus : 43 Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs. There is no single test to diagnose Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

MalaCards based summary : Marfan Syndrome, also known as mfs, is related to neonatal marfan syndrome and marden-walker syndrome. An important gene associated with Marfan Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Atenolol and Verapamil have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related phenotypes are pectus excavatum and osteopenia

Disease Ontology : 12 A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.

Genetics Home Reference : 25 Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

NIH Rare Diseases : 53 Marfan syndrome is 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.

OMIM : 57 A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (121050), which is caused by mutation in the FBN2 gene (612570). Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations. (154700)

UniProtKB/Swiss-Prot : 75 Marfan syndrome: A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.

PubMed Health : 63 About marfan syndrome: Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops.Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects many parts of the body, it can cause many complications. Sometimes the complications are life threatening.

Wikipedia : 76 Marfan syndrome (MFS) is a genetic disorder of the connective tissue. The degree to which people are... more...

GeneReviews: NBK1335

Related Diseases for Marfan Syndrome

Diseases related to Marfan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 276)
# Related Disease Score Top Affiliating Genes
1 neonatal marfan syndrome 33.9 DCN FBN1
2 marden-walker syndrome 32.0 FBN2 FBN1
3 aortic aneurysm, familial thoracic 1 31.3 TGFBR2 TGFBR1 MMP2 FBN1 ELN COL3A1
4 connective tissue disease 31.3 FBN2 FBN1 ELN COL3A1 COL1A2 ACTA2
5 isolated ectopia lentis 30.7 FBN1 CBS
6 lens subluxation 30.5 FBN1 CBS
7 pneumothorax 30.4 ELN FBN1 MMP2
8 nontuberculous mycobacterial lung disease 30.3 FBN1 BMP6
9 aortic disease 30.2 TGFBR2 TGFBR1 MMP2 FBN1 ELN ACTA2
10 orthostatic intolerance 30.2 FBN2 FBN1 ELN AGTR1
11 aortic valve disease 1 30.1 TGFBR2 FBN2 FBN1 ELN ACTA2
12 aortic aneurysm, familial abdominal, 1 30.0 MMP2 FBN1 ELN DCN
13 aortic aneurysm 30.0 TGFBR2 TGFBR1 FBN2 FBN1 ELN COL3A1
14 ehlers-danlos syndrome 30.0 COL5A2 COL3A1 COL1A2
15 scleroderma, familial progressive 29.9 FBN1 COL1A2 BMP6
16 stiff skin syndrome 29.9 FBN1 COL1A2
17 weill-marchesani syndrome 29.7 FBN1 FBN2 LTBP2
18 aortic coarctation 29.6 FBN1 AGTR1
19 brittle bone disorder 29.6 COL1A2 COL3A1 DCN
20 loeys-dietz syndrome 29.6 TGFBR2 TGFBR1 FBN2 FBN1 COL5A2 COL3A1
21 loeys-dietz syndrome 2 12.2
22 arthrogryposis, distal, type 9 11.5
23 mass syndrome 11.5
24 mycosis fungoides 11.5
25 pneumothorax, primary spontaneous 11.5
26 scoliosis, isolated 1 11.3
27 arachnoid cysts 11.3
28 monofixation syndrome 11.2
29 homocystinuria due to cystathionine beta-synthase deficiency 11.1
30 marfan lipodystrophy syndrome 11.1
31 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 11.1
32 antley-bixler syndrome 11.1
33 achard syndrome 11.0
34 ectopia lentis 1, isolated, autosomal dominant 11.0
35 marfanoid hypermobility syndrome 11.0
36 shprintzen-goldberg craniosynostosis syndrome 11.0
37 ectopia lentis 2, isolated, autosomal recessive 11.0
38 megalocornea 11.0
39 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 11.0
40 lujan-fryns syndrome 11.0
41 marfanoid habitus-autosomal recessive intellectual disability syndrome 11.0
42 mounier-kuhn syndrome 11.0
43 pectus carinatum 11.0
44 myelofibrosis 10.4
45 polycythemia vera 10.3
46 scoliosis 10.2
47 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.2 ELN FBN1
48 late-onset focal dermal elastosis 10.2 ELN FBN1
49 essential thrombocythemia 10.2
50 polycythemia 10.2

Comorbidity relations with Marfan Syndrome via Phenotypic Disease Network (PDN):


Aortic Valve Disease 1

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



Diseases related to Marfan Syndrome

Symptoms & Phenotypes for Marfan Syndrome

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum
pectus asymmetric sternum

Head And Neck Mouth:
narrow palate
high-arched palate

Muscle Soft Tissue:
decreased muscle mass
decreased subcutaneous fat

Cardiovascular Heart:
congestive heart failure
mitral regurgitation
mitral valve prolapse
tricuspid valve prolapse
aortic regurgitation
more
Skeletal Limbs:
genu recurvatum
joint hypermobility
joint contractures
long bone overgrowth (dolichostenomelia)

Cardiovascular Vascular:
aortic dissection
pulmonary artery dilatation
aortic root dilatation
ascending aortic aneurysm
aneurysm of other aortic segments rare

Skeletal Hands:
arachnodactyly

Head And Neck Teeth:
crowded teeth

Growth Other:
puberty-associated peak in growth velocity is 2.4 years earlier for males and 2.2 years earlier for females

Skeletal:
premature arthritis

Laboratory Abnormalities:
decreased fibrillin-1 immunostaining in the dermis

Skeletal Spine:
scoliosis
spondylolisthesis
kyphoscoliosis
thoracic lordosis
lumbosacral dural ectasia

Skeletal Feet:
pes planus
pes cavus
hammer toes
long, narrow feet
medial rotation of the medial malleolus

Head And Neck Face:
micrognathia
retrognathia
malar hypoplasia
long, narrow face

Head And Neck Head:
dolichocephaly

Head And Neck Eyes:
myopia
retinal detachment
ectopia lentis
increased axial globe length
downslanting palpebral fissures
more
Skin Nails Hair Skin:
striae distensae
decreased subcutaneous fat

Respiratory Lung:
pneumothorax
emphysema in most severe presentation
pulmonary blebs

Growth Height:
mean length at birth 53 +/- 4.4 cm for males
mean length at birth 52.5 +/- 3.5 cm for females
mean adult height 191.3 +/- 9 cm for males
mean adult height 175.4 +/- 8.2 cm for females
disproportionate tall stature, upper to lower segment ratio less than 0.85
more
Abdomen External Features:
recurrent or incisional hernia

Skeletal Pelvis:
protrusio acetabulae


Clinical features from OMIM:

154700

Human phenotypes related to Marfan Syndrome:

59 32 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
2 osteopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000938
3 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
4 sleep disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0002360
5 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
6 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
7 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
8 open bite 59 32 occasional (7.5%) Occasional (29-5%) HP:0010807
9 pectus carinatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000768
10 pes planus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001763
11 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
12 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
13 emphysema 59 32 occasional (7.5%) Occasional (29-5%) HP:0002097
14 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
15 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
16 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
17 retrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000278
18 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
19 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
20 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
21 high, narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0002705
22 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
23 arterial dissection 59 32 occasional (7.5%) Occasional (29-5%) HP:0005294
24 myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003326
25 cachexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004326
26 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
27 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
28 striae distensae 59 32 hallmark (90%) Very frequent (99-80%) HP:0001065
29 arachnodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001166
30 disproportionate tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0001519
31 slender build 59 32 hallmark (90%) Very frequent (99-80%) HP:0001533
32 spontaneous pneumothorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0002108
33 chronic fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012432
34 narrow face 59 32 frequent (33%) Frequent (79-30%) HP:0000275
35 dental crowding 59 32 frequent (33%) Frequent (79-30%) HP:0000678
36 ectopia lentis 59 32 Frequent (79-30%) HP:0001083
37 lens subluxation 59 32 frequent (33%) Frequent (79-30%) HP:0001132
38 joint hypermobility 59 32 frequent (33%) Frequent (79-30%) HP:0001382
39 mitral valve prolapse 59 32 frequent (33%) Frequent (79-30%) HP:0001634
40 protrusio acetabuli 59 32 very rare (1%) Frequent (79-30%) HP:0003179
41 arthralgia/arthritis 59 32 frequent (33%) Frequent (79-30%) HP:0005059
42 lens luxation 59 32 frequent (33%) Frequent (79-30%) HP:0012019
43 dural ectasia 59 32 frequent (33%) Frequent (79-30%) HP:0100775
44 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
45 hemoptysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002105
46 meningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002435
47 limited elbow movement 59 32 occasional (7.5%) Occasional (29-5%) HP:0002996
48 spondylolisthesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003302
49 mitral valve calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0004382
50 pulmonary artery dilatation 59 32 occasional (7.5%) Occasional (29-5%) HP:0004927

MGI Mouse Phenotypes related to Marfan Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.14 ACTA2 AGTR1 COL1A2 COL3A1 COL5A2 FBN1
2 growth/size/body region MP:0005378 10.11 AGTR1 BMP6 COL1A2 COL3A1 COL5A2 DCN
3 mortality/aging MP:0010768 10.06 AGTR1 COL1A2 COL3A1 COL5A2 DCN FBN1
4 muscle MP:0005369 9.91 ACTA2 COL1A2 COL3A1 DCN FBN1 FBN2
5 respiratory system MP:0005388 9.81 COL3A1 COL5A2 DCN FBN1 FBN2 LTBP2
6 skeleton MP:0005390 9.61 BMP6 COL1A2 COL5A2 DCN FBN1 FBN2
7 vision/eye MP:0005391 9.17 ACTA2 COL5A2 DCN FBN2 LTBP2 MMP2

Drugs & Therapeutics for Marfan Syndrome

PubMedHealth treatment related to Marfan Syndrome: 63

Marfan syndrome has no cure. However, treatments can help delay or prevent complications, especially when started early.Marfan syndrome can affect many parts of your body, including your heart, bones and joints, eyes, nervous system, and lungs. The type of treatment you receive will depend on your signs and symptoms.

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

(show top 50) (show all 102)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atenolol Approved Phase 4,Phase 3,Phase 2 29122-68-7 2249
2
Verapamil Approved Phase 4 52-53-9 2520
3
Perindopril Approved Phase 4,Phase 3 107133-36-8, 82834-16-0 107807
4
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
5
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
6
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
7 Adrenergic beta-Antagonists Phase 4,Phase 3,Phase 2
8 Vasodilator Agents Phase 4,Phase 3,Phase 2
9 Antihypertensive Agents Phase 4,Phase 3,Phase 2
10 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Adrenergic Antagonists Phase 4,Phase 3,Phase 2
12 Adrenergic Agents Phase 4,Phase 3,Phase 2
13 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2
14 Sympatholytics Phase 4,Phase 3,Phase 2
15 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Adrenergic beta-1 Receptor Antagonists Phase 4,Phase 3,Phase 2
17 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3
19 Calcium, Dietary Phase 4,Phase 1,Phase 2
20 HIV Protease Inhibitors Phase 4,Phase 3
21
protease inhibitors Phase 4,Phase 3
22 calcium channel blockers Phase 4
23 Central Nervous System Stimulants Phase 4
24 Psychotropic Drugs Phase 4
25 Dopamine Agents Phase 4
26 Dopamine Antagonists Phase 4
27 Central Nervous System Depressants Phase 4,Phase 1,Phase 2
28 Antipsychotic Agents Phase 4
29 Serotonin Agents Phase 4
30 Serotonin Antagonists Phase 4
31 Neurotransmitter Uptake Inhibitors Phase 4
32 Dopamine Uptake Inhibitors Phase 4
33 Tranquilizing Agents Phase 4
34
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
35
Angiotensin II Approved, Investigational Phase 3,Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
36
Losartan Approved Phase 3,Phase 2 114798-26-4 3961
37
Nebivolol Approved, Investigational Phase 3 99200-09-6, 152520-56-4, 118457-14-0 71301
38 Angiotensin II Type 1 Receptor Blockers Phase 3,Phase 2
39 Angiotensinogen Phase 3,Phase 2
40 Angiotensin Receptor Antagonists Phase 3,Phase 2
41 Adrenergic beta-Agonists Phase 3
42 Mitogens Phase 3
43 Adrenergic Agonists Phase 3
44
Propranolol Approved, Investigational Phase 2 525-66-6 4946
45
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
46
Irbesartan Approved, Investigational Phase 2 138402-11-6 3749
47
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
48
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
49
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6, 75614-87-8 774
50
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741

Interventional clinical trials:

(show top 50) (show all 59)
# Name Status NCT ID Phase Drugs
1 Comparison of Medical Therapies in Marfan Syndrome. Completed NCT01295047 Phase 4 Atenolol;VERAPAMIL;Perindopril
2 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
3 Atenolol Versus Losartan in the Prevention of Progressive Dilation of the Aorta in Marfan Syndrome Unknown status NCT01145612 Phase 3 Losartan;Atenolol
4 Randomized, Double-blind Study for the Evaluation of the Effect of Losartan Versus Placebo on Aortic Root Dilatation in Patients With Marfan Syndrome Under Treatment With Beta-blockers Unknown status NCT00782327 Phase 3 Losartan;Placebo
5 Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan Patients Unknown status NCT00683124 Phase 3 Losartan and nebivolol;Losartan;Nebivolol
6 Angiotensin Converting Enzyme Inhibitors in Marfan Syndrome Completed NCT00485368 Phase 3 Coversyl (perindopril)
7 Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan Syndrome Terminated NCT00763893 Phase 3 placebo;Losartan
8 Comparison of Two Medications Aimed at Slowing Aortic Root Enlargement in Individuals With Marfan Syndrome--Pediatric Heart Network Completed NCT00429364 Phase 3 Losartan Potassium;Atenolol
9 Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
10 Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome Withdrawn NCT01361087 Phase 3
11 Comparison of Aliskiren vs Negative Controls on Aortic Stiffness in Patients With MFS Completed NCT01715207 Phase 3 Aliskiren;Atenolol
12 Artisan Aphakia Lens for the Correction of Aphakia in Children Recruiting NCT01547442 Phase 3
13 A Randomized, Open-label, LOSARTAN Therapy on the Progression of Aortic Root Dilation in Patients With Marfan Syndrome Unknown status NCT00651235 Phase 2 Losartan and Atenolol or Propranolol;Atenolol or Propranolol
14 The Oxford Marfan Trial Unknown status NCT01949233 Phase 2 Irbesartan 150-300mg capsules daily for 6 months;Doxycycline 100-200mg capsules daily for 6 months;Doxycycline placebo capsules daily for 6 months;Irbesartan placebo capsules daily for 6 months
15 Losartan Versus Atenolol for the Treatment of Marfan Syndrome Completed NCT00593710 Phase 2 Losartan;Atenolol
16 Clinical Study of the Efficacy and Safety of the Application of Allogeneic Mesenchymal (Stromal) Cells of Bone Marrow, Cultured Under the Hypoxia in the Treatment of Patients With Severe Pulmonary Emphysema Withdrawn NCT01849159 Phase 1, Phase 2
17 Safety Study of Bone Marrow Derived Stem Cells on Patients With Cutaneous Photoaging Suspended NCT01771679 Phase 1, Phase 2
18 Thymus Transplantation in DiGeorge Syndrome #668 Active, not recruiting NCT00576407 Phase 2
19 Phase I/II Thymus Transplantation With Immunosuppression #950 Active, not recruiting NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
20 Thymus Transplantation Dose in DiGeorge #932 Active, not recruiting NCT00576836 Phase 2
21 Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions Completed NCT02895906 Phase 1 NFC-1
22 Thymus Transplantation With Immunosuppression Active, not recruiting NCT00579709 Phase 1
23 Parathyroid and Thymus Transplantation in DiGeorge #931 Active, not recruiting NCT00566488 Phase 1
24 Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells Unknown status NCT02815072
25 Development of a Blood Test for Marfan Syndrome Unknown status NCT02148900
26 Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis Unknown status NCT00006393
27 Non-Invasive Chromosomal Evaluation of 22q11.2 Unknown status NCT02541058
28 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
29 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
30 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
31 Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome. Recruiting NCT03236571 Not Applicable
32 Clinical Variability in Marfan Syndrome Completed NCT01707563 Not Applicable
33 Children and Adolescents With Marfan Syndrome: 10,000 Healthy Steps and Beyond Recruiting NCT03567460 Not Applicable
34 Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome Completed NCT01760668
35 Glucose-dependent Asprosin Dynamics Completed NCT03358121
36 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
37 Tele-Clinic Visits in Pediatric Marfan Patients Using Parental Echo: The Future? Recruiting NCT03581682 Not Applicable
38 Thoracic Aortic Dilatation Syndromes Completed NCT02111668
39 Studies of Heritable Disorders of Connective Tissue Completed NCT00270686
40 Study of Heritable Connective Tissue Disorders Completed NCT00001641
41 Family Myopia Study Completed NCT00341549
42 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
43 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
44 Efficacy in Daily Use of a Novel Skin Care Product for the Treatment of Photoaged Skin Not yet recruiting NCT03144193 Not Applicable
45 Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging Recruiting NCT02538822 Not Applicable
46 Real-time 3-Dimensional Echocardiography for Assessment of Cardiac Function and Congenital Heart Disease Withdrawn NCT01300221
47 Social Cognition Training and Cognitive Remediation Recruiting NCT03284060 Not Applicable
48 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
49 Cognitive Remediation in 22q11DS Completed NCT01781923 Not Applicable
50 Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome Completed NCT00917189 Not Applicable

Search NIH Clinical Center for Marfan Syndrome

Cochrane evidence based reviews: marfan syndrome

Genetic Tests for Marfan Syndrome

Genetic tests related to Marfan Syndrome:

# Genetic test Affiliating Genes
1 Marfan Syndrome 29 FBN1

Anatomical Context for Marfan Syndrome

MalaCards organs/tissues related to Marfan Syndrome:

41
Heart, Bone, Eye, Lung, Spinal Cord, Testes, Skin

Publications for Marfan Syndrome

Articles related to Marfan Syndrome:

(show top 50) (show all 1451)
# Title Authors Year
1
A FBN1 3'UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome. ( 30385411 )
2019
2
Evidence of aortic dissection and Marfan syndrome in a mummy from the Capuchin Catacombs of Palermo, Sicily. ( 29890445 )
2018
3
Correction: Sex, pregnancy and aortic disease in Marfan syndrome. ( 29758081 )
2018
4
Developing a shared decision support framework for aortic root surgery in Marfan syndrome. ( 28780581 )
2018
5
Two rare missense mutations in the fibrillina891 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome. ( 29845260 )
2018
6
Bilateral Crystalline Lens Subluxation in a Child With Marfan Syndrome. ( 29902318 )
2018
7
Closure of a giant anterior sacral meningocele with an omental flap in a patient with Marfan syndrome: case report. ( 29799321 )
2018
8
The Effect of a Non-peptide Angiotensin II type 2 receptor Agonist, Compound 21, on Aortic Aneurysm Growth in a Mouse Model of Marfan Syndrome. ( 29300219 )
2018
9
A systemic review and meta-analysis: long-term results of the Bentall versus the David procedure in patients with Marfan syndrome. ( 29893811 )
2018
10
Pupillary manifestations of Marfan syndrome: from the Marfan eye consortium of Chicago. ( 29336629 )
2018
11
Impact of Pathogenic <i>FBN1</i> Variant Types on the Progression of Aortic Disease in Patients With Marfan Syndrome. ( 29848614 )
2018
12
Aortic repair in Marfan syndrome: Let's not forget the arch when talking about the root. ( 29921099 )
2018
13
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome. ( 29357934 )
2018
14
Prenatal care and labor in patients with MESENCHIMAL dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia). ( 29938556 )
2018
15
Marfan syndrome presenting with diffuse emphysematous change of the lung. ( 29431101 )
2018
16
Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome. ( 29850472 )
2018
17
Laparoscopic repair of a complex Morgagni hernia in a patient with Marfan syndrome. ( 29316125 )
2018
18
Corneal Curvature, Astigmatism, and Aberrations in Marfan Syndrome with Lens Subluxation: Evaluation by Pentacam HR System. ( 29511238 )
2018
19
Total arch replacement and frozen elephant trunk for type A aortic dissection after Bentall procedure in Marfan syndrome. ( 29850143 )
2018
20
Inhibition of Marfan Syndrome Aortic Root Dilation by Losartan: Role of Angiotensin II Receptor Type 1-Independent Activation of Endothelial Function. ( 29433732 )
2018
21
Looking for the Missing Links: Challenges in the Search for Genotype-Phenotype Correlation in Marfan Syndrome. ( 29848616 )
2018
22
Angiotensin, transforming growth factor I^ and aortic dilatation in Marfan syndrome: Of mice and humans. ( 29876507 )
2018
23
Age Differences in Axial Length, Corneal Curvature, and Corneal Astigmatism in Marfan Syndrome with Ectopia Lentis. ( 29854424 )
2018
24
Utility of serial 12-lead electrocardiograms in children with Marfan syndrome. ( 29972109 )
2018
25
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the <i>FBN1</i> Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline. ( 29875124 )
2018
26
Superficial Siderosis and Dural Ectasia in aA Patient with Marfan Syndrome. ( 29468260 )
2018
27
Aortic Root Dilation: Do Patients With Marfan Syndrome Fare Worse Than Those With Marfanoid Features? ( 29307552 )
2018
28
Reply to &amp;quot;Aortic repair in Marfan Syndrome: Let's not forget the arch when talking about the root&amp;quot;. ( 29921100 )
2018
29
Stent-assisted, balloon-induced intimal disruption and relamination of aortic dissection in patients with Marfan syndrome: Midterm outcomes and aortic remodeling. ( 29934004 )
2018
30
Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome. ( 29948025 )
2018
31
Small Bowel Diverticulosis and Jejunal Perforation in Marfan Syndrome. ( 29392152 )
2018
32
Rupture of an Abdominal Aortic Aneurysm in a Young Man with Marfan Syndrome. ( 29421423 )
2018
33
Minimally Invasive Mitral Valve Repair in a Woman with Marfan Syndrome and Type B Dissection. ( 29430431 )
2018
34
Hybrid repair of multiple subclavian and axillary artery aneurysms in a patient with Marfan syndrome. ( 29937032 )
2018
35
Anterior spinal artery syndrome from type A aortic dissection in a patient with Marfan syndrome due to a novel fibrillin mutation. ( 29992200 )
2018
36
Marfan syndrome combined with huge abdominal aortic aneurysm size of 20 × 11 cm: A case report of surgical approach. ( 30212924 )
2018
37
Precise Therapy for Thoracic Aortic Aneurysm in Marfan Syndrome: A Puzzle Nearing Its Solution. ( 30041021 )
2018
38
Influence of Aortic Dilation on the Regional Aortic Stiffness of Bicuspid Aortic Valve Assessed by 4-Dimensional Flow Cardiac Magnetic Resonance: Comparison With Marfan Syndrome and Degenerative Aortic Aneurysm. ( 29778849 )
2018
39
Ruptured abdominal aortic aneurysm repair in pediatric Marfan syndrome patient. ( 29541693 )
2018
40
Personal resources and satisfaction with life in Marfan syndrome patients with aortic pathology and in abdominal aortic aneurysm patients. ( 29681958 )
2018
41
Redox stress in Marfan syndrome: Dissecting the role of the NADPH oxidase NOX4 in aortic aneurysm. ( 29471108 )
2018
42
Participation of Arachidonic Acid Metabolism in the Aortic Aneurysm Formation in Patients with Marfan Syndrome. ( 29483877 )
2018
43
Response by Takeda et al to Letter Regarding Article, "Impact of Pathogenic FBN1 Variant Types on the Progression of Aortic Disease in Patients With Marfan Syndrome". ( 30354332 )
2018
44
Letter by Groth et al Regarding Article, "Impact of Pathogenic FBN1 (Fibrillin-1) Variant Types on the Progression of Aortic Disease in Patients With Marfan Syndrome". ( 30354333 )
2018
45
Results of staged repair of aortic disease in patients with Marfan syndrome: Can we dramatically reduce the number of staged repairs? ( 30482531 )
2018
46
Medical management of aortic disease in children with Marfan syndrome. ( 30036202 )
2018
47
Increased Prevalence of Cerebrovascular Disease in Hospitalized Patients with Marfan Syndrome. ( 29030048 )
2018
48
Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome. ( 30151001 )
2018
49
Aortic Surgery Outcomes of Marfan Syndrome and Ehlers-Danlos Syndrome Patients at Teaching and Nonteaching Hospitals. ( 30287287 )
2018
50
Embolic stroke, left atrial myxoma and gigantism in a patient with Carney complex with additional features suggestive of Marfan syndrome. ( 30077980 )
2018

Variations for Marfan Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Marfan Syndrome:

75 (show top 50) (show all 320)
# Symbol AA change Variation ID SNP ID
1 FBN1 p.Cys111Arg VAR_002276
2 FBN1 p.Arg122Cys VAR_002277 rs137854467
3 FBN1 p.Cys129Tyr VAR_002278
4 FBN1 p.Cys166Phe VAR_002279
5 FBN1 p.Cys166Ser VAR_002280
6 FBN1 p.Trp217Gly VAR_002281
7 FBN1 p.Cys476Gly VAR_002282
8 FBN1 p.Asp490Tyr VAR_002283
9 FBN1 p.Arg545Cys VAR_002284
10 FBN1 p.Asn548Ile VAR_002285 rs137854462
11 FBN1 p.Cys587Tyr VAR_002286
12 FBN1 p.Arg627Cys VAR_002287
13 FBN1 p.Cys661Arg VAR_002288
14 FBN1 p.Ala705Thr VAR_002289
15 FBN1 p.Cys711Tyr VAR_002290
16 FBN1 p.Asp723Ala VAR_002291 rs137854463
17 FBN1 p.Tyr746Cys VAR_002292
18 FBN1 p.Cys750Gly VAR_002293
19 FBN1 p.Cys862Arg VAR_002294
20 FBN1 p.Cys926Arg VAR_002295
21 FBN1 p.Val984Ile VAR_002296
22 FBN1 p.Cys996Arg VAR_002297 rs140592
23 FBN1 p.Gly1013Arg VAR_002298 rs140593
24 FBN1 p.Lys1023Asn VAR_002299
25 FBN1 p.Lys1043Arg VAR_002300 rs137854472
26 FBN1 p.Ile1048Thr VAR_002301
27 FBN1 p.Cys1053Arg VAR_002303
28 FBN1 p.Cys1055Gly VAR_002304
29 FBN1 p.Asp1072Gly VAR_002306
30 FBN1 p.Glu1073Lys VAR_002307 rs137854478
31 FBN1 p.Cys1074Arg VAR_002308 rs137854465
32 FBN1 p.Cys1086Trp VAR_002309
33 FBN1 p.Cys1117Gly VAR_002310
34 FBN1 p.Cys1117Tyr VAR_002311 rs137854470
35 FBN1 p.Gly1127Ser VAR_002312 rs137854468
36 FBN1 p.Arg1137Pro VAR_002314 rs137854456
37 FBN1 p.Cys1153Tyr VAR_002316 rs140599
38 FBN1 p.Asp1155Asn VAR_002317
39 FBN1 p.Arg1170His VAR_002318 rs137854475
40 FBN1 p.Cys1171Trp VAR_002319
41 FBN1 p.Asn1173Lys VAR_002320
42 FBN1 p.Cys1223Tyr VAR_002321 rs137854469
43 FBN1 p.Cys1242Tyr VAR_002322 rs137854471
44 FBN1 p.Cys1249Ser VAR_002323 rs137854458
45 FBN1 p.Asn1382Ser VAR_002324
46 FBN1 p.Asp1404Tyr VAR_002325
47 FBN1 p.Cys1513Arg VAR_002326
48 FBN1 p.Cys1589Phe VAR_002327
49 FBN1 p.Cys1610Gly VAR_002328
50 FBN1 p.Cys1663Arg VAR_002329 rs137854459

ClinVar genetic disease variations for Marfan Syndrome:

6 (show top 50) (show all 3769)
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR2 NM_003242.5(TGFBR2): c.944C> T (p.Thr315Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34833812 GRCh37 Chromosome 3, 30713619: 30713619
2 TGFBR2 NM_003242.5(TGFBR2): c.944C> T (p.Thr315Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34833812 GRCh38 Chromosome 3, 30672127: 30672127
3 FBN1 NM_000138.4(FBN1): c.6920G> C (p.Cys2307Ser) single nucleotide variant Pathogenic rs137854457 GRCh37 Chromosome 15, 48720620: 48720620
4 FBN1 NM_000138.4(FBN1): c.6920G> C (p.Cys2307Ser) single nucleotide variant Pathogenic rs137854457 GRCh38 Chromosome 15, 48428423: 48428423
5 FBN1 NM_000138.4: c.7455_7821del deletion Pathogenic
6 FBN1 NM_000138.4(FBN1): c.8268G> A (p.Trp2756Ter) single nucleotide variant Pathogenic rs267606796 GRCh37 Chromosome 15, 48703535: 48703535
7 FBN1 NM_000138.4(FBN1): c.8268G> A (p.Trp2756Ter) single nucleotide variant Pathogenic rs267606796 GRCh38 Chromosome 15, 48411338: 48411338
8 FBN1 NM_000138.4(FBN1): c.3746G> C (p.Cys1249Ser) single nucleotide variant Pathogenic rs137854458 GRCh37 Chromosome 15, 48776107: 48776107
9 FBN1 NM_000138.4(FBN1): c.3746G> C (p.Cys1249Ser) single nucleotide variant Pathogenic rs137854458 GRCh38 Chromosome 15, 48483910: 48483910
10 FBN1 NM_000138.4(FBN1): c.4987T> C (p.Cys1663Arg) single nucleotide variant Pathogenic rs137854459 GRCh37 Chromosome 15, 48756174: 48756174
11 FBN1 NM_000138.4(FBN1): c.4987T> C (p.Cys1663Arg) single nucleotide variant Pathogenic rs137854459 GRCh38 Chromosome 15, 48463977: 48463977
12 FBN1 NM_000138.4(FBN1): c.6662G> C (p.Cys2221Ser) single nucleotide variant Pathogenic rs137854460 GRCh37 Chromosome 15, 48725140: 48725140
13 FBN1 NM_000138.4(FBN1): c.6662G> C (p.Cys2221Ser) single nucleotide variant Pathogenic rs137854460 GRCh38 Chromosome 15, 48432943: 48432943
14 FBN1 NM_000138.4(FBN1): c.3350G> A (p.Cys1117Tyr) single nucleotide variant Pathogenic rs137854470 GRCh37 Chromosome 15, 48779622: 48779622
15 FBN1 NM_000138.4(FBN1): c.3350G> A (p.Cys1117Tyr) single nucleotide variant Pathogenic rs137854470 GRCh38 Chromosome 15, 48487425: 48487425
16 FBN1 NM_000138.4(FBN1): c.3725G> A (p.Cys1242Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137854471 GRCh37 Chromosome 15, 48776128: 48776128
17 FBN1 NM_000138.4(FBN1): c.3725G> A (p.Cys1242Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137854471 GRCh38 Chromosome 15, 48483931: 48483931
18 FBN1 NM_000138.4(FBN1): c.6339T> G (p.Tyr2113Ter) single nucleotide variant Pathogenic rs267606797 GRCh37 Chromosome 15, 48729559: 48729559
19 FBN1 NM_000138.4(FBN1): c.6339T> G (p.Tyr2113Ter) single nucleotide variant Pathogenic rs267606797 GRCh38 Chromosome 15, 48437362: 48437362
20 FBN1 NM_000138.4(FBN1): c.6431A> G (p.Asn2144Ser) single nucleotide variant Pathogenic rs137854461 GRCh37 Chromosome 15, 48729223: 48729223
21 FBN1 NM_000138.4(FBN1): c.6431A> G (p.Asn2144Ser) single nucleotide variant Pathogenic rs137854461 GRCh38 Chromosome 15, 48437026: 48437026
22 FBN1 NM_000138.4(FBN1): c.1643A> T (p.Asn548Ile) single nucleotide variant Pathogenic rs137854462 GRCh37 Chromosome 15, 48802312: 48802312
23 FBN1 NM_000138.4(FBN1): c.1643A> T (p.Asn548Ile) single nucleotide variant Pathogenic rs137854462 GRCh38 Chromosome 15, 48510115: 48510115
24 FBN1 NM_000138.4(FBN1): c.2168A> C (p.Asp723Ala) single nucleotide variant Pathogenic rs137854463 GRCh37 Chromosome 15, 48789588: 48789588
25 FBN1 NM_000138.4(FBN1): c.2168A> C (p.Asp723Ala) single nucleotide variant Pathogenic rs137854463 GRCh38 Chromosome 15, 48497391: 48497391
26 FBN1 NM_000138.4(FBN1): c.6739+1G> C single nucleotide variant Pathogenic rs869025419 GRCh38 Chromosome 15, 48432865: 48432865
27 FBN1 NM_000138.4(FBN1): c.6739+1G> C single nucleotide variant Pathogenic rs869025419 GRCh37 Chromosome 15, 48725062: 48725062
28 FBN1 NM_000138.4(FBN1): c.7339G> A (p.Glu2447Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137854464 GRCh37 Chromosome 15, 48717680: 48717680
29 FBN1 NM_000138.4(FBN1): c.7339G> A (p.Glu2447Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137854464 GRCh38 Chromosome 15, 48425483: 48425483
30 FBN1 NM_000138.4(FBN1): c.8326C> T (p.Arg2776Ter) single nucleotide variant Pathogenic rs137854466 GRCh37 Chromosome 15, 48703477: 48703477
31 FBN1 NM_000138.4(FBN1): c.8326C> T (p.Arg2776Ter) single nucleotide variant Pathogenic rs137854466 GRCh38 Chromosome 15, 48411280: 48411280
32 FBN1 NM_000138.4(FBN1): c.364C> T (p.Arg122Cys) single nucleotide variant Pathogenic rs137854467 GRCh37 Chromosome 15, 48892414: 48892414
33 FBN1 NM_000138.4(FBN1): c.364C> T (p.Arg122Cys) single nucleotide variant Pathogenic rs137854467 GRCh38 Chromosome 15, 48600217: 48600217
34 FBN1 NM_000138.4(FBN1): c.4087+1G> A single nucleotide variant Pathogenic rs387906548 GRCh37 Chromosome 15, 48766724: 48766724
35 FBN1 NM_000138.4(FBN1): c.4087+1G> A single nucleotide variant Pathogenic rs387906548 GRCh38 Chromosome 15, 48474527: 48474527
36 FBN1 NM_000138.4(FBN1): c.3379G> A (p.Gly1127Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs137854468 GRCh37 Chromosome 15, 48779593: 48779593
37 FBN1 NM_000138.4(FBN1): c.3379G> A (p.Gly1127Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs137854468 GRCh38 Chromosome 15, 48487396: 48487396
38 FBN1 NM_000138.4(FBN1): c.3668G> A (p.Cys1223Tyr) single nucleotide variant Pathogenic rs137854469 GRCh37 Chromosome 15, 48777615: 48777615
39 FBN1 NM_000138.4(FBN1): c.3668G> A (p.Cys1223Tyr) single nucleotide variant Pathogenic rs137854469 GRCh38 Chromosome 15, 48485418: 48485418
40 FBN1 NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746008 GRCh37 Chromosome 15, 48704816: 48704816
41 FBN1 NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746008 GRCh38 Chromosome 15, 48412619: 48412619
42 FBN1 NM_000138.4(FBN1): c.3192delA (p.Glu1065Lysfs) deletion Pathogenic rs1131692050 GRCh37 Chromosome 15, 48780581: 48780581
43 FBN1 NM_000138.4(FBN1): c.3192delA (p.Glu1065Lysfs) deletion Pathogenic rs1131692050 GRCh38 Chromosome 15, 48488384: 48488384
44 FBN1 NM_000138.4(FBN1): c.6354C> T (p.Ile2118=) single nucleotide variant Pathogenic/Likely pathogenic rs112989722 GRCh37 Chromosome 15, 48729544: 48729544
45 FBN1 NM_000138.4(FBN1): c.6354C> T (p.Ile2118=) single nucleotide variant Pathogenic/Likely pathogenic rs112989722 GRCh38 Chromosome 15, 48437347: 48437347
46 FBN1 NM_000138.4(FBN1): c.3793T> C (p.Cys1265Arg) single nucleotide variant Pathogenic rs137854474 GRCh37 Chromosome 15, 48776060: 48776060
47 FBN1 NM_000138.4(FBN1): c.3793T> C (p.Cys1265Arg) single nucleotide variant Pathogenic rs137854474 GRCh38 Chromosome 15, 48483863: 48483863
48 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh37 Chromosome 15, 48779352: 48779352
49 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh38 Chromosome 15, 48487155: 48487155
50 FBN1 NM_000138.4(FBN1): c.1585C> T (p.Arg529Ter) single nucleotide variant Pathogenic rs137854476 GRCh37 Chromosome 15, 48805749: 48805749

Copy number variations for Marfan Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 92862 15 44800000 49500000 Deletion FBN1 Marfan syndrome

Expression for Marfan Syndrome

Search GEO for disease gene expression data for Marfan Syndrome.

Pathways for Marfan Syndrome

Pathways related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 ACTA2 BMP6 COL1A2 COL3A1 COL5A2 ELN
2
Show member pathways
13.24 ACTA2 COL1A2 COL3A1 COL5A2 ELN FBN1
3
Show member pathways
12.89 ACTA2 COL1A2 COL3A1 MMP2 TGFBR1 TGFBR2
4
Show member pathways
12.75 ACTA2 BMP6 COL1A2 COL3A1 COL5A2 ELN
5
Show member pathways
12.26 COL1A2 COL3A1 COL5A2 DCN ELN FBN1
6
Show member pathways
12.07 ACTA2 COL1A2 COL3A1 COL5A2 ELN FBN1
7 12.02 MMP2 TGFBR1 TGFBR2
8 11.97 BMP6 TGFBR1 TGFBR2
9
Show member pathways
11.95 MMP2 TGFBR1 TGFBR2
10 11.94 ACTA2 BMP6 MMP2 TGFBR1 TGFBR2
11 11.9 ACTA2 AGTR1 TGFBR1
12
Show member pathways
11.89 BMP6 LTBP2 TGFBR1 TGFBR2
13 11.88 COL1A2 TGFBR1 TGFBR2
14 11.74 BMP6 DCN TGFBR1 TGFBR2
15 11.73 AGTR1 COL1A2 COL3A1 MMP2 TGFBR1 TGFBR2
16
Show member pathways
11.66 ELN FBN1 FBN2 LTBP2
17 11.56 ACTA2 BMP6 MMP2 TGFBR1 TGFBR2
18 11.52 COL1A2 COL3A1 MMP2
19
Show member pathways
11.43 MMP2 TGFBR1 TGFBR2
20 11.35 COL1A2 COL3A1 COL5A2
21 11.23 COL1A2 DCN MMP2
22
Show member pathways
11.06 TGFBR1 TGFBR2
23 11.03 TGFBR1 TGFBR2
24 10.92 TGFBR1 TGFBR2
25 10.83 BMP6 COL1A2 COL3A1 COL5A2 ELN FBN1
26 10.5 AGTR1 FBN1 FBN2 LTBP2 TGFBR1 TGFBR2

GO Terms for Marfan Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.91 ACTA2 BMP6 COL1A2 COL3A1 COL5A2 DCN
2 extracellular region GO:0005576 9.85 BMP6 COL1A2 COL3A1 COL5A2 DCN ELN
3 endoplasmic reticulum lumen GO:0005788 9.73 COL1A2 COL3A1 COL5A2 FBN1
4 extracellular matrix GO:0031012 9.61 COL1A2 COL3A1 COL5A2 DCN ELN FBN1
5 collagen trimer GO:0005581 9.58 COL1A2 COL3A1 COL5A2
6 microfibril GO:0001527 9.37 FBN1 FBN2
7 transforming growth factor beta receptor complex GO:0070022 9.32 TGFBR1 TGFBR2
8 collagen-containing extracellular matrix GO:0062023 9.28 COL1A2 COL3A1 COL5A2 DCN ELN FBN1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.81 COL3A1 FBN1 TGFBR1 TGFBR2
2 animal organ morphogenesis GO:0009887 9.76 DCN ELN TGFBR2
3 wound healing GO:0042060 9.71 COL3A1 DCN TGFBR1 TGFBR2
4 response to mechanical stimulus GO:0009612 9.67 COL3A1 DCN TGFBR2
5 cellular response to amino acid stimulus GO:0071230 9.67 COL1A2 COL3A1 COL5A2 MMP2
6 blood vessel development GO:0001568 9.65 COL1A2 COL3A1 TGFBR2
7 kidney development GO:0001822 9.65 AGTR1 BMP6 DCN FBN1 TGFBR1
8 collagen fibril organization GO:0030199 9.62 COL1A2 COL3A1 COL5A2 TGFBR1
9 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.59 TGFBR1 TGFBR2
10 pathway-restricted SMAD protein phosphorylation GO:0060389 9.58 TGFBR1 TGFBR2
11 supramolecular fiber organization GO:0097435 9.57 COL3A1 LTBP2
12 positive regulation of SMAD protein signal transduction GO:0060391 9.56 BMP6 TGFBR1
13 response to cholesterol GO:0070723 9.55 TGFBR1 TGFBR2
14 transforming growth factor beta receptor signaling pathway GO:0007179 9.55 COL1A2 COL3A1 LTBP2 TGFBR1 TGFBR2
15 embryonic eye morphogenesis GO:0048048 9.54 FBN1 FBN2
16 bone trabecula formation GO:0060346 9.52 FBN2 MMP2
17 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.46 TGFBR1 TGFBR2
18 sequestering of TGFbeta in extracellular matrix GO:0035583 9.43 FBN1 FBN2
19 skeletal system development GO:0001501 9.43 BMP6 COL1A2 COL3A1 COL5A2 FBN1 TGFBR1
20 extracellular matrix organization GO:0030198 9.17 COL1A2 COL3A1 COL5A2 DCN ELN FBN1

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

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 9.5 LTBP2 TGFBR1 TGFBR2
2 glycosaminoglycan binding GO:0005539 9.48 DCN TGFBR2
3 transforming growth factor beta binding GO:0050431 9.46 TGFBR1 TGFBR2
4 transforming growth factor beta-activated receptor activity GO:0005024 9.43 TGFBR1 TGFBR2
5 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.43 COL1A2 COL3A1 COL5A2
6 platelet-derived growth factor binding GO:0048407 9.4 COL1A2 COL3A1
7 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.37 TGFBR1 TGFBR2
8 SMAD binding GO:0046332 9.35 COL1A2 COL3A1 COL5A2 TGFBR1 TGFBR2
9 extracellular matrix constituent conferring elasticity GO:0030023 9.33 ELN FBN1 FBN2
10 extracellular matrix structural constituent GO:0005201 9.17 COL1A2 COL3A1 COL5A2 ELN FBN1 FBN2

Sources for Marfan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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