MCID: CRR002
MIFTS: 41

Currarino Syndrome

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

Aliases & Classifications for Currarino Syndrome

MalaCards integrated aliases for Currarino Syndrome:

Name: Currarino Syndrome 53 49 55 71 36 13
Currarino Triad 53 72 49 55 28 69
Partial Sacral Agenesis with Intact First Sacral Vertebra, Presacral Mass and Anorectal Malformation 49
Curras 71

Characteristics:

Orphanet epidemiological data:

55
currarino syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages;

OMIM:

53
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:

31
currarino syndrome:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Currarino Syndrome

NIH Rare Diseases : 49 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 Syndrome, also known as currarino triad, is related to sacral defect with anterior meningocele and anus, imperforate, and has symptoms including arteriovenous malformation, hypospadias and vesicoureteral reflux. An important gene associated with Currarino Syndrome is MNX1 (Motor Neuron And Pancreas Homeobox 1). Affiliated tissues include kidney, bone and uterus, and related phenotypes are digestive/alimentary and respiratory system

UniProtKB/Swiss-Prot : 71 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 : 72 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 18)
# Related Disease Score Top Affiliating Genes
1 sacral defect with anterior meningocele 11.3
2 anus, imperforate 10.9
3 meningocele 10.1
4 epidermoid cysts 9.8
5 hirschsprung disease 1 9.8
6 hydrocephalus, nonsyndromic, autosomal recessive 1 9.8
7 trimethylaminuria 9.8
8 hydrocephalus, nonsyndromic, autosomal recessive 2 9.8
9 anal fistula 9.8
10 holoprosencephaly 9.8
11 sacrococcygeal teratoma 9.8
12 neuroendocrine tumor 9.8
13 dermoid cyst 9.8
14 teratoma 9.8
15 leiomyomatosis 9.8
16 neuronitis 9.8
17 meningitis 9.8
18 chromosome 3q duplication 9.8

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



Diseases related to Currarino Syndrome

Symptoms & Phenotypes for Currarino Syndrome

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
chronic constipation
anal atresia
rectovaginal fistula
abdominal distention
gastrointestinal obstruction
more
Genitourinary Ureters:
vesicoureteral reflux

Genitourinary Internal Genitalia Female:
rectovaginal fistula
bicornuate uterus
septate vagina

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

Genitourinary Kidneys:
horseshoe kidney

Genitourinary Bladder:
recurrent urinary tract infections
neurogenic bladder
urinary incontinence

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

Neoplasia:
presacral teratoma


Clinical features from OMIM:

176450

Human phenotypes related to Currarino Syndrome:

55 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arteriovenous malformation 55 31 occasional (7.5%) Occasional (29-5%) HP:0100026
2 hypospadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000047
3 vesicoureteral reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0000076
4 hypoplasia of penis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008736
5 male pseudohermaphroditism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000037
6 bifid scrotum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000048
7 lower limb asymmetry 55 31 occasional (7.5%) Occasional (29-5%) HP:0100559
8 sacrococcygeal teratoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0030736
9 abnormality of the intestine 55 31 occasional (7.5%) Occasional (29-5%) HP:0002242
10 aplasia/hypoplasia of the sacrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0008517
11 chronic constipation 31 HP:0012450
12 global developmental delay 31 HP:0001263
13 horseshoe kidney 31 HP:0000085
14 anal atresia 31 HP:0002023
15 recurrent urinary tract infections 31 HP:0000010
16 rectovaginal fistula 31 HP:0000143
17 abdominal distention 31 HP:0003270
18 anal stenosis 31 HP:0002025
19 bicornuate uterus 31 HP:0000813
20 neurogenic bladder 31 HP:0000011
21 urinary incontinence 31 HP:0000020
22 septate vagina 31 HP:0001153
23 bifid sacrum 31 very rare (1%) HP:0009791
24 gastrointestinal obstruction 31 HP:0004796
25 anal fistula 31 HP:0010447
26 anterior sacral meningocele 31 HP:0007293
27 tethered cord 31 HP:0002144
28 presacral teratoma 31 HP:0009793
29 hemisacrum 31 very rare (1%) HP:0009790
30 perianal abscess 31 HP:0009789

UMLS symptoms related to Currarino Syndrome:


chronic constipation

MGI Mouse Phenotypes related to Currarino Syndrome:

43
# 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 28 MNX1

Anatomical Context for Currarino Syndrome

MalaCards organs/tissues related to Currarino Syndrome:

38
Kidney, Bone, Uterus, Testes, Pancreas

Publications for Currarino Syndrome

Articles related to Currarino Syndrome:

(show all 49)
# Title Authors Year
1
Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome. ( 29401559 )
2018
2
Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study. ( 28689883 )
2017
3
Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios. ( 28456592 )
2017
4
Carcinoid transformation of presacral dermoid cyst in patient with currarino syndrome: a case report. ( 28612626 )
2017
5
Currarino Syndrome in a Fetus, Infant, Child, and Adolescent: SpectrumA of Clinical Presentations and Imaging Findings. ( 27887934 )
2017
6
A Very Rare Cause of Anal Atresia: Currarino Syndrome. ( 27081429 )
2016
7
Currarino syndrome: Rare clinical variants. ( 27695213 )
2016
8
Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2. ( 27549440 )
2016
9
Ectopic Vas Deferens Inserting Into Distal Retroiliac Ureter in the Currarino Syndrome. ( 27233932 )
2016
10
First case of Currarino Syndrome and Trimethylaminuria: two rare diseases for a complex clinical presentation. ( 27335202 )
2016
11
Currarino Syndrome and the Effect of a Large Anterior Sacral Meningocele on Distal Colostogram in an Anorectal Malformation. ( 27761181 )
2016
12
Complete currarino syndrome recognized in adulthood. ( 25861544 )
2015
13
Malignant transformation in sacrococcygeal teratoma and in presacral teratoma associated with Currarino syndrome: a comparative study. ( 25746708 )
2015
14
Phenotype analysis impacts testing strategy in patients with Currarino syndrome. ( 25691298 )
2015
15
Currarino syndrome and spinal dysraphism. ( 24745342 )
2014
16
Urological outcome in patients with Currarino syndrome. ( 25475810 )
2014
17
Currarino syndrome in an adult presenting with a presacral abscess: a case report. ( 24571710 )
2014
18
Currarino syndrome: report of five consecutive patients. ( 24013264 )
2014
19
Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene. ( 24550762 )
2014
20
A late-recognized Currarino syndrome in an adult revealed by an anal fistula. ( 24704728 )
2014
21
Currarino syndrome at Rikshospitalet 1961-2012. ( 24287836 )
2013
22
Anterior sacral meningocele in a patient with currarino syndrome as a cause of ileus. ( 23590527 )
2013
23
A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome. ( 23370340 )
2013
24
Familial Currarino syndrome associated with Hirschsprung disease: two cases of a mother and daughter. ( 23331821 )
2013
25
Currarino syndrome: variable imaging features in three siblings with HLXB9 gene mutation. ( 23466002 )
2013
26
A novel HLXB9 mutation in a Chinese family with Currarino syndrome. ( 21960426 )
2012
27
Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype. ( 22820079 )
2012
28
Urodynamic findings in patients with Currarino syndrome. ( 22503009 )
2012
29
Epidermoid cyst inside anterior sacral meningocele in an adult patient of Currarino syndrome manifesting with meningitis. ( 23015348 )
2012
30
Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndrome. ( 21763840 )
2011
31
Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens. ( 21915987 )
2011
32
Variable presentations of Currarino syndrome in three members of the same family. ( 20146075 )
2010
33
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. ( 18519639 )
2008
34
Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation. ( 18449898 )
2008
35
Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia. ( 17183586 )
2007
36
Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism. ( 17352395 )
2007
37
Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome. ( 17612791 )
2007
38
New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases). ( 16410121 )
2006
39
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome. ( 16254195 )
2006
40
[Currarino syndrome--a case report]. ( 18785437 )
2006
41
A previously unreported mutation in a Currarino syndrome kindred. ( 16906559 )
2006
42
Leiomyomatosis peritonealis disseminata in association with Currarino syndrome? ( 16686944 )
2006
43
Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3. ( 15211664 )
2004
44
[Currarino syndrome: variability of imaging findings in 22 molecular-genetically identified (HLXB9 mutation) patients from five families]. ( 15088182 )
2004
45
Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome. ( 11528505 )
2001
46
Autosomal dominant sacral agenesis: Currarino syndrome. ( 10922380 )
2000
47
Posterior sagittal approach for Currarino syndrome with anterior sacral meningocele: a case report. ( 10917308 )
2000
48
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. ( 10749657 )
2000
49
Involvement of the HLXB9 homeobox gene in Currarino syndrome. ( 10631160 )
2000

Variations for Currarino Syndrome

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

71 (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 12)
# 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
11 subset of 84 genes:SOX2 NC_000003.12: g.177772523_185716872dup duplication Likely pathogenic GRCh38 Chromosome 3, 177772523: 185716872
12 MNX1 NM_005515.3(MNX1): c.53dup (p.Arg19Thrfs) duplication Pathogenic GRCh38 Chromosome 7, 157010298: 157010298

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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42 MESH via Orphanet
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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