MCID: ISL029
MIFTS: 15

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 44 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. Related phenotypes are hemivertebrae and anal atresia

Related Diseases for Isolated Anorectal Malformation

Diseases in the Isolated Anorectal Malformation family:

Intermediate Isolated Anorectal Malformation

Diseases related to Isolated Anorectal Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 high isolated anorectal malformation 12.4
2 low isolated anorectal malformation 12.4
3 intermediate isolated anorectal malformation 12.4
4 anorectal anomalies 9.9
5 anal fistula 9.9

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 hemivertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0002937
2 anal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0002023
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 rectourethral fistula 58 31 frequent (33%) Frequent (79-30%) HP:0025407
6 hydrocolpos 58 31 frequent (33%) Frequent (79-30%) HP:0030711
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 myelomeningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002475
11 syringomyelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003396
12 hemisacrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0009790
13 persistent cloaca 58 31 occasional (7.5%) Occasional (29-5%) HP:0012621
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%)

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
Maternal factors in the origin of isolated anorectal malformations - a population-based case-control study. 61
26372250 2016
2
Birth outcomes of patients with isolated anorectal malformations: A population-based case-control study. 61
26259501 2016
3
Isolated imperforate anus in monozygotic twins: case report and implications. 61
15793704 2005
4
Urodynamic evaluation of children with the caudal regression syndrome (caudal dysplasia sequence). 61
8126785 1994

Variations for Isolated Anorectal Malformation

Expression for Isolated Anorectal Malformation

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

Pathways for Isolated Anorectal Malformation

GO Terms for Isolated Anorectal Malformation

Sources for Isolated Anorectal Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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