CADUA
MCID: CDL005
MIFTS: 27

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 and uterus, 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:

# Related Disease Score Top Affiliating Genes
1 neural tube defects 10.2
2 meningocele 10.1
3 respiratory failure 10.1
4 neurenteric cyst 10.1
5 anus, imperforate 9.9
6 renal dysplasia, cystic 9.9
7 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 abnormality of the sacrum 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

Publications for Caudal Duplication Anomaly

Articles related to Caudal Duplication Anomaly:

# 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 Syndrome. ( 26713997 )
2015
7
Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly. ( 16773576 )
2006
8
Two cases of the caudal duplication anomaly including a discordant monozygotic twin. ( 12376942 )
2002

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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