Loeys-dietz syndrome 1

Preferred Label : Loeys-dietz syndrome 1;

Symbol : LDS1;

CISMeF acronym : AAT5; LDS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aortic aneurysm, familial thoracic 5; Furlong syndrome; Loeys-dietz aortic aneurysm syndrome; AAT5;

Description : The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Patients with LDS type 1 have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Patients with LDS type 2 do not have these findings, but some have a bifid uvula. The natural history of both types is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications. - Genetic Heterogeneity of Loeys-Dietz Syndrome LDS1A and LDS2A (608967) are both caused by mutation in the TGFBR1 gene; LDS1B (610168) and LDS2B (610380) are both caused by mutation in the;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transforming growth factor, beta receptor I, 53kD gene (TGFBR1, 190181.0001);

Prefixed ID : #609192;

Details

Origin ID

609192;

UMLS CUI

C4551955;

Automatic exact mappings (from CISMeF team)
- Loeys-Dietz syndrome, type 2A [MeSH Supplementary Concept]
- TGFBR1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Loeys-Dietz syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Furlong syndrome [ORDO Disease]
- Furlong syndrome [MeSH concept]
- furlong syndrome [MeSH Supplementary Concept]
DO Cross reference
- Loeys-Dietz syndrome 1 [DO Concept]
Genes related to phenotype
- Transforming growth factor-beta receptor, type I [OMIM gene]
HPO term(s)
- Abnormal sternum morphology [HPO term]
- Aortic root aneurysm [HPO term]
- Arachnodactyly [HPO term]
- Arterial tortuosity [HPO term]
- Ascending aortic dissection [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Bicuspid pulmonary valve [HPO term]
- Bifid uvula [HPO term]
- Blue sclerae [HPO term]
- Camptodactyly [HPO term]
- Cervical spine instability [HPO term]
- Chiari malformation [HPO term]
- Cleft palate [HPO term]
- Craniosynostosis [HPO term]
- Dermal translucency [HPO term]
- Descending thoracic aorta aneurysm [HPO term]
- Dilatation of the cerebral artery [HPO term]
- Dilatation of the ductus arteriosus [HPO term]
- Disproportionate tall stature [HPO term]
- Eosinophilic infiltration of the esophagus [HPO term]
- Exotropia [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Mitral valve prolapse [HPO term]
- Patent ductus arteriosus [HPO term]
- Postaxial hand polydactyly [HPO term]
- Proptosis [HPO term]
- Pulmonary artery aneurysm [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Soft skin [HPO term]
- Talipes equinovarus [HPO term]
Not associated HPO term(s)
- Ectopia lentis [HPO term]
ORDO concept(s)
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
- Furlong syndrome [ORDO Disease]
- Loeys-Dietz syndrome [ORDO Disease]
See also inter- (CISMeF)
- Aneurysm - osteoarthritis syndrome [ICD-11 More detail]
- Loeys-Dietz aortic aneurysm syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Loeys-Dietz aortic aneurysm syndrome [MeSH concept]
Validated automatic mappings to NTBT
- Loeys-Dietz syndrome [MeSH Descriptor]
- Loeys-Dietz syndrome [ORDO Disease]
- Loeys-Dietz syndrome 1 [DO Concept]

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