CADUA
MCID: CDL005
MIFTS: 31

Caudal Duplication Anomaly (CADUA)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Caudal Duplication Anomaly

MalaCards integrated aliases for Caudal Duplication Anomaly:

Name: Caudal Duplication Anomaly 57 72 36 29 13 54 6 39 70
Caudal Duplication 73 20 58
Split Notochord Syndrome 58
Dipygus 58
Cadua 72

Characteristics:

Orphanet epidemiological data:

58
caudal duplication
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 607864
KEGG 36 H00934
MeSH 44 D000015
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C0266688 C1842884
Orphanet 58 ORPHA1756
MedGen 41 C1842884
UMLS 70 C1842884

Summaries for Caudal Duplication Anomaly

KEGG : 36 Caudal duplication anomaly is a rare type of developmental disorder that arises from incomplete separation of mono-ovular twins. It can involve various congenital anomalies, but the hallmark is duplication of organs in the caudal region, and most frequently affected organs are genitourinary and gastrointestinal tracts. Recently AXIN1 promotor has been shown to have methylation in patients with caudal duplication anomaly.

MalaCards based summary : Caudal Duplication Anomaly, also known as caudal duplication, is related to neural tube defects and meningocele. An important gene associated with Caudal Duplication Anomaly is AXIN1 (Axin 1), and among its related pathways/superpathways is Wnt signaling pathway. Affiliated tissues include uterus, spinal cord and heart, and related phenotypes are renal hypoplasia/aplasia and ureteral duplication

UniProtKB/Swiss-Prot : 72 Caudal duplication anomaly: A condition characterized by the occurrence of duplications of different organs in the caudal region.

Wikipedia : 73 Caudal duplication, (or caudal duplication syndrome) is a rare congenital disorder in which various... more...

More information from OMIM: 607864

Related Diseases for Caudal Duplication Anomaly

Diseases related to Caudal Duplication Anomaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 neural tube defects 10.4
2 meningocele 10.3
3 tethered spinal cord syndrome 10.3
4 teratoma 10.3
5 hydrocephalus 10.2
6 wandering spleen 10.2
7 anus, imperforate 10.1
8 omphalocele 10.1
9 diaphragmatic hernia, congenital 10.0
10 meckel diverticulum 10.0
11 syringomyelia, noncommunicating isolated 10.0
12 oeis complex 10.0
13 cyclic vomiting syndrome 10.0
14 pulmonary hypertension 10.0
15 inguinal hernia 10.0
16 spina bifida occulta 10.0
17 bladder exstrophy 10.0
18 respiratory failure 10.0
19 horner's syndrome 10.0
20 syringomyelia 10.0
21 mature teratoma 10.0
22 polyhydramnios 10.0
23 meningitis 10.0
24 hemorrhoid 10.0
25 absence of septum pellucidum 10.0
26 neurenteric cyst 10.0
27 spina bifida cystica 10.0
28 lipomatosis, multiple 10.0
29 myelomeningocele 10.0
30 pleomorphic lipoma 10.0
31 hypospadias 10.0
32 hydronephrosis 10.0
33 ventricular septal defect 10.0
34 heart septal defect 10.0
35 diphallia 10.0
36 abdominal wall defect 10.0
37 scoliosis 9.9
38 epignathus 9.9
39 cleft palate, isolated 9.8
40 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.8
41 polykaryocytosis inducer 9.8
42 pelvic organ prolapse 9.8
43 right atrial isomerism 9.8
44 gastroschisis 9.8
45 sacral defect with anterior meningocele 9.8
46 lipomyelomeningocele 9.8
47 cloacal exstrophy 9.8
48 clubfoot 9.8
49 vacterl association 9.8
50 atrial heart septal defect 9.8

Graphical network of the top 20 diseases related to Caudal Duplication Anomaly:



Diseases related to Caudal Duplication Anomaly

Symptoms & Phenotypes for Caudal Duplication Anomaly

Human phenotypes related to Caudal Duplication Anomaly:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal hypoplasia/aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008678
2 ureteral duplication 58 31 frequent (33%) Frequent (79-30%) HP:0000073
3 myelomeningocele 58 31 frequent (33%) Frequent (79-30%) HP:0002475
4 uterus didelphys 58 31 frequent (33%) Frequent (79-30%) HP:0003762
5 bifid sacrum 58 31 frequent (33%) Frequent (79-30%) HP:0009791
6 spinal cord lesion 58 31 frequent (33%) Frequent (79-30%) HP:0100561
7 intestinal duplication 58 31 frequent (33%) Frequent (79-30%) HP:0100668
8 abnormal penis morphology 31 frequent (33%) HP:0000036
9 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
10 urogenital fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0100589
11 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
12 spina bifida 58 Frequent (79-30%)
13 vertebral segmentation defect 58 Frequent (79-30%)
14 abnormality of the genital system 58 Frequent (79-30%)
15 abnormal sacrum morphology 58 Frequent (79-30%)
16 abnormality of the penis 58 Frequent (79-30%)

Clinical features from OMIM®:

607864 (Updated 20-May-2021)

Drugs & Therapeutics for Caudal Duplication Anomaly

Search Clinical Trials , NIH Clinical Center for Caudal Duplication Anomaly

Genetic Tests for Caudal Duplication Anomaly

Genetic tests related to Caudal Duplication Anomaly:

# Genetic test Affiliating Genes
1 Caudal Duplication Anomaly 29 AXIN1

Anatomical Context for Caudal Duplication Anomaly

MalaCards organs/tissues related to Caudal Duplication Anomaly:

40
Uterus, Spinal Cord, Heart, Colon, Kidney, Spleen, Placenta

Publications for Caudal Duplication Anomaly

Articles related to Caudal Duplication Anomaly:

(show top 50) (show all 68)
# Title Authors PMID Year
1
Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly. 61 57 54 6
16773576 2006
2
Two cases of the caudal duplication anomaly including a discordant monozygotic twin. 57 61
12376942 2002
3
Caudal duplication syndrome. 61 57
8213674 1993
4
Two dominant mutations in the mouse fused gene are the result of transposon insertions. 57
9335612 1997
5
The mouse Fused locus encodes Axin, an inhibitor of the Wnt signaling pathway that regulates embryonic axis formation. 57
9230313 1997
6
Caudal Duplication Syndrome Systematic Review-A Need for Better Multidisciplinary Surgical Approach and Follow-Up. 61
33260808 2020
7
Caudal duplication syndrome in an adolescent: Rare concoction of duplication anomalies. 61
33226312 2020
8
Newborn with complete double penis and two separate scrotums: A case report. 61
33395832 2020
9
Surgical management of caudal duplication syndrome: A rare entity with a centered approach on quality of life. 61
31637082 2019
10
Late Diagnosis of Complete Colonic and Rectal Duplication in a Girl with an Anorectal Malformation. 61
31285983 2019
11
Persistent cloaca and caudal duplication in a monovular twin, a rare case report. 61
31220683 2019
12
A Case of Parasitic Twinning or Caudal Duplication in a Dog. 61
29757668 2018
13
Female Caudal Duplication Syndrome: A Surgical Case Report With 10-Year Follow-up and Review of the Literature. 61
29698366 2018
14
Caudal Duplication Syndrome: the Vital Role of a Multidisciplinary Approach and Staged Correction. 61
28018799 2016
15
Caudal Duplication: Management of a Rare Congenital Condition. 61
27670528 2016
16
Caudal duplication syndrome: imaging evaluation of a rare entity in an adult patient. 61
26973727 2016
17
A case of monocephalusrachipagus tribrachius tetrapus in a puppy. 61
27872725 2016
18
A case of asymmetrical monocephalus dipygus (tetrapus dibrachius) in a male Holstein calf in Iran. 61
27482365 2016
19
Caudal Duplication Syndrome. 61
26713997 2015
20
The double urethra: revisiting the surgical classification. 61
25829951 2015
21
Caudal duplication syndrome. 61
25529605 2015
22
Caudal duplication with multicystic dysplastic kidney: a case report. 61
25304120 2015
23
An extremely rare case of classic complete caudal duplication: Dipygus. 61
25197197 2014
24
Caudal duplication syndrome. 61
24411548 2014
25
Rectal duplications accompanying rectovestibular fistula: report of two cases. 61
23910814 2013
26
Caudal duplication syndrome-report of a case and review of literature. 61
24426655 2013
27
A newborn with caudal duplication and duplex imperforate anus. 61
23701807 2013
28
Caudal duplication syndrome. 61
24049755 2013
29
Duplication of peno-scroto-testicular unit- a rare form of caudal duplication syndrome. 61
24381841 2013
30
[Caudal duplication: case report]. 61
23374387 2012
31
Concomitant urethral triplication, bladder, and colon duplication. 61
21547464 2012
32
Atypical caudal duplication with phenotypic sex reversal in a dog. 61
21908371 2011
33
Persistent cloaca and partial caudal duplication: a case report. 61
21296396 2011
34
Heteropagus twinning on back -- a case report. 61
22315854 2011
35
Unusual coexistence of caudal duplication and caudal regression syndromes. 61
21238681 2011
36
Successful management of a completely duplicated lower urinary system. 61
19833559 2010
37
Multiple-stage correction of caudal duplication syndrome: a case report. 61
20006039 2009
38
Pre- and postnatal findings in a boy with duplication of the bladder and intestine: report and review. 61
19921644 2009
39
Caudal duplication syndrome. 61
19722052 2009
40
Caudal duplication syndrome with unilateral hypoplasia of the pelvis and lower limb and ventriculoseptal heart defect in a mother and features of VATER association in her child. 61
19474703 2009
41
Monocephalus dipygus parapagus: a suspected case of complete caudal duplication in a British Blue kitten. 61
19091616 2009
42
Incomplete caudal duplication in a puppy: gross and radiological observations. 61
17490442 2007
43
Complete unilateral leg duplication with ipsilateral renal agenesis. 61
17407482 2007
44
Association of cloacal anomalies, caudal duplication, and twinning. 61
16010492 2005
45
Caudal duplication syndrome: more evidence for theory of caudal twinning. 61
14966746 2004
46
Mucosal-lined hemiperineal anomaly possibly caused by antenatal rupture of a caudal duplication. 61
12415403 2002
47
Partial caudal duplication in a newborn associated with meningomyelocele and complex heart anomaly. 61
11241432 2001
48
Caudal duplication--a case report. 61
10955588 2000
49
Diphallus associated with partial caudal duplication. 61
9880723 1998
50
Unusual case of caudal duplication (dipygus). 61
9502040 1998

Variations for Caudal Duplication Anomaly

ClinVar genetic disease variations for Caudal Duplication Anomaly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AXIN1 AXIN1, PROMOTER HYPERMETHYLATION Variation Pathogenic 6038 GRCh37:
GRCh38:

Expression for Caudal Duplication Anomaly

Search GEO for disease gene expression data for Caudal Duplication Anomaly.

Pathways for Caudal Duplication Anomaly

Pathways related to Caudal Duplication Anomaly according to KEGG:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

GO Terms for Caudal Duplication Anomaly

Sources for Caudal Duplication Anomaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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