MFS
MCID: MRF001
MIFTS: 77

Marfan Syndrome (MFS)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Marfan Syndrome

MalaCards integrated aliases for Marfan Syndrome:

Name: Marfan Syndrome 57 11 19 42 58 75 73 28 12 53 5 41 43 14 36 63 38 71 31 33
Mfs 57 42 58 73
Mfs1 57 58 73
Marfan Syndrome Type 1 58 73
Marfan's Syndrome 11 42
Overlap Connective Tissue Disease 19
Marfanoid Hypermobility Syndrome 71
Contractural Arachnodactyly 19
Marfan Syndrome, Type I 57
Mass Phenotype 19
Marfan Disease 33
Mass Syndrome 19
Octd 19

Characteristics:


Inheritance:

Marfan Syndrome: Autosomal dominant 58 57
Marfan Syndrome Type 1: Autosomal dominant 58

Prevelance:

1-5/10000 (Europe, United Kingdom, United States) 1-9/100000 (United Kingdom) 58

Age Of Onset:

Marfan Syndrome: All ages 58
Marfan Syndrome Type 1: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
about 25% of cases due to new mutations


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

MedlinePlus Genetics: 42 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 loeys-dietz syndrome 2. An important gene associated with Marfan Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Perindopril and Verapamil have been mentioned in the context of this disorder. Affiliated tissues include heart, spinal cord and eye, and related phenotypes are pectus carinatum and pes planus

MedlinePlus: 41 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

OMIM®: 57 A heritable disorder of fibrous connective tissue, Marfan syndrome (MFS) 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) (Updated 08-Dec-2022)

GARD: 19 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 genetic changes 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) genetic change.

UniProtKB/Swiss-Prot: 73 A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.

PubMed Health : 63 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.

Disease Ontology: 11 A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.

Orphanet: 58 Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.

Wikipedia: 75 Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those... more...

Related Diseases for Marfan Syndrome

Diseases in the Marfan Syndrome family:

Fbn1-Related Marfan Syndrome

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

(show top 50) (show all 837)
# Related Disease Score Top Affiliating Genes
1 neonatal marfan syndrome 33.1 FBN1 DCN
2 loeys-dietz syndrome 2 33.1 TGFBR2 TGFBR1 TGFB2 FBN1
3 marfanoid-progeroid-lipodystrophy syndrome 32.5 LOC113939944 FBN1
4 ectopia lentis 1, isolated, autosomal dominant 32.2 TGFBR2 FBN1 CBS
5 contractural arachnodactyly, congenital 32.2 TGFBR2 TGFBR1 LTBP2 FBN3 FBN2 FBN1
6 achard syndrome 32.1 FBN2 FBN1
7 ectopia lentis 2, isolated, autosomal recessive 32.1 TGFBR2 FBN1 CBS
8 isolated ectopia lentis 32.0 LTBP2 FBN3 FBN2 FBN1 CBS
9 connective tissue disease 31.9 TGFBR2 MMP2 LOX FBN2 FBN1 ELN
10 aortic valve insufficiency 31.8 TGFBR2 TGFBR1 FBN2 FBN1 ELN ACTA2
11 aortic dissection 31.6 TGFBR1 TGFB2 MMP2 LOX FBN1 ELN
12 loeys-dietz syndrome 1 31.5 TGFBR2 TGFBR1 TGFB2 FBN2 FBN1
13 aortic aneurysm, familial thoracic 4 31.5 TGFBR2 TGFBR1 TGFB2 LOC113939944 FBN2 FBN1
14 pneumothorax 31.5 MMP2 FBN1 ELN
15 scoliosis 31.4 TGFBR2 TGFB2 LOX FBN3 FBN2 FBN1
16 aortic aneurysm 31.4 TGFBR2 TGFBR1 TGFB2 MMP2 LOX FBN2
17 retinal detachment 31.4 MMP2 LOX FBN1 ELN
18 vascular disease 31.3 MMP2 FBN1 ELN COL3A1 CBS BMP6
19 aortic disease 31.2 TGFBR2 TGFBR1 TGFB2 MMP2 FBN1 ELN
20 loeys-dietz syndrome 31.1 TGFBR2 TGFBR1 TGFB2 LTBP2 LOX FBN2
21 orthostatic intolerance 31.1 TGFBR2 TGFBR1 TGFB2 PKD1 LTBP2 FBN2
22 idiopathic scoliosis 31.1 FBN1 ELN COL1A2
23 lens subluxation 30.9 LTBP2 FBN2 FBN1 CBS
24 aortic aneurysm, familial thoracic 1 30.9 TGFBR2 TGFBR1 TGFB2 MMP2 LTBP2 LOX
25 subclavian artery aneurysm 30.9 TGFBR2 TGFBR1 FBN1 ELN
26 postural orthostatic tachycardia syndrome 30.9 FBN2 FBN1 AGTR1
27 myopia 30.9 TGFB2 MMP2 LTBP2 FBN1 DCN CBS
28 mitral valve disease 30.8 TGFBR2 TGFBR1 TGFB2 FBN2 FBN1 ELN
29 homocystinuria 30.8 LOX FBN1 CBS
30 cataract 30.8 TGFBR2 TGFBR1 TGFB2 MMP2 FBN1 CBS
31 hypermobile ehlers-danlos syndrome 30.8 FBN1 COL3A1
32 tricuspid valve prolapse 30.7 TGFBR2 TGFBR1 FBN2 FBN1 COL3A1
33 aortic aneurysm, familial abdominal, 1 30.7 TGFBR2 MMP2 LOX FBN1 ELN DCN
34 cutis laxa 30.7 MMP2 LOX FBN1 ELN
35 scleroderma, familial progressive 30.7 FBN1 COL1A2 BMP6
36 open-angle glaucoma 30.7 TGFB2 FBN1 ELN
37 distal arthrogryposis 30.6 FBN2 FBN1 ELN COL1A2
38 cerebral aneurysms 30.6 PKD1 ELN
39 ehlers-danlos syndrome 30.6 TGFBR2 TGFBR1 TGFB2 LOX FBN2 FBN1
40 pseudoxanthoma elasticum 30.6 MMP2 FBN1 ELN DCN
41 intraocular pressure quantitative trait locus 30.6 TGFB2 LTBP2 FBN1 ELN
42 aortic valve disease 1 30.6 TGFBR2 TGFBR1 TGFB2 MMP2 LOX FBN2
43 pulmonary fibrosis 30.5 MMP2 ELN DCN COL1A2 BMP6
44 ehlers-danlos syndrome, vascular type 30.5 FBN1 ELN COL3A1 ACTA2
45 telangiectasis 30.5 TGFBR1 FBN1 ELN BMP6
46 keratoconus 30.5 TGFB2 MMP2 LOX FBN1 ELN
47 loeys-dietz syndrome 4 30.5 TGFBR2 TGFBR1 TGFB2 FBN1 ELN
48 hereditary hemorrhagic telangiectasia 30.5 TGFBR2 TGFBR1 TGFB2 BMP6
49 weill-marchesani syndrome 30.4 LTBP2 FBN3 FBN2 FBN1 ELN
50 loeys-dietz syndrome 3 30.4 TGFBR2 TGFBR1 TGFB2 FBN1 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 30 (show top 50) (show all 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus carinatum 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000768
2 pes planus 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001763
3 striae distensae 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001065
4 arachnodactyly 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001166
5 disproportionate tall stature 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001519
6 slender build 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001533
7 spontaneous pneumothorax 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002108
8 chronic fatigue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012432
9 ascending tubular aorta aneurysm 30 Hallmark (90%) HP:0004970
10 sleep disturbance 58 30 Frequent (33%) Frequent (79-30%)
HP:0002360
11 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
12 visual impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000505
13 high, narrow palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0002705
14 myopia 58 30 Very rare (1%) Frequent (79-30%)
HP:0000545
15 pectus excavatum 58 30 Very rare (1%) Frequent (79-30%)
HP:0000767
16 mitral valve prolapse 58 30 Very rare (1%) Frequent (79-30%)
HP:0001634
17 narrow face 58 30 Frequent (33%) Frequent (79-30%)
HP:0000275
18 dental crowding 58 30 Very rare (1%) Frequent (79-30%)
HP:0000678
19 lens subluxation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001132
20 joint hypermobility 58 30 Very rare (1%) Frequent (79-30%)
HP:0001382
21 protrusio acetabuli 58 30 Very rare (1%) Frequent (79-30%)
HP:0003179
22 arthralgia/arthritis 58 30 Frequent (33%) Frequent (79-30%)
HP:0005059
23 increased axial length of the globe 58 30 Frequent (33%) Frequent (79-30%)
HP:0007800
24 lens luxation 58 30 Frequent (33%) Frequent (79-30%)
HP:0012019
25 dural ectasia 58 30 Very rare (1%) Frequent (79-30%)
HP:0100775
26 abnormal zygomatic bone morphology 30 Frequent (33%) HP:0010668
27 kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002808
28 osteopenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000938
29 hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001252
30 inguinal hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000023
31 open bite 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010807
32 skeletal muscle atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003202
33 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
34 congestive heart failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001635
35 attention deficit hyperactivity disorder 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007018
36 osteoporosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000939
37 retrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000278
38 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
39 arterial dissection 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005294
40 hemoptysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002105
41 emphysema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002097
42 myalgia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003326
43 dolichocephaly 58 30 Very rare (1%) Occasional (29-5%)
HP:0000268
44 downslanted palpebral fissures 58 30 Very rare (1%) Occasional (29-5%)
HP:0000494
45 glaucoma 58 30 Very rare (1%) Occasional (29-5%)
HP:0000501
46 retinal detachment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000541
47 meningocele 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002435
48 limited elbow movement 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002996
49 spondylolisthesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003302
50 cachexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004326

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
kyphoscoliosis
spondylolisthesis
thoracic lordosis
lumbosacral dural ectasia

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
Respiratory Lung:
pneumothorax
emphysema in most severe presentation
pulmonary blebs

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

Head And Neck Mouth:
narrow palate
high-arched palate

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

Skin Nails Hair Skin:
striae distensae
decreased subcutaneous fat

Head And Neck Head:
dolichocephaly

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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Marfan Syndrome:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.45 AGTR1 BMP6 CBS COL1A2 COL3A1 DCN
2 muscle MP:0005369 10.42 ACTA2 CBS COL1A2 COL3A1 DCN ELN
3 growth/size/body region MP:0005378 10.39 AGTR1 BMP6 CBS COL1A2 COL3A1 DCN
4 cardiovascular system MP:0005385 10.36 ACTA2 AGTR1 BMP6 CBS COL1A2 COL3A1
5 nervous system MP:0003631 10.35 AGTR1 BMP6 CBS COL1A2 FBN1 FBN2
6 renal/urinary system MP:0005367 10.26 AGTR1 CBS DCN FBN1 FBN2 LOX
7 endocrine/exocrine gland MP:0005379 10.19 BMP6 CBS DCN FBN1 KCNQ1 MMP2
8 immune system MP:0005387 10.18 AGTR1 CBS COL1A2 COL3A1 DCN FBN1
9 respiratory system MP:0005388 10.18 CBS COL3A1 DCN ELN FBN1 FBN2
10 craniofacial MP:0005382 10.16 CBS DCN FBN1 FBN2 LOX MMP2
11 digestive/alimentary MP:0005381 10.13 BMP6 COL3A1 DCN KCNQ1 MMP2 PKD1
12 skeleton MP:0005390 10.13 BMP6 CBS COL1A2 DCN ELN FBN1
13 limbs/digits/tail MP:0005371 10.08 CBS COL1A2 FBN1 FBN2 LOX PKD1
14 hematopoietic system MP:0005397 10 AGTR1 BMP6 CBS COL1A2 COL3A1 DCN
15 vision/eye MP:0005391 9.91 ACTA2 CBS COL1A2 DCN FBN2 LTBP2
16 mortality/aging MP:0010768 9.83 AGTR1 CBS COL1A2 COL3A1 DCN ELN
17 integument MP:0010771 9.4 BMP6 CBS COL1A2 COL3A1 DCN FBN1

Drugs & Therapeutics for Marfan Syndrome

PubMed Health treatment related to Marfan Syndrome: 63

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

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

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Perindopril Approved Phase 4 82834-16-0, 107133-36-8 107807
2
Verapamil Approved Phase 4 152-11-4, 52-53-9 2520
3 Adrenergic Agents Phase 4
4 Anti-Arrhythmia Agents Phase 4
5 Neurotransmitter Agents Phase 4
6 Antihypertensive Agents Phase 4
7 Vasodilator Agents Phase 4
8 Adrenergic beta-Antagonists Phase 4
9 Adrenergic beta-1 Receptor Antagonists Phase 4
10 Adrenergic Antagonists Phase 4
11 Sympatholytics Phase 4
12 Angiotensin-Converting Enzyme Inhibitors Phase 4
13 HIV Protease Inhibitors Phase 4
14
protease inhibitors Phase 4
15 Hormones Phase 4
16 Calcium, Dietary Phase 4
17 calcium channel blockers Phase 4
18
Calcium Nutraceutical Phase 4 7440-70-2 271
19
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
20
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198
21 Adrenergic beta-Agonists Phase 3
22 Adrenergic Agonists Phase 3
23 Vaccines Phase 2, Phase 3
24
Angiotensinogen Phase 3 16133225
25 Angiotensin Receptor Antagonists Phase 3
26 Angiotensin II Type 1 Receptor Blockers Phase 3
27 Giapreza Phase 3
28
Irbesartan Approved, Investigational Phase 2 138402-11-6 3749
29
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
30
Propranolol Approved, Investigational Phase 2 318-98-9, 525-66-6 62882 4946
31 Anti-Bacterial Agents Phase 2
32 Anti-Infective Agents Phase 2
33 Antiprotozoal Agents Phase 2
34 Antiparasitic Agents Phase 2
35 Antimalarials Phase 2
36
Phenylephrine Approved 59-42-7 6041
37
Tropicamide Approved, Investigational 1508-75-4 5593
38
Oxymetazoline Approved, Investigational 1491-59-4 4636
39 Anesthetics
40 Liver Extracts
41 Immunoglobulins
42 Antibodies

Interventional clinical trials:

(show all 45)
# 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 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
3 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
4 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
5 Effects of Losartan vs Atenolol on Aortic Stiffness and Diastolic Function in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
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 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
8 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
9 COvid-19 Vaccine Booster in Immunocompromised Rheumatic Diseases Recruiting NCT05236491 Phase 2, Phase 3
10 Multicenter, Randomised, Double Blind Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan Syndrome Terminated NCT00763893 Phase 3 placebo;Losartan
11 Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Withdrawn NCT01361087 Phase 3
12 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
13 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
14 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
15 Development of a Blood Test for Marfan Syndrome Unknown status NCT02148900
16 Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells Unknown status NCT02815072
17 The Oscillation of Crystalline and Intraocular Lenses: a Feasibility Study of the Lens' Movements in the Eye Unknown status NCT04274634
18 Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity Completed NCT04319107
19 Evaluation of the Effects of Personalized Training at Home Combining Endurance and Resistance in Patients Suffering From Marfan Syndrome Completed NCT04553094
20 Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome: an Interventional, Prospective, Monocentric Study. Completed NCT03236571
21 Children and Adolescents With Marfan Syndrome: 10,000 Healthy Steps and Beyond Completed NCT03567460
22 Sleep Disordered Breathing in Marfan Syndrome: Susceptibility and Hemodynamics Completed NCT03985657
23 Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome Completed NCT01760668
24 A Retrospective, Observational, Multicenter, Study to Collect Clinical Safety and Performance Data of POLYTHESE® Vascular Prostheses Completed NCT05516043
25 Thoracic Aortic Dilatation Syndromes - Diagnostic, Incidences, Morbidity, Mortality and Socioeconomical Observations. Completed NCT02111668
26 Correlations' Study Between Variability of Expression in FBN1 Gene and Clinical Features in Marfan Patients. Completed NCT01707563
27 Tele-Clinic Visits in Pediatric Marfan Patients Using Parental Echo: The Future? Completed NCT03581682
28 Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue Completed NCT00270686
29 Clinical and Molecular Manifestations of Heritable Connective Tissue Disorders Completed NCT00001641
30 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
31 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
32 Asprosin Dynamics Relating to Serum Glucose Levels Under Controlled Alteration Completed NCT03358121
33 Living With Marfan Syndrome II: the Psychosocial and Health-related Quality of Life Effects of Surgical Interventions for Aorto-vascular Manifestations (LIMA II Study) Recruiting NCT04776681
34 Living With Marfan Syndrome I: the Psychosocial and Health-related Quality of Life Effects of the Diagnosis for Aorto-vascular Manifestations (LIMA I Study) Recruiting NCT04776668
35 Evaluating the Effects of Moderate Physical Activity on Health and Well-being in Adolescents and Young Adults With Marfan Syndrome Recruiting NCT04641325
36 Constitution of a Biological Collection to Study the Pathophysiology in Marfan Syndrome and Related Syndromes and to Identify Predictive Factors of Disease Progression Recruiting NCT04970459
37 Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices Recruiting NCT02050113
38 Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease: Cross-sectional Case-control Study. Recruiting NCT05123339
39 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
40 Effect of Different Surgical Treatment of Marfan Syndrome With Subluxation Lens Active, not recruiting NCT05578469
41 Effect on the Quality of Life of a Therapeutic Education Program in Patients With Marfan Syndrome: an Observational, Prospective and Multicenter Study Active, not recruiting NCT04731493
42 Mortality and Morbidity Outcomes After Aortovascular Surgery in Patients With Marfan Syndrome: A UK Experience Not yet recruiting NCT04774172
43 A National Prospective Cohort for Pregnancies in Patients With Rare Vascular Anomalies: COGRare5 Study Not yet recruiting NCT04194619
44 An Investigation Into the Epidemiology and Surgical Intervention for Proximal Aortic Disease in Scotland Not yet recruiting NCT05389865
45 Assessment of Serum Asprosin Level in Male Patients With Acne Vulgaris Not yet recruiting NCT05471388

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 28 FBN1

Anatomical Context for Marfan Syndrome

Organs/tissues related to Marfan Syndrome:

MalaCards : Heart, Spinal Cord, Eye, Bone, Skin, Lung, Brain
ODiseA: Heart, Respiratory System-Lung, Respiratory System

Publications for Marfan Syndrome

Articles related to Marfan Syndrome:

(show top 50) (show all 7363)
# Title Authors PMID Year
1
Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome. 53 62 57 5
17568394 2007
2
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. 53 62 57 5
11175294 2001
3
Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation. 53 62 57 5
10756346 2000
4
Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample. 53 62 57 5
8750301 1995
5
Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. 53 62 57 5
8101042 1993
6
The clinical spectrum of complete FBN1 allele deletions. 62 57 5
21063442 2011
7
Marfan Database (third edition): new mutations and new routines for the software. 62 57 5
9399842 1998
8
Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome. 62 57 5
8894692 1996
9
A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype. 62 57 5
7977366 1994
10
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. 53 62 57
19996017 2009
11
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome. 53 62 5
19839986 2009
12
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 53 62 5
19533785 2009
13
Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations. 53 62 5
19159394 2009
14
Correlation of the recurrent FBN1 mutation (c.364C>T) with a unique phenotype in a Chinese patient with Marfan syndrome. 53 62 5
19089573 2008
15
FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. 53 62 5
18435798 2008
16
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. 53 62 57
18579813 2008
17
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. 53 62 5
17663468 2007
18
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. 53 62 5
17701892 2007
19
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. 53 62 5
17492313 2007
20
[Two gene mutations in fibrillin 1 of Marfan syndrome]. 53 62 5
17680538 2007
21
Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation? 53 62 5
17418587 2007
22
Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain. 53 62 5
16905551 2006
23
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. 53 62 5
16835936 2006
24
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 53 62 5
16596670 2006
25
Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome. 53 62 5
16476890 2006
26
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. 53 62 5
16220557 2005
27
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. 53 62 5
16222657 2005
28
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. 53 62 57
15776436 2005
29
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 53 62 5
15241795 2004
30
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. 53 62 5
15161917 2004
31
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. 53 62 5
14695540 2004
32
Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype? 53 62 57
12915484 2003
33
Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations. 53 62 5
12402346 2002
34
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. 53 62 5
12203992 2002
35
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. 53 62 5
11933199 2002
36
Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome. 53 62 5
11748851 2001
37
Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome. 53 62 5
11524736 2001
38
FBN1 exon 2 splicing error in a patient with Marfan syndrome. 53 62 5
11391655 2001
39
Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome. 53 62 5
11780406 2001
40
Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis. 53 62 5
11251996 2001
41
Multi-exon deletions of the FBN1 gene in Marfan syndrome. 53 62 5
11710961 2001
42
Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome. 53 62 5
11139245 2001
43
Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome. 53 62 5
10766875 2000
44
The molecular genetics of Marfan syndrome and related microfibrillopathies. 53 62 5
10633129 2000
45
Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome. 53 62 5
10721679 2000
46
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. 53 62 5
10464652 1997
47
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies. 53 62 5
9401003 1997
48
Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. 53 62 5
8941093 1996
49
Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome. 53 62 5
8863159 1996
50
Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. 53 62 57
8533811 1995

Variations for Marfan Syndrome

ClinVar genetic disease variations for Marfan Syndrome:

5 (show top 50) (show all 4038)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBN1 NM_000138.5(FBN1):c.7455_7821del DEL Pathogenic
16423 GRCh37:
GRCh38:
2 FBN1 NM_000138.5(FBN1):c.4987T>C (p.Cys1663Arg) SNV Pathogenic
16426 rs137854459 GRCh37: 15:48756174-48756174
GRCh38: 15:48463977-48463977
3 FBN1 NM_000138.5(FBN1):c.6662G>C (p.Cys2221Ser) SNV Pathogenic
16427 rs137854460 GRCh37: 15:48725140-48725140
GRCh38: 15:48432943-48432943
4 FBN1 NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr) SNV Pathogenic
16428 rs137854470 GRCh37: 15:48779622-48779622
GRCh38: 15:48487425-48487425
5 FBN1 NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr) SNV Pathogenic
Pathogenic
16429 rs137854471 GRCh37: 15:48776128-48776128
GRCh38: 15:48483931-48483931
6 FBN1 NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter) SNV Pathogenic
Pathogenic
16430 rs267606797 GRCh37: 15:48729559-48729559
GRCh38: 15:48437362-48437362
7 FBN1 NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) SNV Pathogenic
Pathogenic
16431 rs137854461 GRCh37: 15:48729223-48729223
GRCh38: 15:48437026-48437026
8 FBN1 NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile) SNV Pathogenic
16432 rs137854462 GRCh37: 15:48802312-48802312
GRCh38: 15:48510115-48510115
9 FBN1 NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr) SNV Pathogenic
16444 rs137854469 GRCh37: 15:48777615-48777615
GRCh38: 15:48485418-48485418
10 FBN1 NM_000138.5(FBN1):c.3192del (p.Glu1065fs) DEL Pathogenic
16448 rs1131692050 GRCh37: 15:48780581-48780581
GRCh38: 15:48488384-48488384
11 FBN1 NM_000138.5(FBN1):c.3793T>C (p.Cys1265Arg) SNV Pathogenic
16450 rs137854474 GRCh37: 15:48776060-48776060
GRCh38: 15:48483863-48483863
12 FBN1 NM_000138.5(FBN1):c.3037G>C (p.Gly1013Arg) SNV Pathogenic
16455 rs140593 GRCh37: 15:48782093-48782093
GRCh38: 15:48489896-48489896
13 FBN1 NM_000138.5(FBN1):c.5788+1G>A SNV Pathogenic
16456 rs1555395819 GRCh37: 15:48738902-48738902
GRCh38: 15:48446705-48446705
14 FBN1 NM_000138.5(FBN1):c.3386G>A (p.Cys1129Tyr) SNV Pathogenic
16463 rs137854482 GRCh37: 15:48779586-48779586
GRCh38: 15:48487389-48487389
15 overlap with 4 genes NC_000015.9:g.48793164_49095744del DEL Pathogenic
16467 GRCh37: 15:48793164-49095744
GRCh38: 15:48500967-48803547
16 FBN1 FBN1, EX13-49DEL DEL Pathogenic
16468 GRCh37:
GRCh38:
17 LTBP2 NM_000428.3(LTBP2):c.1642C>T (p.Arg548Ter) SNV Pathogenic
126952 rs137854855 GRCh37: 14:75017811-75017811
GRCh38: 14:74551108-74551108
18 FBN1 NM_000138.5(FBN1):c.3662G>A (p.Cys1221Tyr) SNV Pathogenic
16464 rs137854483 GRCh37: 15:48777621-48777621
GRCh38: 15:48485424-48485424
19 FBN1 NM_000138.5(FBN1):c.4253_4259del (p.Gly1418fs) DEL Pathogenic
41409 rs398122934 GRCh37: 15:48764825-48764831
GRCh38: 15:48472628-48472634
20 LOC113939944, FBN1 NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter) SNV Pathogenic
Pathogenic
42280 rs397515753 GRCh37: 15:48812952-48812952
GRCh38: 15:48520755-48520755
21 FBN1 NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter) SNV Pathogenic
42281 rs397515754 GRCh37: 15:48808515-48808515
GRCh38: 15:48516318-48516318
22 LOC113939944, FBN1 NM_000138.5(FBN1):c.1095C>A (p.Cys365Ter) SNV Pathogenic
42282 rs397515755 GRCh37: 15:48812908-48812908
GRCh38: 15:48520711-48520711
23 FBN1 NM_000138.5(FBN1):c.1148-2A>G SNV Pathogenic
Pathogenic
42283 rs397515756 GRCh37: 15:48808561-48808561
GRCh38: 15:48516364-48516364
24 FBN1 NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg) SNV Pathogenic
42301 rs397515766 GRCh37: 15:48788375-48788375
GRCh38: 15:48496178-48496178
25 FBN1 NM_000138.5(FBN1):c.2407A>T (p.Lys803Ter) SNV Pathogenic
42303 rs397515768 GRCh37: 15:48788309-48788309
GRCh38: 15:48496112-48496112
26 FBN1 NM_000138.5(FBN1):c.2412_2413del (p.Thr804_Cys805insTer) DEL Pathogenic
42304 rs397515769 GRCh37: 15:48788303-48788304
GRCh38: 15:48496106-48496107
27 FBN1 NM_000138.5(FBN1):c.2855-1G>A SNV Pathogenic
42318 rs112202622 GRCh37: 15:48782276-48782276
GRCh38: 15:48490079-48490079
28 FBN1 NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr) SNV Pathogenic
Pathogenic
42327 rs397515786 GRCh37: 15:48780609-48780609
GRCh38: 15:48488412-48488412
29 FBN1 NM_000138.5(FBN1):c.3274del (p.Asp1092fs) DEL Pathogenic
42329 rs397515788 GRCh37: 15:48780373-48780373
GRCh38: 15:48488176-48488176
30 FBN1 NM_000138.5(FBN1):c.3463+1G>T SNV Pathogenic
42336 rs397515792 GRCh37: 15:48779508-48779508
GRCh38: 15:48487311-48487311
31 FBN1 NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) SNV Pathogenic
42340 rs397515794 GRCh37: 15:48892410-48892410
GRCh38: 15:48600213-48600213
32 FBN1 NM_000138.5(FBN1):c.4367G>C (p.Cys1456Ser) SNV Pathogenic
42360 rs397515805 GRCh37: 15:48762923-48762923
GRCh38: 15:48470726-48470726
33 FBN1 NM_000138.5(FBN1):c.5066-1G>C SNV Pathogenic
42378 rs397515819 GRCh37: 15:48755438-48755438
GRCh38: 15:48463241-48463241
34 FBN1 NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr) SNV Pathogenic
Pathogenic
42376 rs397515817 GRCh37: 15:48756206-48756206
GRCh38: 15:48464009-48464009
35 FBN1 NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter) SNV Pathogenic
Pathogenic
42393 rs363807 GRCh37: 15:48737627-48737627
GRCh38: 15:48445430-48445430
36 FBN1 NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs) MICROSAT Pathogenic
42420 rs397515846 GRCh37: 15:48719800-48719801
GRCh38: 15:48427603-48427604
37 FBN1 NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter) SNV Pathogenic
42441 rs397515861 GRCh37: 15:48703536-48703536
GRCh38: 15:48411339-48411339
38 FBN1 NM_000138.5(FBN1):c.958dup (p.Tyr320fs) DUP Pathogenic
42448 rs397515867 GRCh37: 15:48818356-48818357
GRCh38: 15:48526159-48526160
39 FBN1 NM_000138.5(FBN1):c.385T>G (p.Cys129Gly) SNV Pathogenic
126960 rs199474693 GRCh37: 15:48892393-48892393
GRCh38: 15:48600196-48600196
40 FBN1 NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr) SNV Pathogenic
Pathogenic
155791 rs587782944 GRCh37: 15:48805838-48805838
GRCh38: 15:48513641-48513641
41 FBN1 NM_000138.5(FBN1):c.5783G>T (p.Cys1928Phe) SNV Pathogenic
155794 rs587782947 GRCh37: 15:48738908-48738908
GRCh38: 15:48446711-48446711
42 FBN1 NM_000138.4(FBN1):c.(?_4473)_(8280_?)del DEL Pathogenic
163457 GRCh37: 15:48703523-48760718
GRCh38: 15:48411326-48468521
43 FBN1 NM_000138.4(FBN1):c.(?_5475)_(5542_?)del DEL Pathogenic
163458 GRCh37: 15:48744762-48744829
GRCh38: 15:48452565-48452632
44 FBN1 NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter) SNV Pathogenic
177938 rs727504410 GRCh37: 15:48720654-48720654
GRCh38: 15:48428457-48428457
45 FBN1 NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter) SNV Pathogenic
177940 rs727504411 GRCh37: 15:48779315-48779315
GRCh38: 15:48487118-48487118
46 FBN1 NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs) INDEL Pathogenic
179129 rs727504651 GRCh37: 15:48703537-48703538
GRCh38: 15:48411340-48411341
47 FBN1 NM_000138.5(FBN1):c.1335dup (p.Pro446fs) DUP Pathogenic
179300 rs730880356 GRCh37: 15:48807716-48807717
GRCh38: 15:48515519-48515520
48 FBN1 NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) SNV Pathogenic
Pathogenic
179632 rs727505006 GRCh37: 15:48779599-48779599
GRCh38: 15:48487402-48487402
49 FBN1 NM_000138.5(FBN1):c.660del (p.Cys221fs) DEL Pathogenic
179992 rs727505269 GRCh37: 15:48829884-48829884
GRCh38: 15:48537687-48537687
50 FBN1 NM_000138.5(FBN1):c.5555A>G (p.Glu1852Gly) SNV Pathogenic
220855 rs864622676 GRCh37: 15:48741081-48741081
GRCh38: 15:48448884-48448884

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 rs1566935517
4 FBN1 p.Cys166Phe VAR_002279
5 FBN1 p.Cys166Ser VAR_002280 rs397515818
6 FBN1 p.Trp217Gly VAR_002281 rs193922224
7 FBN1 p.Cys476Gly VAR_002282 rs794728326
8 FBN1 p.Asp490Tyr VAR_002283 rs1555400371
9 FBN1 p.Arg545Cys VAR_002284 rs730880099
10 FBN1 p.Asn548Ile VAR_002285 rs137854462
11 FBN1 p.Cys587Tyr VAR_002286 rs1555399963
12 FBN1 p.Arg627Cys VAR_002287 rs727503057
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 rs1555399372
18 FBN1 p.Cys750Gly VAR_002293
19 FBN1 p.Cys862Arg VAR_002294
20 FBN1 p.Cys926Arg VAR_002295
21 FBN1 p.Val984Ile VAR_002296 rs747713929
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 rs1555398673
27 FBN1 p.Cys1053Arg VAR_002303
28 FBN1 p.Cys1055Gly VAR_002304 rs1597564258
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 rs794728204
39 FBN1 p.Arg1170His VAR_002318 rs137854475
40 FBN1 p.Cys1171Trp VAR_002319 rs775417975
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 rs112723282
48 FBN1 p.Cys1589Phe VAR_002327 rs1555397024
49 FBN1 p.Cys1610Gly VAR_002328
50 FBN1 p.Cys1663Arg VAR_002329 rs137854459

Copy number variations for Marfan Syndrome from CNVD:

6
# 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 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 ACTA2 BMP6 COL1A2 COL3A1 ELN FBN1
2 13.71 ACTA2 AGTR1 COL1A2 COL3A1 FBN1 LTBP2
3
Show member pathways
13.34 ACTA2 COL1A2 COL3A1 ELN FBN1 FBN2
4
Show member pathways
12.89 TGFBR1 TGFB2 LTBP2 FBN3 FBN2 FBN1
5
Show member pathways
12.55 TGFBR1 TGFB2 LTBP2 BMP6 AGTR1
6
Show member pathways
12.4 TGFBR2 TGFBR1 TGFB2 LTBP2 FBN1 COL1A2
7
Show member pathways
12.34 TGFB2 MMP2 LTBP2 LOX FBN3 FBN2
8
Show member pathways
12.17 COL1A2 COL3A1 DCN FBN1 TGFB2
9 12.14 TGFBR2 TGFBR1 TGFB2 PKD1 MMP2
10 12.13 TGFBR2 TGFBR1 TGFB2 MMP2
11
Show member pathways
11.9 TGFBR2 TGFBR1 TGFB2 LTBP2 FBN1
12
Show member pathways
11.89 TGFBR2 TGFBR1 FBN1
13 11.85 TGFB2 DCN BMP6 ACTA2
14 11.8 TGFBR2 TGFBR1 TGFB2
15 11.8 MMP2 COL1A2 ACTA2
16
Show member pathways
11.77 TGFBR2 TGFBR1 TGFB2
17 11.76 MMP2 TGFB2 TGFBR1
18 11.69 TGFBR2 TGFBR1 TGFB2 MMP2 BMP6 ACTA2
19 11.67 COL1A2 DCN ELN FBN1 MMP2 TGFB2
20
Show member pathways
11.61 TGFB2 LTBP2 LOX FBN3 FBN2 FBN1
21 11.59 MMP2 COL3A1 COL1A2
22
Show member pathways
11.58 TGFBR2 TGFBR1 TGFB2 MMP2
23 11.56 TGFBR2 TGFBR1 TGFB2 MMP2 COL1A2
24 11.55 TGFBR2 COL3A1 COL1A2
25 11.48 TGFBR2 TGFBR1 TGFB2
26 11.37 TGFBR2 FBN1 COL1A2
27 11.31 MMP2 DCN COL1A2
28 11.21 TGFBR2 TGFBR1 COL1A2 AGTR1 ACTA2
29 10.97 TGFBR2 TGFBR1 TGFB2
30 10.96 TGFBR2 TGFBR1 LOX
31 10.96 TGFB2 LTBP2 FBN3 FBN2 FBN1 ELN
32 10.94 TGFBR2 TGFBR1
33 10.89 TGFBR1 FBN1
34 10.57 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 10.37 TGFB2 MMP2 LTBP2 LOX FBN1 DCN
2 extracellular region GO:0005576 10.25 BMP6 COL1A2 COL3A1 DCN ELN FBN1
3 extracellular matrix GO:0031012 9.86 COL1A2 COL3A1 ELN FBN1 FBN2 FBN3
4 microfibril GO:0001527 9.73 FBN3 FBN2 FBN1
5 collagen-containing extracellular matrix GO:0062023 9.66 TGFB2 MMP2 LTBP2 LOX FBN3 FBN2
6 transforming growth factor beta ligand-receptor complex GO:0070021 9.62 TGFBR1 TGFBR2

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 10.17 PKD1 FBN3 FBN2 FBN1
2 skeletal system development GO:0001501 10.16 BMP6 COL1A2 FBN1 TGFB2 TGFBR1
3 extracellular matrix organization GO:0030198 10.14 MMP2 ELN COL3A1 COL1A2
4 wound healing GO:0042060 10.1 COL3A1 LOX TGFB2 TGFBR1 TGFBR2
5 cellular response to amino acid stimulus GO:0071230 10.09 MMP2 COL3A1 COL1A2
6 kidney development GO:0001822 10.06 TGFBR1 TGFB2 PKD1 FBN1 BMP6 AGTR1
7 positive regulation of epithelial to mesenchymal transition GO:0010718 10.05 TGFBR2 TGFBR1 TGFB2
8 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 10.03 TGFBR2 TGFBR1 TGFB2 BMP6
9 ventricular septum morphogenesis GO:0060412 10.01 TGFBR2 TGFBR1 TGFB2
10 digestive tract development GO:0048565 9.99 TGFBR2 PKD1 COL3A1
11 cartilage development GO:0051216 9.97 TGFBR2 PKD1 COL3A1 BMP6
12 collagen fibril organization GO:0030199 9.96 COL1A2 COL3A1 LOX TGFB2 TGFBR1
13 pathway-restricted SMAD protein phosphorylation GO:0060389 9.95 TGFBR2 TGFBR1 TGFB2
14 response to cholesterol GO:0070723 9.91 TGFBR2 TGFBR1
15 bone trabecula formation GO:0060346 9.89 MMP2 FBN2
16 membranous septum morphogenesis GO:0003149 9.88 TGFBR2 TGFB2
17 endocardial cushion fusion GO:0003274 9.85 TGFBR2 TGFB2
18 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.85 TGFBR2 TGFBR1 TGFB2
19 sequestering of TGFbeta in extracellular matrix GO:0035583 9.83 FBN2 FBN1
20 transforming growth factor beta receptor signaling pathway GO:0007179 9.73 COL1A2 COL3A1 LTBP2 TGFB2 TGFBR1 TGFBR2
21 blood vessel development GO:0001568 9.7 TGFBR2 PKD1 LOX COL3A1 COL1A2
22 heart development GO:0007507 9.58 TGFBR2 TGFBR1 TGFB2 PKD1 MMP2 LOX
23 regulation of multicellular organismal process GO:0051239 9.56 TGFBR1 TGFBR2

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

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.76 COL1A2 COL3A1 TGFBR1 TGFBR2
2 type II transforming growth factor beta receptor binding GO:0005114 9.71 TGFBR1 TGFB2
3 transforming growth factor beta receptor activity GO:0005024 9.62 TGFBR2 TGFBR1
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.54 TGFBR2 TGFBR1
5 extracellular matrix structural constituent GO:0005201 9.47 LTBP2 FBN3 FBN2 FBN1 ELN COL3A1
6 type III transforming growth factor beta receptor binding GO:0034714 9.43 TGFBR2 TGFB2
7 extracellular matrix constituent conferring elasticity GO:0030023 9.43 FBN2 FBN1 ELN

Sources for Marfan Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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