MCID: ISL029
MIFTS: 28

Isolated Anorectal Malformation

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Anorectal Malformation

MalaCards integrated aliases for Isolated Anorectal Malformation:

Name: Isolated Anorectal Malformation 58

Characteristics:

Orphanet epidemiological data:

58
isolated anorectal malformation
Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe),6-9/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-5/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Netherlands),1-5/10000 (Norway),1-5/10000 (Poland),1-9/100000 (Portugal),1-5/10000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 C537771
ICD10 via Orphanet 33 Q42.0 Q42.1 Q42.2 more
UMLS via Orphanet 72 C3495676
Orphanet 58 ORPHA557

Summaries for Isolated Anorectal Malformation

MalaCards based summary : Isolated Anorectal Malformation is related to high isolated anorectal malformation and low isolated anorectal malformation. An important gene associated with Isolated Anorectal Malformation is BCR (BCR Activator Of RhoGEF And GTPase), and among its related pathways/superpathways are Remodeling of Adherens Junctions and Reelin Pathway (Cajal-Retzius cells). Related phenotypes are anal atresia and hemivertebrae

Related Diseases for Isolated Anorectal Malformation

Graphical network of the top 20 diseases related to Isolated Anorectal Malformation:



Diseases related to Isolated Anorectal Malformation

Symptoms & Phenotypes for Isolated Anorectal Malformation

Human phenotypes related to Isolated Anorectal Malformation:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0002023
2 hemivertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0002937
3 rectovaginal fistula 58 31 frequent (33%) Frequent (79-30%) HP:0000143
4 ectopic anus 58 31 frequent (33%) Frequent (79-30%) HP:0004397
5 hydrocolpos 58 31 frequent (33%) Frequent (79-30%) HP:0030711
6 rectourethral fistula 58 31 frequent (33%) Frequent (79-30%) HP:0025407
7 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
8 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
9 tethered cord 58 31 occasional (7.5%) Occasional (29-5%) HP:0002144
10 syringomyelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003396
11 myelomeningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002475
12 persistent cloaca 58 31 occasional (7.5%) Occasional (29-5%) HP:0012621
13 hemisacrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0009790
14 anorectal anomaly 58 Very frequent (99-80%)
15 abnormality of the genitourinary system 58 Frequent (79-30%)
16 rectal fistula 58 Frequent (79-30%)

GenomeRNAi Phenotypes related to Isolated Anorectal Malformation according to GeneCards Suite gene sharing:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.81 MED12
2 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.81 MED12
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.81 BCR MED12
4 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.81 MED12
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.81 BCR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.81 MED12
7 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.81 MED12
8 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.81 BCR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.81 MED12
10 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.81 MED12
11 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.81 BCR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.81 MED12
13 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.81 CTNNB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.81 MED12
15 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.81 BCR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.81 MED12
17 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.81 MED12
18 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.81 BCR
19 Decreased cell migration GR00055-A-3 8.65 BCR

MGI Mouse Phenotypes related to Isolated Anorectal Malformation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 8.8 BCR CTNNB1 MED12

Drugs & Therapeutics for Isolated Anorectal Malformation

Search Clinical Trials , NIH Clinical Center for Isolated Anorectal Malformation

Genetic Tests for Isolated Anorectal Malformation

Anatomical Context for Isolated Anorectal Malformation

Publications for Isolated Anorectal Malformation

Articles related to Isolated Anorectal Malformation:

# Title Authors PMID Year
1
Comparison of Maternal Histories and Exposures in Children With Isolated Anorectal Malformation Versus Anorectal Malformation With Genitourinary Anomalies. 61
32714700 2020
2
Maternal factors in the origin of isolated anorectal malformations - a population-based case-control study. 61
26372250 2016
3
Birth outcomes of patients with isolated anorectal malformations: A population-based case-control study. 61
26259501 2016
4
Isolated imperforate anus in monozygotic twins: case report and implications. 61
15793704 2005
5
Urodynamic evaluation of children with the caudal regression syndrome (caudal dysplasia sequence). 61
8126785 1994

Variations for Isolated Anorectal Malformation

ClinVar genetic disease variations for Isolated Anorectal Malformation:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BCR GRCh37/hg19 22q11.22-11.23(chr22:22971867-23643138) copy number loss Pathogenic 638672 22:22971867-23643138
2 MED12 NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) SNV Pathogenic 11520 rs80338758 X:70347217-70347217 X:71127367-71127367
3 CTNNB1 NM_001904.4(CTNNB1):c.1876G>T (p.Glu626Ter) SNV Likely pathogenic 523403 rs1553632357 3:41277912-41277912 3:41236421-41236421
4 SLC9A4 GRCh37/hg19 2q12.1(chr2:103090517-103148433) copy number loss Uncertain significance 638673 2:103090517-103148433
5 TBXAS1 GRCh37/hg19 7q34(chr7:139478979-139550968) copy number gain Uncertain significance 638674 7:139478979-139550968
6 GABRG3 GRCh37/hg19 15q12(chr15:27462869-27544157) copy number gain Uncertain significance 638675 15:27462869-27544157

Expression for Isolated Anorectal Malformation

Search GEO for disease gene expression data for Isolated Anorectal Malformation.

Pathways for Isolated Anorectal Malformation

Pathways related to Isolated Anorectal Malformation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.36 CTNNB1 BCR
2 11.16 CTNNB1 BCR
3 11.04 MED12 CTNNB1
4 10.52 MED12 CTNNB1

GO Terms for Isolated Anorectal Malformation

Cellular components related to Isolated Anorectal Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Schaffer collateral - CA1 synapse GO:0098685 8.96 CTNNB1 BCR
2 postsynaptic density, intracellular component GO:0099092 8.62 CTNNB1 BCR

Biological processes related to Isolated Anorectal Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.32 MED12 CTNNB1
2 canonical Wnt signaling pathway GO:0060070 9.26 MED12 CTNNB1
3 stem cell population maintenance GO:0019827 9.16 MED12 CTNNB1
4 embryonic organ development GO:0048568 8.96 MED12 CTNNB1
5 embryonic brain development GO:1990403 8.62 MED12 CTNNB1

Molecular functions related to Isolated Anorectal Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.26 MED12 CTNNB1
2 transcription coactivator activity GO:0003713 9.16 MED12 CTNNB1
3 protein C-terminus binding GO:0008022 8.96 MED12 CTNNB1
4 beta-catenin binding GO:0008013 8.62 MED12 CTNNB1

Sources for Isolated Anorectal Malformation

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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