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Currarino triad

Disease Summary
Associated Targets (11)
Tbio

7

Tchem

3

Tclin

1


GARD Rare
Mondo Description Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).
Uniprot Description The triad of a presacral tumor, sacral agenesis and anorectal malformation constitutes the Currarino syndrome which is caused by dorsal-ventral patterning defects during embryonic development. The syndrome occurs in the majority of patients as an autosomal dominant trait.
Mondo Term and Equivalent IDs
MONDO:0008305:  Currarino triad
DOID:0111546: 
GARD:0001626: 
MESH:C536221: 
Orphanet:1552: 
SCTID:413936007: 
UMLS:C1531773: