CURRAS
MCID: CRR002
MIFTS: 43

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 57 53 59 74 37 13 40
Currarino Triad 57 75 53 59 29 6 72
Partial Sacral Agenesis with Intact First Sacral Vertebra, Presacral Mass and Anorectal Malformation 53
Curras 74

Characteristics:

Orphanet epidemiological data:

59
currarino syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages;

OMIM:

57
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:

32
currarino syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 176450
KEGG 37 H00463
MESH via Orphanet 45 C536221
UMLS via Orphanet 73 C1531773
Orphanet 59 ORPHA1552
UMLS 72 C1531773

Summaries for Currarino Syndrome

NIH Rare Diseases : 53 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 uterus, bone and kidney, and related phenotypes are sacrococcygeal teratoma and aplasia/hypoplasia of the sacrum

KEGG : 37
Currarino syndrome is a condition characterized by the combination of sacral malformation, hindgut anomaly, and presacral mass. The HLXB9 gene is responsible for the symdrome.

UniProtKB/Swiss-Prot : 74 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 : 75 The Currarino syndrome is an inherited congenital disorder where either the sacrum (the fused vertebrae... more...

More information from OMIM: 176450

Related Diseases for Currarino Syndrome

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

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 sacral defect with anterior meningocele 12.0
2 anus, imperforate 11.6
3 meningocele 10.6
4 constipation 10.5
5 teratoma 10.5
6 meningitis 10.4
7 lipomatosis, multiple 10.3
8 pleomorphic lipoma 10.3
9 mature teratoma 10.2
10 myelomeningocele 10.2
11 hydrocephalus 10.2
12 congenital hydrocephalus 10.2
13 mollaret meningitis 10.2
14 anorectal anomalies 10.2
15 epidermoid cysts 10.2
16 neural tube defects 10.2
17 cystic teratoma 10.2
18 hirschsprung disease 1 10.1
19 vesicoureteral reflux 1 10.1
20 anal fistula 10.1
21 hypospadias 10.1
22 neurogenic bladder 10.1
23 dermoid cyst 10.1
24 holoprosencephaly 10.1
25 bacterial meningitis 10.1
26 microcephaly 10.1
27 tethered cord syndrome 10.1
28 bicornuate uterus 10.1
29 rare surgical neurologic disease 10.1
30 holoprosencephaly 3 10.0
31 spinal arachnoiditis 10.0
32 syringomyelia, noncommunicating isolated 10.0
33 insulin-like growth factor i 10.0
34 branchiootic syndrome 1 10.0
35 acid-labile subunit deficiency 10.0
36 spina bifida occulta 10.0
37 epidural abscess 10.0
38 arachnoiditis 10.0
39 hereditary spherocytosis 10.0
40 diarrhea 10.0
41 syringomyelia 10.0
42 chromosomal triplication 10.0
43 horseshoe kidney 10.0
44 cornelia de lange syndrome 1 9.9
45 wilms tumor 1 9.9
46 hydrocephalus, congenital, 1 9.9
47 trimethylaminuria 9.9
48 pierpont syndrome 9.9
49 lipomyelomeningocele 9.9
50 alacrima, achalasia, and mental retardation syndrome 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:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sacrococcygeal teratoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0030736
2 aplasia/hypoplasia of the sacrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0008517
3 arteriovenous malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0100026
4 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
5 bifid scrotum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000048
6 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
7 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
8 male pseudohermaphroditism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000037
9 lower limb asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0100559
10 abnormal intestine morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002242
11 hemisacrum 32 very rare (1%) HP:0009790
12 bifid sacrum 32 very rare (1%) HP:0009791
13 global developmental delay 32 HP:0001263
14 recurrent urinary tract infections 32 HP:0000010
15 horseshoe kidney 32 HP:0000085
16 anal atresia 32 HP:0002023
17 sepsis 32 HP:0100806
18 tethered cord 32 HP:0002144
19 rectovaginal fistula 32 HP:0000143
20 abdominal distention 32 HP:0003270
21 urinary incontinence 32 HP:0000020
22 anal stenosis 32 HP:0002025
23 bicornuate uterus 32 HP:0000813
24 neurogenic bladder 32 HP:0000011
25 septate vagina 32 HP:0001153
26 chronic constipation 32 HP:0012450
27 perianal abscess 32 HP:0009789
28 gastrointestinal obstruction 32 HP:0004796
29 dilatation 32 HP:0002617
30 anterior sacral meningocele 32 HP:0007293
31 presacral teratoma 32 HP:0009793
32 anal fistula 32 HP:0010447

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Bladder:
recurrent urinary tract infections
urinary incontinence
neurogenic bladder

Genitourinary Ureters:
vesicoureteral reflux

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

Neoplasia:
presacral teratoma

Genitourinary Kidneys:
horseshoe kidney

Abdomen Gastrointestinal:
anal atresia
rectovaginal fistula
abdominal distention
chronic constipation
gastrointestinal obstruction
more
Genitourinary Internal Genitalia Female:
rectovaginal fistula
bicornuate uterus
septate vagina

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

Clinical features from OMIM:

176450

UMLS symptoms related to Currarino Syndrome:


chronic constipation

MGI Mouse Phenotypes related to Currarino Syndrome:

46
# 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 and Prognosis Factors for SACRO-coccygeal Teratoma in CURRARINO Syndrome. A Clinical, Molecular and Pathological Study. 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 29 MNX1

Anatomical Context for Currarino Syndrome

MalaCards organs/tissues related to Currarino Syndrome:

41
Uterus, Bone, Kidney, Colon, Testes, Pancreas, Spinal Cord

Publications for Currarino Syndrome

Articles related to Currarino Syndrome:

(show top 50) (show all 191)
# Title Authors PMID Year
1
A previously unreported mutation in a Currarino syndrome kindred. 38 8 71
16906559 2006
2
Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome. 38 8 71
11528505 2001
3
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. 38 8 71
10749657 2000
4
Involvement of the HLXB9 homeobox gene in Currarino syndrome. 38 8 71
10631160 2000
5
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. 38 8 71
9843207 1998
6
A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. 38 8 71
7550324 1995
7
Malignant degeneration of presacral teratoma in the Currarino anomaly. 8 71
15216552 2004
8
Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism. 38 8
17352395 2007
9
Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome. 38 8
17612791 2007
10
Autosomal dominant sacral agenesis: Currarino syndrome. 38 8
10922380 2000
11
Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p. 38 8
8076416 1994
12
Hereditary sacral agenesis with presacral mass and anorectal stenosis: the Currarino triad. 38 8
2059799 1991
13
Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families. 8
10541945 1999
14
Multidisciplinary management of caudal regression syndrome (26 cases). 8
9008829 1996
15
Anorectal malformations with sacral bony abnormalities. 8
2604421 1989
16
Anterior sacral defects: an autosomal dominantly inherited condition. 8
6822928 1983
17
Triad of anorectal, sacral, and presacral anomalies. 8
6789651 1981
18
Hereditary presacral teratoma. 8
4418917 1974
19
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. 38
30968178 2019
20
Unusual Imaging Findings Associated with Germ Cell Tumors. 38
31125295 2019
21
Ultrasound-Assisted Combined Spinal-Epidural Anesthesia for Cesarean Delivery in a Parturient With Currarino Triad: A Case Report. 38
31162165 2019
22
Carcinoid transformation of presacral dermoid cyst in patient with currarino syndrome: a case report. 38
28612626 2019
23
Malignant transformation of presacral mass in Currarino syndrome. 38
30740898 2019
24
Atypical presentation of currarino syndrome: A case report. 38
30933899 2019
25
Ultrasound-Assisted Combined Spinal-Epidural Anesthesia for Cesarean Delivery in a Parturient With Currarino Triad: A Case Report. 38
30575610 2018
26
Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach. 38
30095346 2018
27
The Currarino Triad. 38
30449925 2018
28
Multiple neurosurgical treatments for different members of the same family with Currarino syndrome. 38
29731315 2018
29
Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report. 38
29801510 2018
30
Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome. 38
29401559 2018
31
Surgical management for a huge presacral teratoma and a meningocele in an adult with Currarino triad: a case report. 38
29352751 2018
32
Combined abdomino-sacral laparoscopically assisted approach for retrorectal mass resection in a patient with Currarino's Syndrome - video vignette. 38
29211327 2017
33
Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study. 38
28689883 2017
34
Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios. 38
28456592 2017
35
The Currarino triad: What pediatric surgeons need to know. 38
28065719 2017
36
Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2. 38
27549440 2017
37
Recurrent Abortion and Tethered Cord Syndrome Caused by Anterior Sacral Meningocele: A Report of a Rare Case with a Review of the Literature. 38
28279771 2017
38
Cushing's syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma. 38
28328532 2017
39
Currarino Syndrome in a Fetus, Infant, Child, and Adolescent: Spectrum of Clinical Presentations and Imaging Findings. 38
27887934 2017
40
Multidisciplinary surgical treatment of presacral meningocele and teratoma in an adult with Currarino triad. 38
28584680 2017
41
Ectopic Vas Deferens Inserting Into Distal Retroiliac Ureter in the Currarino Syndrome. 38
27233932 2016
42
Currarino syndrome: Rare clinical variants. 38
27695213 2016
43
First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation. 38
27335202 2016
44
Currarino Syndrome and the Effect of a Large Anterior Sacral Meningocele on Distal Colostogram in an Anorectal Malformation. 38
27761181 2016
45
A Very Rare Cause of Anal Atresia: Currarino Syndrome. 38
27081429 2016
46
Combined spinal-epidural technique for caesarean delivery of a parturient with Currarino triad. 38
26411551 2016
47
Currarino triad with Müllerian duct anomaly in mother and daughter without MNX1 gene mutation. 38
26793693 2016
48
Fatal Meningitis in a 14-Month-Old with Currarino Triad. 38
27597920 2016
49
Phenotype analysis impacts testing strategy in patients with Currarino syndrome. 38
25691298 2016
50
[Recurrent meningitis due to anatomical defects: The bacteria indicates its origin]. 38
25446794 2015

Variations for Currarino Syndrome

ClinVar genetic disease variations for Currarino Syndrome:

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MNX1 NM_005515.4(MNX1): c.53dup (p.Arg19fs) duplication Pathogenic rs1554594329 7:156802992-156802992 7:157010298-157010298
2 MNX1 MNX1, 1-BP DEL, 652A deletion Pathogenic
3 MNX1 NM_005515.4(MNX1): c.775C> T (p.Gln259Ter) single nucleotide variant Pathogenic rs121912546 7:156799250-156799250 7:157006556-157006556
4 MNX1 MNX1, 1-BP DEL, 414C deletion Pathogenic
5 MNX1 NM_005515.4(MNX1): c.492C> A (p.Tyr164Ter) single nucleotide variant Pathogenic rs121912547 7:156802553-156802553 7:157009859-157009859
6 MNX1 MNX1, 1-BP INS, 125C insertion Pathogenic
7 MNX1 NM_005515.4(MNX1): c.853-2A> G single nucleotide variant Pathogenic 7:156798569-156798569 7:157005875-157005875
8 MNX1 NM_005515.4(MNX1): c.852+1G> A single nucleotide variant Pathogenic 7:156799172-156799172 7:157006478-157006478
9 MNX1 NM_005515.4(MNX1): c.736A> T (p.Thr246Ser) single nucleotide variant Pathogenic rs121912548 7:156799289-156799289 7:157006595-157006595
10 MNX1 MNX1, 24-BP DEL/2-BP INS, NT577 indel Pathogenic
11 MNX1 NM_005515.4(MNX1): c.844G> T (p.Glu282Ter) single nucleotide variant Pathogenic rs121912549 7:156799181-156799181 7:157006487-157006487
12 subset of 98 genes:SOX2 duplication Likely pathogenic

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

74 (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

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 PCSK5 GDF11

Sources for Currarino Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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