Details of Disease

General Information of Disease (ID: DISWN1UZ)

Disease Name Aneurysm-osteoarthritis syndrome
Synonyms
Loeys-Dietz syndrome, type 3; aneurysms-osteoarthritis syndrome; aneurysm - osteoarthritis syndrome; LDS3; Loeys-Dietz syndrome with osteoarthritis; Loeys-Dietz syndrome, type 1C (formerly); Loeys-Dietz syndrome, type 1C, formerly; Loeys-Dietz syndrome, type 1C; Loeys-Dietz syndrome 3; Loeys-Dietz syndrome type 3; aneurysm-osteoarthritis syndrome
Disease Hierarchy
DIS4FUPZ: Loeys-Dietz syndrome
DISWN1UZ: Aneurysm-osteoarthritis syndrome
Disease Identifiers
MONDO ID
MONDO_0013426
UMLS CUI
C3151087
OMIM ID
613795
MedGen ID
462437
Orphanet ID
284984

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SMAD3 TTHQZV7 Definitive Autosomal dominant [1]
SMAD3 TTHQZV7 Definitive Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SMAD3 OTNA96MR Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6.