Shprintzen-goldberg syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
SHPRINTZEN SYNDROME
C0220704
TBX1 Unknown — Disgenet —
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
182212
SKI Unknown — HPO
SHPRINTZEN-GOLDBERG SYNDROME
2462C1321551MONDO:0008426
FBN1 Unknown
16333834 19293843 20301454 8563763 9338588
CTD, ClinGen, Disgenet, Orphanet
All3 Causal1 Unknown3
Related Diseases Diseases that share the most curated genes with Shprintzen-goldberg syndrome.
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Chromosome 22q11.2 microduplication syndrome 1 shared geneTBX1 Related via 1 shared gene including TBX1. Conotruncal anomaly face syndrome 1 shared geneTBX1 Related via 1 shared gene including TBX1. Congenital pectus carinatum 1 shared geneFBN1 Related via 1 shared gene including FBN1. Coronary artery dissection 1 shared geneFBN1 Related via 1 shared gene including FBN1. Ruptured abdominal aortic aneurysm 2 shared genesSKI, FBN1 Related via 2 shared genes including SKI, FBN1.