Loeys-Dietz Syndrome

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.

推出的年份: 2010

树号: C05.660.207.532, C14.907.055.050.362, C14.907.055.239.587, C14.907.109.139.587, C16.131.077.537, C16.320.510

MeSH 单一 ID: D055947

进入的组:

Loeys Dietz Syndrome
Syndrome, Loeys-Dietz
Loeys-Dietz Aortic Aneurysm Syndrome
Loeys Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Syndrome, Type 1a
Loeys Dietz Syndrome, Type 1a

早前的内容:

Aortic Aneurysm (2005-2009)
Marfan Syndrome (2005-2009)

All MeSH Categories
- Diseases Category
  - Musculoskeletal Diseases [C05]
    - Musculoskeletal Abnormalities [C05.660]
      - Craniofacial Abnormalities [C05.660.207]

All MeSH Categories
- Diseases Category
  - Cardiovascular Diseases [C14]
    - Vascular Diseases [C14.907]
      - Aneurysm [C14.907.055]
        
        Aneurysm, Dissecting [C14.907.055.050]
        
        Carotid Artery, Internal, Dissection [C14.907.055.050.150]
        
        Loeys-Dietz Syndrome [C14.907.055.050.362]
        
        Vertebral Artery Dissection [C14.907.055.050.575]

All MeSH Categories
- Diseases Category
  - 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]

All MeSH Categories
- Diseases Category
  - 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]

All MeSH Categories
- Diseases Category
  - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
    - Congenital Abnormalities [C16.131]
      - Abnormalities, Multiple [C16.131.077]

All MeSH Categories
- Diseases Category
  - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
    - Genetic Diseases, Inborn [C16.320]

MeSH 搜索器

Loeys-Dietz Syndrome

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