Marfan Syndrome [Marfanův syndrom]

topical
105
Terms

Marfanův syndrom typ II
Marfanův syndrom typu 1
Marfanův syndrom typu 2
Marfanův syndrom typu I
Marfanův syndrom typu II
Marfanův syndrom, typ 1
Marfanův syndrom, typ 2
Marfanův syndrom, typ I

 

Marfan Like Connective Tissue Disorder
Marfan Syndrome Type 1
Marfan Syndrome Type 2
Marfan Syndrome, Type I
Marfan Syndrome, Type II
Marfan's Syndrome

Persistent link   https://www.medvik.cz/link/D008382
Definition

An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.

DUI
D008382 MeSH Browser
CUI
M0013029
History note
1985; use ARACHNODACTYLY 1963-1984
Public note
1985; see ARACHNODACTYLY 1963-1984

Allowable subheadings

BL
blood 1
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 1
CO
complications 26
DI
diagnosis 33
DG
diagnostic imaging 2
DH
diet therapy
DT
drug therapy 3
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology 6
GE
genetics 23
HI
history
IM
immunology
ME
metabolism 1
MI
microbiology
MO
mortality 1
NU
nursing 1
PS
parasitology
PA
pathology 9
PP
physiopathology 5
PC
prevention & control 1
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery 8
TH
therapy 11
UR
urine
VE
veterinary
VI
virology

C Diseases
C05 Musculoskeletal Diseases 1 120
C05.116 Bone Diseases 792
C05.116.099 Bone Diseases, Developmental 291
C05.116.099.052 Acro-Osteolysis 3
C05.116.099.105 Basal Cell Nevus Syndrome 33
C05.116.099.343 Dwarfism 97
C05.116.099.370 Dysostoses 22
C05.116.099.386 Funnel Chest 38
C05.116.099.492 Gigantism 14
C05.116.099.655 Leg Length Inequality 118
C05.116.099.674 Marfan Syndrome 105
C05.116.099.708 Osteochondrodysplasias 123
C05.116.099.736 Osteolysis, Essential 8
C05.116.099.739 Pectus Carinatum 1
C05.116.099.742 Platybasia 12
C05.116.099.750 Proteus Syndrome 8
C14 Cardiovascular Diseases 10 507
C14.240 Cardiovascular Abnormalities 91
C14.240.400 Heart Defects, Congenital 1 559
C14.240.400.021 22q11 Deletion Syndrome 2
C14.240.400.044 Alagille Syndrome 19
C14.240.400.090 Aortic Coarctation 202
C14.240.400.118 Aortico-Ventricular Tunnel 1
C14.240.400.145 Arrhythmogenic Right Ventricular Dysplasia 60
C14.240.400.172 Barth Syndrome 6
C14.240.400.186 Bicuspid Aortic Valve Disease 17
C14.240.400.200 Cor Triatriatum 3
C14.240.400.210 Coronary Vessel Anomalies 118
C14.240.400.220 Crisscross Heart 1
C14.240.400.280 Dextrocardia 21
C14.240.400.340 Ductus Arteriosus, Patent 108
C14.240.400.395 Ebstein Anomaly 46
C14.240.400.422 Ectopia Cordis 1
C14.240.400.450 Eisenmenger Complex 23
C14.240.400.560 Heart Septal Defects 164
C14.240.400.592 Heterotaxy Syndrome 7
C14.240.400.625 Hypoplastic Left Heart Syndrome 34
C14.240.400.660 Isolated Noncompaction of the Ventricular Myocardium 11
C14.240.400.695 LEOPARD Syndrome 11
C14.240.400.701 Levocardia 2
C14.240.400.725 Marfan Syndrome 105
C14.240.400.787 Noonan Syndrome 52
C14.240.400.818 Quadricuspid Aortic Valve
C14.240.400.849 Tetralogy of Fallot 163
C14.240.400.915 Transposition of Great Vessels 109
C14.240.400.920 Tricuspid Atresia 10
C14.240.400.960 Trilogy of Fallot 2
C14.240.400.970 Trisomy 13 Syndrome 6
C14.240.400.975 Trisomy 18 Syndrome 5
C14.240.400.980 Turner Syndrome 272
C14.240.400.990 Univentricular Heart 3
C14.280 Heart Diseases 2 867
C14.280.400 Heart Defects, Congenital 1 559
C14.280.400.044 22q11 Deletion Syndrome 2
C14.280.400.090 Aortic Coarctation 202
C14.280.400.118 Aortico-Ventricular Tunnel 1
C14.280.400.145 Arrhythmogenic Right Ventricular Dysplasia 60
C14.280.400.172 Barth Syndrome 6
C14.280.400.186 Bicuspid Aortic Valve Disease 17
C14.280.400.200 Cor Triatriatum 3
C14.280.400.210 Coronary Vessel Anomalies 118
C14.280.400.220 Crisscross Heart 1
C14.280.400.280 Dextrocardia 21
C14.280.400.340 Ductus Arteriosus, Patent 108
C14.280.400.395 Ebstein Anomaly 46
C14.280.400.450 Eisenmenger Complex 23
C14.280.400.560 Heart Septal Defects 164
C14.280.400.592 Heterotaxy Syndrome 7
C14.280.400.625 Hypoplastic Left Heart Syndrome 34
C14.280.400.660 Isolated Noncompaction of the Ventricular Myocardium 11
C14.280.400.695 LEOPARD Syndrome 11
C14.280.400.701 Levocardia 2
C14.280.400.725 Marfan Syndrome 105
C14.280.400.787 Noonan Syndrome 52
C14.280.400.818 Quadricuspid Aortic Valve
C14.280.400.849 Tetralogy of Fallot 163
C14.280.400.915 Transposition of Great Vessels 109
C14.280.400.920 Tricuspid Atresia 10
C14.280.400.960 Trilogy of Fallot 2
C14.280.400.970 Trisomy 13 Syndrome 6
C14.280.400.975 Trisomy 18 Syndrome 5
C14.280.400.980 Turner Syndrome 272
C14.280.400.990 Univentricular Heart 3
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 741
C16.131.077 Abnormalities, Multiple 330
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.065 Alagille Syndrome 19
C16.131.077.095 Angelman Syndrome 35
C16.131.077.121 Barth Syndrome 6
C16.131.077.130 Basal Cell Nevus Syndrome 33
C16.131.077.133 Beckwith-Wiedemann Syndrome 17
C16.131.077.137 Bloom Syndrome 11
C16.131.077.208 Branchio-Oto-Renal Syndrome 5
C16.131.077.229 Carney Complex 8
C16.131.077.245 Ciliopathies 9
C16.131.077.250 Cockayne Syndrome 4
C16.131.077.256 Costello Syndrome 3
C16.131.077.262 Cri-du-Chat Syndrome 11
C16.131.077.272 De Lange Syndrome 4
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.313 Donohue Syndrome 1
C16.131.077.327 Down Syndrome 510
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.371 Fraser Syndrome 2
C16.131.077.393 Gardner Syndrome 20
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 8
C16.131.077.445 Incontinentia Pigmenti 19
C16.131.077.477 Isolated Noncompaction of the Ventricular Myocardium 11
C16.131.077.509 Laurence-Moon Syndrome 6
C16.131.077.525 LEOPARD Syndrome 11
C16.131.077.537 Loeys-Dietz Syndrome 7
C16.131.077.550 Marfan Syndrome 105
C16.131.077.578 Mobius Syndrome 10
C16.131.077.592 Monilethrix 1
C16.131.077.606 Nail-Patella Syndrome 8
C16.131.077.619 Netherton Syndrome 2
C16.131.077.633 Nevus, Sebaceous of Jadassohn 7
C16.131.077.662 Oculocerebrorenal Syndrome 9
C16.131.077.676 Orofaciodigital Syndromes 7
C16.131.077.690 Pallister-Hall Syndrome
C16.131.077.696 Pentalogy of Cantrell 1
C16.131.077.703 POEMS Syndrome 35
C16.131.077.717 Polycystic Kidney Diseases 82
C16.131.077.730 Prader-Willi Syndrome 92
C16.131.077.735 Prolidase Deficiency
C16.131.077.740 Proteus Syndrome 8
C16.131.077.745 Prune Belly Syndrome 3
C16.131.077.790 Rubella Syndrome, Congenital 20
C16.131.077.804 Rubinstein-Taybi Syndrome 12
C16.131.077.850 Short Rib-Polydactyly Syndrome 3
C16.131.077.855 Silver-Russell Syndrome 3
C16.131.077.860 Smith-Lemli-Opitz Syndrome 30
C16.131.077.879 Smith-Magenis Syndrome 2
C16.131.077.889 Sotos Syndrome 4
C16.131.077.899 Trichothiodystrophy Syndromes 1
C16.131.077.919 Trisomy 13 Syndrome 6
C16.131.077.929 Trisomy 18 Syndrome 5
C16.131.077.938 Waardenburg Syndrome 10
C16.131.077.941 Weill-Marchesani Syndrome 1
C16.131.077.944 Wolf-Hirschhorn Syndrome
C16.131.077.970 Zellweger Syndrome 10
C16.131.240 Cardiovascular Abnormalities 91
C16.131.240.400 Heart Defects, Congenital 1 559
C16.131.240.400.021 22q11 Deletion Syndrome 2
C16.131.240.400.044 Alagille Syndrome 19
C16.131.240.400.090 Aortic Coarctation 202
C16.131.240.400.118 Aortico-Ventricular Tunnel 1
C16.131.240.400.145 Arrhythmogenic Right Ventricular Dysplasia 60
C16.131.240.400.172 Barth Syndrome 6
C16.131.240.400.186 Bicuspid Aortic Valve Disease 17
C16.131.240.400.200 Cor Triatriatum 3
C16.131.240.400.210 Coronary Vessel Anomalies 118
C16.131.240.400.220 Crisscross Heart 1
C16.131.240.400.280 Dextrocardia 21
C16.131.240.400.340 Ductus Arteriosus, Patent 108
C16.131.240.400.395 Ebstein Anomaly 46
C16.131.240.400.422 Ectopia Cordis 1
C16.131.240.400.450 Eisenmenger Complex 23
C16.131.240.400.560 Heart Septal Defects 164
C16.131.240.400.592 Heterotaxy Syndrome 7
C16.131.240.400.625 Hypoplastic Left Heart Syndrome 34
C16.131.240.400.655 Isolated Noncompaction of the Ventricular Myocardium 11
C16.131.240.400.685 LEOPARD Syndrome 11
C16.131.240.400.701 Levocardia 2
C16.131.240.400.715 Long QT Syndrome 217
C16.131.240.400.720 Marfan Syndrome 105
C16.131.240.400.784 Noonan Syndrome 52
C16.131.240.400.817 Quadricuspid Aortic Valve
C16.131.240.400.849 Tetralogy of Fallot 163
C16.131.240.400.915 Transposition of Great Vessels 109
C16.131.240.400.920 Tricuspid Atresia 10
C16.131.240.400.960 Trilogy of Fallot 2
C16.131.240.400.965 Trisomy 13 Syndrome 6
C16.131.240.400.968 Trisomy 18 Syndrome 5
C16.131.240.400.970 Turner Syndrome 272
C16.131.240.400.975 Univentricular Heart 3
C16.131.240.400.980 Wolff-Parkinson-White Syndrome 85
C16.320 Genetic Diseases, Inborn 1 213
C16.320.033 Adrenal Hyperplasia, Congenital 225
C16.320.051 Alagille Syndrome 19
C16.320.060 alpha 1-Antitrypsin Deficiency 83
C16.320.070 Anemia, Hemolytic, Congenital 48
C16.320.077 Anemia, Hypoplastic, Congenital 3
C16.320.080 Ataxia Telangiectasia 47
C16.320.089 Autoimmune Lymphoproliferative Syndrome 2
C16.320.099 Blood Coagulation Disorders, Inherited 61
C16.320.100 Brugada Syndrome 40
C16.320.129 CADASIL 8
C16.320.144 Camurati-Engelmann Syndrome 6
C16.320.160 Cardiomyopathy, Hypertrophic, Familial 32
C16.320.165 CHARGE Syndrome 1
C16.320.170 Cherubism 1
C16.320.180 Chromosome Disorders 259
C16.320.184 Ciliopathies 9
C16.320.188 Costello Syndrome 3
C16.320.190 Cystic Fibrosis 1 328
C16.320.215 Donohue Syndrome 1
C16.320.240 Dwarfism 97
C16.320.290 Eye Diseases, Hereditary 57
C16.320.298 Familial Multiple Lipomatosis
C16.320.306 Frasier Syndrome
C16.320.314 GATA2 Deficiency 1
C16.320.322 Genetic Diseases, X-Linked 59
C16.320.338 Genetic Diseases, Y-Linked 1
C16.320.355 Hajdu-Cheney Syndrome 6
C16.320.365 Hemoglobinopathies 68
C16.320.382 Hereditary Autoinflammatory Diseases 46
C16.320.400 Heredodegenerative Disorders, Nervous System 45
C16.320.413 Hyper-IgM Immunodeficiency Syndrome 4
C16.320.427 Hyperthyroxinemia, Familial Dysalbuminemic 1
C16.320.447 Imprinting Disorders
C16.320.467 Kallmann Syndrome 10
C16.320.480 Kartagener Syndrome 46
C16.320.488 Laminopathies 2
C16.320.495 Lennox Gastaut Syndrome 5
C16.320.510 Loeys-Dietz Syndrome 7
C16.320.540 Marfan Syndrome 105
C16.320.565 Metabolism, Inborn Errors 711
C16.320.577 Muscular Dystrophies 140
C16.320.590 Myasthenic Syndromes, Congenital 20
C16.320.600 Nail-Patella Syndrome 8
C16.320.700 Neoplastic Syndromes, Hereditary 143
C16.320.709 Oculocerebrorenal Syndrome 9
C16.320.714 Orofaciodigital Syndromes 7
C16.320.718 Osteoarthropathy, Primary Hypertrophic 127
C16.320.728 Osteochondrodysplasias 123
C16.320.737 Osteogenesis Imperfecta 106
C16.320.775 Pain Insensitivity, Congenital 10
C16.320.784 Pelger-Huet Anomaly 7
C16.320.798 Primary Immunodeficiency Diseases 46
C16.320.812 Pycnodysostosis 2
C16.320.831 Renal Tubular Transport, Inborn Errors 36
C16.320.850 Skin Diseases, Genetic 89
C16.320.925 Werner Syndrome 14
C16.320.962 Yellow Nail Syndrome
C17 Skin and Connective Tissue Diseases 32
C17.300 Connective Tissue Diseases 281
C17.300.116 Anetoderma 5
C17.300.182 Cartilage Diseases 140
C17.300.185 Cellulitis 132
C17.300.200 Collagen Diseases 183
C17.300.230 Cutis Laxa 10
C17.300.250 Dermatomyositis 239
C17.300.270 Dupuytren Contracture 61
C17.300.349 Fibromatosis, Plantar
C17.300.428 Homocystinuria 107
C17.300.451 Lipedema 20
C17.300.475 Lupus Erythematosus, Cutaneous 76
C17.300.480 Lupus Erythematosus, Systemic 1 091
C17.300.500 Marfan Syndrome 105
C17.300.540 Mixed Connective Tissue Disease 22
C17.300.550 Mucinoses 17
C17.300.680 Neoplasms, Connective Tissue 122
C17.300.690 Noonan Syndrome 52
C17.300.705 Osteopoikilosis 6
C17.300.710 Panniculitis 42
C17.300.715 Penile Induration 48
C17.300.766 Pseudoxanthoma Elasticum 13
C17.300.775 Rheumatic Diseases 2 175
C17.300.787 Scleroderma, Localized 61
C17.300.799 Scleroderma, Systemic 483
C17.300.849 Undifferentiated Connective Tissue Diseases 3
C17.300.899 Weill-Marchesani Syndrome 1

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