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Loeys-Dietz Syndrome
MeSH Descriptor Data 2025
Details
Qualifiers
MeSH Tree Structures
Concepts
MeSH Heading
Loeys-Dietz Syndrome
Tree Number(s)
C05.660.207.532
C14.907.055.239.587
C14.907.109.139.587
C16.131.077.537
C16.320.510
Unique ID
D055947
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D055947
Scope Note
An autosomal dominant aneurysm with multisystem abnormalities caused by increased
TGF-BETA
signaling due to mutations in type I or II of
TGF-BETA RECEPTOR
. Additional craniofacial features include
CLEFT PALATE
;
CRANIOSYNOSTOSIS
;
HYPERTELORISM
; or bifid uvula. Phenotypes closely resemble
MARFAN SYNDROME
; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and
EHLERS-DANLOS SYNDROME
.
Entry Term(s)
Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Syndrome, Type 1a
Previous Indexing
Aortic Aneurysm (2005-2009)
Marfan Syndrome (2005-2009)
See Also
Ehlers-Danlos Syndrome
Marfan Syndrome
Public MeSH Note
2010
History Note
2010
Date Established
2010/01/01
Date of Entry
2009/07/06
Revision Date
2022/07/12
Allowable Qualifiers
blood (BL)
cerebrospinal fluid (CF)
chemically induced (CI)
classification (CL)
complications (CO)
diagnosis (DI)
diagnostic imaging (DG)
diet therapy (DH)
drug therapy (DT)
economics (EC)
embryology (EM)
enzymology (EN)
epidemiology (EP)
ethnology (EH)
etiology (ET)
genetics (GE)
history (HI)
immunology (IM)
metabolism (ME)
microbiology (MI)
mortality (MO)
nursing (NU)
parasitology (PS)
pathology (PA)
physiopathology (PP)
prevention & control (PC)
psychology (PX)
radiotherapy (RT)
rehabilitation (RH)
surgery (SU)
therapy (TH)
urine (UR)
veterinary (VE)
virology (VI)
Musculoskeletal Diseases [C05]
Musculoskeletal Abnormalities [C05.660]
Craniofacial Abnormalities [C05.660.207]
22q11 Deletion Syndrome [C05.660.207.103]
Cleidocranial Dysplasia [C05.660.207.207]
Costello Syndrome [C05.660.207.219]
Craniofacial Dysostosis [C05.660.207.231]
Craniosynostoses [C05.660.207.240]
Donohue Syndrome [C05.660.207.325]
Holoprosencephaly [C05.660.207.410]
LEOPARD Syndrome [C05.660.207.525]
Loeys-Dietz Syndrome [C05.660.207.532]
Megalencephaly [C05.660.207.536]
Maxillofacial Abnormalities [C05.660.207.540]
Microcephaly [C05.660.207.620]
Noonan Syndrome [C05.660.207.690]
Orofaciodigital Syndromes [C05.660.207.700]
Plagiocephaly [C05.660.207.707]
Platybasia [C05.660.207.720]
Rubinstein-Taybi Syndrome [C05.660.207.850]
Silver-Russell Syndrome [C05.660.207.925]
Cardiovascular Diseases [C14]
Vascular Diseases [C14.907]
Aneurysm [C14.907.055]
Aortic Aneurysm [C14.907.055.239]
Aortic Aneurysm, Abdominal [C14.907.055.239.075]
Aortic Aneurysm, Thoracic [C14.907.055.239.125]
Aortic Rupture [C14.907.055.239.175]
Loeys-Dietz Syndrome [C14.907.055.239.587]
Cardiovascular Diseases [C14]
Vascular Diseases [C14.907]
Aortic Diseases [C14.907.109]
Aortic Aneurysm [C14.907.109.139]
Aortic Aneurysm, Abdominal [C14.907.109.139.075]
Aortic Aneurysm, Thoracic [C14.907.109.139.125]
Aortic Rupture [C14.907.109.139.175]
Loeys-Dietz Syndrome [C14.907.109.139.587]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
22q11 Deletion Syndrome [C16.131.077.019]
Alagille Syndrome [C16.131.077.065]
Angelman Syndrome [C16.131.077.095]
Barth Syndrome [C16.131.077.121]
Basal Cell Nevus Syndrome [C16.131.077.130]
Beckwith-Wiedemann Syndrome [C16.131.077.133]
Bloom Syndrome [C16.131.077.137]
Branchio-Oto-Renal Syndrome [C16.131.077.208]
Carney Complex [C16.131.077.229]
Ciliopathies [C16.131.077.245]
Cockayne Syndrome [C16.131.077.250]
Costello Syndrome [C16.131.077.256]
Cri-du-Chat Syndrome [C16.131.077.262]
De Lange Syndrome [C16.131.077.272]
Deaf-Blind Disorders [C16.131.077.299]
Donohue Syndrome [C16.131.077.313]
Down Syndrome [C16.131.077.327]
Ectodermal Dysplasia [C16.131.077.350]
Fraser Syndrome [C16.131.077.371]
Gardner Syndrome [C16.131.077.393]
Heterotaxy Syndrome [C16.131.077.401]
Holoprosencephaly [C16.131.077.410]
Incontinentia Pigmenti [C16.131.077.445]
Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477]
Laurence-Moon Syndrome [C16.131.077.509]
LEOPARD Syndrome [C16.131.077.525]
Loeys-Dietz Syndrome [C16.131.077.537]
Marfan Syndrome [C16.131.077.550]
Mobius Syndrome [C16.131.077.578]
Monilethrix [C16.131.077.592]
Nail-Patella Syndrome [C16.131.077.606]
Netherton Syndrome [C16.131.077.619]
Nevus, Sebaceous of Jadassohn [C16.131.077.633]
Oculocerebrorenal Syndrome [C16.131.077.662]
Orofaciodigital Syndromes [C16.131.077.676]
Pallister-Hall Syndrome [C16.131.077.690]
Pentalogy of Cantrell [C16.131.077.696]
POEMS Syndrome [C16.131.077.703]
Polycystic Kidney Diseases [C16.131.077.717]
Prader-Willi Syndrome [C16.131.077.730]
Prolidase Deficiency [C16.131.077.735]
Proteus Syndrome [C16.131.077.740]
Prune Belly Syndrome [C16.131.077.745]
Rubella Syndrome, Congenital [C16.131.077.790]
Rubinstein-Taybi Syndrome [C16.131.077.804]
Short Rib-Polydactyly Syndrome [C16.131.077.850]
Silver-Russell Syndrome [C16.131.077.855]
Smith-Lemli-Opitz Syndrome [C16.131.077.860]
Smith-Magenis Syndrome [C16.131.077.879]
Sotos Syndrome [C16.131.077.889]
Trichothiodystrophy Syndromes [C16.131.077.899]
Trisomy 13 Syndrome [C16.131.077.919]
Trisomy 18 Syndrome [C16.131.077.929]
Waardenburg Syndrome [C16.131.077.938]
Weill-Marchesani Syndrome [C16.131.077.941]
Wolf-Hirschhorn Syndrome [C16.131.077.944]
Zellweger Syndrome [C16.131.077.970]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Adrenal Hyperplasia, Congenital [C16.320.033]
Alagille Syndrome [C16.320.051]
alpha 1-Antitrypsin Deficiency [C16.320.060]
Anemia, Hemolytic, Congenital [C16.320.070]
Anemia, Hypoplastic, Congenital [C16.320.077]
Ataxia Telangiectasia [C16.320.080]
Autoimmune Lymphoproliferative Syndrome [C16.320.089]
Blood Coagulation Disorders, Inherited [C16.320.099]
Brugada Syndrome [C16.320.100]
CADASIL [C16.320.129]
Camurati-Engelmann Syndrome [C16.320.144]
Cardiomyopathy, Hypertrophic, Familial [C16.320.160]
CHARGE Syndrome [C16.320.165]
Cherubism [C16.320.170]
Chromosome Disorders [C16.320.180]
Ciliopathies [C16.320.184]
Costello Syndrome [C16.320.188]
Cystic Fibrosis [C16.320.190]
Donohue Syndrome [C16.320.215]
Dwarfism [C16.320.240]
Eye Diseases, Hereditary [C16.320.290]
Familial Multiple Lipomatosis [C16.320.298]
Frasier Syndrome [C16.320.306]
GATA2 Deficiency [C16.320.314]
Genetic Diseases, X-Linked [C16.320.322]
Genetic Diseases, Y-Linked [C16.320.338]
Hajdu-Cheney Syndrome [C16.320.355]
Hemoglobinopathies [C16.320.365]
Hereditary Autoinflammatory Diseases [C16.320.382]
Heredodegenerative Disorders, Nervous System [C16.320.400]
Hyper-IgM Immunodeficiency Syndrome [C16.320.413]
Hyperthyroxinemia, Familial Dysalbuminemic [C16.320.427]
Imprinting Disorders [C16.320.447]
Kallmann Syndrome [C16.320.467]
Kartagener Syndrome [C16.320.480]
Laminopathies [C16.320.488]
Lennox Gastaut Syndrome [C16.320.495]
Loeys-Dietz Syndrome [C16.320.510]
Marfan Syndrome [C16.320.540]
Metabolism, Inborn Errors [C16.320.565]
Muscular Dystrophies [C16.320.577]
Myasthenic Syndromes, Congenital [C16.320.590]
Nail-Patella Syndrome [C16.320.600]
Neoplastic Syndromes, Hereditary [C16.320.700]
Oculocerebrorenal Syndrome [C16.320.709]
Orofaciodigital Syndromes [C16.320.714]
Osteoarthropathy, Primary Hypertrophic [C16.320.718]
Osteochondrodysplasias [C16.320.728]
Osteogenesis Imperfecta [C16.320.737]
Pain Insensitivity, Congenital [C16.320.775]
Pelger-Huet Anomaly [C16.320.784]
Primary Immunodeficiency Diseases [C16.320.798]
Pycnodysostosis [C16.320.812]
Renal Tubular Transport, Inborn Errors [C16.320.831]
Skin Diseases, Genetic [C16.320.850]
Werner Syndrome [C16.320.925]
Yellow Nail Syndrome [C16.320.962]
Expand All
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Loeys-Dietz Syndrome
Preferred
Concept UI
M0523270
Scope Note
An autosomal dominant aneurysm with multisystem abnormalities caused by increased
TGF-BETA
signaling due to mutations in type I or II of
TGF-BETA RECEPTOR
. Additional craniofacial features include
CLEFT PALATE
;
CRANIOSYNOSTOSIS
;
HYPERTELORISM
; or bifid uvula. Phenotypes closely resemble
MARFAN SYNDROME
; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and
EHLERS-DANLOS SYNDROME
.
Terms
Loeys-Dietz Syndrome
Preferred Term
Term UI
T723042
Date
07/24/2008
LexicalTag
EPO
ThesaurusID
Loeys-Dietz Aortic Aneurysm Syndrome
Related
Concept UI
M0525542
Scope Note
Loeys-Dietz Syndrome with aortic aneurysm or dissection.
Terms
Loeys-Dietz Aortic Aneurysm Syndrome
Preferred Term
Term UI
T728029
Date
10/03/2008
LexicalTag
EPO
ThesaurusID
Loeys-Dietz Syndrome, Type 1a
Narrower
Concept UI
M000644440
Terms
Loeys-Dietz Syndrome, Type 1a
Preferred Term
Term UI
T812636
Date
11/15/2011
LexicalTag
EPO
ThesaurusID
OMIM (2013)
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