CURRAS
MCID: CRR002
MIFTS: 48

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 56 12 52 58 73 36 13 15 39
Currarino Triad 56 12 74 52 58 29 6 43 71
Partial Sacral Agenesis with Intact First Sacral Vertebra, Presacral Mass and Anorectal Malformation 52
Curras 73

Characteristics:

Orphanet epidemiological data:

58
currarino syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages;

OMIM:

56
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:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Currarino Syndrome

NIH Rare Diseases : 52 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 anus, imperforate and meningocele, and has symptoms including chronic constipation An important gene associated with Currarino Syndrome is MNX1 (Motor Neuron And Pancreas Homeobox 1). Affiliated tissues include bone, kidney and uterus, and related phenotypes are aplasia/hypoplasia of the sacrum and sacrococcygeal teratoma

Disease Ontology : 12 A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has material basis in heterozygous mutation in HLXB9 on chromosome 7q36.3.

KEGG : 36 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 : 73 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 : 74 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 82)
# Related Disease Score Top Affiliating Genes
1 anus, imperforate 32.1 SHH MNX1 KIDINS220
2 meningocele 30.5 VANGL1 MNX1
3 tethered spinal cord syndrome 29.4 VANGL1 MNX1 KIDINS220
4 sacral defect with anterior meningocele 12.0
5 constipation 10.6
6 teratoma 10.5
7 meningitis 10.3
8 lipomatosis, multiple 10.3
9 pleomorphic lipoma 10.3
10 anorectal anomalies 10.3
11 mature teratoma 10.2
12 myelomeningocele 10.2
13 hydrocephalus 10.2
14 mollaret meningitis 10.2
15 epidermoid cysts 10.2
16 neural tube defects 10.2
17 benign teratoma 10.2
18 neurogenic bladder 10.2
19 cystic teratoma 10.2
20 bicornuate uterus 10.2
21 acheiropody 10.1 SHH MNX1
22 hirschsprung disease 1 10.1
23 vesicoureteral reflux 1 10.1
24 anal fistula 10.1
25 hypospadias 10.1
26 microcephaly 10.1
27 neuroendocrine tumor 10.1
28 holoprosencephaly 10.1
29 bacterial meningitis 10.1
30 holoprosencephaly 3 10.1
31 spinal arachnoiditis 10.1
32 syringomyelia, noncommunicating isolated 10.1
33 insulin-like growth factor i 10.1
34 branchiootic syndrome 1 10.1
35 acid-labile subunit deficiency 10.1
36 spina bifida occulta 10.1
37 epidural abscess 10.1
38 arachnoiditis 10.1
39 hereditary spherocytosis 10.1
40 diarrhea 10.1
41 syringomyelia 10.1
42 chromosomal triplication 10.1
43 horseshoe kidney 10.1
44 solitary median maxillary central incisor 10.0 SHH MNX1
45 cornelia de lange syndrome 1 9.9
46 wilms tumor 1 9.9
47 hydrocephalus, congenital, 1 9.9
48 trimethylaminuria 9.9
49 pierpont syndrome 9.9
50 lipomyelomeningocele 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:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia/hypoplasia of the sacrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0008517
2 sacrococcygeal teratoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0030736
3 arteriovenous malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0100026
4 bifid scrotum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000048
5 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
6 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
7 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
8 male pseudohermaphroditism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000037
9 lower limb asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0100559
10 abnormal intestine morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002242
11 bifid sacrum 31 very rare (1%) HP:0009791
12 hemisacrum 31 very rare (1%) HP:0009790
13 global developmental delay 31 HP:0001263
14 recurrent urinary tract infections 31 HP:0000010
15 horseshoe kidney 31 HP:0000085
16 anal atresia 31 HP:0002023
17 tethered cord 31 HP:0002144
18 sepsis 31 HP:0100806
19 rectovaginal fistula 31 HP:0000143
20 anal stenosis 31 HP:0002025
21 bicornuate uterus 31 HP:0000813
22 abdominal distention 31 HP:0003270
23 urinary incontinence 31 HP:0000020
24 septate vagina 31 HP:0001153
25 neurogenic bladder 31 HP:0000011
26 chronic constipation 31 HP:0012450
27 perianal abscess 31 HP:0009789
28 gastrointestinal obstruction 31 HP:0004796
29 dilatation 31 HP:0002617
30 anterior sacral meningocele 31 HP:0007293
31 presacral teratoma 31 HP:0009793
32 anal fistula 31 HP:0010447

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Bladder:
recurrent urinary tract infections
urinary incontinence
neurogenic bladder

Abdomen Gastrointestinal:
anal atresia
rectovaginal fistula
abdominal distention
chronic constipation
gastrointestinal obstruction
more
Neurologic Central Nervous System:
tethered cord
anterior sacral meningocele
developmental delay (microdeletion patients only)

Neoplasia:
presacral teratoma

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%)

Clinical features from OMIM:

176450

UMLS symptoms related to Currarino Syndrome:


chronic constipation

MGI Mouse Phenotypes related to Currarino Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 DYNC2I1 GDF11 KIDINS220 MNX1 PCSK5 PTF1A
2 nervous system MP:0003631 9.56 GBX1 GDF11 KIDINS220 MNX1 PCSK5 PTF1A
3 limbs/digits/tail MP:0005371 9.55 GDF11 PCSK5 PTF1A SHH VANGL1
4 respiratory system MP:0005388 9.1 GDF11 MNX1 PCSK5 PTF1A SHH VANGL1

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

Cochrane evidence based reviews: currarino triad

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:

40
Bone, Kidney, Uterus, Spinal Cord, Colon, Pancreas, Testes

Publications for Currarino Syndrome

Articles related to Currarino Syndrome:

(show top 50) (show all 204)
# Title Authors PMID Year
1
A previously unreported mutation in a Currarino syndrome kindred. 61 56 6
16906559 2006
2
Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome. 56 6 61
11528505 2001
3
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. 61 56 6
10749657 2000
4
Involvement of the HLXB9 homeobox gene in Currarino syndrome. 56 6 61
10631160 2000
5
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. 56 6 61
9843207 1998
6
A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. 61 6 56
7550324 1995
7
Malignant degeneration of presacral teratoma in the Currarino anomaly. 56 6
15216552 2004
8
Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism. 56 61
17352395 2007
9
Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome. 61 56
17612791 2007
10
Autosomal dominant sacral agenesis: Currarino syndrome. 61 56
10922380 2000
11
Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p. 56 61
8076416 1994
12
Hereditary sacral agenesis with presacral mass and anorectal stenosis: the Currarino triad. 61 56
2059799 1991
13
Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families. 56
10541945 1999
14
Multidisciplinary management of caudal regression syndrome (26 cases). 56
9008829 1996
15
Anorectal malformations with sacral bony abnormalities. 56
2604421 1989
16
Anterior sacral defects: an autosomal dominantly inherited condition. 56
6822928 1983
17
Triad of anorectal, sacral, and presacral anomalies. 56
6789651 1981
18
Hereditary presacral teratoma. 56
4418917 1974
19
Caudal regression syndrome (Currarino syndrome) with chromosom mutation 9. 61
32550955 2020
20
Sacrum agenesis and scimitar sacrum in Currarino syndrome. 61
32447453 2020
21
Novel MNX1 mutations and genotype-phenotype analysis of patients with Currarino syndrome. 61
32571425 2020
22
Laparoscopic-Assisted Anorectal Pull-Through for Currarino Syndrome. 61
32302513 2020
23
Currarino syndrome presenting as a cerebrospinal fluid leak from the dermal sinus tract: case report. 61
32114544 2020
24
Concurrent Hirschsprung's disease and anorectal malformation: a systematic review. 61
31552492 2020
25
[Chronic constipation due to Currarino syndrome]. 61
31928948 2020
26
Malignant neuroendocrine tumour in an adult female diagnosed with Currarino syndrome. 61
31773935 2019
27
[Long-term efficacy analysis of laparoscopic-assisted anorectoplasty for high and middle imperforate anus]. 61
31874535 2019
28
Currarino syndrome in an adult woman. 61
31538082 2019
29
Adenocarcinoma and neuroendocrine tumor arising within presacral teratoma associated with Currarino syndrome: A case report. 61
31741605 2019
30
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. 61
30968178 2019
31
Unusual Imaging Findings Associated with Germ Cell Tumors. 61
31125295 2019
32
Ultrasound-Assisted Combined Spinal-Epidural Anesthesia for Cesarean Delivery in a Parturient With Currarino Triad: A Case Report. 61
31162165 2019
33
Malignant transformation of presacral mass in Currarino syndrome. 61
30740898 2019
34
Carcinoid transformation of presacral dermoid cyst in patient with currarino syndrome: a case report. 61
28612626 2019
35
Neurosurgical management of Currarino syndrome: A case series and review of literature. 61
31528408 2019
36
Atypical presentation of currarino syndrome: A case report. 61
30933899 2019
37
Currarino Triad: Importance of Preoperative Magnetic Resonance Imaging. 61
31763131 2019
38
Ultrasound-Assisted Combined Spinal-Epidural Anesthesia for Cesarean Delivery in a Parturient With Currarino Triad: A Case Report. 61
30575610 2018
39
Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach. 61
30095346 2018
40
The Currarino Triad. 61
30449925 2018
41
Multiple neurosurgical treatments for different members of the same family with Currarino syndrome. 61
29731315 2018
42
Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome. 61
29401559 2018
43
Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report. 61
29801510 2018
44
Surgical management for a huge presacral teratoma and a meningocele in an adult with Currarino triad: a case report. 61
29352751 2018
45
Combined abdomino-sacral laparoscopically assisted approach for retrorectal mass resection in a patient with Currarino's Syndrome - video vignette. 61
29211327 2017
46
Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study. 61
28689883 2017
47
Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios. 61
28456592 2017
48
The Currarino triad: What pediatric surgeons need to know. 61
28065719 2017
49
Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2. 61
27549440 2017
50
Recurrent Abortion and Tethered Cord Syndrome Caused by Anterior Sacral Meningocele: A Report of a Rare Case with a Review of the Literature. 61
28279771 2017

Variations for Currarino Syndrome

ClinVar genetic disease variations for Currarino Syndrome:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MNX1 NM_005515.4(MNX1):c.53dup (p.Arg19fs)duplication Pathogenic 435883 rs1554594329 7:156802991-156802992 7:157010297-157010298
2 MNX1 MNX1, 1-BP DEL, 652Adeletion Pathogenic 14850
3 MNX1 NM_005515.4(MNX1):c.775C>T (p.Gln259Ter)SNV Pathogenic 14851 rs121912546 7:156799250-156799250 7:157006556-157006556
4 MNX1 MNX1, 1-BP DEL, 414Cdeletion Pathogenic 14852
5 MNX1 NM_005515.4(MNX1):c.492C>A (p.Tyr164Ter)SNV Pathogenic 14853 rs121912547 7:156802553-156802553 7:157009859-157009859
6 MNX1 MNX1, 1-BP INS, 125Cinsertion Pathogenic 14854
7 MNX1 NM_005515.4(MNX1):c.853-2A>GSNV Pathogenic 14855 rs1563700090 7:156798569-156798569 7:157005875-157005875
8 MNX1 NM_005515.4(MNX1):c.852+1G>ASNV Pathogenic 14856 rs1563700419 7:156799172-156799172 7:157006478-157006478
9 MNX1 NM_005515.4(MNX1):c.736A>T (p.Thr246Ser)SNV Pathogenic 14857 rs121912548 7:156799289-156799289 7:157006595-157006595
10 MNX1 MNX1, 24-BP DEL/2-BP INS, NT577indel Pathogenic 14858
11 MNX1 NM_005515.4(MNX1):c.844G>T (p.Glu282Ter)SNV Pathogenic 14859 rs121912549 7:156799181-156799181 7:157006487-157006487
12 subset of 101 genes: SOX2 duplication Likely pathogenic 224832 3:177772523-185716872

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

73 (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 9.5 SHH PCSK5 GDF11
2 cerebellum development GO:0021549 9.46 PTF1A GBX1
3 embryonic skeletal system development GO:0048706 9.43 SHH PCSK5
4 metanephros development GO:0001656 9.4 SHH GDF11
5 spinal cord motor neuron differentiation GO:0021522 9.37 SHH GBX1
6 neuron fate commitment GO:0048663 9.33 SHH PTF1A GBX1
7 respiratory tube development GO:0030323 9.26 SHH PCSK5
8 pancreas development GO:0031016 9.13 SHH PTF1A GDF11
9 hindbrain development GO:0030902 8.8 SHH PTF1A GBX1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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