CURRAS
MCID: CRR002
MIFTS: 41

Currarino Syndrome (CURRAS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Currarino Syndrome

MalaCards integrated aliases for Currarino Syndrome:

Name: Currarino Syndrome 58 54 60 76 38 13 41
Currarino Triad 58 77 54 60 30 6 74
Partial Sacral Agenesis with Intact First Sacral Vertebra, Presacral Mass and Anorectal Malformation 54
Curras 76

Characteristics:

Orphanet epidemiological data:

60
currarino syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
reduced penetrance
heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant
currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies


HPO:

33
currarino syndrome:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Currarino Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Currarino Syndrome, also known as currarino triad, is related to sacral defect with anterior meningocele and anus, imperforate, and has symptoms including chronic constipation An important gene associated with Currarino Syndrome is MNX1 (Motor Neuron And Pancreas Homeobox 1). Affiliated tissues include kidney, uterus and bone, and related phenotypes are sacrococcygeal teratoma and aplasia/hypoplasia of the sacrum

UniProtKB/Swiss-Prot : 76 Currarino syndrome: 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.

Wikipedia : 77 The Currarino syndrome (also Currarino triad) is an inherited congenital disorder where either the... more...

Description from OMIM: 176450

Related Diseases for Currarino Syndrome

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

(show all 25)
# Related Disease Score Top Affiliating Genes
1 sacral defect with anterior meningocele 11.5
2 anus, imperforate 11.1
3 meningitis 10.3
4 meningocele 10.2
5 teratoma 10.2
6 tethered spinal cord syndrome 10.1
7 epidural abscess 10.1
8 diarrhea 10.1
9 epidermoid cysts 9.9
10 hirschsprung disease 1 9.9
11 hydrocephalus, congenital, 1 9.9
12 trimethylaminuria 9.9
13 meconium ileus 9.9
14 anal fistula 9.9
15 holoprosencephaly 9.9
16 sacrococcygeal teratoma 9.9
17 neuroendocrine tumor 9.9
18 leiomyosarcoma 9.9
19 dermoid cyst 9.9
20 leiomyomatosis 9.9
21 diffuse peritoneal leiomyomatosis 9.9
22 intravenous leiomyomatosis 9.9
23 bacterial meningitis 9.9
24 microcephaly 9.9
25 caudal regression sequence 9.9

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



Diseases related to Currarino Syndrome

Symptoms & Phenotypes for Currarino Syndrome

Human phenotypes related to Currarino Syndrome:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sacrococcygeal teratoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0030736
2 aplasia/hypoplasia of the sacrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0008517
3 arteriovenous malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0100026
4 hypospadias 60 33 occasional (7.5%) Occasional (29-5%) HP:0000047
5 vesicoureteral reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0000076
6 hypoplasia of penis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008736
7 male pseudohermaphroditism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000037
8 bifid scrotum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000048
9 lower limb asymmetry 60 33 occasional (7.5%) Occasional (29-5%) HP:0100559
10 abnormal intestine morphology 33 occasional (7.5%) HP:0002242
11 hemisacrum 33 very rare (1%) HP:0009790
12 bifid sacrum 33 very rare (1%) HP:0009791
13 global developmental delay 33 HP:0001263
14 horseshoe kidney 33 HP:0000085
15 anal atresia 33 HP:0002023
16 sepsis 33 HP:0100806
17 recurrent urinary tract infections 33 HP:0000010
18 rectovaginal fistula 33 HP:0000143
19 abdominal distention 33 HP:0003270
20 urinary incontinence 33 HP:0000020
21 anal stenosis 33 HP:0002025
22 bicornuate uterus 33 HP:0000813
23 neurogenic bladder 33 HP:0000011
24 abnormality of the intestine 60 Occasional (29-5%)
25 tethered cord 33 HP:0002144
26 septate vagina 33 HP:0001153
27 chronic constipation 33 HP:0012450
28 gastrointestinal obstruction 33 HP:0004796
29 anal fistula 33 HP:0010447
30 anterior sacral meningocele 33 HP:0007293
31 presacral teratoma 33 HP:0009793
32 perianal abscess 33 HP:0009789
33 dilatation 33 HP:0002617

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
horseshoe kidney

Genitourinary Ureters:
vesicoureteral reflux

Genitourinary Internal Genitalia Female:
rectovaginal fistula
bicornuate uterus
septate vagina

Skeletal Spine:
preserved s1 vertebrae
hemisacrum (s2-s5) (75%)
bifid sacrum (22%)

Abdomen Gastrointestinal:
anal atresia
rectovaginal fistula
abdominal distention
chronic constipation
gastrointestinal obstruction
more
Genitourinary Bladder:
recurrent urinary tract infections
urinary incontinence
neurogenic bladder

Neurologic Central Nervous System:
tethered cord
anterior sacral meningocele
developmental delay (microdeletion patients only)

Neoplasia:
presacral teratoma

Clinical features from OMIM:

176450

UMLS symptoms related to Currarino Syndrome:


chronic constipation

MGI Mouse Phenotypes related to Currarino Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.13 GDF11 MNX1 PCSK5
2 respiratory system MP:0005388 8.8 GDF11 MNX1 PCSK5

Drugs & Therapeutics for Currarino Syndrome

Interventional clinical trials:


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

Search NIH Clinical Center for Currarino Syndrome

Genetic Tests for Currarino Syndrome

Genetic tests related to Currarino Syndrome:

# Genetic test Affiliating Genes
1 Currarino Triad 30 MNX1

Anatomical Context for Currarino Syndrome

MalaCards organs/tissues related to Currarino Syndrome:

42
Kidney, Uterus, Bone, Colon, Testes, Pancreas, Spinal Cord

Publications for Currarino Syndrome

Articles related to Currarino Syndrome:

(show top 50) (show all 126)
# Title Authors Year
1
Severe bacterial meningitis due to an enterothecal fistula in a 6-year-old child with Currarino syndrome: evaluation of surgical strategy with review of the literature. ( 30968178 )
2019
2
Malignant transformation of presacral mass in Currarino syndrome. ( 30740898 )
2019
3
Atypical presentation of currarino syndrome: A case report. ( 30933899 )
2019
4
Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome. ( 29401559 )
2018
5
Multiple neurosurgical treatments for different members of the same family with Currarino syndrome. ( 29731315 )
2018
6
Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report. ( 29801510 )
2018
7
Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach. ( 30095346 )
2018
8
Surgical management for a huge presacral teratoma and a meningocele in an adult with Currarino triad: a case report. ( 29352751 )
2018
9
The Currarino Triad. ( 30449925 )
2018
10
Ultrasound-Assisted Combined Spinal-Epidural Anesthesia for Cesarean Delivery in a Parturient With Currarino Triad: A Case Report. ( 30575610 )
2018
11
Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2. ( 27549440 )
2017
12
Currarino Syndrome in a Fetus, Infant, Child, and Adolescent: Spectrum of Clinical Presentations and Imaging Findings. ( 27887934 )
2017
13
Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios. ( 28456592 )
2017
14
Carcinoid transformation of presacral dermoid cyst in patient with currarino syndrome: a case report. ( 28612626 )
2017
15
Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study. ( 28689883 )
2017
16
Multidisciplinary surgical treatment of presacral meningocele and teratoma in an adult with Currarino triad. ( 28584680 )
2017
17
The Currarino triad: What pediatric surgeons need to know. ( 28065719 )
2017
18
Phenotype analysis impacts testing strategy in patients with Currarino syndrome. ( 25691298 )
2016
19
A Very Rare Cause of Anal Atresia: Currarino Syndrome. ( 27081429 )
2016
20
Ectopic Vas Deferens Inserting Into Distal Retroiliac Ureter in the Currarino Syndrome. ( 27233932 )
2016
21
First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation. ( 27335202 )
2016
22
Currarino syndrome: Rare clinical variants. ( 27695213 )
2016
23
Currarino Syndrome and the Effect of a Large Anterior Sacral Meningocele on Distal Colostogram in an Anorectal Malformation. ( 27761181 )
2016
24
Fatal Meningitis in a 14-Month-Old with Currarino Triad. ( 27597920 )
2016
25
Combined spinal-epidural technique for caesarean delivery of a parturient with Currarino triad. ( 26411551 )
2016
26
Currarino triad with Müllerian duct anomaly in mother and daughter without MNX1 gene mutation. ( 26793693 )
2016
27
Malignant transformation in sacrococcygeal teratoma and in presacral teratoma associated with Currarino syndrome: a comparative study. ( 25746708 )
2015
28
Complete currarino syndrome recognized in adulthood. ( 25861544 )
2015
29
A late-recognized Currarino syndrome in an adult revealed by an anal fistula. ( 24704728 )
2014
30
Currarino syndrome: report of five consecutive patients. ( 24013264 )
2014
31
Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene. ( 24550762 )
2014
32
Currarino syndrome in an adult presenting with a presacral abscess: a case report. ( 24571710 )
2014
33
Currarino syndrome and spinal dysraphism. ( 24745342 )
2014
34
Urological outcome in patients with Currarino syndrome. ( 25475810 )
2014
35
Familial Currarino syndrome associated with Hirschsprung disease: two cases of a mother and daughter. ( 23331821 )
2013
36
A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome. ( 23370340 )
2013
37
Currarino syndrome: variable imaging features in three siblings with HLXB9 gene mutation. ( 23466002 )
2013
38
Anterior sacral meningocele in a patient with currarino syndrome as a cause of ileus. ( 23590527 )
2013
39
Currarino syndrome at Rikshospitalet 1961-2012. ( 24287836 )
2013
40
Presentation of incomplete Currarino triad in a 12-day-old patient with vomiting: a case report. ( 23823266 )
2013
41
A novel HLXB9 mutation in a Chinese family with Currarino syndrome. ( 21960426 )
2012
42
Urodynamic findings in patients with Currarino syndrome. ( 22503009 )
2012
43
Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype. ( 22820079 )
2012
44
Epidermoid cyst inside anterior sacral meningocele in an adult patient of Currarino syndrome manifesting with meningitis. ( 23015348 )
2012
45
Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndrome. ( 21763840 )
2011
46
Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens. ( 21915987 )
2011
47
Unusual cases of meningitis as a clue to the diagnosis of Currarino Syndrome. ( 20035210 )
2010
48
A missed case of Currarino syndrome. ( 20080526 )
2010
49
Variable presentations of Currarino syndrome in three members of the same family. ( 20146075 )
2010
50
Long-term functional outcomes in children with Currarino syndrome. ( 20473613 )
2010

Variations for Currarino Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Currarino Syndrome:

76 (show all 11)
# Symbol AA change Variation ID SNP ID
1 MNX1 p.Arg245Gly VAR_017874
2 MNX1 p.Arg245His VAR_017875
3 MNX1 p.Thr246Ser VAR_017876 rs121912548
4 MNX1 p.Trp288Gly VAR_017877
5 MNX1 p.Trp288Leu VAR_017878
6 MNX1 p.Gln290Pro VAR_017879
7 MNX1 p.Arg292Trp VAR_017880
8 MNX1 p.Arg293Gln VAR_017881
9 MNX1 p.Arg293Trp VAR_017882
10 MNX1 p.Arg243Trp VAR_068473
11 MNX1 p.Phe289Ser VAR_068474

ClinVar genetic disease variations for Currarino Syndrome:

6 (show all 19)
# 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 NM_005515.3(MNX1): c.775C> T (p.Gln259Ter) single nucleotide variant Pathogenic rs121912546 GRCh38 Chromosome 7, 157006556: 157006556
4 MNX1 MNX1, 1-BP DEL, 414C deletion Pathogenic
5 MNX1 NM_005515.3(MNX1): c.492C> A (p.Tyr164Ter) single nucleotide variant Pathogenic rs121912547 GRCh37 Chromosome 7, 156802553: 156802553
6 MNX1 NM_005515.3(MNX1): c.492C> A (p.Tyr164Ter) single nucleotide variant Pathogenic rs121912547 GRCh38 Chromosome 7, 157009859: 157009859
7 MNX1 MNX1, 1-BP INS, 125C insertion Pathogenic
8 MNX1 NM_005515.3(MNX1): c.853-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 7, 156798569: 156798569
9 MNX1 NM_005515.3(MNX1): c.853-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 7, 157005875: 157005875
10 MNX1 NM_005515.3(MNX1): c.852+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 7, 157006478: 157006478
11 MNX1 NM_005515.3(MNX1): c.852+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 7, 156799172: 156799172
12 MNX1 NM_005515.3(MNX1): c.736A> T (p.Thr246Ser) single nucleotide variant Pathogenic rs121912548 GRCh37 Chromosome 7, 156799289: 156799289
13 MNX1 NM_005515.3(MNX1): c.736A> T (p.Thr246Ser) single nucleotide variant Pathogenic rs121912548 GRCh38 Chromosome 7, 157006595: 157006595
14 MNX1 MNX1, 24-BP DEL/2-BP INS, NT577 indel Pathogenic
15 MNX1 NM_005515.3(MNX1): c.844G> T (p.Glu282Ter) single nucleotide variant Pathogenic rs121912549 GRCh37 Chromosome 7, 156799181: 156799181
16 MNX1 NM_005515.3(MNX1): c.844G> T (p.Glu282Ter) single nucleotide variant Pathogenic rs121912549 GRCh38 Chromosome 7, 157006487: 157006487
17 subset of 96 genes:SOX2 NC_000003.12: g.177772523_185716872dup duplication Likely pathogenic GRCh38 Chromosome 3, 177772523: 185716872
18 MNX1 NM_005515.3(MNX1): c.53dup (p.Arg19Thrfs) duplication Pathogenic rs1554594329 GRCh38 Chromosome 7, 157010298: 157010298
19 MNX1 NM_005515.3(MNX1): c.53dup (p.Arg19Thrfs) duplication Pathogenic rs1554594329 GRCh37 Chromosome 7, 156802992: 156802992

Expression for Currarino Syndrome

Search GEO for disease gene expression data for Currarino Syndrome.

Pathways for Currarino Syndrome

GO Terms for Currarino Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 anterior/posterior pattern specification GO:0009952 8.62 GDF11 PCSK5

Sources for Currarino Syndrome

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10 dbSNP
11 DGIdb
17 EFO
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34 ICD10
35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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