Loeys-dietz syndrome 4

Preferred Label : Loeys-dietz syndrome 4;

Symbol : LDS4;

CISMeF acronym : LDS4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the beta-2 transforming growth factor gene (TGFB2, 190220.0001);

Prefixed ID : #614816;

Details

Origin ID

614816;

UMLS CUI

C3553762;

Automatic exact mappings (from CISMeF team)
- Transforming Growth Factor Beta 2 Measurement [NCIt concept]
Currated CISMeF NLP mapping
- Loeys-Dietz syndrome 4 [DO Concept]
DO Cross reference
- Loeys-Dietz syndrome 4 [DO Concept]
Genes related to phenotype
- Transforming growth factor, beta-2 [OMIM gene]
HPO term(s)
- Abnormal sternum morphology [HPO term]
- Aortic dissection [HPO term]
- Aortic root aneurysm [HPO term]
- Aortic tortuosity [HPO term]
- Arachnodactyly [HPO term]
- Arterial tortuosity [HPO term]
- Ascending tubular aorta aneurysm [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Bifid uvula [HPO term]
- Broad uvula [HPO term]
- Bruising susceptibility [HPO term]
- Chronic pain [HPO term]
- Deeply set eye [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dural ectasia [HPO term]
- Emphysema [HPO term]
- Eosinophilic infiltration of the esophagus [HPO term]
- Flat cornea [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- Hyperextensible skin [HPO term]
- Hypertelorism [HPO term]
- Inguinal hernia [HPO term]
- Joint hyperflexibility [HPO term]
- Joint laxity [HPO term]
- Mitral valve prolapse [HPO term]
- Pes planus [HPO term]
- Pneumothorax [HPO term]
- Protrusio acetabuli [HPO term]
- Ptosis [HPO term]
- Recurrent thrombophlebitis [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Spondylolisthesis [HPO term]
- Striae distensae [HPO term]
- Talipes equinovarus [HPO term]
- Tall stature [HPO term]
- Torticollis [HPO term]
Not associated HPO term(s)
- Cutis laxa [HPO term]
- Ectopia lentis [HPO term]
ORDO concept(s)
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
See also inter- (CISMeF)
- TGFB2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Loeys-Dietz syndrome 4 [DO Concept]

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