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ARM
MCID: ANS023
MIFTS: 58

Anus, Imperforate (ARM)

Categories: Fetal diseases, Gastrointestinal diseases, Rare diseases, Reproductive diseases
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Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Anus, Imperforate

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MalaCards integrated aliases for Anus, Imperforate:

Name: Anus, Imperforate 57 43 71
Imperforate Anus 11 19 75 28 5 14
Anorectal Malformations 19 33
Anorectal Malformation 58 75
Anal Atresia 11 19
Congenital or Infantile Occlusion of Anus 11
Congenital Atresia of Anus 11
Anal Stenosis 19
Arm 58

Characteristics:


Inheritance:

Autosomal recessive vs multifactorial 57

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Gastrointestinal diseases Reproductive diseases
See all MalaCards categories (disease lists)
ICD10: 31
ICD11: 33
Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:10488
OMIM® 57 207500
MeSH 43 D001006
NCIt 49 C84784
SNOMED-CT 68 156956004
ICD10 31 Q42.3
MESH via Orphanet 44 C537771
UMLS via Orphanet 72 C3495676
Orphanet 58 ORPHA96346
MedGen 40 C0003466
ICD11 33 942572025
UMLS 71 C0003466
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Summaries for Anus, Imperforate

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GARD: 19 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.

MalaCards based summary: Anus, Imperforate, also known as imperforate anus, is related to vacterl association, x-linked, with or without hydrocephalus and cloacal exstrophy. An important gene associated with Anus, Imperforate is MED12 (Mediator Complex Subunit 12), and among its related pathways/superpathways are Gastrulation and Neural Stem Cells and Lineage-specific Markers. The drugs Anesthetics and Bisacodyl have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, colon and eye, and related phenotypes are hearing impairment and anal atresia

Wikipedia: 75 An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is... more...

More information from OMIM: 207500
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Related Diseases for Anus, Imperforate

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

(show top 50) (show all 599)
# Related Disease Score Top Affiliating Genes
1 vacterl association, x-linked, with or without hydrocephalus 32.3 ZIC3 FOXF1 FANCB
2 cloacal exstrophy 32.1 SHH MNX1
3 culler-jones syndrome 32.0 SHH GLI3 GLI2
4 sacral defect with anterior meningocele 31.9 SHH MNX1 HOXD13 FGF8 CYP26A1
5 pallister-hall syndrome 31.7 ZIC3 SHH SALL1 MTHFSD IFT27 HOXD13
6 townes-brocks syndrome 31.7 SHH SALL1 HOXD13 GLI3 FRAS1 FGF8
7 omphalocele 31.5 SHH MNX1 FOXF1
8 vater/vacterl association 31.2 HOXD13 FOXF1
9 renal hypodysplasia/aplasia 1 30.9 SALL1 FRAS1 FGF8 CHD7
10 polydactyly 30.9 SHH MNX1 IFT27 HOXD13 GLI3 GLI2
11 vesicoureteral reflux 30.9 ZIC3 SALL1 FRAS1 FGF8
12 hypospadias 30.9 SHH HOXD13 FGF8
13 cryptorchidism, unilateral or bilateral 30.7 SHH GLI3 FGF8 CHD7 CFAP47
14 heart septal defect 30.7 ZIC3 FGF8 CHD7 CFAP47
15 duodenal atresia 30.7 ZIC3 SHH MTHFSD FOXF1
16 neural tube defects 30.6 ZIC3 SHH MNX1 GLI3 FGF8 CYP26A1
17 ventricular septal defect 30.5 ZIC3 FOXF1 FGF8 CHD7
18 patent ductus arteriosus 1 30.5 ZIC3 FOXF1 CHD7
19 esophageal atresia 30.5 ZIC3 SHH MTHFSD HOXD13 GLI3 GLI2
20 diaphragmatic hernia, congenital 30.4 SHH GLI3 FRAS1 FOXF1 CYP26A1
21 currarino syndrome 30.4 SHH MNX1 HOXD13
22 craniosynostosis 30.3 SHH GLI3 GLI2 FGF8 CFAP47
23 apert syndrome 30.3 SHH GLI3 FGF8 CFAP47
24 charge syndrome 30.3 ZIC3 GLI3 FGF8 CHD7
25 chromosome 2q35 duplication syndrome 30.2 SHH SALL1 HOXD13 GLI3 GLI2 FRAS1
26 visceral heterotaxy 30.2 ZIC3 SHH IFT27 GLI3
27 atrial heart septal defect 30.2 ZIC3 SHH FOXF1 CHD7 CFAP47
28 teratoma 30.2 SHH MNX1 CTNNB1
29 feingold syndrome 1 30.2 SHH MTHFSD GLI3 FOXF1 CHD7
30 pancreas, annular 30.1 ZIC3 SHH MTHFSD FOXF1
31 holoprosencephaly 3 30.1 SHH MNX1 GLI3 GLI2
32 patau syndrome 30.1 ZIC3 SHH GLI2 CHD7
33 choanal atresia, posterior 30.1 SPINT2 SHH FGF8 CHD7 CFAP47
34 tetralogy of fallot 30.0 ZIC3 SHH FOXF1 FGF8 CHD7
35 synostosis 30.0 SHH HOXD13 GLI3 FRAS1 FGF8 CFAP47
36 double outlet right ventricle 30.0 ZIC3 SHH FGF8 CHD7
37 skin carcinoma 30.0 SHH GLI3 GLI2 CTNNB1
38 cleft palate, isolated 30.0 ZIC3 SHH GLI3 GLI2 FRAS1 FGF8
39 treacher collins syndrome 1 29.9 FRAS1 FGF8 CHD7 CFAP47
40 coloboma of macula 29.9 SHH SALL1 GLI3 FRAS1 FGF8 CHD7
41 vacterl association 29.7 ZIC3 SHH SALL1 MTHFSD MNX1 HOXD13
42 anus disease 29.7 ZIC3 SHH SALL1 MTHFSD MNX1 HOXD13
43 opitz-kaveggia syndrome 11.7
44 oeis complex 11.6
45 opitz gbbb syndrome 11.5
46 lumbar syndrome 11.4
47 bifid nose with or without anorectal and renal anomalies 11.4
48 blepharocheilodontic syndrome 1 11.4
49 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction 11.4
50 townes-brocks syndrome 1 11.3

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



Diseases related to Anus, Imperforate
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Symptoms & Phenotypes for Anus, Imperforate

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Human phenotypes related to Anus, Imperforate:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 30 HP:0000365
2 anal atresia 30 HP:0002023
3 hypospadias 30 HP:0000047
4 ectopic anus 30 HP:0004397

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
G I:
anal atresia

Clinical features from OMIM®:

207500 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Anus, Imperforate:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.46 CHD7 CTNNB1 CYP26A1 FANCB FGF8 FOXF1
2 nervous system MP:0003631 10.41 CHD7 CTNNB1 CYP26A1 FGF8 GLI2 GLI3
3 limbs/digits/tail MP:0005371 10.38 CHD7 CTNNB1 CYP26A1 FGF8 FRAS1 GLI2
4 digestive/alimentary MP:0005381 10.36 CHD7 CTNNB1 CYP26A1 FGF8 FOXF1 FRAS1
5 embryo MP:0005380 10.35 CHD7 CTNNB1 CYP26A1 FGF8 FOXF1 GLI2
6 cellular MP:0005384 10.33 CFAP47 CHD7 CTNNB1 FANCB FGF8 FOXF1
7 endocrine/exocrine gland MP:0005379 10.31 CHD7 CTNNB1 FANCB FGF8 FOXF1 GLI2
8 normal MP:0002873 10.28 CTNNB1 CYP26A1 FGF8 GLI2 GLI3 MED12
9 cardiovascular system MP:0005385 10.24 CHD7 CTNNB1 CYP26A1 FGF8 FOXF1 FRAS1
10 muscle MP:0005369 10.2 CHD7 CTNNB1 FGF8 FOXF1 GLI2 HOXD13
11 no phenotypic analysis MP:0003012 10.18 CTNNB1 CYP26A1 FRAS1 GLI2 GLI3 HOXD13
12 renal/urinary system MP:0005367 10.16 CTNNB1 CYP26A1 FGF8 FRAS1 GLI3 HOXD13
13 hearing/vestibular/ear MP:0005377 10.13 CHD7 CTNNB1 FGF8 GLI2 GLI3 SALL1
14 craniofacial MP:0005382 10.13 CHD7 CTNNB1 FGF8 FRAS1 GLI2 GLI3
15 respiratory system MP:0005388 10.06 CHD7 CTNNB1 FGF8 FOXF1 FRAS1 GLI2
16 reproductive system MP:0005389 10.03 CFAP47 CHD7 CTNNB1 CYP26A1 FANCB FGF8
17 skeleton MP:0005390 10 CHD7 CTNNB1 CYP26A1 FGF8 FRAS1 GLI2
18 vision/eye MP:0005391 9.65 CHD7 CTNNB1 FGF8 FRAS1 GLI2 GLI3
19 mortality/aging MP:0010768 9.55 CHD7 CTNNB1 CYP26A1 FGF8 FOXF1 FRAS1
Sources

Drugs & Therapeutics for Anus, Imperforate

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics Phase 3
2
Bisacodyl Approved 603-50-9 2391
3 Cola
4 Anti-Bacterial Agents
5 Antibiotics, Antitubercular
6 Cathartics
7 Central Nervous System Stimulants
8 Laxatives

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 NASHA/Dx as a Perianal Implant for the Treatment of Persistent Fecal Incontience After Anorectal Malformation Completed NCT03746834 Phase 4
2 The Use of Indocyanine Green Angiography in Pediatric Colorectal Surgery: A Feasibility Randomized Controlled Trial Recruiting NCT04904081 Phase 3 Indocyanine green
3 Long-term Outcome in Patients Operated for Congenital Anorectal Malformations Unknown status NCT02624232
4 Laparoscopically Assisted Anorectal Pull-through Versus Posterior Sagittal Anorectoplasty for High and Intermediate Anorectal Malformations : A Comparative Study Unknown status NCT03174028
5 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Completed NCT02296008
6 National Study on the Quality of Life of Patients With Anorectal Malformation (MARQOL) Completed NCT02029248
7 Study of Antenatal and Postnatal Data of Anorectal Malformations Diagnosed at Montpellier University Hospital Over a 10-year Period (2010-2020) : Why and How to Improve Antenatal Counseling ? Completed NCT05045560
8 Urodynamic Evaluation in Patients With Anorectal Malformation According to Spinal Cord Abnormalities Completed NCT00909415
9 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Completed NCT03666767
10 Paediatric Surgery Across Sub-Saharan Africa: A Multi-Centre Prospective Cohort Study Completed NCT03185637
11 Comparative Study of the House Advancement Flap, Rhomboid Flap, and Y-V Anoplasty in Treatment of Anal Stenosis: A Prospective Randomized Study Completed NCT00883571
12 Translation and Validation of the Hirschsprung and Anorectal Malformation Quality of Life (HAQL) Questionnaire in a Danish Hirschsprung Population Completed NCT04730128
13 Sacral Nerve Stimulation in Children and Adolescents With Chronic Constipation: a Case-control Study on Invasive and Non-invasive Neuromodulatory Treatment Recruiting NCT04713085
14 Non-invasive Sacral Nerve Stimulation in Children and Adolescents With Chronic Constipation: a Case-control Study on External Neuromodulatory Treatment Recruiting NCT04710433
15 A Prospective Tolerability and Safety Study of a Powdered Human Milk-based Breastmilk Fortifier (Neokare) in Neonates With Gastrointestinal Problems Recruiting NCT05293353
16 Longterm Outcomes of Individuals With Anorectal Malformations Recruiting NCT04901819
17 Long-term Qualitative and Quantitative Outcomes of Children With Hirschsprung's Disease and Anorectal Malformations Recruiting NCT05450991
18 Strategies for Predicting the Efficacy of Sacral Nerve Stimulation With Pelvic Floor Rehabilitation in the Management of Fecal Incontinence After Surgery of Anorectal Malformation. Active, not recruiting NCT05621629
19 Transition of Care for Patients With Hirschsprung Disease and Anorectal Malformations Enrolling by invitation NCT04106947
20 Anoplasty for Post Hemorroidectomy Anal Stenosis : Diamond Versus V-Y Flap Techniques Not yet recruiting NCT05389475

Search NIH Clinical Center for Anus, Imperforate

Cochrane evidence based reviews: anus, imperforate

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Genetic Tests for Anus, Imperforate

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Genetic tests related to Anus, Imperforate:

# Genetic test Affiliating Genes
1 Imperforate Anus 28
Sources

Anatomical Context for Anus, Imperforate

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Organs/tissues related to Anus, Imperforate:

MalaCards : Spinal Cord, Colon, Eye, Kidney, Heart, Smooth Muscle, Uterus
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Publications for Anus, Imperforate

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Articles related to Anus, Imperforate:

(show top 50) (show all 4513)
# Title Authors PMID Year
1
Familial imperforate anus: Report of a family. 62 57
4852015 1974
2
Imperforate anus and heredity. 62 57
5505692 1970
3
Familial anorectal anomalies. 57
13780159 1961
4
OEIS complex-using MRI in diagnostic: Two case reports. 62
36411851 2023
5
Pelvic exams and cervical cancer screening in patients with anorectal malformations. 62
36107236 2022
6
Post-operative colonic manometry in children with anorectal malformations: A systematic review. 62
35699343 2022
7
Talking about sexuality with your own child. The perspective of the parents of children born with arm. 62
36129534 2022
8
Advances in the Management of the Neonate Born with an Anorectal Malformation. 62
36328611 2022
9
Urological Impact of Epididymo-orchitis in Patients with Anorectal Malformation: An ARM-Net Consortium Study. 62
35073590 2022
10
Transcriptome analysis reveals the spinal expression profiles of non-coding RNAs involved in anorectal malformations in rat fetuses. 62
35725663 2022
11
Surgical management strategy of alimentary tract duplication involving the rectum in children. 62
36459267 2022
12
Analysis of the efficacy of biofeedback for faecal incontinence after surgery for anorectal malformation. 62
36039487 2022
13
Caudal regression syndrome: Postnatal radiological diagnosis with literature review of 83 cases. 62
36204402 2022
14
Laser hemorrhoidoplasty for hemorrhoidal disease: a systematic review and meta-analysis. 62
36094598 2022
15
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. 62
36474027 2022
16
Perioperative outcomes in minimally-invasive versus open surgery in infants undergoing repair of congenital anomalies. 62
35985848 2022
17
Sexual function and fertility of adult males with anorectal malformations or Hirschsprung disease. 62
36151340 2022
18
Long-term outcomes of adult patients following surgery for congenital colorectal conditions: analysis of psychosocial functioning. 62
36127514 2022
19
Clinical and genetic approach in the characterization of newborns with anorectal malformation. 62
36062518 2022
20
Patient-reported urinary outcomes in adult males with congenital colorectal conditions. 62
36151341 2022
21
Do adult patients with congenital colorectal conditions know their diagnosis? 62
36129533 2022
22
Levobupivacaine plasma concentrations following repeat caudal anesthetics. 62
36106368 2022
23
Currarino syndrome - a pre and post natal diagnosis correlation: case report and literature review. 62
33618589 2022
24
Perioperative outcomes of laparoscopically assisted anorectoplasty versus conventional procedures for anorectal malformation: a retrospective nationwide database study. 62
36102983 2022
25
Stricture rate in patients after the repair of anorectal malformation following a standardized dilation protocol. 62
36107235 2022
26
Fibrofatty filum terminale: long-term outcomes from a Singapore children's hospital. 62
36461829 2022
27
Surgical management of Currarino syndrome in elderly patient with infected pre-sacral mass: Technical nuances and review of literature. 62
36265244 2022
28
Long term outcome of antegrade colonic enema (ACE) stoma for treatment of constipation and fecal incontinence in children. 62
35995634 2022
29
Effects of extensive mobilization and tension anastomosis in anorectal reconstruction (experimental study). 62
36441276 2022
30
Outcome of a modified Park's submucosal hemorrhoidectomy versus Milligan-Morgan for grade III-IV circumferential prolapsed hemorrhoids. 62
34840045 2022
31
Prevalence and mortality among children with anorectal malformation: A multi-country analysis. 62
36401554 2022
32
Delayed Surgical Management of an Unusual Classic Bladder Exstrophy Variant. 62
36436675 2022
33
Clinical features of Mayer-Rokitansky-Küster-Haüser syndrome diagnosed at under 16 years old: results from a questionnaire survey conducted on all institutions of pediatric surgery and pediatric urology in Japan. 62
36029342 2022
34
One-stage versus staged laparoscopic-assisted anorectoplasty for high-and intermediate anorectal malformations: Medium-term outcomes from a propensity score matching analysis. 62
35151499 2022
35
miR-141-3p affects β-catenin signaling and apoptosis by targeting Ubtd2 in rats with anorectal malformations. 62
36328940 2022
36
Sparing the Perineal Body, A Modification of the Posterior Sagittal Anorectoplasty (PSARP) for Anorectal Malformations with Rectovestibular Fistulae. 62
36356590 2022
37
Embryology and anatomy of anorectal malformations. 62
36417783 2022
38
An infant with LUMBAR syndrome complicated by severe perineal ulceration managed with diverting colostomy. 62
36373214 2022
39
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations. 62
36319675 2022
40
Prenatal Diagnosis of Bladder Exstrophy and OEIS over 20 Years. 62
36460061 2022
41
Six-month survival of a monochorionic monoamniotic twin with sirenomelia. 62
35437955 2022
42
Congenital Pouch Colon: Further Histopathological Perspectives. 62
34766541 2022
43
Congenital pouch colon: Case report and literature review. 62
36268354 2022
44
Prediction of anorectal malformations with bladder-neck/urethral-prostatic fistula using classification and regression tree analysis. 62
36200652 2022
45
Detection and Management of Tethered Cord in Anorectal Malformation: A Survey of Pediatric Neurosurgeons in the United States. 62
36257293 2022
46
Delayed complication due to retained contrast following augmented pressure distal loop colostogram in anorectal malformation. 62
36018212 2022
47
Patient-reported physical and psychosocial significance of abdominal scarring in anorectal malformations. 62
34991868 2022
48
A congenital long rectoscrotal fistula: A rare variant. 62
35912295 2022
49
Hypospadias and anorectal malformation: A difficult combination. 62
36379749 2022
50
[Risk factors of postoperative voiding dysfunction in children with congenital anorectal malformation]. 62
36229205 2022
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Variations for Anus, Imperforate

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ClinVar genetic disease variations for Anus, Imperforate:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 7 genes GRCh37/hg19 22q11.22-11.23(chr22:22971867-23643138) CN LOSS Pathogenic
 638672 GRCh37: 22:22971867-23643138
GRCh38:
2 MED12 NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) SNV Pathogenic
 11520 rs80338758 GRCh37: X:70347217-70347217
GRCh38: X:71127367-71127367
3 CTNNB1 NM_001904.4(CTNNB1):c.1876G>T (p.Glu626Ter) SNV Likely Pathogenic
 523403 rs1553632357 GRCh37: 3:41277912-41277912
GRCh38: 3:41236421-41236421
4 TBXAS1 GRCh37/hg19 7q34(chr7:139478979-139550968) CN GAIN Uncertain Significance
 638674 GRCh37: 7:139478979-139550968
GRCh38:
5 GABRG3 GRCh37/hg19 15q12(chr15:27462869-27544157) CN GAIN Uncertain Significance
 638675 GRCh37: 15:27462869-27544157
GRCh38:
6 SLC9A4 GRCh37/hg19 2q12.1(chr2:103090517-103148433) CN LOSS Uncertain Significance
 638673 GRCh37: 2:103090517-103148433
GRCh38:
7 ROBO1 NM_002941.4(ROBO1):c.1400C>T (p.Ala467Val) SNV Uncertain Significance
 1338794 GRCh37: 3:78719394-78719394
GRCh38: 3:78670244-78670244
Sources

Expression for Anus, Imperforate

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

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Pathways related to Anus, Imperforate according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Gastrulation 66
Show member pathways
 11.71 SHH FOXF1 CTNNB1
2
Neural Stem Cells and Lineage-specific Markers 65
11.55 SHH MNX1 FGF8
4
Heart development 74
11.28 SHH FGF8 CTNNB1
5
Hedgehog signaling pathway 74
11.2 SHH GLI3 GLI2
6
Hedgehog signaling events mediated by Gli proteins 61
11.12 SHH GLI3 GLI2
7
Signaling events mediated by the Hedgehog family 61
Show member pathways
 11.05 SHH GLI3 GLI2
8
Dopaminergic neurogenesis 74
10.91 SHH GLI2 FGF8
9
Genes controlling nephrogenesis 74
10.9 SHH GLI3 FGF8 CTNNB1
10
Development of ureteric collection system 74
10.67 SHH SALL1 GLI3 GLI2 FRAS1
11
Tgif disruption of Shh signaling 74
Show member pathways
 10.33 SHH GLI3 FGF8
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GO Terms for Anus, Imperforate

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Cellular components related to Anus, Imperforate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary tip GO:0097542 9.43 IFT27 GLI3 GLI2
2 GLI-SUFU complex GO:1990788 8.8 GLI3 GLI2

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

(show top 50) (show all 85)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.62 CHD7 CTNNB1 FOXF1 GLI2 GLI3 HOXD13
2 positive regulation of DNA-templated transcription GO:0045893 10.57 ZIC3 SHH SALL1 MED12 GLI3 GLI2
3 in utero embryonic development GO:0001701 10.37 GLI3 GLI2 FOXF1 CTNNB1 CHD7
4 central nervous system development GO:0007417 10.29 ZIC3 SHH MNX1 GLI3 CHD7
5 skeletal system development GO:0001501 10.28 ZIC3 HOXD13 GLI2 CTNNB1 CHD7
6 heart looping GO:0001947 10.24 ZIC3 SHH FGF8
7 regulation of cell population proliferation GO:0042127 10.24 SHH HOXD13 GLI3 CTNNB1
8 odontogenesis of dentin-containing tooth GO:0042475 10.23 SHH GLI3 GLI2 CTNNB1
9 T cell differentiation in thymus GO:0033077 10.22 SHH GLI3 CTNNB1
10 oligodendrocyte differentiation GO:0048709 10.22 SHH GLI3 CTNNB1
11 neuroblast proliferation GO:0007405 10.21 SHH GLI3 CTNNB1
12 metanephros development GO:0001656 10.2 SHH GLI3 FGF8
13 branching involved in blood vessel morphogenesis GO:0001569 10.2 CTNNB1 FGF8 SHH
14 hair follicle morphogenesis GO:0031069 10.2 CTNNB1 GLI2 SHH
15 roof of mouth development GO:0060021 10.19 SHH GLI3 FRAS1 CHD7
16 pancreas development GO:0031016 10.18 SHH FOXF1 CTNNB1
17 positive regulation of neuroblast proliferation GO:0002052 10.18 SHH GLI3 CTNNB1
18 proximal/distal pattern formation GO:0009954 10.18 GLI3 GLI2 CTNNB1
19 neuron differentiation GO:0030182 10.17 ZIC3 SHH GLI3 GLI2 FGF8 CTNNB1
20 vasculogenesis GO:0001570 10.16 SHH FOXF1 CTNNB1
21 embryonic hindlimb morphogenesis GO:0035116 10.16 SHH FGF8 CTNNB1 CHD7
22 chondrocyte differentiation GO:0002062 10.15 GLI3 GLI2 CTNNB1
23 positive regulation of stem cell proliferation GO:2000648 10.14 CTNNB1 FGF8 GLI2
24 determination of left/right symmetry GO:0007368 10.14 ZIC3 SHH FOXF1 FGF8
25 hindbrain development GO:0030902 10.14 CTNNB1 GLI2 SHH
26 anterior/posterior pattern specification GO:0009952 10.14 GLI2 GLI3 HOXD13 SHH ZIC3
27 stem cell proliferation GO:0072089 10.13 CTNNB1 FGF8 GLI2 GLI3 SHH
28 branching involved in ureteric bud morphogenesis GO:0001658 10.13 SHH SALL1 GLI3 FGF8 CTNNB1
29 embryonic digestive tract morphogenesis GO:0048557 10.12 SHH GLI3 FOXF1
30 male genitalia development GO:0030539 10.11 SHH HOXD13 FGF8 CTNNB1
31 cell population proliferation GO:0008283 10.1 SHH GLI3 GLI2 FGF8 CTNNB1
32 developmental growth GO:0048589 10.1 SHH GLI3 GLI2
33 smoothened signaling pathway GO:0007224 10.1 ZIC3 SHH IFT27 GLI3 GLI2 FOXF1
34 branching morphogenesis of an epithelial tube GO:0048754 10.09 GLI2 GLI3 SHH
35 negative regulation of chondrocyte differentiation GO:0032331 10.08 GLI3 GLI2 CTNNB1
36 positive regulation of mesenchymal cell proliferation GO:0002053 10.08 SHH FOXF1 CTNNB1
37 embryonic limb morphogenesis GO:0030326 10.08 SHH HOXD13 GLI3 FRAS1
38 embryonic foregut morphogenesis GO:0048617 10.08 SHH FOXF1 CTNNB1
39 limb morphogenesis GO:0035108 10.07 ZIC3 HOXD13 GLI3 FGF8
40 alpha-beta T cell differentiation GO:0046632 10.06 SHH GLI3
41 camera-type eye development GO:0043010 10.06 SHH GLI3 CHD7
42 lung-associated mesenchyme development GO:0060484 10.06 CTNNB1 SHH
43 epithelial cell proliferation involved in prostate gland development GO:0060767 10.06 CTNNB1 SHH
44 embryonic neurocranium morphogenesis GO:0048702 10.06 MED12 GLI3 FGF8
45 lung lobe morphogenesis GO:0060463 10.05 SHH FOXF1
46 positive regulation of skeletal muscle tissue development GO:0048643 10.05 SHH CTNNB1
47 forebrain dorsal/ventral pattern formation GO:0021798 10.05 GLI3 FGF8
48 skin development GO:0043588 10.05 SHH FRAS1 CTNNB1
49 epithelial tube branching involved in lung morphogenesis GO:0060441 10.05 CTNNB1 FOXF1 SHH
50 mesenchymal cell proliferation involved in lung development GO:0060916 10.04 SHH CTNNB1

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.7 MED12 HOXD13 GLI3 GLI2 CTNNB1 CHD7
2 beta-catenin binding GO:0008013 9.23 SALL1 MED12 GLI3 CTNNB1
Sources

Sources for Anus, Imperforate

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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