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
SKI Causal
23023332
ClinGen, ClinVar, Disgenet, GenCC, Orphanet
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.