MFS
MCID: MRF001
MIFTS: 77

Marfan Syndrome (MFS)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal 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 isolated ectopia lentis. 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 specific test for 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 that affects the connective tissue. Those with the condition... 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 729)
# Related Disease Score Top Affiliating Genes
1 neonatal marfan syndrome 34.8 FBN1 DCN
2 isolated ectopia lentis 33.4 LTBP2 FBN2 FBN1 CBS
3 pectus carinatum 33.1 FBN1 COL5A2
4 ectopia lentis 1, isolated, autosomal dominant 33.1 TGFBR2 FBN1
5 ectopia lentis 2, isolated, autosomal recessive 32.6 TGFBR2 FBN1
6 loeys-dietz syndrome 32.4 TGFBR2 TGFBR1 TGFB2 MYH11 FBN2 FBN1
7 aortic valve insufficiency 31.6 TGFBR2 TGFBR1 MYH11 FBN1 ELN ACTA2
8 connective tissue disease 31.6 TGFBR2 TGFBR1 TGFB2 MYH11 LOX FBN2
9 familial thoracic aortic aneurysm and aortic dissection 31.6 TGFBR2 TGFBR1 TGFB2 MYH11 LOX FBN2
10 pneumothorax 31.6 MMP2 FBN1 ELN COL5A1
11 aortic aneurysm, familial thoracic 1 31.5 TGFBR2 TGFBR1 TGFB2 MYH11 MMP2 LTBP2
12 lens subluxation 31.5 LTBP2 FBN1 CBS
13 orthostatic intolerance 31.4 TGFBR2 TGFBR1 TGFB2 PKD1 MYH11 FBN2
14 aortic aneurysm, familial abdominal, 1 31.3 MMP2 FBN1 ELN DCN
15 aortic dissection 31.3 TGFBR2 TGFBR1 TGFB2 MYH11 LOX FBN1
16 idiopathic scoliosis 31.3 FBN2 FBN1 COL1A2
17 retinal detachment 31.2 TGFB2 MMP2 LOX ELN
18 intraocular pressure quantitative trait locus 31.1 TGFB2 LTBP2 FBN1 ELN
19 myopia 31.0 TGFB2 MMP2 LTBP2 FBN2 FBN1 DCN
20 weill-marchesani syndrome 31.0 LTBP2 FBN2 FBN1 ELN
21 pulmonary emphysema 31.0 MMP2 LOX ELN
22 aneurysm 31.0 TGFBR2 TGFBR1 TGFB2 MYH11 LOX FBN2
23 acromicric dysplasia 31.0 LTBP2 FBN2 FBN1
24 nontuberculous mycobacterial lung disease 31.0 FBN1 BMP6
25 scoliosis 31.0 TGFBR2 TGFB2 LOX FBN2 FBN1 ELN
26 geleophysic dysplasia 31.0 LTBP2 FBN2 FBN1
27 marden-walker syndrome 30.9 FBN2 FBN1
28 aortic aneurysm 30.9 TGFBR2 TGFBR1 TGFB2 MYH11 MMP2 LOX
29 tricuspid valve prolapse 30.9 TGFBR2 TGFBR1 TGFB2 FBN2 FBN1 COL3A1
30 ehlers-danlos syndrome 30.8 TGFBR1 MYH11 FBN2 FBN1 ELN DCN
31 cerebral aneurysms 30.8 MMP2 ELN
32 geleophysic dysplasia 2 30.8 LTBP2 FBN1
33 vascular disease 30.8 ELN CBS BMP6 AGTR1 ACTA2
34 mitral valve disease 30.8 TGFB2 FBN1 ELN AGTR1
35 stickler syndrome 30.7 FBN1 COL5A2 COL1A2
36 stiff skin syndrome 30.7 TGFB2 LTBP2 FBN2 FBN1 COL1A2
37 scleroderma, familial progressive 30.7 FBN1 COL1A2 BMP6
38 aortic disease 30.7 TGFBR2 TGFBR1 TGFB2 MYH11 MMP2 LOX
39 ehlers-danlos syndrome, vascular type 30.7 ELN COL3A1
40 homocystinuria 30.7 LOX FBN1 CBS
41 loeys-dietz syndrome 4 30.7 TGFBR2 TGFBR1 TGFB2 FBN1
42 homocysteinemia 30.6 FBN1 ELN CBS
43 telangiectasis 30.6 TGFBR1 FBN1 ELN BMP6
44 pseudoxanthoma elasticum 30.6 MYH11 MMP2 FBN1 ELN DCN
45 loeys-dietz syndrome 5 30.5 TGFBR2 TGFBR1 TGFB2 FBN1
46 supravalvular aortic stenosis 30.5 MMP2 FBN1 ELN
47 brittle bone disorder 30.5 FBN1 ELN DCN COL5A2 COL5A1 COL3A1
48 pulmonary fibrosis 30.5 MMP2 ELN DCN BMP6
49 loeys-dietz syndrome 1 30.5 TGFBR2 TGFBR1 TGFB2 MYH11 FBN1 ACTA2
50 patent ductus arteriosus 1 30.5 TGFBR2 TGFBR1 MYH11 FBN1 ELN ACTA2

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 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
11 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
12 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
13 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
14 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
15 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
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 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
28 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
29 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
30 open bite 58 31 occasional (7.5%) Occasional (29-5%) HP:0010807
31 emphysema 58 31 occasional (7.5%) Occasional (29-5%) HP:0002097
32 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
33 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
34 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
35 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
36 cachexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004326
37 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
38 osteopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000938
39 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
40 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
41 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
42 arterial dissection 58 31 occasional (7.5%) Occasional (29-5%) HP:0005294
43 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
44 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
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
Head And Neck Mouth:
narrow palate
high-arched palate

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

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
ectopia lentis
retinal detachment
downslanting palpebral fissures
iris hypoplasia
more
Skin Nails Hair Skin:
striae distensae
decreased subcutaneous fat

Head And Neck Head:
dolichocephaly

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

Skeletal Limbs:
genu recurvatum
joint hypermobility
joint contractures
long bone overgrowth (dolichostenomelia)

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

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

Skeletal Hands:
arachnodactyly

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

GenomeRNAi Phenotypes related to Marfan Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.7 PKD1
2 Decreased viability GR00055-A-2 9.7 PKD1
3 Decreased viability GR00107-A-1 9.7 TGFBR2
4 Decreased viability GR00221-A-1 9.7 COL3A1 TGFBR1 TGFBR2
5 Decreased viability GR00221-A-2 9.7 COL3A1
6 Decreased viability GR00221-A-3 9.7 TGFBR2
7 Decreased viability GR00221-A-4 9.7 COL3A1 TGFBR1 TGFBR2
8 Decreased viability GR00249-S 9.7 ACTA2 DCN LTBP2 TGFBR1 TGFBR2
9 Decreased viability GR00386-A-1 9.7 ELN TGFB2
10 Decreased viability GR00402-S-2 9.7 ELN FBN1 FBN2 LTBP2 TGFBR1 TGFBR2

MGI Mouse Phenotypes related to Marfan Syndrome:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.44 ACTA2 AGTR1 COL1A2 COL3A1 COL5A1 COL5A2
2 growth/size/body region MP:0005378 10.37 AGTR1 BMP6 COL1A2 COL3A1 COL5A1 COL5A2
3 homeostasis/metabolism MP:0005376 10.27 AGTR1 COL1A2 COL3A1 DCN FBN1 FBN2
4 mortality/aging MP:0010768 10.27 AGTR1 COL1A2 COL3A1 COL5A1 COL5A2 DCN
5 hematopoietic system MP:0005397 10.26 AGTR1 COL1A2 COL3A1 DCN FBN1 FBN2
6 immune system MP:0005387 10.21 AGTR1 COL1A2 COL3A1 DCN FBN1 FBN2
7 integument MP:0010771 10.18 COL1A2 COL3A1 COL5A1 COL5A2 DCN FBN1
8 muscle MP:0005369 10.13 ACTA2 COL1A2 COL3A1 DCN FBN1 FBN2
9 adipose tissue MP:0005375 10.09 AGTR1 COL1A2 COL3A1 FBN1 FBN2 PKD1
10 craniofacial MP:0005382 10.07 DCN FBN1 FBN2 MMP2 PKD1 TGFB2
11 digestive/alimentary MP:0005381 10.05 COL3A1 DCN MYH11 PKD1 TGFB2 TGFBR1
12 respiratory system MP:0005388 9.97 COL3A1 COL5A2 DCN FBN1 FBN2 LOX
13 renal/urinary system MP:0005367 9.86 AGTR1 DCN FBN1 FBN2 MYH11 PKD1
14 skeleton MP:0005390 9.73 BMP6 COL1A2 COL5A2 DCN FBN1 FBN2
15 vision/eye MP:0005391 9.32 ACTA2 COL1A2 COL5A1 COL5A2 DCN 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 92)
# 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
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
5
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
6
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
7 Angiotensin-Converting Enzyme Inhibitors Phase 4
8
protease inhibitors Phase 4
9 HIV Protease Inhibitors Phase 4
10 Vasodilator Agents Phase 4
11 Calcium, Dietary Phase 4
12 calcium channel blockers Phase 4
13 Dopamine Agents Phase 4
14 Dopamine Antagonists Phase 4
15 Central Nervous System Stimulants Phase 4
16 Psychotropic Drugs Phase 4
17 Antipsychotic Agents Phase 4
18
Calcium Nutraceutical Phase 4 7440-70-2 271
19
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
20
Nebivolol Approved, Investigational Phase 3 99200-09-6, 118457-14-0, 152520-56-4 71301
21
Angiotensin II Approved, Investigational Phase 3 4474-91-3, 11128-99-7, 68521-88-0 172198
22
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
23 Adrenergic beta-Agonists Phase 3
24 Adrenergic Agonists Phase 3
25 Antihypertensive Agents Phase 3
26 Angiotensin II Type 1 Receptor Blockers Phase 3
27 Adrenergic beta-1 Receptor Antagonists Phase 3
28 Neurotransmitter Agents Phase 3
29 Angiotensinogen Phase 3
30 Adrenergic Antagonists Phase 3
31 Adrenergic Agents Phase 3
32 Sympatholytics Phase 3
33 Angiotensin Receptor Antagonists Phase 3
34 Anti-Arrhythmia Agents Phase 3
35 Adrenergic beta-Antagonists Phase 3
36 Giapreza Phase 3
37
Propranolol Approved, Investigational Phase 2 525-66-6 4946
38
Irbesartan Approved, Investigational Phase 2 138402-11-6 3749
39
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
40
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
41
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
42
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
43
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
44
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
45
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
46
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
47 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
48
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
49
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
50
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927

Interventional clinical trials:

(show top 50) (show all 68)
# 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 Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668 Completed NCT00576407 Phase 2
18 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
19 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
20 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
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 Completed NCT00579709 Phase 1
23 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed 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 Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity Completed NCT04319107
33 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
34 Thoracic Aortic Dilatation Syndromes - Diagnostic, Incidences, Morbidity, Mortality and Socioeconomical Observations. Completed NCT02111668
35 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
36 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
37 Is Obstructive Sleep Apnoea a Risk Factor for Thoracic Aortic Aneurysm Expansion? A Prospective Cohort Study. Completed NCT02204774
38 Food and Drug Administration in China Completed NCT02267941
39 A Remediation Program for Children at High-Risk of Schizophrenia: 22q11.2 Deletion Syndrome Completed NCT01781923
40 Clinical and Molecular Manifestations of Heritable Connective Tissue Disorders Completed NCT00001641
41 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
42 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
43 Asprosin Dynamics Relating to Serum Glucose Levels Under Controlled Alteration Completed NCT03358121
44 Incidence of Cancers in Patients With Atherosclerotic Cardiovascular Diseases Completed NCT03005834
45 Risk of Cardiovascular Disease in Soccer Referees: a Cross Sectional Study Completed NCT03171285
46 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
47 Investigating the Effects of Exercises in Addition to Dynamic Compression Brace in Patients With Pectus Carinatum: a Single Blinded Randomized Controlled Trial Completed NCT03559244
48 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
49 Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome: an Interventional, Prospective, Monocentric Study. Recruiting NCT03236571
50 Sleep Disordered Breathing in Marfan Syndrome: Susceptibility and Hemodynamics Recruiting NCT03985657

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, Testes, Skin

Publications for Marfan Syndrome

Articles related to Marfan Syndrome:

(show top 50) (show all 4306)
# Title Authors PMID Year
1
The revised Ghent nosology for the Marfan syndrome. 61 56 6 24
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 6 56
8750301 1995
4
Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. 61 54 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. 6 54 24 61
17701892 2007
6
Heterozygous TGFBR2 mutations in Marfan syndrome. 6 24 54 61
15235604 2004
7
Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome. 56 6 61
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. 6 56 61
8317497 1993
10
Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice. 24 61 56
21493862 2011
11
Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism. 61 56 24
21493863 2011
12
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. 24 54 56
18579813 2008
13
Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. 56 24 61
17237794 2007
14
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. 24 56 61
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. 24 56 61
15517394 2005
16
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. 56 24 61
12598898 2003
17
Life expectancy in the Marfan syndrome. 56 61 24
7810492 1995
18
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. 6 24
21542060 2011
19
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 6 24
20375004 2010
20
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. 56 54 61
19996017 2009
21
FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. 61 54 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. 61 54 56
17568394 2007
24
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. 61 54 6
17492313 2007
25
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 61 6 54
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. 61 54 6
16251899 2006
28
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 6 61 54
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. 56 54 61
15776436 2005
30
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 6 24
15731757 2005
31
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. 61 54 6
14695540 2004
32
Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype? 56 61 54
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. 61 54 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. 56 61 54
10756346 2000
35
Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome. 54 6 61
10721679 2000
36
Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. 56 61 54
8533811 1995
37
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. 6 61 54
7611299 1995
38
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. 61 6 54
7738200 1995
39
Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. 6 54 61
7802039 1994
40
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. 6 61 54
8406497 1993
41
Abnormal fibrillin metabolism in bovine Marfan syndrome. 56 54 61
8456941 1993
42
Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome. 61 54 56
1479602 1992
43
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. 61 6 54
1631074 1992
44
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. 6 61 54
1569206 1992
45
Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. 56 61 54
1729284 1992
46
Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome. 61 56
24531548 2014
47
Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition. 56 61
24008997 2014
48
The pulmonary artery in patients with Marfan syndrome: a cross-sectional study. 61 56
22791209 2012
49
Diagnostic yield in adults screened at the Marfan outpatient clinic using the 1996 and 2010 Ghent nosologies. 61 56
22461464 2012
50
Editorial comment: New diagnostic criteria for Marfan syndrome. 61 56
22140068 2012

Variations for Marfan Syndrome

ClinVar genetic disease variations for Marfan Syndrome:

6 (show top 50) (show all 2465) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1):c.4253_4259del (p.Gly1418fs)deletion Pathogenic 41409 rs398122934 15:48764825-48764831 15:48472628-48472634
2 FBN1 NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter)SNV Pathogenic 42280 rs397515753 15:48812952-48812952 15:48520755-48520755
3 FBN1 NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter)SNV Pathogenic 42281 rs397515754 15:48808515-48808515 15:48516318-48516318
4 FBN1 NM_000138.5(FBN1):c.1095C>A (p.Cys365Ter)SNV Pathogenic 42282 rs397515755 15:48812908-48812908 15:48520711-48520711
5 FBN1 NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter)SNV Pathogenic 42285 rs113812345 15:48805788-48805788 15:48513591-48513591
6 FBN1 NM_000138.5(FBN1):c.2407A>T (p.Lys803Ter)SNV Pathogenic 42303 rs397515768 15:48788309-48788309 15:48496112-48496112
7 FBN1 NM_000138.4(FBN1):c.2412_2413del (p.Thr804_Cys805insTer)deletion Pathogenic 42304 rs397515769 15:48788303-48788304 15:48496106-48496107
8 FBN1 NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg)SNV Pathogenic 42301 rs397515766 15:48788375-48788375 15:48496178-48496178
9 FBN1 NM_000138.5(FBN1):c.247+1G>ASNV Pathogenic 42307 rs25404 15:48905206-48905206 15:48613009-48613009
10 FBN1 NM_000138.5(FBN1):c.2855-1G>ASNV Pathogenic 42318 rs112202622 15:48782276-48782276 15:48490079-48490079
11 FBN1 NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr)SNV Pathogenic 42327 rs397515786 15:48780609-48780609 15:48488412-48488412
12 FBN1 NM_000138.4(FBN1):c.3274del (p.Asp1092fs)deletion Pathogenic 42329 rs397515788 15:48780373-48780373 15:48488176-48488176
13 FBN1 NM_000138.5(FBN1):c.3463+1G>TSNV Pathogenic 42336 rs397515792 15:48779508-48779508 15:48487311-48487311
14 FBN1 NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr)SNV Pathogenic 42340 rs397515794 15:48892410-48892410 15:48600213-48600213
15 FBN1 NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg)SNV Pathogenic 42351 rs397515802 15:48764862-48764862 15:48472665-48472665
16 FBN1 NM_000138.5(FBN1):c.4367G>C (p.Cys1456Ser)SNV Pathogenic 42360 rs397515805 15:48762923-48762923 15:48470726-48470726
17 FBN1 NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter)SNV Pathogenic 42366 rs111231312 15:48760267-48760267 15:48468070-48468070
18 FBN1 NM_000138.5(FBN1):c.5066-1G>CSNV Pathogenic 42378 rs397515819 15:48755438-48755438 15:48463241-48463241
19 FBN1 NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr)SNV Pathogenic 42376 rs397515817 15:48756206-48756206 15:48464009-48464009
20 FBN1 NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter)SNV Pathogenic 42382 rs113249837 15:48748888-48748888 15:48456691-48456691
21 FBN1 NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter)SNV Pathogenic 42393 rs363807 15:48737627-48737627 15:48445430-48445430
22 FBN1 NM_000138.5(FBN1):c.5788+5G>ASNV Pathogenic 42394 rs193922219 15:48738898-48738898 15:48446701-48446701
23 FBN1 NM_000138.5(FBN1):c.643C>T (p.Arg215Ter)SNV Pathogenic 42401 rs111687884 15:48829901-48829901 15:48537704-48537704
24 FBN1 NM_000138.4(FBN1):c.7165_7166CT[1] (p.Cys2390fs)short repeat Pathogenic 42420 rs397515846 15:48719800-48719801 15:48427603-48427604
25 FBN1 NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter)SNV Pathogenic 42422 rs397515848 15:48719788-48719788 15:48427591-48427591
26 FBN1 NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)SNV Pathogenic 42429 rs397515854 15:48713848-48713848 15:48421651-48421651
27 FBN1 NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter)SNV Pathogenic 42441 rs397515861 15:48703536-48703536 15:48411339-48411339
28 FBN1 NM_000138.5(FBN1):c.958dup (p.Tyr320fs)duplication Pathogenic 42448 rs397515867 15:48818356-48818357 15:48526159-48526160
29 LTBP2 NM_000428.3(LTBP2):c.1642C>T (p.Arg548Ter)SNV Pathogenic 126952 rs137854855 14:75017811-75017811 14:74551108-74551108
30 FBN1 NM_000138.4(FBN1):c.385T>G (p.Cys129Gly)SNV Pathogenic 126960 rs199474693 15:48892393-48892393 15:48600196-48600196
31 FBN1 NM_000138.4(FBN1):c.1496G>A (p.Cys499Tyr)SNV Pathogenic 155791 rs587782944 15:48805838-48805838 15:48513641-48513641
32 FBN1 NM_000138.4(FBN1):c.5783G>T (p.Cys1928Phe)SNV Pathogenic 155794 rs587782947 15:48738908-48738908 15:48446711-48446711
33 FBN1 NM_000138.4(FBN1):c.(?_4473)_(8280_?)deldeletion Pathogenic 163457 15:48703523-48760718 15:48411326-48468521
34 FBN1 NM_000138.4(FBN1):c.(?_5475)_(5542_?)deldeletion Pathogenic 163458 15:48744762-48744829 15:48452565-48452632
35 FBN1 NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs)indel Pathogenic 179129 rs727504651 15:48703537-48703538 15:48411340-48411341
36 FBN1 NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter)SNV Pathogenic 177940 rs727504411 15:48779315-48779315 15:48487118-48487118
37 FBN1 NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)SNV Pathogenic 177648 rs140593 15:48782093-48782093 15:48489896-48489896
38 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)SNV Pathogenic 163480 rs727503057 15:48797303-48797303 15:48505106-48505106
39 FBN1 NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter)SNV Pathogenic 177938 rs727504410 15:48720654-48720654 15:48428457-48428457
40 FBN1 NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)SNV Pathogenic 163461 rs200309328 15:48704912-48704912 15:48412715-48412715
41 FBN1 NM_000138.5(FBN1):c.1335dup (p.Pro446fs)duplication Pathogenic 179300 rs730880356 15:48807716-48807717 15:48515519-48515520
42 FBN1 NM_000138.4(FBN1):c.660del (p.Cys221fs)deletion Pathogenic 179992 rs727505269 15:48829884-48829884 15:48537687-48537687
43 TGFBR2 NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)SNV Pathogenic 180541 rs727504421 3:30732957-30732957 3:30691465-30691465
44 FBN1 NM_000138.4(FBN1):c.4453T>C (p.Cys1485Arg)SNV Pathogenic 180354 rs730880101 15:48762837-48762837 15:48470640-48470640
45 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys)SNV Pathogenic 180352 rs730880099 15:48802322-48802322 15:48510125-48510125
46 FBN1 NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter)SNV Pathogenic 180351 rs112645512 15:48808422-48808422 15:48516225-48516225
47 FBN1 NM_000138.4(FBN1):c.6496G>A (p.Asp2166Asn)SNV Pathogenic 200087 rs794728252 15:48729158-48729158 15:48436961-48436961
48 FBN1 NM_000138.4(FBN1):c.8226+5G>ASNV Pathogenic 200129 rs193922243 15:48704761-48704761 15:48412564-48412564
49 FBN1 NM_000138.4(FBN1):c.8154dup (p.Lys2719Ter)duplication Pathogenic 200173 rs794728321 15:48704837-48704838 15:48412640-48412641
50 FBN1 NM_000138.4(FBN1):c.7624C>T (p.Gln2542Ter)SNV Pathogenic 200119 rs794728276 15:48713830-48713830 15:48421633-48421633

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 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 TGFBR2 TGFBR1 TGFB2 MYH11 LTBP2 FBN2
2
Show member pathways
13.28 TGFBR2 TGFBR1 TGFB2 MYH11 MMP2 FBN2
3
Show member pathways
13.22 TGFBR2 TGFBR1 TGFB2 MYH11 LTBP2 BMP6
4
Show member pathways
12.84 TGFBR2 TGFBR1 TGFB2 MYH11 ACTA2
5
Show member pathways
12.83 TGFBR1 TGFB2 LTBP2 FBN2 FBN1 ELN
6
Show member pathways
12.77 LOX ELN COL5A2 COL5A1 COL3A1 COL1A2
7 12.75 TGFBR2 TGFBR1 TGFB2 MMP2 AGTR1
8
Show member pathways
12.6 TGFBR2 TGFBR1 MMP2 COL3A1 COL1A2 ACTA2
9 12.23 TGFB2 MMP2 DCN COL1A2
10 12.11 TGFBR2 TGFBR1 TGFB2 MMP2
11 12.08 TGFBR2 TGFBR1 TGFB2 BMP6
12
Show member pathways
12.05 TGFB2 MMP2 LTBP2 LOX FBN2 FBN1
13 11.91 TGFBR2 TGFBR1 TGFB2 FBN1 DCN BMP6
14 11.83 TGFB2 COL3A1 COL1A2
15 11.82 TGFB2 DCN BMP6 ACTA2
16 11.8 TGFBR2 TGFBR1 TGFB2
17 11.8 TGFBR2 TGFBR1 TGFB2 MMP2 COL3A1 COL1A2
18
Show member pathways
11.77 TGFBR2 TGFBR1 TGFB2
19 11.76 TGFBR1 TGFB2 MMP2
20
Show member pathways
11.74 TGFB2 LTBP2 LOX FBN2 FBN1 ELN
21
Show member pathways
11.69 TGFBR2 TGFBR1 LOX
22 11.69 TGFBR2 TGFBR1 TGFB2 MMP2 BMP6 ACTA2
23 11.57 MMP2 COL3A1 COL1A2
24
Show member pathways
11.55 TGFBR2 TGFBR1 TGFB2 MMP2
25 11.46 TGFBR2 TGFBR1 TGFB2
26 11.43 COL5A2 COL5A1 COL3A1 COL1A2
27 11.28 MMP2 DCN COL1A2
28 11.2 TGFBR2 TGFBR1 TGFB2
29 10.97 TGFB2 LTBP2 FBN2 FBN1 ELN COL5A2
30 10.92 TGFBR2 TGFBR1 TGFB2
31 10.83 TGFBR2 TGFBR1 LTBP2 FBN2 FBN1 AGTR1

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 region GO:0005576 10.07 TGFB2 MMP2 LTBP2 LOX FBN2 FBN1
2 extracellular space GO:0005615 9.93 TGFB2 MMP2 LTBP2 LOX FBN1 DCN
3 endoplasmic reticulum lumen GO:0005788 9.77 FBN1 COL5A2 COL5A1 COL3A1 COL1A2
4 collagen trimer GO:0005581 9.72 LOX COL5A2 COL5A1 COL3A1 COL1A2
5 collagen-containing extracellular matrix GO:0062023 9.7 TGFB2 MMP2 LTBP2 FBN2 FBN1 ELN
6 microfibril GO:0001527 9.43 FBN2 FBN1
7 collagen type V trimer GO:0005588 9.4 COL5A2 COL5A1
8 extracellular matrix GO:0031012 9.36 MMP2 LTBP2 LOX FBN2 FBN1 ELN

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.98 TGFBR2 TGFBR1 TGFB2 PKD1 LOX FBN1
2 transforming growth factor beta receptor signaling pathway GO:0007179 9.88 TGFBR2 TGFBR1 TGFB2 LTBP2 COL3A1 COL1A2
3 skeletal system development GO:0001501 9.87 TGFBR1 TGFB2 FBN1 COL5A2 COL3A1 COL1A2
4 wound healing GO:0042060 9.85 TGFBR2 TGFBR1 TGFB2 LOX DCN COL3A1
5 cartilage development GO:0051216 9.81 TGFBR2 PKD1 BMP6
6 cellular response to amino acid stimulus GO:0071230 9.8 MMP2 COL5A2 COL3A1 COL1A2
7 response to mechanical stimulus GO:0009612 9.78 TGFBR2 DCN COL3A1
8 skin development GO:0043588 9.78 PKD1 COL5A2 COL5A1 COL3A1
9 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.77 TGFBR1 TGFB2 BMP6
10 positive regulation of epithelial to mesenchymal transition GO:0010718 9.77 TGFBR2 TGFBR1 TGFB2
11 ventricular septum morphogenesis GO:0060412 9.74 TGFBR2 TGFBR1 TGFB2
12 blood vessel development GO:0001568 9.73 TGFBR2 PKD1 LOX COL5A1 COL3A1 COL1A2
13 digestive tract development GO:0048565 9.72 TGFBR2 PKD1 COL3A1
14 supramolecular fiber organization GO:0097435 9.7 LTBP2 COL5A1 COL3A1
15 kidney development GO:0001822 9.7 TGFBR1 TGFB2 PKD1 FBN1 DCN BMP6
16 pathway-restricted SMAD protein phosphorylation GO:0060389 9.69 TGFBR2 TGFBR1 TGFB2
17 ventricular trabecula myocardium morphogenesis GO:0003222 9.66 TGFBR1 TGFB2
18 positive regulation of SMAD protein signal transduction GO:0060391 9.65 TGFBR1 BMP6
19 secondary palate development GO:0062009 9.65 TGFBR2 TGFB2
20 cardiac epithelial to mesenchymal transition GO:0060317 9.65 TGFBR1 TGFB2
21 atrioventricular valve morphogenesis GO:0003181 9.64 TGFBR2 TGFB2
22 response to cholesterol GO:0070723 9.63 TGFBR2 TGFBR1
23 elastic fiber assembly GO:0048251 9.63 MYH11 LOX
24 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.63 TGFBR2 TGFBR1 TGFB2
25 embryonic eye morphogenesis GO:0048048 9.62 FBN2 FBN1
26 membranous septum morphogenesis GO:0003149 9.62 TGFBR2 TGFB2
27 bone trabecula formation GO:0060346 9.61 MMP2 FBN2
28 sequestering of TGFbeta in extracellular matrix GO:0035583 9.58 FBN2 FBN1
29 endocardial cushion fusion GO:0003274 9.58 TGFBR2 TGFB2
30 eye morphogenesis GO:0048592 9.56 COL5A2 COL5A1
31 negative regulation of endodermal cell differentiation GO:1903225 9.54 COL5A2 COL5A1
32 collagen fibril organization GO:0030199 9.5 TGFBR1 TGFB2 LOX COL5A2 COL5A1 COL3A1
33 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 10.32 TGFBR2 TGFBR1 TGFB2 PKD1 MYH11 MMP2
2 platelet-derived growth factor binding GO:0048407 9.5 COL5A1 COL3A1 COL1A2
3 activin binding GO:0048185 9.48 TGFBR2 TGFBR1
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.46 TGFBR2 TGFBR1
5 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.46 COL5A2 COL5A1 COL3A1 COL1A2
6 transforming growth factor beta-activated receptor activity GO:0005024 9.43 TGFBR2 TGFBR1
7 extracellular matrix constituent conferring elasticity GO:0030023 9.43 FBN2 FBN1 ELN
8 type II transforming growth factor beta receptor binding GO:0005114 9.4 TGFBR1 TGFB2
9 SMAD binding GO:0046332 9.35 TGFBR2 TGFBR1 COL5A2 COL3A1 COL1A2
10 extracellular matrix structural constituent GO:0005201 9.23 LTBP2 FBN2 FBN1 ELN COL5A2 COL5A1

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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