CADUA
MCID: CDL005
MIFTS: 29

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 58 76 38 30 13 56 6 41 74
Caudal Duplication 54 60
Split Notochord Syndrome 60
Dipygus 60
Cadua 76

Characteristics:

Orphanet epidemiological data:

60
caudal duplication
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal; Age of death: any age;

Classifications:



External Ids:

OMIM 58 607864
KEGG 38 H00934
MeSH 45 D000015
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C0266688 C1842884
Orphanet 60 ORPHA1756
MedGen 43 C1842884
UMLS 74 C1842884

Summaries for Caudal Duplication Anomaly

UniProtKB/Swiss-Prot : 76 Caudal duplication anomaly: A condition characterized by the occurrence of duplications of different organs in the caudal region.

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 spinal cord, uterus and kidney, and related phenotypes are renal hypoplasia/aplasia and abnormality of the penis

Description 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 all 11)
# Related Disease Score Top Affiliating Genes
1 neural tube defects 10.2
2 meningocele 10.1
3 respiratory failure 10.1
4 caudal regression sequence 10.1
5 neurenteric cyst 10.1
6 anus, imperforate 9.9
7 renal dysplasia, cystic 9.9
8 myelomeningocele 9.9
9 vacterl association 9.9
10 diphallia 9.9
11 multicystic dysplastic kidney 9.9

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:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal hypoplasia/aplasia 60 33 frequent (33%) Frequent (79-30%) HP:0008678
2 abnormality of the penis 60 33 frequent (33%) Frequent (79-30%) HP:0000036
3 ureteral duplication 60 33 frequent (33%) Frequent (79-30%) HP:0000073
4 spinal cord lesion 60 33 frequent (33%) Frequent (79-30%) HP:0100561
5 myelomeningocele 60 33 frequent (33%) Frequent (79-30%) HP:0002475
6 uterus didelphys 60 33 frequent (33%) Frequent (79-30%) HP:0003762
7 bifid sacrum 60 33 frequent (33%) Frequent (79-30%) HP:0009791
8 intestinal duplication 60 33 frequent (33%) Frequent (79-30%) HP:0100668
9 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
10 urogenital fistula 60 33 occasional (7.5%) Occasional (29-5%) HP:0100589
11 omphalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0001539
12 spina bifida 60 Frequent (79-30%)
13 vertebral segmentation defect 60 Frequent (79-30%)
14 abnormality of the genital system 60 Frequent (79-30%)
15 abnormal sacrum morphology 60 Frequent (79-30%)

Clinical features from OMIM:

607864

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 30 AXIN1

Anatomical Context for Caudal Duplication Anomaly

MalaCards organs/tissues related to Caudal Duplication Anomaly:

42
Spinal Cord, Uterus, Kidney, Heart

Publications for Caudal Duplication Anomaly

Articles related to Caudal Duplication Anomaly:

(show all 44)
# Title Authors Year
1
Female Caudal Duplication Syndrome: A Surgical Case Report With 10-Year Follow-up and Review of the Literature. ( 29698366 )
2018
2
A Case of Parasitic Twinning or Caudal Duplication in a Dog. ( 29757668 )
2018
3
Caudal duplication syndrome: imaging evaluation of a rare entity in an adult patient. ( 26973727 )
2016
4
Caudal Duplication: Management of a Rare Congenital Condition. ( 27670528 )
2016
5
Caudal Duplication Syndrome: the Vital Role of a Multidisciplinary Approach and Staged Correction. ( 28018799 )
2016
6
Caudal duplication with multicystic dysplastic kidney: a case report. ( 25304120 )
2015
7
Caudal duplication syndrome. ( 25529605 )
2015
8
Caudal Duplication Syndrome. ( 26713997 )
2015
9
Caudal duplication syndrome. ( 24411548 )
2014
10
An extremely rare case of classic complete caudal duplication: Dipygus. ( 25197197 )
2014
11
A newborn with caudal duplication and duplex imperforate anus. ( 23701807 )
2013
12
Caudal duplication syndrome. ( 24049755 )
2013
13
Duplication of peno-scroto-testicular unit- a rare form of caudal duplication syndrome. ( 24381841 )
2013
14
Caudal duplication syndrome-report of a case and review of literature. ( 24426655 )
2013
15
Unusual coexistence of caudal duplication and caudal regression syndromes. ( 21238681 )
2011
16
Persistent cloaca and partial caudal duplication: a case report. ( 21296396 )
2011
17
Atypical caudal duplication with phenotypic sex reversal in a dog. ( 21908371 )
2011
18
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. ( 19474703 )
2009
19
Monocephalus dipygus parapagus: a suspected case of complete caudal duplication in a British Blue kitten. ( 19091616 )
2009
20
Caudal duplication syndrome. ( 19722052 )
2009
21
Multiple-stage correction of caudal duplication syndrome: a case report. ( 20006039 )
2009
22
Incomplete caudal duplication in a puppy: gross and radiological observations. ( 17490442 )
2007
23
Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly. ( 16773576 )
2006
24
Association of cloacal anomalies, caudal duplication, and twinning. ( 16010492 )
2005
25
Caudal duplication syndrome: more evidence for theory of caudal twinning. ( 14966746 )
2004
26
Two cases of the caudal duplication anomaly including a discordant monozygotic twin. ( 12376942 )
2002
27
Mucosal-lined hemiperineal anomaly possibly caused by antenatal rupture of a caudal duplication. ( 12415403 )
2002
28
Partial caudal duplication in a newborn associated with meningomyelocele and complex heart anomaly. ( 11241432 )
2001
29
Caudal duplication--a case report. ( 10955588 )
2000
30
Unusual case of caudal duplication (dipygus). ( 9502040 )
1998
31
Diphallus associated with partial caudal duplication. ( 9880723 )
1998
32
Evaluation of the lower urinary tract function in caudal duplication (dipygus) anomaly. ( 8986986 )
1996
33
Surgically treated dipygus (caudal duplication) and review of the literature. ( 8199137 )
1994
34
Caudal duplication syndrome. ( 8213674 )
1993
35
An unusual form of caudal duplication (dipygus). ( 8340869 )
1993
36
A rare case of caudal duplication. ( 2023094 )
1991
37
An unusual case of caudal duplication. ( 3794939 )
1986
38
Diplomyelia: caudal duplication of the neural tube in mice. ( 3798370 )
1986
39
A case of surgically treated dipygus (caudal duplication). ( 3944760 )
1986
40
Arthrogryposis in caudal duplication. An anatomical and histological study of arthrogrypotic limbs. ( 7068727 )
1982
41
Dipygus (caudal duplication). ( 512799 )
1979
42
Surgical correction of caudal duplication. ( 512800 )
1979
43
Surgical correction of caudal duplication (dipygus). ( 4785570 )
1973
44
Operative correction of caudal duplication (dipygus). ( 5646938 )
1968

Variations for Caudal Duplication Anomaly

ClinVar genetic disease variations for Caudal Duplication Anomaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AXIN1 AXIN1, PROMOTER HYPERMETHYLATION undetermined variant Pathogenic

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:

38
# 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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