MCID: CDL005
MIFTS: 25

Caudal Duplication Anomaly

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

Aliases & Classifications for Caudal Duplication Anomaly

MalaCards integrated aliases for Caudal Duplication Anomaly:

Name: Caudal Duplication Anomaly 57 75 37 29 13 55 6 40 73
Caudal Duplication 53 59
Split Notochord Syndrome 59
Dipygus 59
Cadua 75

Characteristics:

Orphanet epidemiological data:

59
caudal duplication
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal; Age of death: any age;

Classifications:



External Ids:

OMIM 57 607864
Orphanet 59 ORPHA1756
UMLS via Orphanet 74 C1842884 C0266688
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1842884
MeSH 44 D000015
KEGG 37 H00934
UMLS 73 C1842884

Summaries for Caudal Duplication Anomaly

UniProtKB/Swiss-Prot : 75 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 neurenteric cyst. 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 cryptorchidism and renal hypoplasia/aplasia

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 10.1
2 neurenteric cyst 10.1
3 respiratory failure 9.9
4 anus, imperforate 9.7
5 sacral defect with anterior meningocele 9.7
6 renal dysplasia, cystic 9.7
7 mucositis 9.7
8 multicystic dysplastic kidney 9.7

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:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
2 renal hypoplasia/aplasia 59 32 frequent (33%) Frequent (79-30%) HP:0008678
3 urogenital fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0100589
4 abnormality of the penis 59 32 frequent (33%) Frequent (79-30%) HP:0000036
5 ureteral duplication 59 32 frequent (33%) Frequent (79-30%) HP:0000073
6 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
7 spinal cord lesion 59 32 frequent (33%) Frequent (79-30%) HP:0100561
8 myelomeningocele 59 32 frequent (33%) Frequent (79-30%) HP:0002475
9 uterus didelphys 59 32 frequent (33%) Frequent (79-30%) HP:0003762
10 bifid sacrum 59 32 frequent (33%) Frequent (79-30%) HP:0009791
11 intestinal duplication 59 32 frequent (33%) Frequent (79-30%) HP:0100668
12 spina bifida 59 Frequent (79-30%)
13 vertebral segmentation defect 59 Frequent (79-30%)
14 abnormality of the genital system 59 Frequent (79-30%)
15 abnormality of the sacrum 59 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:

# Genetic test Affiliating Genes
1 Caudal Duplication Anomaly 29 AXIN1

Anatomical Context for Caudal Duplication Anomaly

MalaCards organs/tissues related to Caudal Duplication Anomaly:

41
Spinal Cord, Uterus

Publications for Caudal Duplication Anomaly

Articles related to Caudal Duplication Anomaly:

# 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
# 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:

37
# 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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