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Disease Loeys-Dietz Syndrome

Name Loeys-Dietz Syndrome
Synonyms AAT5 | ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ANEURYSMS-OSTEOARTHRITIS SYNDROME | AORTIC ANEURYSM, FAMILIAL THORACIC 5 | FURLONG SYNDROME | LDS1 | LDS1C, FORMERLY | LDS3 | LDS4 | LDS5 | Loeys Dietz Aortic Aneurysm Syndrome | Loeys-Dietz Aortic Aneurysm Syndrome | Loeys Dietz Syndrome | LOEYS-DIETZ SYNDROME 1 | LOEYS-DIETZ SYNDROME 3 | LOEYS-DIETZ SYNDROME 4 | LOEYS-DIETZ SYNDROME 5 | Loeys Dietz Syndrome, Type 1a | Loeys-Dietz Syndrome, Type 1a | LOEYS-DIETZ SYNDROME, TYPE 1C, FORMERLY | LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS | RIENHOFF SYNDROME | RNHF | Syndrome, Loeys-Dietz
Definition 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.
Categories Cardiovascular disease | Congenital abnormality | Genetic disease (inborn) | Musculoskeletal disease
MeSH® ID D055947
OMIM® IDs 609192 | 613795 | 614816 | 615582
External Links

Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references Loeys-Dietz Syndrome Has associated chemicals Has associated genes
2. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Vascular Diseases Has associated chemicals Has associated genes Has associated exposure references Aneurysm Has associated chemicals Has associated genes Aneurysm, Dissecting Has associated chemicals Has associated genes Loeys-Dietz Syndrome Has associated chemicals Has associated genes
3. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Vascular Diseases Has associated chemicals Has associated genes Has associated exposure references Aneurysm Has associated chemicals Has associated genes Aortic Aneurysm Has associated chemicals Has associated genes Loeys-Dietz Syndrome Has associated chemicals Has associated genes
4. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Vascular Diseases Has associated chemicals Has associated genes Has associated exposure references Aortic Diseases Has associated chemicals Has associated genes Aortic Aneurysm Has associated chemicals Has associated genes Loeys-Dietz Syndrome Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Loeys-Dietz Syndrome Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Loeys-Dietz Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Loeys-Dietz Syndrome Has associated chemicals Has associated genes
View node Aortic aneurysm, familial thoracic 3 Has associated chemicals Has associated genes
  Ascending aortic aneurysm, hypertelorism, bifid uvula, cleft palate, and arterial tortuosity
  Loeys-Dietz Syndrome, Type 1b
  Loeys-Dietz Syndrome, Type 2A