Loeys-dietz syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
LOEYS-DIETZ SYNDROME
C269793260030MONDO:0018954
COL3A1 Unknown — Disgenet
COL5A1 Unknown — Disgenet
COL5A2 Unknown — Disgenet
FBN2 Unknown — Disgenet
IPO8 Unknown
34010605
Disgenet, Orphanet
MYH11 Unknown — Disgenet
MYLK Unknown — Disgenet
SMAD2 Unknown
29392890 31000321
Disgenet, GenCC, Orphanet
LOEYS-DIETZ SYNDROME 3
613795C3151087
SMAD3 Unknown
21217753 29392890
Disgenet, HPO
SMAD6 Unknown — Disgenet
LOEYS-DIETZ SYNDROME 4
C3553762
TGFB3 Unknown — Disgenet
LOEYS-DIETZ SYNDROME 5
615582
TGFB3 Unknown
24798638
HPO
LOEYS-DIETZ SYNDROME, TYPE 1A
C4551955
SMAD2 Unknown
29392890 29707331 26247899
Disgenet
TGFBR1 Unknown
15731757 16596670 16791849 16928994 18070134
Disgenet, ClinGen
TGFBR2 Unknown
15235604 15731757 16027248 16928994 32528524 33235621
Disgenet
All16 Causal8 Unknown13
Related Diseases Diseases that share the most curated genes with Loeys-dietz syndrome.
5 View disease cluster →
Marfan syndrome 14 shared genesFBN1, COL5A1, FBN2, TGFB2, SMAD3, COL3A1, MYH11, TGFBR1, TGFBR2, MYLK, TGFB3, SMAD2 +2 more Related via 14 shared genes including FBN1, COL5A1, FBN2. Thoracic aortic aneurysm and aortic dissection 13 shared genesFBN1, COL5A1, FBN2, TGFB2, SMAD3, COL3A1, MYH11, TGFBR1, TGFBR2, MYLK, TGFB3, SMAD2 +1 more Related via 13 shared genes including FBN1, COL5A1, FBN2. Congenital contractural arachnodactyly 10 shared genesFBN1, FBN2, TGFB2, SMAD3, COL3A1, TGFBR1, TGFBR2, TGFB3, SMAD2, IPO8 Related via 10 shared genes including FBN1, FBN2, TGFB2. Congenital aneurysm of ascending aorta 6 shared genesFBN1, SMAD3, COL3A1, MYH11, TGFBR2, MYLK Related via 6 shared genes including FBN1, SMAD3, COL3A1. familial thoracic aortic aneurysm and aortic dissection 5 shared genesFBN1, TGFB2, MYH11, MYLK, TGFB3 Related via 5 shared genes including FBN1, TGFB2, MYH11.