Loeys-dietz syndrome 3

Preferred Label : Loeys-dietz syndrome 3;

Symbol : LDS3;

CISMeF acronym : LDS1C; LDS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Loeys-dietz syndrome, type 1c; Aneurysms-osteoarthritis syndrome; Loeys-dietz syndrome with osteoarthritis; LDS1C;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mothers against decapentaplegic, Drosophila, homolog of, 3 gene (SMAD3, 603109.0001);

Prefixed ID : #613795;

Details

Origin ID

613795;

UMLS CUI

C3151087;

Automatic exact mappings (from CISMeF team)
- SMAD3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Aneurysm - osteoarthritis syndrome [ICD-11 More detail]
- Aneurysm osteoarthritis syndrome (disorder) [SNOMED CT concept]
- Aneurysm-osteoarthritis syndrome [ORDO Disease]
- Loeys-Dietz Syndrome Type 3 [NCIt concept]
- Loeys-Dietz syndrome 3 [DO Concept]
DO Cross reference
- Loeys-Dietz syndrome 3 [DO Concept]
Genes related to phenotype
- Smad family member 3 [OMIM gene]
HPO term(s)
- Abdominal aortic aneurysm [HPO term]
- Abnormal sternum morphology [HPO term]
- Aortic aneurysm [HPO term]
- Aortic dissection [HPO term]
- Aortic tortuosity [HPO term]
- Arachnodactyly [HPO term]
- Arterial tortuosity [HPO term]
- Ascending aortic dissection [HPO term]
- Atrial fibrillation [HPO term]
- Atrial septal defect [HPO term]
- Atrophic scars [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Bifid uvula [HPO term]
- Bruising susceptibility [HPO term]
- Camptodactyly [HPO term]
- Cataract [HPO term]
- Cervical spine instability [HPO term]
- Chronic fatigue [HPO term]
- Cleft palate [HPO term]
- Craniosynostosis [HPO term]
- Cystocele [HPO term]
- Dental malocclusion [HPO term]
- Dermal translucency [HPO term]
- Descending aortic dissection [HPO term]
- Dilatation of the cerebral artery [HPO term]
- Dilatation of the sinus of Valsalva [HPO term]
- Disproportionate tall stature [HPO term]
- Dolichocephaly [HPO term]
- Dural ectasia [HPO term]
- Eosinophilic infiltration of the esophagus [HPO term]
- Exotropia [HPO term]
- High palate [HPO term]
- Hip osteoarthritis [HPO term]
- Hypertelorism [HPO term]
- Inguinal hernia [HPO term]
- Intervertebral disc degeneration [HPO term]
- Joint laxity [HPO term]
- Knee osteoarthritis [HPO term]
- Left ventricular hypertrophy [HPO term]
- Long face [HPO term]
- Malar flattening [HPO term]
- Migraine [HPO term]
- Mitral regurgitation [HPO term]
- Mitral valve prolapse [HPO term]
- Osteoarthritis [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus carinatum [HPO term]
- Pes planus [HPO term]
- Pneumothorax [HPO term]
- Proptosis [HPO term]
- Protrusio acetabuli [HPO term]
- Pulmonic stenosis [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Soft skin [HPO term]
- Spondylolisthesis [HPO term]
- Striae distensae [HPO term]
- Subarachnoid hemorrhage [HPO term]
- Sudden death [HPO term]
- Talipes equinovarus [HPO term]
- Thoracic aortic aneurysm [HPO term]
- Tortuous cerebral arteries [HPO term]
- Umbilical hernia [HPO term]
- Uterine prolapse [HPO term]
- Varicose veins [HPO term]
- Ventricular hypertrophy [HPO term]
Not associated HPO term(s)
- Ectopia lentis [HPO term]
ORDO concept(s)
- Aneurysm-osteoarthritis syndrome [ORDO Disease]
See also inter- (CISMeF)
- Loeys-Dietz aortic aneurysm syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aneurysm - osteoarthritis syndrome [ICD-11 More detail]
- Aneurysm-osteoarthritis syndrome [ORDO Disease]
- Loeys-Dietz Syndrome Type 3 [NCIt concept]
- Loeys-Dietz syndrome 3 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients