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 56 12 74 24 52 25 58 73 36 29 13 54 6 42 43 15 37 62 71 32
Mfs 56 25 58 73
Mfs1 56 58 73
Marfan Syndrome Type 1 58 73
Marfan's Syndrome 12 25
Marfanoid Hypermobility Syndrome 71
Marfan Syndrome, Type I; Mfs1 56
Contractural Arachnodactyly 52
Marfan Syndrome, Type I 56
Syndrome, Marfan 39

Characteristics:

Orphanet epidemiological data:

58
marfan syndrome
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: any age;
marfan syndrome type 1
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
about 25% of cases due to new mutations


HPO:

31
marfan syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:

Orphanet: 58  
Rare eye diseases
Rare circulatory system diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Marfan Syndrome

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. Because connective tissue is found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). The aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening. Many people with Marfan syndrome have additional heart problems including a leak in the valve that connects two of the four chambers of the heart (mitral valve prolapse) or the valve that regulates blood flow from the heart into the aorta (aortic valve regurgitation). Leaks in these valves can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations). Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes (arachnodactyly), loose joints, and have an arm span that exceeds their body height. Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine (scoliosis or kyphosis), stretch marks (striae) not related to weight gain or loss, and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax). A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head. Most individuals with Marfan syndrome have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition. The features of Marfan syndrome can become apparent anytime between infancy and adulthood. Depending on the onset and severity of signs and symptoms, Marfan syndrome can be fatal early in life; however, with proper treatment, many affected individuals have normal lifespans.

MalaCards based summary : Marfan Syndrome, also known as mfs, is related to neonatal marfan syndrome and ectopia lentis 1, isolated, autosomal dominant. 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 Perindopril and Verapamil have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related phenotypes are pectus carinatum and pes planus

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.

NIH Rare Diseases : 52 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 : 56 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)

MedlinePlus : 42 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

KEGG : 36 Marfan syndrome (MFS) is a relatively common autosomal dominant disorder of connective tissue. It affects many parts of the body involving the skeletal, ocular, and cardiovascular systems. Cardiac manifestations are significant contributors to morbidity and mortality. MFS is caused by mutations in the gene for fibrillin-1.

UniProtKB/Swiss-Prot : 73 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 : 62 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 : 74 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 721)
# Related Disease Score Top Affiliating Genes
1 neonatal marfan syndrome 34.8 FBN1 DCN
2 ectopia lentis 1, isolated, autosomal dominant 33.1 TGFBR2 FBN1
3 pectus carinatum 33.1 FBN1 COL5A2
4 isolated ectopia lentis 33.1 LTBP2 FBN3 FBN2 FBN1 CBS
5 ectopia lentis 2, isolated, autosomal recessive 32.6 TGFBR2 FBN1
6 familial thoracic aortic aneurysm and dissection 32.4 TGFBR2 TGFBR1 MYH11 LOX FBN1 ELN
7 loeys-dietz syndrome 32.3 TGFBR2 TGFBR1 MYH11 FBN2 FBN1 ELN
8 connective tissue disease 32.0 TGFBR2 LOX FBN2 FBN1 ELN COL5A1
9 aortic aneurysm, familial thoracic 1 31.8 TGFBR2 TGFBR1 MYH11 MMP2 LOX FBN2
10 orthostatic intolerance 31.7 TGFBR2 TGFBR1 PKD1 FBN2 FBN1 ELN
11 pneumothorax 31.6 MMP2 FBN1 ELN
12 aortic valve insufficiency 31.6 TGFBR2 TGFBR1 MYH11 FBN1 ELN ACTA2
13 aortic aneurysm, familial abdominal, 1 31.4 MMP2 FBN1 ELN DCN
14 tricuspid valve prolapse 31.2 TGFBR2 TGFBR1 FBN1 COL3A1
15 aneurysm 31.1 TGFBR2 TGFBR1 MYH11 LOX FBN2 FBN1
16 subclavian artery aneurysm 31.1 TGFBR2 FBN1
17 pulmonary emphysema 31.0 MMP2 LOX ELN
18 mitral valve disease 31.0 FBN1 ELN AGTR1
19 nontuberculous mycobacterial lung disease 31.0 FBN1 BMP6
20 stiff skin syndrome 31.0 FBN1 COL1A2
21 aortic aneurysm 30.9 TGFBR2 TGFBR1 MYH11 MMP2 LOX FBN2
22 marden-walker syndrome 30.9 FBN2 FBN1
23 loeys-dietz syndrome 4 30.9 TGFBR2 TGFBR1 FBN1
24 aortic disease 30.9 TGFBR2 TGFBR1 MYH11 MMP2 LOX FBN1
25 cerebral aneurysms 30.9 MMP2 ELN
26 scoliosis 30.9 TGFBR2 LOX FBN3 FBN2 FBN1 ELN
27 weill-marchesani syndrome 30.8 LTBP2 FBN3 FBN2 FBN1
28 loeys-dietz syndrome 5 30.8 TGFBR2 TGFBR1 FBN1
29 autosomal recessive cutis laxa type i 30.8 FBN1 ELN
30 scleroderma, familial progressive 30.7 FBN1 COL1A2 BMP6
31 ehlers-danlos syndrome 30.7 TGFBR1 MYH11 FBN1 ELN DCN COL5A2
32 stickler syndrome 30.7 FBN1 COL5A2 COL1A2
33 loeys-dietz syndrome 1 30.7 TGFBR2 TGFBR1 MYH11 FBN1 ACTA2
34 homocysteinemia 30.6 FBN1 ELN CBS
35 ehlers-danlos syndrome, vascular type 30.6 ELN COL3A1
36 telangiectasis 30.6 TGFBR1 FBN1 ELN BMP6
37 pseudoxanthoma elasticum 30.6 MYH11 MMP2 FBN1 ELN DCN
38 supravalvular aortic stenosis 30.6 MMP2 FBN1 ELN
39 hereditary hemorrhagic telangiectasia 30.5 TGFBR2 TGFBR1 COL5A1 BMP6
40 pulmonary hypertension 30.5 TGFBR2 TGFBR1 BMP6 AGTR1 ACTA2
41 arteriovenous malformation 30.4 TGFBR2 TGFBR1 MMP2
42 progeroid syndrome 30.4 FBN1 DCN
43 patent ductus arteriosus 1 30.4 TGFBR2 TGFBR1 MYH11 FBN1 ELN ACTA2
44 loeys-dietz syndrome 3 30.4 TGFBR2 TGFBR1 MYH11 FBN1 ACTA2
45 keratoconus 30.4 MMP2 LOX FBN1 ELN COL5A1
46 varicose veins 30.4 MMP2 FBN1 ELN COL3A1
47 cutis laxa 30.4 MMP2 LOX FBN1 ELN COL5A1
48 brittle bone disorder 30.3 FBN1 ELN DCN COL5A2 COL5A1 COL3A1
49 hypermobility syndrome 30.3 COL5A2 COL5A1 COL3A1
50 collagen disease 30.3 TGFBR1 FBN1 ELN COL5A2 COL5A1 COL3A1

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

Human phenotypes related to Marfan Syndrome:

58 31 (show top 50) (show all 89)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus carinatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000768
2 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
3 striae distensae 58 31 hallmark (90%) Very frequent (99-80%) HP:0001065
4 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
5 disproportionate tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0001519
6 slender build 58 31 hallmark (90%) Very frequent (99-80%) HP:0001533
7 spontaneous pneumothorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0002108
8 chronic fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012432
9 ascending tubular aorta aneurysm 31 hallmark (90%) HP:0004970
10 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
11 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
12 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
13 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
14 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
15 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
16 mitral valve prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0001634
17 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
18 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
19 lens subluxation 58 31 frequent (33%) Frequent (79-30%) HP:0001132
20 joint hypermobility 58 31 frequent (33%) Frequent (79-30%) HP:0001382
21 protrusio acetabuli 58 31 very rare (1%) Frequent (79-30%) HP:0003179
22 arthralgia/arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0005059
23 increased axial length of the globe 58 31 frequent (33%) Frequent (79-30%) HP:0007800
24 lens luxation 58 31 frequent (33%) Frequent (79-30%) HP:0012019
25 dural ectasia 58 31 frequent (33%) Frequent (79-30%) HP:0100775
26 abnormality of malar bones 31 frequent (33%) HP:0012369
27 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
28 osteopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000938
29 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
30 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
31 open bite 58 31 occasional (7.5%) Occasional (29-5%) HP:0010807
32 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
33 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
34 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
35 emphysema 58 31 occasional (7.5%) Occasional (29-5%) HP:0002097
36 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
37 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
38 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
39 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
40 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
41 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
42 cachexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004326
43 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
44 arterial dissection 58 31 occasional (7.5%) Occasional (29-5%) HP:0005294
45 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
46 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
47 hemoptysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002105
48 meningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002435
49 limited elbow movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0002996
50 spondylolisthesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003302

Symptoms via clinical synopsis from OMIM:

56
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum
pectus asymmetric sternum

Head And Neck Mouth:
narrow palate
high-arched palate

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

Head And Neck Head:
dolichocephaly

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
kyphoscoliosis
spondylolisthesis
thoracic lordosis
lumbosacral dural ectasia

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

Muscle Soft Tissue:
decreased muscle mass
decreased subcutaneous fat

Cardiovascular Heart:
congestive heart failure
mitral valve prolapse
mitral regurgitation
tricuspid valve prolapse
aortic regurgitation
more
Head And Neck Eyes:
myopia
retinal detachment
ectopia lentis
downslanting palpebral fissures
iris hypoplasia
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

MGI Mouse Phenotypes related to Marfan Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.28 ACTA2 AGTR1 COL1A2 COL3A1 COL5A1 COL5A2
2 growth/size/body region MP:0005378 10.21 AGTR1 BMP6 COL1A2 COL3A1 COL5A1 COL5A2
3 mortality/aging MP:0010768 10.13 AGTR1 COL1A2 COL3A1 COL5A1 COL5A2 DCN
4 integument MP:0010771 10.06 COL1A2 COL3A1 COL5A1 COL5A2 DCN FBN1
5 muscle MP:0005369 9.93 ACTA2 COL1A2 COL3A1 DCN FBN1 FBN2
6 respiratory system MP:0005388 9.73 COL3A1 COL5A2 DCN FBN1 FBN2 LOX
7 skeleton MP:0005390 9.36 BMP6 COL1A2 COL5A2 DCN FBN1 FBN2

Drugs & Therapeutics for Marfan Syndrome

PubMed Health treatment related to Marfan Syndrome: 62

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 104)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
2
Verapamil Approved Phase 4 52-53-9 2520
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
5
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
6
protease inhibitors Phase 4
7 HIV Protease Inhibitors Phase 4
8 Angiotensin-Converting Enzyme Inhibitors Phase 4
9 Vasodilator Agents Phase 4
10 calcium channel blockers Phase 4
11 Antipsychotic Agents Phase 4
12 Central Nervous System Depressants Phase 4
13 Tranquilizing Agents Phase 4
14 Dopamine Agents Phase 4
15 Central Nervous System Stimulants Phase 4
16 Dopamine Antagonists Phase 4
17 Dopamine Uptake Inhibitors Phase 4
18 Serotonin Agents Phase 4
19 Psychotropic Drugs Phase 4
20 Serotonin Antagonists Phase 4
21
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
22
Nebivolol Approved, Investigational Phase 3 152520-56-4, 118457-14-0, 99200-09-6 71301
23
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198
24
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
25 Adrenergic beta-Agonists Phase 3
26 Adrenergic Agonists Phase 3
27 Antihypertensive Agents Phase 3
28 Anti-Arrhythmia Agents Phase 3
29 Adrenergic Antagonists Phase 3
30 Neurotransmitter Agents Phase 3
31 Adrenergic beta-1 Receptor Antagonists Phase 3
32 Adrenergic beta-Antagonists Phase 3
33 Angiotensin II Type 1 Receptor Blockers Phase 3
34 Giapreza Phase 3
35 Angiotensin Receptor Antagonists Phase 3
36 Autonomic Agents Phase 3
37 Sympatholytics Phase 3
38 Angiotensinogen Phase 3
39 Adrenergic Agents Phase 3
40
Propranolol Approved, Investigational Phase 2 525-66-6 4946
41
Irbesartan Approved, Investigational Phase 2 138402-11-6 3749
42
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
43
Parathyroid hormone Approved, Investigational Phase 1, Phase 2 9002-64-6
44
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
45
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
46
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
47
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
48
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
49 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
50
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0

Interventional clinical trials:

(show top 50) (show all 65)
# Name Status NCT ID Phase Drugs
1 Effects of Atenolol, Perindopril and Verapamil on Haemodynamic and Vascular Function in Marfan Syndrome - A Randomised Double-Blind Crossover Trial Completed NCT01295047 Phase 4 Atenolol;VERAPAMIL;Perindopril
2 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
3 A Clinical Trial to Assess the Efficacy and Safety of Losartan Versus Atenolol in the Prevention of Progressive Dilation of the Aorta in Patients With 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 Effects of Losartan vs. Nebivolol vs. the Association of Both on the Progression of Aortic Root Dilation in Marfan Syndrome (MFS) With FBN1 Gene Mutations. Unknown status NCT00683124 Phase 3 Losartan and nebivolol;Losartan;Nebivolol
6 The Effect of an Angiotensin Converting Enzyme Inhibitor on Aortic Wall Properties in Patients With Marfan Syndrome. Completed NCT00485368 Phase 3 Coversyl (perindopril)
7 Effects of Losartan vs Atenolol on Aortic Stiffness and Diastolic Function in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
8 Trial of Beta Blocker Therapy (Atenolol) Versus Angiotensin II Receptor Blocker Therapy (Losartan) in Individuals With Marfan Syndrome (A Trial Conducted by the Pediatric Heart Network) Completed NCT00429364 Phase 3 Losartan Potassium;Atenolol
9 Comparison Study of the Effect of Aliskiren Versus Negative Controls on Aortic Stiffness in Patients With Marfan Syndrome Under Treatment With Atenolol Completed NCT01715207 Phase 3 Aliskiren;Atenolol
10 Artisan Aphakia Lens for the Correction of Aphakia in Children Recruiting NCT01547442 Phase 3
11 Multicenter, Randomised, Double Blind Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan Syndrome Terminated NCT00763893 Phase 3 placebo;Losartan
12 Beta Blockers and Angiotensin Receptor Blockers in Bicuspid Aortic Valve Disease Aortopathy (BAV Study) Terminated NCT01202721 Phase 3 Atenolol;Telmisartan
13 Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Withdrawn NCT01361087 Phase 3
14 A Randomized, Open-label, Active Control Trial to Evaluate the Effect of 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
15 A Randomised, Double-blind, Placebo-controlled Pilot Trial of Irbesartan, Doxycycline and a Combination on Markers of Vascular Dysfunction in the Marfan Syndrome, Using Cardiovascular Magnetic Resonance Imaging 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
16 A Randomized Double-blind Study Assessing the Effects of Losartan Versus Atenolol on Pulse Wave Velocity and the Biophysical Properties of the Aorta in Patients With Marfan Syndrome Completed NCT00593710 Phase 2 Losartan;Atenolol
17 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
18 Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668 Completed NCT00576407 Phase 2
19 Phase I/II Trial of Thymus Transplantation With Immunosuppression, #950 Completed NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
20 Randomised, Placebo Controlled Study to Determine if Aquamin (as AquaCal and AquaPT) Modulates Inflammatory Biomarkers in the Blood of Osteoarthritis and Healthy Subjects Completed NCT01321281 Phase 2
21 A 5-Week, Multi-center, Open-label Study to Assess the Safety and Efficacy of NFC-1 in Subjects Aged 12-17 Years With 22q11.2 Deletion Syndrome and Commonly Associated Neuropsychiatric Conditions (Anxiety, ADHD, ASD) Completed NCT02895906 Phase 1 NFC-1
22 Thymus Transplantation With Immunosuppression, #884 Active, not recruiting NCT00579709 Phase 1
23 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Active, not recruiting NCT00566488 Phase 1
24 Development of a Blood Test for Marfan Syndrome Unknown status NCT02148900
25 Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells Unknown status NCT02815072
26 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
27 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
28 Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome Completed NCT01760668
29 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
30 Correlations' Study Between Variability of Expression in FBN1 Gene and Clinical Features in Marfan Patients. Completed NCT01707563
31 Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue Completed NCT00270686
32 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
33 Thoracic Aortic Dilatation Syndromes - Diagnostic, Incidences, Morbidity, Mortality and Socioeconomical Observations. Completed NCT02111668
34 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
35 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
36 Food and Drug Administration in China Completed NCT02267941
37 A Remediation Program for Children at High-Risk of Schizophrenia: 22q11.2 Deletion Syndrome Completed NCT01781923
38 Clinical and Molecular Manifestations of Heritable Connective Tissue Disorders Completed NCT00001641
39 Asprosin Dynamics Relating to Serum Glucose Levels Under Controlled Alteration Completed NCT03358121
40 Investigation of Patients With BAV Requiring Valve and/or Aortic Repair. Correlation of Surgical and ECO Distinctive Features With Histologic and Genetic Findings in Phenotypically Homogeneous Outlier Cases (GISSI VAR) Completed NCT02283970
41 Incidence of Cancers in Patients With Atherosclerotic Cardiovascular Diseases Completed NCT03005834
42 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
43 Risk of Cardiovascular Disease in Soccer Referees: a Cross Sectional Study Completed NCT03171285
44 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
45 Investigating the Effects of Exercises in Addition to Dynamic Compression Brace in Patients With Pectus Carinatum: a Single Blinded Randomized Controlled Trial Completed NCT03559244
46 Abnormal 3-dimensional MRI Flow Patterns and Plasma Matrix Metalloproteinase Levels Predict Dilatation of Ascending Aorta in Adolescent Patients With Bicuspid Aortic Valve Completed NCT00412386
47 Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome: an Interventional, Prospective, Monocentric Study. Recruiting NCT03236571
48 Sleep Disordered Breathing in Marfan Syndrome: Susceptibility and Hemodynamics Recruiting NCT03985657
49 Children and Adolescents With Marfan Syndrome: 10,000 Healthy Steps and Beyond Recruiting NCT03567460
50 Tele-Clinic Visits in Pediatric Marfan Patients Using Parental Echo: The Future? Recruiting NCT03581682

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:

40
Heart, Bone, Eye, Lung, Spinal Cord, Skin, Testes

Publications for Marfan Syndrome

Articles related to Marfan Syndrome:

(show top 50) (show all 4234)
# Title Authors PMID Year
1
The revised Ghent nosology for the Marfan syndrome. 61 24 56 6
20591885 2010
2
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. 54 61 56 6
11175294 2001
3
Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample. 54 61 56 6
8750301 1995
4
Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. 54 61 56 6
8101042 1993
5
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 54 61 24 6
17701892 2007
6
Heterozygous TGFBR2 mutations in Marfan syndrome. 54 61 24 6
15235604 2004
7
Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome. 61 56 6
8894692 1996
8
A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype. 61 56 6
7977366 1994
9
Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. 61 56 6
8317497 1993
10
Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice. 61 24 56
21493862 2011
11
Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism. 61 24 56
21493863 2011
12
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. 54 24 56
18579813 2008
13
Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. 61 24 56
17237794 2007
14
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. 61 24 56
16601194 2006
15
RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome. 61 24 56
15517394 2005
16
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. 61 24 56
12598898 2003
17
Life expectancy in the Marfan syndrome. 61 24 56
7810492 1995
18
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. 24 6
21542060 2011
19
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 24 6
20375004 2010
20
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. 54 61 56
19996017 2009
21
FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. 54 61 6
18435798 2008
22
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. 54 61 6
17663468 2007
23
Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome. 54 61 56
17568394 2007
24
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. 54 61 6
17492313 2007
25
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 54 61 6
16799921 2006
26
Aneurysm syndromes caused by mutations in the TGF-beta receptor. 24 6
16928994 2006
27
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. 54 61 6
16251899 2006
28
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 54 61 6
16027248 2005
29
Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1. 54 61 56
15776436 2005
30
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 24 6
15731757 2005
31
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. 54 61 6
14695540 2004
32
Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype? 54 61 56
12915484 2003
33
Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome. 54 61 6
10766875 2000
34
Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation. 54 61 56
10756346 2000
35
Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome. 54 61 6
10721679 2000
36
Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. 54 61 56
8533811 1995
37
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. 54 61 6
7611299 1995
38
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. 54 61 6
7738200 1995
39
Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. 54 61 6
7802039 1994
40
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. 54 61 6
8406497 1993
41
Abnormal fibrillin metabolism in bovine Marfan syndrome. 54 61 56
8456941 1993
42
Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome. 54 61 56
1479602 1992
43
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. 54 61 6
1631074 1992
44
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. 54 61 6
1569206 1992
45
Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. 54 61 56
1729284 1992
46
Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition. 61 56
24008997 2014
47
Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome. 61 56
24531548 2014
48
The pulmonary artery in patients with Marfan syndrome: a cross-sectional study. 61 56
22791209 2012
49
Editorial comment: New diagnostic criteria for Marfan syndrome. 61 56
22140068 2012
50
A comparison of the Ghent and revised Ghent nosologies for the diagnosis of Marfan syndrome in an adult Korean population. 61 56
22162372 2012

Variations for Marfan Syndrome

ClinVar genetic disease variations for Marfan Syndrome:

6 (show top 50) (show all 2141) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1):c.1496G>A (p.Cys499Tyr)SNV Pathogenic 155791 rs587782944 15:48805838-48805838 15:48513641-48513641
2 FBN1 NM_000138.4(FBN1):c.5783G>T (p.Cys1928Phe)SNV Pathogenic 155794 rs587782947 15:48738908-48738908 15:48446711-48446711
3 FBN1 NM_000138.4(FBN1):c.(?_4473)_(8280_?)deldeletion Pathogenic 163457 15:48703523-48760718 15:48411326-48468521
4 FBN1 NM_000138.4(FBN1):c.(?_5475)_(5542_?)deldeletion Pathogenic 163458 15:48744762-48744829 15:48452565-48452632
5 FBN1 NM_000138.4(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs)indel Pathogenic 179129 rs727504651 15:48703537-48703538 15:48411340-48411341
6 FBN1 NM_000138.4(FBN1):c.3546C>A (p.Cys1182Ter)SNV Pathogenic 177940 rs727504411 15:48779315-48779315 15:48487118-48487118
7 FBN1 NM_000138.4(FBN1):c.3037G>A (p.Gly1013Arg)SNV Pathogenic 177648 rs140593 15:48782093-48782093 15:48489896-48489896
8 FBN1 NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys)SNV Pathogenic 163480 rs727503057 15:48797303-48797303 15:48505106-48505106
9 FBN1 NM_000138.4(FBN1):c.6886C>T (p.Gln2296Ter)SNV Pathogenic 177938 rs727504410 15:48720654-48720654 15:48428457-48428457
10 FBN1 NM_000138.4(FBN1):c.8080C>T (p.Arg2694Ter)SNV Pathogenic 163461 rs200309328 15:48704912-48704912 15:48412715-48412715
11 FBN1 NM_000138.4(FBN1):c.1335dup (p.Pro446fs)duplication Pathogenic 179300 rs730880356 15:48807716-48807717 15:48515519-48515520
12 FBN1 NM_000138.4(FBN1):c.660del (p.Cys221fs)deletion Pathogenic 179992 rs727505269 15:48829884-48829884 15:48537687-48537687
13 TGFBR2 NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)SNV Pathogenic 180541 rs727504421 3:30732957-30732957 3:30691465-30691465
14 FBN1 NM_000138.4(FBN1):c.4453T>C (p.Cys1485Arg)SNV Pathogenic 180354 rs730880101 15:48762837-48762837 15:48470640-48470640
15 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys)SNV Pathogenic 180352 rs730880099 15:48802322-48802322 15:48510125-48510125
16 FBN1 NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter)SNV Pathogenic 180351 rs112645512 15:48808422-48808422 15:48516225-48516225
17 FBN1 NM_000138.4(FBN1):c.8226+5G>ASNV Pathogenic 200129 rs193922243 15:48704761-48704761 15:48412564-48412564
18 FBN1 NM_000138.4(FBN1):c.8154dup (p.Lys2719Ter)duplication Pathogenic 200173 rs794728321 15:48704837-48704838 15:48412640-48412641
19 FBN1 NM_000138.4(FBN1):c.7624C>T (p.Gln2542Ter)SNV Pathogenic 200119 rs794728276 15:48713830-48713830 15:48421633-48421633
20 FBN1 NM_000138.4(FBN1):c.7125T>A (p.Cys2375Ter)SNV Pathogenic 200105 rs794728265 15:48719843-48719843 15:48427646-48427646
21 FBN1 NM_000138.4(FBN1):c.7039_7040del (p.Met2347fs)deletion Pathogenic 200171 rs794728319 15:48719928-48719929 15:48427731-48427732
22 FBN1 NM_000138.4(FBN1):c.6496G>A (p.Asp2166Asn)SNV Pathogenic 200087 rs794728252 15:48729158-48729158 15:48436961-48436961
23 FBN1 NM_000138.4(FBN1):c.6425G>A (p.Cys2142Tyr)SNV Pathogenic 200192 rs794728335 15:48729229-48729229 15:48437032-48437032
24 FBN1 NM_000138.4(FBN1):c.6169C>T (p.Arg2057Ter)SNV Pathogenic 200076 rs763091520 15:48730109-48730109 15:48437912-48437912
25 FBN1 NM_000138.4(FBN1):c.5208T>A (p.Cys1736Ter)SNV Pathogenic 200060 rs794728234 15:48755295-48755295 15:48463098-48463098
26 FBN1 NM_000138.4(FBN1):c.5097C>G (p.Tyr1699Ter)SNV Pathogenic 200059 rs368979510 15:48755406-48755406 15:48463209-48463209
27 FBN1 NM_000138.4(FBN1):c.4930C>T (p.Arg1644Ter)SNV Pathogenic 200186 rs140630 15:48757777-48757777 15:48465580-48465580
28 FBN1 NM_000138.4(FBN1):c.4888C>T (p.Gln1630Ter)SNV Pathogenic 200056 rs794728231 15:48757819-48757819 15:48465622-48465622
29 FBN1 NM_000138.4(FBN1):c.4621C>T (p.Arg1541Ter)SNV Pathogenic 200052 rs794728228 15:48760261-48760261 15:48468064-48468064
30 FBN1 NM_000138.4(FBN1):c.4405del (p.Arg1469fs)deletion Pathogenic 200160 rs794728308 15:48762885-48762885 15:48470688-48470688
31 FBN1 NM_000138.4(FBN1):c.2638G>A (p.Gly880Ser)SNV Pathogenic 200000 rs794728194 15:48787359-48787359 15:48495162-48495162
32 FBN1 NM_000138.4(FBN1):c.2539+1G>ASNV Pathogenic 199998 rs794728192 15:48787665-48787665 15:48495468-48495468
33 FBN1 NM_000138.4(FBN1):c.2306G>A (p.Cys769Tyr)SNV Pathogenic 199995 rs794728190 15:48788410-48788410 15:48496213-48496213
34 FBN1 NM_000138.4(FBN1):c.2180G>A (p.Cys727Tyr)SNV Pathogenic 199991 15:48789576-48789576 15:48497379-48497379
35 FBN1 NM_000138.4(FBN1):c.1759T>G (p.Cys587Gly)SNV Pathogenic 199978 rs1555399968 15:48800857-48800857 15:48508660-48508660
36 FBN1 NM_000138.4(FBN1):c.1693C>T (p.Arg565Ter)SNV Pathogenic 199975 rs113422242 15:48802262-48802262 15:48510065-48510065
37 FBN1 NM_000138.4(FBN1):c.1426T>G (p.Cys476Gly)SNV Pathogenic 200179 rs794728326 15:48807626-48807626 15:48515429-48515429
38 FBN1 NM_000138.4(FBN1):c.1090C>T (p.Arg364Ter)SNV Pathogenic 199963 rs794728165 15:48812913-48812913 15:48520716-48520716
39 FBN1 NM_000138.4(FBN1):c.640G>A (p.Gly214Ser)SNV Pathogenic 199956 rs794728162 15:48829904-48829904 15:48537707-48537707
40 FBN1 NM_000138.4(FBN1):c.164+1G>ASNV Pathogenic 200030 rs794728213 15:48936802-48936802 15:48644605-48644605
41 FBN1 NM_000138.5(FBN1):c.8226+1G>ASNV Pathogenic 225629 rs398122833 15:48704765-48704765 15:48412568-48412568
42 FBN1 NM_000138.4(FBN1):c.6920G>C (p.Cys2307Ser)SNV Pathogenic 16422 rs137854457 15:48720620-48720620 15:48428423-48428423
43 FBN1 NM_000138.4(FBN1):c.7455_7821deldeletion Pathogenic 16423
44 FBN1 NM_000138.4(FBN1):c.8268G>A (p.Trp2756Ter)SNV Pathogenic 16424 rs267606796 15:48703535-48703535 15:48411338-48411338
45 FBN1 NM_000138.4(FBN1):c.3746G>C (p.Cys1249Ser)SNV Pathogenic 16425 rs137854458 15:48776107-48776107 15:48483910-48483910
46 FBN1 NM_000138.4(FBN1):c.4987T>C (p.Cys1663Arg)SNV Pathogenic 16426 rs137854459 15:48756174-48756174 15:48463977-48463977
47 FBN1 NM_000138.4(FBN1):c.6662G>C (p.Cys2221Ser)SNV Pathogenic 16427 rs137854460 15:48725140-48725140 15:48432943-48432943
48 FBN1 NM_000138.4(FBN1):c.3350G>A (p.Cys1117Tyr)SNV Pathogenic 16428 rs137854470 15:48779622-48779622 15:48487425-48487425
49 FBN1 NM_000138.4(FBN1):c.3725G>A (p.Cys1242Tyr)SNV Pathogenic 16429 rs137854471 15:48776128-48776128 15:48483931-48483931
50 FBN1 NM_000138.4(FBN1):c.6339T>G (p.Tyr2113Ter)SNV Pathogenic 16430 rs267606797 15:48729559-48729559 15:48437362-48437362

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

73 (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

Copy number variations for Marfan Syndrome from CNVD:

7
# CNVD ID Chromosome 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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 TGFBR2 TGFBR1 MYH11 LTBP2 FBN3 FBN2
2
Show member pathways
13.21 TGFBR2 TGFBR1 MYH11 MMP2 FBN3 FBN2
3
Show member pathways
12.83 TGFBR1 LTBP2 FBN3 FBN2 FBN1 ELN
4
Show member pathways
12.73 LOX ELN COL5A2 COL5A1 COL3A1 COL1A2
5
Show member pathways
12.58 TGFBR2 TGFBR1 MMP2 COL3A1 COL1A2 ACTA2
6
Show member pathways
12.05 MMP2 LTBP2 LOX FBN3 FBN2 FBN1
7 11.91 TGFBR2 TGFBR1 MMP2 COL3A1 COL1A2 AGTR1
8 11.83 TGFBR2 TGFBR1 FBN1 DCN BMP6
9
Show member pathways
11.71 LTBP2 LOX FBN3 FBN2 FBN1 ELN
10 11.63 TGFBR2 TGFBR1 MMP2 BMP6 ACTA2
11
Show member pathways
11.62 TGFBR2 TGFBR1 LOX
12 11.51 MMP2 COL3A1 COL1A2
13 11.41 COL5A2 COL5A1 COL3A1 COL1A2
14 11.24 MMP2 DCN COL1A2
15 10.92 LTBP2 FBN3 FBN2 FBN1 ELN COL5A2
16 10.9 TGFBR2 TGFBR1 LTBP2 FBN3 FBN2 FBN1

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 10.06 MMP2 LTBP2 LOX FBN1 DCN COL5A2
2 extracellular region GO:0005576 9.97 MMP2 LTBP2 LOX FBN3 FBN2 FBN1
3 endoplasmic reticulum lumen GO:0005788 9.8 FBN1 COL5A2 COL5A1 COL3A1 COL1A2
4 collagen trimer GO:0005581 9.65 LOX COL5A2 COL5A1 COL3A1 COL1A2
5 collagen-containing extracellular matrix GO:0062023 9.65 MMP2 LTBP2 FBN2 FBN1 ELN DCN
6 microfibril GO:0001527 9.43 FBN2 FBN1
7 extracellular matrix GO:0031012 9.4 MMP2 LTBP2 LOX FBN3 FBN2 FBN1
8 collagen type V trimer GO:0005588 9.37 COL5A2 COL5A1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.91 TGFBR2 TGFBR1 PKD1 LOX FBN1 COL3A1
2 transforming growth factor beta receptor signaling pathway GO:0007179 9.8 TGFBR2 TGFBR1 LTBP2 COL3A1 COL1A2
3 skeletal system development GO:0001501 9.8 TGFBR1 FBN1 COL5A2 COL3A1 COL1A2 BMP6
4 cartilage development GO:0051216 9.78 TGFBR2 PKD1 BMP6
5 cellular response to amino acid stimulus GO:0071230 9.78 MMP2 COL5A2 COL3A1 COL1A2
6 wound healing GO:0042060 9.77 TGFBR2 TGFBR1 LOX DCN COL3A1
7 skin development GO:0043588 9.76 PKD1 COL5A2 COL5A1 COL3A1
8 response to mechanical stimulus GO:0009612 9.74 TGFBR2 DCN COL3A1
9 digestive tract development GO:0048565 9.71 TGFBR2 PKD1 COL3A1
10 supramolecular fiber organization GO:0097435 9.67 LTBP2 COL5A1 COL3A1
11 blood vessel development GO:0001568 9.65 TGFBR2 PKD1 COL5A1 COL3A1 COL1A2
12 kidney development GO:0001822 9.63 TGFBR1 PKD1 FBN1 DCN BMP6 AGTR1
13 activin receptor signaling pathway GO:0032924 9.62 TGFBR2 TGFBR1
14 pathway-restricted SMAD protein phosphorylation GO:0060389 9.62 TGFBR2 TGFBR1
15 positive regulation of SMAD protein signal transduction GO:0060391 9.61 TGFBR1 BMP6
16 response to cholesterol GO:0070723 9.6 TGFBR2 TGFBR1
17 elastic fiber assembly GO:0048251 9.59 MYH11 LOX
18 embryonic eye morphogenesis GO:0048048 9.58 FBN2 FBN1
19 bone trabecula formation GO:0060346 9.58 MMP2 FBN2
20 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.56 TGFBR2 TGFBR1
21 sequestering of TGFbeta in extracellular matrix GO:0035583 9.55 FBN2 FBN1
22 eye morphogenesis GO:0048592 9.52 COL5A2 COL5A1
23 negative regulation of endodermal cell differentiation GO:1903225 9.51 COL5A2 COL5A1
24 collagen fibril organization GO:0030199 9.43 TGFBR1 LOX COL5A2 COL5A1 COL3A1 COL1A2
25 extracellular matrix organization GO:0030198 9.32 MMP2 LOX FBN2 FBN1 ELN DCN

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.39 TGFBR2 TGFBR1 PKD1 MYH11 MMP2 LTBP2
2 platelet-derived growth factor binding GO:0048407 9.5 COL5A1 COL3A1 COL1A2
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.46 COL5A2 COL5A1 COL3A1 COL1A2
4 activin binding GO:0048185 9.43 TGFBR2 TGFBR1
5 extracellular matrix constituent conferring elasticity GO:0030023 9.43 FBN2 FBN1 ELN
6 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.4 TGFBR2 TGFBR1
7 transforming growth factor beta-activated receptor activity GO:0005024 9.37 TGFBR2 TGFBR1
8 SMAD binding GO:0046332 9.35 TGFBR2 TGFBR1 COL5A2 COL3A1 COL1A2
9 extracellular matrix structural constituent GO:0005201 9.28 LTBP2 FBN3 FBN2 FBN1 ELN COL5A2

Sources for Marfan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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