CADUA
MCID: CDL005
MIFTS: 23

Caudal Duplication Anomaly (CADUA) malady

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

Aliases & Classifications for Caudal Duplication Anomaly

Aliases & Descriptions for Caudal Duplication Anomaly:

Name: Caudal Duplication Anomaly 54 66 13 52 69
Caudal Duplication 50 56 29
Split Notochord Syndrome 56
Dipygus 56
Cadua 66

Characteristics:

Orphanet epidemiological data:

56
caudal duplication
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal; Age of death: any age;

Classifications:



External Ids:

OMIM 54 607864
Orphanet 56 ORPHA1756
UMLS via Orphanet 70 C0266688
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1842884
MeSH 42 D000015

Summaries for Caudal Duplication Anomaly

UniProtKB/Swiss-Prot : 66 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 neurenteric cyst and respiratory failure, and has symptoms including cryptorchidism, renal hypoplasia/aplasia and urogenital fistula. An important gene associated with Caudal Duplication Anomaly is AXIN1 (Axin 1). Affiliated tissues include uterus and spinal cord.

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:

id Related Disease Score Top Affiliating Genes
1 neurenteric cyst 10.0
2 respiratory failure 9.9
3 multicystic dysplastic kidney 9.6
4 caudal regression syndrome 9.6
5 mucositis 9.6
6 imperforate anus 9.6

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



Diseases related to Caudal Duplication Anomaly

Symptoms & Phenotypes for Caudal Duplication Anomaly

Clinical features from OMIM:

607864

Human phenotypes related to Caudal Duplication Anomaly:

56 32 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
2 renal hypoplasia/aplasia 56 32 Frequent (79-30%) HP:0008678
3 urogenital fistula 56 32 Occasional (29-5%) HP:0100589
4 abnormality of the penis 56 32 Frequent (79-30%) HP:0000036
5 ureteral duplication 56 32 Frequent (79-30%) HP:0000073
6 omphalocele 56 32 Occasional (29-5%) HP:0001539
7 myelomeningocele 56 32 Frequent (79-30%) HP:0002475
8 uterus didelphys 56 32 Frequent (79-30%) HP:0003762
9 bifid sacrum 56 32 Frequent (79-30%) HP:0009791
10 spinal cord lesion 56 32 Frequent (79-30%) HP:0100561
11 intestinal duplication 56 32 Frequent (79-30%) HP:0100668
12 spina bifida 56 Frequent (79-30%)
13 vertebral segmentation defect 56 Frequent (79-30%)
14 abnormality of the genital system 56 Frequent (79-30%)
15 abnormality of the sacrum 56 Frequent (79-30%)

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:

id Genetic test Affiliating Genes
1 Caudal Duplication Anomaly 29

Anatomical Context for Caudal Duplication Anomaly

MalaCards organs/tissues related to Caudal Duplication Anomaly:

39
Uterus, Spinal Cord

Publications for Caudal Duplication Anomaly

Articles related to Caudal Duplication Anomaly:

id Title Authors Year
1
Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly. ( 16773576 )
2006
2
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
id 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

GO Terms for Caudal Duplication Anomaly

Sources for Caudal Duplication Anomaly

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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