CURRAS
MCID: CRR002
MIFTS: 35

Currarino Syndrome (CURRAS) malady

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

Aliases & Classifications for Currarino Syndrome

Aliases & Descriptions for Currarino Syndrome:

Name: Currarino Syndrome 54 24 56 66 13
Currarino Triad 24 56 69
Curras 66

Characteristics:

Orphanet epidemiological data:

56
currarino triad
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages;

HPO:

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


Classifications:



External Ids:

OMIM 54 176450
Orphanet 56 ORPHA1552
MESH via Orphanet 43 C536221
UMLS via Orphanet 70 C1531773

Summaries for Currarino Syndrome

UniProtKB/Swiss-Prot : 66 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.

MalaCards based summary : Currarino Syndrome, also known as currarino triad, is related to caudal regression syndrome and imperforate anus, and has symptoms including vesicoureteral reflux, chronic constipation and global developmental delay. 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 digestive/alimentary and respiratory system

Wikipedia : 71 The Currarino syndrome (also Currarino triad) is an inherited congenital disorder where (1) the sacrum... 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 14)
id Related Disease Score Top Affiliating Genes
1 caudal regression syndrome 11.2
2 imperforate anus 10.8
3 currarino triad 10.8
4 meningocele 10.0
5 meningitis 9.7
6 trimethylaminuria 9.7
7 anal fistula 9.7
8 holoprosencephaly 9.7
9 sacrococcygeal teratoma 9.7
10 neuroendocrine tumor 9.7
11 teratoma 9.7
12 leiomyomatosis 9.7
13 neuronitis 9.7
14 cardiomyopathy, hypertrophic 6 9.2 GDF11 HOXA@ HOXD@ MNX1 PCSK5

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



Diseases related to Currarino Syndrome

Symptoms & Phenotypes for Currarino Syndrome

Symptoms by clinical synopsis from OMIM:

176450

Clinical features from OMIM:

176450

Human phenotypes related to Currarino Syndrome:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vesicoureteral reflux 56 32 Occasional (29-5%) HP:0000076
2 chronic constipation 32 HP:0012450
3 global developmental delay 32 HP:0001263
4 arteriovenous malformation 56 Occasional (29-5%)
5 horseshoe kidney 32 HP:0000085
6 hypospadias 56 Occasional (29-5%)
7 anal atresia 32 HP:0002023
8 hypoplasia of penis 56 Occasional (29-5%)
9 recurrent urinary tract infections 32 HP:0000010
10 male pseudohermaphroditism 56 Occasional (29-5%)
11 bifid scrotum 56 Occasional (29-5%)
12 rectovaginal fistula 32 HP:0000143
13 lower limb asymmetry 56 Occasional (29-5%)
14 abdominal distention 32 HP:0003270
15 anal stenosis 32 HP:0002025
16 bicornuate uterus 32 HP:0000813
17 neurogenic bladder 32 HP:0000011
18 abnormality of the intestine 56 Occasional (29-5%)
19 aplasia/hypoplasia of the sacrum 56 Very frequent (99-80%)
20 septate vagina 32 HP:0001153
21 bifid sacrum 32 HP:0009791
22 urinary incontinence 32 HP:0000020
23 tethered cord 32 HP:0002144
24 gastrointestinal obstruction 32 HP:0004796
25 anterior sacral meningocele 32 HP:0007293
26 perianal abscess 32 HP:0009789
27 hemisacrum 32 HP:0009790
28 presacral teratoma 32 HP:0009793
29 anal fistula 32 HP:0010447

UMLS symptoms related to Currarino Syndrome:


chronic constipation

MGI Mouse Phenotypes related to Currarino Syndrome:

44
id 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:


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 Syndrome

Genetic Tests for Currarino Syndrome

Genetic tests related to Currarino Syndrome:

id Genetic test Affiliating Genes
1 Currarino Syndrome 24 MNX1

Anatomical Context for Currarino Syndrome

MalaCards organs/tissues related to Currarino Syndrome:

39
Bone, Kidney, Uterus, Testes, Pancreas

Publications for Currarino Syndrome

Articles related to Currarino Syndrome:

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

Variations for Currarino Syndrome

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

66 (show all 11)
id 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 11)
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
11 subset of 84 genes:SOX2 NC_000003.12: g.177772523_185716872dup duplication Likely pathogenic GRCh38 Chromosome 3, 177772523: 185716872

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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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