Details of Disease

General Information of Disease (ID: DISWC4XA)

Disease Name Rienhoff syndrome
Synonyms Loeys-Dietz syndrome 5; LDS5; Rienhoff syndrome; Loeys-Dietz syndrome type 5
Definition
Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.
Disease Hierarchy
DIS4FUPZ: Loeys-Dietz syndrome
DIS5PU87: Skeletal system disorder
DISWC4XA: Rienhoff syndrome
Disease Identifiers
MONDO ID
MONDO_0014262
UMLS CUI
C3810012
OMIM ID
615582
MedGen ID
816342

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TGFB3 TTWOMY8 Strong Biomarker [1]
TGFB3 TTWOMY8 Definitive Autosomal dominant [2]
TGFBR2 TTZE3P7 Definitive Autosomal dominant [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TGFB3 OT2LOUQ1 Definitive Autosomal dominant [2]
TGFBR2 OT3P7GZP Definitive Autosomal dominant [3]
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References

1 Mutations in a TGF- ligand, TGFB3, cause syndromic aortic aneurysms and dissections.J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040.
2 De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. Am J Med Genet A. 2014 Aug;164A(8):2141-3. doi: 10.1002/ajmg.a.36593. Epub 2014 May 5.
3 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.