MCID: ANS023
MIFTS: 54

Anus, Imperforate

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Anus, Imperforate

MalaCards integrated aliases for Anus, Imperforate:

Name: Anus, Imperforate 57 44 73
Imperforate Anus 12 76 53 29 6 15
Anal Stenosis 53 29
Anal Atresia 12 53
Congenital or Infantile Occlusion of Anus 12
Congenital Atresia of Anus 12
Anorectal Malformations 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive vs. multifactorial


HPO:

32
anus, imperforate:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 207500
Disease Ontology 12 DOID:10488
ICD10 33 Q42.3
MeSH 44 D001006
NCIt 50 C84784
SNOMED-CT 68 14118000
MedGen 42 C0003466
UMLS 73 C0003466

Summaries for Anus, Imperforate

NIH Rare Diseases : 53 Imperforate anus is a birth defect where the opening to the anus is missing or blocked. The anus, also known as the rectum, is the opening at the end of the intestines through which stool (bowel movement) leaves the body. Imperforate anus may end in a pouch, be too narrow (stenotic or atresic), or open into part of the urinary system, female or male reproductive system, or other system of body Symptoms may include absence of the first stool within 24 to 48 hours after birth, no anal opening, anal opening in an abnormal place, stool coming out from the vagina, base of penis, scrotum, or urethra, and/or swollen belly. Although the exact cause of imperforate anus is not fully understood, it is believed to be due to the abnormal development of the rectum when the embryo is forming inside the womb. Many forms of imperforate anus occur with other birth defects. Imperforate anus may also be part of a syndrome with multiple birth defects. Treatment may include colostomy and surgery to correct the defect. Prognosis depends on the severity and type of imperforate anus and the severity and type of any other birth defects.

MalaCards based summary : Anus, Imperforate, also known as imperforate anus, is related to omphalocele and esophageal atresia. An important gene associated with Anus, Imperforate is MED12 (Mediator Complex Subunit 12). The drugs leucovorin and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include colon, liver and kidney, and related phenotypes are hearing impairment and hypospadias

Wikipedia : 76 An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is... more...

Description from OMIM: 207500

Related Diseases for Anus, Imperforate

Diseases related to Anus, Imperforate via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 224)
# Related Disease Score Top Affiliating Genes
1 omphalocele 31.0 GLI3 MNX1
2 esophageal atresia 30.8 GLI3 TEF
3 meningocele 30.5 MNX1 SATB2
4 tracheoesophageal fistula 30.2 GLI3 HOXD13
5 renal hypodysplasia/aplasia 1 30.2 GREB1L SALL1
6 tethered spinal cord syndrome 30.2 KIDINS220 KMT2D MNX1
7 renal hypodysplasia/aplasia 3 29.9 DSTYK GREB1L
8 ankyloblepharon filiforme imperforate anus 12.5
9 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction 12.4
10 high anorectal malformation 12.3
11 low anorectal malformation 12.3
12 intermediate anorectal malformation 12.3
13 chondrodysplasia situs inversus imperforate anus polydactyly 12.3
14 diphallus rachischisis imperforate anus 12.3
15 ankyloblepharon filiforme adnatum-imperforate anus syndrome 12.3
16 pallister-hall syndrome 12.3
17 spondylocostal dysostosis with anal atresia and urogenital anomalies 12.2
18 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia 12.2
19 deafness nephritis anorectal malformation 12.2
20 isolated anorectal malformation 12.2
21 anal atresia, hypospadias, and penoscrotal inversion 12.2
22 cataract-intellectual disability-anal atresia-urinary defects syndrome 12.2
23 bifid nose with or without anorectal and renal anomalies 11.9
24 oeis complex 11.9
25 blepharocheilodontic syndrome 1 11.7
26 exstrophy of bladder 11.7
27 sirenomelia 11.5
28 anorectal anomalies 11.5
29 opitz-kaveggia syndrome 11.5
30 sacrococcygeal teratoma 11.4
31 townes-brocks syndrome 1 11.4
32 opitz gbbb syndrome, type i 11.3
33 vacterl association with hydrocephalus 11.3
34 vacterl association, x-linked, with or without hydrocephalus 11.3
35 even-plus syndrome 11.3
36 manitoba oculotrichoanal syndrome 11.3
37 townes-brocks syndrome 11.3
38 anorectal stricture 11.2
39 opitz gbbb syndrome, type ii 11.2
40 ivic syndrome 11.2
41 johanson-blizzard syndrome 11.2
42 thymic-renal-anal-lung dysplasia 11.2
43 mental retardation, skeletal dysplasia, and abducens palsy 11.2
44 duane-radial ray syndrome 11.2
45 diarrhea 5, with tufting enteropathy, congenital 11.2
46 townes-brocks syndrome 2 11.2
47 blepharocheilodontic syndrome 2 11.2
48 opitz-gbbb syndrome 11.2
49 chromosome 15q24 deletion syndrome 11.2
50 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.2

Graphical network of the top 20 diseases related to Anus, Imperforate:



Diseases related to Anus, Imperforate

Symptoms & Phenotypes for Anus, Imperforate

Symptoms via clinical synopsis from OMIM:

57
G I:
anal atresia


Clinical features from OMIM:

207500

Human phenotypes related to Anus, Imperforate:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 hypospadias 32 HP:0000047
3 anal atresia 32 HP:0002023
4 ectopic anus 32 HP:0004397

GenomeRNAi Phenotypes related to Anus, Imperforate according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.62 MED12
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.62 MED12
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.62 MED12
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.62 MED12
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.62 DSTYK MED12 SALL1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.62 DSTYK
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.62 SALL1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.62 MED12
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.62 SALL1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.62 DSTYK MED12 SALL1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.62 MED12
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.62 SALL1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.62 DSTYK
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.62 MED12
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.62 DSTYK
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.62 MED12

MGI Mouse Phenotypes related to Anus, Imperforate:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.19 GLI3 GREB1L KIDINS220 KMT2D MED12 MNX1
2 cellular MP:0005384 10.08 GLI3 KIDINS220 KMT2D MED12 MNX1 SALL1
3 growth/size/body region MP:0005378 10.07 GLI3 GREB1L HOXD13 KIDINS220 KMT2D MED12
4 mortality/aging MP:0010768 10 GLI3 GREB1L HOXD13 KIDINS220 KMT2D MED12
5 digestive/alimentary MP:0005381 9.98 GLI3 GREB1L HOXD13 MNX1 PIGV SALL1
6 embryo MP:0005380 9.95 GLI3 GREB1L HOXD13 KMT2D MED12 SALL1
7 craniofacial MP:0005382 9.85 GLI3 KMT2D MED12 PIGV SATB2
8 nervous system MP:0003631 9.85 DSTYK GLI3 GREB1L KIDINS220 KMT2D MED12
9 limbs/digits/tail MP:0005371 9.72 GLI3 HOXD13 MED12 SALL1 SATB2
10 renal/urinary system MP:0005367 9.35 GLI3 GREB1L HOXD13 PIGV SALL1
11 skeleton MP:0005390 9.23 GLI3 HOXD13 KMT2D MED12 MNX1 PIGV

Drugs & Therapeutics for Anus, Imperforate

Drugs for Anus, Imperforate (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 3 58-05-9 6006 143
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
3 Vitamin B Complex Phase 3
4 Vitamin B9 Phase 3
5 Vitamins Phase 3,Not Applicable
6 Micronutrients Phase 3,Not Applicable
7 Folate Phase 3
8 Hematinics Phase 3
9 Trace Elements Phase 3,Not Applicable
10 Anesthetics Phase 1, Phase 2
11 lysine Not Applicable
12 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
2 Stem Cells Therapy for Fecal Incontinence in Children After Posterior Sagittal Ano-rectoplasty Unknown status NCT02161003 Phase 1, Phase 2
3 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753 Not Applicable

Search NIH Clinical Center for Anus, Imperforate

Cochrane evidence based reviews: anus, imperforate

Genetic Tests for Anus, Imperforate

Genetic tests related to Anus, Imperforate:

# Genetic test Affiliating Genes
1 Imperforate Anus 29
2 Anal Stenosis 29

Anatomical Context for Anus, Imperforate

MalaCards organs/tissues related to Anus, Imperforate:

41
Colon, Liver, Kidney, Bone, Heart, Skin, Pituitary

Publications for Anus, Imperforate

Articles related to Anus, Imperforate:

(show top 50) (show all 592)
# Title Authors Year
1
Distance Between the Distal Rectal Pouch and Perineum in Neonates of Low-Birth Weight With Imperforate Anus. ( 29112640 )
2018
2
Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect complex, multiple major reconstructive surgeries needed. ( 29416290 )
2018
3
A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations. ( 29704291 )
2018
4
Laparoscopically Assisted Anorectoplasty for Intermediate-Type Imperforate Anus: Comparison of Surgical Outcomes with the Sacroperineal Approach. ( 30277838 )
2018
5
Magnetic resonance imaging (MRI)-assisted laparoscopic anorectoplasty for imperforate anus: a single center experience. ( 27722897 )
2017
6
Neurostimulation for fecal incontinence after correction of repair of imperforate anus. ( 28352637 )
2017
7
A Rare Case of Genital Malformation with Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex-Autopsy Findings. ( 28892921 )
2017
8
Comparison of Diagnostic Accuracy for the Low-Type Imperforate Anus Between Prone Cross-Table Radiography and Sonography. ( 28407270 )
2017
9
Diagnostic Accuracy of Sonography for Detection of a Fistula on the Birth Day in Neonates With an Imperforate Anus: Comparison of Diagnostic Performance Between Suprapubic and Perineal Approaches. ( 28480562 )
2017
10
Sonography for an Imperforate Anus: Approach, Timing of the Examination, and Evaluation of the Type of Imperforate Anus and Associated Anomalies. ( 28480580 )
2017
11
Changes in the Distance Between the Distal Rectal Pouch and Perineum From the Birth Day to the Next Day in Neonates With an Imperforate Anus. ( 28127784 )
2017
12
Is measuring the residual rectourethral fistula during laparoscopically assisted anorectal pull-through for male high/intermediate type imperforate anus beneficial? Mid-term follow-up. ( 28951012 )
2017
13
A child with imperforate anus for twelve years: a case report of neglect and exploitation. ( 29363899 )
2017
14
Sonographic Determination of Type in a Fetal Imperforate Anus. ( 27151904 )
2016
15
Neonate with Imperforate Anus and Meconium Streak Along the Penile Shaft. ( 27450347 )
2016
16
Laparoscopic-Assisted Anorectal Pull-Through for High Imperforate Anus: 14 Years Experience in a Single Center. ( 26981954 )
2016
17
Coccygeal polypoid eccrine nevus associated with imperforate anus and unilateral multicystic kidney dysplasia. ( 27080330 )
2016
18
Imperforate Anus with Fistula Exiting at the Penile Skin. ( 27134930 )
2016
19
Sacral nerve stimulation in the treatment of bowel dysfunction from imperforate anus: A case report. ( 27236579 )
2016
20
Large retroperitoneal pelvic low-grade mucinous neoplasia 25A years after pull-through operation for imperforate anus. ( 27138641 )
2016
21
Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases. ( 27160889 )
2016
22
Vesicostomy and Colostomy in a Premature Neonate With Posterior Urethral Valves, Bilateral Dysplastic Kidneys, and High Imperforate Anus: The Challenge of Stoma Placement. ( 27015939 )
2016
23
Imperforate anus with rectopenile fistula: a case report and systematic review of the literature. ( 27176040 )
2016
24
Surgical Repair of Imperforate Anus: A Report from Haly Abbas (949-982AD). ( 26651280 )
2016
25
Imperforate Anus with Jejunal Atresia Complicated by Intestinal Volvulus: A Case Report. ( 27896167 )
2016
26
Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome. ( 25604768 )
2015
27
Handle with care - &amp;quot;bucket handle&amp;quot; imperforate anus. ( 25662829 )
2015
28
Vaginal anomalies and atresia associated with imperforate anus: diagnosis and surgical management. ( 25746703 )
2015
29
Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome. ( 26279656 )
2015
30
Postoperative megarectum in an adult patient with imperforate anus and rectourethral fistula. ( 25861490 )
2015
31
Access to essential paediatric surgery in the developing world: a case of imperforate anus with rectovaginal and rectocutaneous fistulas left untreated. ( 26490998 )
2015
32
Teaching NeuroImages: Short stature, imperforate anus, and polydactyly: When is a hypothalamic mass an incidentaloma? ( 25870458 )
2015
33
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. ( 26072132 )
2015
34
Enterolith causing bladder outlet obstruction in patient with imperforate anus. A rare case presentation. ( 26627524 )
2015
35
Creation of a neovagina in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and previously corrected rectovestibular fistula concomitant with imperforate anus. ( 25444054 )
2015
36
An infant with PELVIS (perineal hemangioma, external genital malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag) syndrome misdiagnosed as diaper rash. ( 24948350 )
2014
37
Sling left pulmonary artery with patent type IIA tracheobronchial anomaly and imperforate anus. ( 24882045 )
2014
38
Comparison of outcomes between laparoscopy-assisted and posterior sagittal anorectoplasties for male imperforate anus with recto-bulbar fistula. ( 25487490 )
2014
39
More than a gut feeling - sonographic prenatal diagnosis of imperforate anus in a high-risk population. ( 25088160 )
2014
40
A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report. ( 25003932 )
2014
41
Hidden mortality of imperforate anus. ( 24647309 )
2014
42
Breast at back passage-neonatal central perineal accessory breast at the site of an imperforate anus. ( 24515240 )
2014
43
Re: Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: experience with 80 patients. ( 24703152 )
2014
44
An accessory limb with an imperforate anus. ( 25317418 )
2014
45
Complex congenital heart defect, heterotaxy, imperforate anus, and other congenital anomalies in a 27-week infant: a case study. ( 24985112 )
2014
46
Mode of delivery in a woman with previous surgery for imperforate anus. ( 24484400 )
2014
47
Sacral neuromodulation for anorectal dysfunction secondary to congenital imperforate anus: report of two cases. ( 24777351 )
2014
48
Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex). ( 25400352 )
2014
49
Laparoscopy-assisted surgery for male imperforate anus with rectourethral fistula. ( 23989601 )
2013
50
Intestinal-type adenocarcinoma possibly arising from a remnant of the rectovaginal fistula tract formed after intermediate-level imperforate anus repair. ( 24285853 )
2013

Variations for Anus, Imperforate

ClinVar genetic disease variations for Anus, Imperforate:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CTNNB1 NM_001098209.1(CTNNB1): c.1876G> T (p.Glu626Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 41277912: 41277912
2 CTNNB1 NM_001098209.1(CTNNB1): c.1876G> T (p.Glu626Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 41236421: 41236421
3 MED12 NM_005120.2(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh38 Chromosome X, 71127367: 71127367
4 MED12 NM_005120.2(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh37 Chromosome X, 70347217: 70347217

Expression for Anus, Imperforate

Search GEO for disease gene expression data for Anus, Imperforate.

Pathways for Anus, Imperforate

GO Terms for Anus, Imperforate

Biological processes related to Anus, Imperforate according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.91 GLI3 HOXD13 KMT2D MNX1 SALL1 TEF
2 transcription by RNA polymerase II GO:0006366 9.83 GLI3 HOXD13 SATB2 TEF
3 heart development GO:0007507 9.71 GLI3 MED12 SALL1
4 embryonic skeletal system morphogenesis GO:0048704 9.56 GLI3 SATB2
5 neural tube development GO:0021915 9.55 GLI3 MED12
6 limb development GO:0060173 9.51 GLI3 SALL1
7 metanephros development GO:0001656 9.49 GLI3 GREB1L
8 embryonic organ development GO:0048568 9.48 GLI3 MED12
9 limb morphogenesis GO:0035108 9.46 GLI3 HOXD13
10 kidney development GO:0001822 9.43 GLI3 GREB1L SALL1
11 male genitalia development GO:0030539 9.4 GREB1L HOXD13
12 embryonic digestive tract development GO:0048566 9.37 GLI3 SALL1
13 embryonic digit morphogenesis GO:0042733 9.33 GLI3 HOXD13 SALL1
14 prostate gland development GO:0030850 9.32 GLI3 HOXD13
15 positive regulation of transcription by RNA polymerase II GO:0045944 9.17 GLI3 HOXD13 KMT2D MED12 SALL1 SATB2
16 branching involved in ureteric bud morphogenesis GO:0001658 9.13 GLI3 GREB1L SALL1

Molecular functions related to Anus, Imperforate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 GLI3 HOXD13 KMT2D MNX1 SALL1 SATB2
2 DNA-binding transcription factor activity GO:0003700 9.8 GLI3 HOXD13 MNX1 SALL1 TEF
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.73 GLI3 HOXD13 SALL1 SATB2
4 chromatin binding GO:0003682 9.62 GLI3 HOXD13 MED12 SATB2
5 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.56 GLI3 HOXD13 SATB2 TEF
6 sequence-specific DNA binding GO:0043565 9.55 GLI3 HOXD13 MNX1 SATB2 TEF
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.17 GLI3 HOXD13 KMT2D MNX1 SALL1 SATB2
8 beta-catenin binding GO:0008013 9.13 GLI3 MED12 SALL1

Sources for Anus, Imperforate

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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