Details of Disease | DrugMAP

General Information of Disease (ID: DISKH37P)

Disease Name	Currarino triad
Synonyms	partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation; Scra1; sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation; CURRARINO syndrome; sacral agenesis syndrome; Currarino triad; Currarino syndrome
Definition	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).
Disease Hierarchy	DIS6SVEE: Syndromic disease DISHPNVX: Dysplasia DIS7W23Z: Reproductive system disorder DIS5Z8U6: Skeletal dysplasia DISKH37P: Currarino triad
Disease Identifiers	MONDO ID MONDO_0008305 MESH ID C536221 UMLS CUI C1531773 OMIM ID 176450 MedGen ID 323460 Orphanet ID 1552 SNOMED CT ID 413936007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PCSK5	TTPFWHU	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HPGD	DEHKSC6	Strong	GermlineCausalMutation	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARMC9	OT0MZER2	Strong	Biomarker	[3]
MNX1	OTXP9FH1	Definitive	Autosomal dominant	[4]
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References

1	VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.Genes Dev. 2008 Jun 1;22(11):1465-77. doi: 10.1101/gad.479408.
2	Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15.
3	The Currarino triad: What pediatric surgeons need to know.J Pediatr Surg. 2017 Aug;52(8):1260-1268. doi: 10.1016/j.jpedsurg.2016.12.010. Epub 2016 Dec 27.
4	Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet. 2000 Jan;66(1):312-9. doi: 10.1086/302723.