Loeys-dietz syndrome 2

Preferred Label : Loeys-dietz syndrome 2;

Symbol : LDS2;

CISMeF acronym : AAT3; LDS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aortic aneurysm, familial thoracic 3; Marfan syndrome, type II; AAT3;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transforming growth factor, beta receptor II, 70-80kD gene (TGFBR2, 190182.0008);

Prefixed ID : #610168;

Details

Origin ID

610168;

UMLS CUI

C2674574;

Automatic exact mappings (from CISMeF team)
- Loeys-Dietz Syndrome Type 2 [NCIt concept]
- Marfan Syndrome Type II [NCIt concept]
- marfan syndrome [MeSH Descriptor]
Broader ORDO disease(s)
- Loeys-Dietz syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Loeys-Dietz syndrome, type 1b [MeSH concept]
- Loeys-Dietz syndrome, type 1b [MeSH Supplementary Concept]
- aortic aneurysm, familial thoracic 3 [MeSH concept]
DO Cross reference
- Loeys-Dietz syndrome 2 [DO Concept]
Genes related to phenotype
- Transforming growth factor-beta receptor, type II [OMIM gene]
HPO term(s)
- Abdominal aortic aneurysm [HPO term]
- Abnormal sternum morphology [HPO term]
- Absent distal phalanges [HPO term]
- Aortic arch aneurysm [HPO term]
- Aortic root aneurysm [HPO term]
- Arachnodactyly [HPO term]
- Arterial tortuosity [HPO term]
- Ascending aortic dissection [HPO term]
- Ascending tubular aorta aneurysm [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]
- Brachydactyly [HPO term]
- Camptodactyly [HPO term]
- Carotid artery dilatation [HPO term]
- Chiari malformation [HPO term]
- Cleft palate [HPO term]
- Craniosynostosis [HPO term]
- Dermal translucency [HPO term]
- Descending aortic dissection [HPO term]
- Descending thoracic aorta aneurysm [HPO term]
- Dilatation of mesenteric artery [HPO term]
- Dilatation of the cerebral artery [HPO term]
- Dilatation of the ductus arteriosus [HPO term]
- Disproportionate tall stature [HPO term]
- Dural ectasia [HPO term]
- Eosinophilic infiltration of the esophagus [HPO term]
- Exotropia [HPO term]
- Generalized arterial tortuosity [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Joint contracture of the hand [HPO term]
- Joint laxity [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Mitral valve prolapse [HPO term]
- Osteoporosis [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Postaxial polydactyly [HPO term]
- Proptosis [HPO term]
- Protrusio acetabuli [HPO term]
- Pulmonary artery aneurysm [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Soft skin [HPO term]
- Spondylolisthesis [HPO term]
- Spontaneous pneumothorax [HPO term]
- Striae distensae [HPO term]
- Syndactyly [HPO term]
- Talipes equinovarus [HPO term]
- Umbilical hernia [HPO term]
Not associated HPO term(s)
- Ectopia lentis [HPO term]
ORDO concept(s)
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
- Loeys-Dietz syndrome [ORDO Disease]
- Marfan syndrome [ORDO Disease]
- Marfan syndrome type 2 [ORDO Disease]
See also inter- (CISMeF)
- Loeys Dietz syndrome type 2B [Disease (Nov.)]
- Loeys-Dietz syndrome 2 [DO Concept]
- aortic aneurysm, familial thoracic 3 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- aortic aneurysm, familial thoracic 3 [MeSH concept]
- aortic aneurysm, familial thoracic 3 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Loeys-Dietz syndrome [ORDO Disease]

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