Aliases & Classifications for Currarino Triad

Aliases & Descriptions for Currarino Triad:

Name: Currarino Triad 50 29 69
Partial Sacral Agenesis with Intact First Sacral Vertebra, Presacral Mass and Anorectal Malformation 50
Currarino Syndrome 50

Classifications:



Summaries for Currarino Triad

NIH Rare Diseases : 50 currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities (abnormally developed lower spine), anorectal malformation (most commonly in the form of anorectal stenosis) and presacral mass consisting of a teratoma, anterior sacral meningocele or both. however only 1 out of 5 cases of currarino triad has all three abnormalities present. currarino triad is considered a spectrum disorder with a wide variation in severity. up to one-third of the patients are asymptomatic and may only be diagnosed during adulthood only on x-rays and ultrasound examinations that are performed for different reasons. currarino triad is most often caused by mutations in the mnx1 gene. treatment depends on the type and severity of abnormalities present, but may involve surgery. last updated: 3/30/2016

MalaCards based summary : Currarino Triad, also known as partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation, is related to currarino syndrome and sacrococcygeal teratoma, and has symptoms including arteriovenous malformation, hypospadias and vesicoureteral reflux. An important gene associated with Currarino Triad is LBX1 (Ladybird Homeobox 1). Affiliated tissues include colon, and related phenotype is Negative genetic interaction between PTEN-/- and PTEN+/+.

Related Diseases for Currarino Triad

Diseases related to Currarino Triad via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 currarino syndrome 11.8
2 sacrococcygeal teratoma 11.0
3 meningitis 10.0
4 meningocele 10.0
5 cutis laxa osteoporosis 9.8 LBX1 MNX1
6 microcephaly 9.8
7 epidural abscess 9.8
8 diarrhea 9.8
9 bacterial meningitis 9.8

Graphical network of the top 20 diseases related to Currarino Triad:



Diseases related to Currarino Triad

Symptoms & Phenotypes for Currarino Triad

Human phenotypes related to Currarino Triad:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 arteriovenous malformation 32 HP:0100026
2 hypospadias 32 HP:0000047
3 vesicoureteral reflux 32 HP:0000076
4 hypoplasia of penis 32 HP:0008736
5 male pseudohermaphroditism 32 HP:0000037
6 bifid scrotum 32 HP:0000048
7 lower limb asymmetry 32 HP:0100559
8 abnormality of the intestine 32 HP:0002242
9 aplasia/hypoplasia of the sacrum 32 HP:0008517

UMLS symptoms related to Currarino Triad:


chronic constipation

GenomeRNAi Phenotypes related to Currarino Triad according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 8.62 LBX1 MNX1

Drugs & Therapeutics for Currarino Triad

Interventional clinical trials:


id Name Status NCT ID Phase
1 Characterization of At-risk Population for Pre-sacral Tumor in CURRARINO Syndrome Completed NCT00780117

Search NIH Clinical Center for Currarino Triad

Genetic Tests for Currarino Triad

Genetic tests related to Currarino Triad:

id Genetic test Affiliating Genes
1 Currarino Triad 29

Anatomical Context for Currarino Triad

MalaCards organs/tissues related to Currarino Triad:

39
Colon

Publications for Currarino Triad

Articles related to Currarino Triad:

(show all 41)
id Title Authors Year
1
Fatal Meningitis in a 14-Month-Old with Currarino Triad. ( 27597920 )
2016
2
The Currarino triad: What pediatric surgeons need to know. ( 28065719 )
2016
3
Currarino triad with MA1llerian duct anomaly in mother and daughter without MNX1 gene mutation. ( 26793693 )
2016
4
Combined spinal-epidural technique for caesarean delivery of a parturient with Currarino triad. ( 26411551 )
2015
5
Presentation of incomplete Currarino triad in a 12-day-old patient with vomiting: a case report. ( 23823266 )
2013
6
Complete Currarino triad presenting with diarrhea in a 7-month-old girl. ( 20622714 )
2010
7
Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. ( 19838731 )
2010
8
Currarino triad: surgical management and follow-up results of four [correction of three] cases. ( 20664237 )
2010
9
The shrinking of an anterior sacral meningocele in time following transdural ligation of its neck in a case of the Currarino triad. ( 18814114 )
2008
10
Currarino triad associated with malrotation of the colon. ( 17268712 )
2007
11
Complete familial Currarino triad in association with Hirschsprung's disease: magnetic resonance imaging features and the spectrum of anorectal malformations. ( 16739705 )
2006
12
Incomplete Currarino triad as an embryological variant. Case report and review of the literature. ( 17184087 )
2006
13
The Currarino triad: neurosurgical considerations. ( 16639328 )
2006
14
Currarino triad: characteristic appearances on magnetic resonance imaging and plain radiography. ( 16732824 )
2006
15
The Currarino triad: the variable expression. ( 16080925 )
2005
16
Complete Currarino triad in all affected members of the same family. ( 16254853 )
2005
17
Currarino triad as an anterior sacral meningocele. ( 15292645 )
2004
18
Currarino triad associated with Hirschsprung's disease. ( 12861546 )
2003
19
Currarino triad with dual pathology in the presacral mass: report of a case. ( 12847376 )
2003
20
Recurrent meningitis associated with complete Currarino triad in an adult--case report. ( 14620204 )
2003
21
Currarino triad: concurrent US and MRI diagnosis in the fetus and the mother. ( 12424765 )
2002
22
Bacterial meningitis of an infant with Currarino triad. ( 12607487 )
2002
23
Complete familial Currarino triad. Report of three cases in one family. ( 11147855 )
2001
24
Presacral tumor associated with the Currarino triad in an adolescent. ( 11195108 )
2001
25
Currarino triad--diagnostic dilemma and a combined surgical approach. ( 11101738 )
2000
26
A case of Currarino triad with familial sacral bony deformities. ( 10663864 )
2000
27
"Teratomas" in the Currarino triad: a misnomer. ( 10594140 )
2000
28
H-type rectovaginal fistula associated with the Currarino triad. ( 10738617 )
1999
29
Spinal epidural abscess in preverbal children: A case report with Currarino triad. ( 10545562 )
1999
30
The spectrum of imaging in Currarino triad. ( 10460372 )
1999
31
A case of incomplete Currarino triad with malignant transformation. ( 10415302 )
1999
32
Spinal dysraphism and the Currarino triad. ( 18639045 )
1998
33
Prenatal diagnosis of a Currarino triad. ( 9795054 )
1997
34
Currarino triad: anorectal malformation, sacral bony abnormality, and presacral mass--a review of 11 cases. ( 9021570 )
1997
35
Magnetic resonance detection of myelodysplasia in children with Currarino triad. ( 9388278 )
1997
36
The Currarino triad: its importance in pediatric neurosurgery. ( 9144713 )
1996
37
Currarino triad with a terminal deletion 7q35-->qter. ( 8933345 )
1996
38
Case report: an unusual association of a rectovaginal fistula with the Currarino triad. ( 8162690 )
1994
39
Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p. ( 8076416 )
1994
40
Hereditary sacral agenesis with presacral mass and anorectal stenosis: the Currarino triad. ( 2059799 )
1991
41
The Currarino triad: complex of anorectal malformation, sacral bony abnormality, and presacral mass. ( 6728549 )
1984

Variations for Currarino Triad

ClinVar genetic disease variations for Currarino Triad:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MNX1 MNX1, 1-BP DEL, 652A deletion Pathogenic
2 MNX1 NM_005515.3(MNX1): c.775C> T (p.Gln259Ter) single nucleotide variant Pathogenic rs121912546 GRCh37 Chromosome 7, 156799250: 156799250
3 MNX1 MNX1, 1-BP DEL, 414C deletion Pathogenic
4 MNX1 NM_005515.3(MNX1): c.492C> A (p.Tyr164Ter) single nucleotide variant Pathogenic rs121912547 GRCh37 Chromosome 7, 156802553: 156802553
5 MNX1 MNX1, 1-BP INS, 125C insertion Pathogenic
6 MNX1 MNX1, IVS2, A-G, -2 single nucleotide variant Pathogenic
7 MNX1 MNX1, IVS2, G-A, +1 single nucleotide variant Pathogenic
8 MNX1 NM_005515.3(MNX1): c.736A> T (p.Thr246Ser) single nucleotide variant Pathogenic rs121912548 GRCh37 Chromosome 7, 156799289: 156799289
9 MNX1 MNX1, 24-BP DEL/2-BP INS, NT577 indel Pathogenic
10 MNX1 NM_005515.3(MNX1): c.844G> T (p.Glu282Ter) single nucleotide variant Pathogenic rs121912549 GRCh37 Chromosome 7, 156799181: 156799181

Expression for Currarino Triad

Search GEO for disease gene expression data for Currarino Triad.

Pathways for Currarino Triad

GO Terms for Currarino Triad

Biological processes related to Currarino Triad according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 8.62 LBX1 MNX1

Molecular functions related to Currarino Triad according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 8.96 LBX1 MNX1
2 sequence-specific DNA binding GO:0043565 8.62 LBX1 MNX1

Sources for Currarino Triad

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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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