Anal atresia

Symptom Information:

Symptom ID: HPO:0002023
Synonyms:
Imperforate anus [HPO:0002023]
Anal membrane atresia [Orphanet:26780]
Imperforate anus [Orphanet:26780]
Anal atresia (disorder) [Orphanet:26780]
Imperforate anus (disorder) [Orphanet:26780]
Anus, Imperforate [Orphanet:26780]
Anal atresia [OMIM:Anal atresia]
Imperforate anus [OMIM:Imperforate anus]
Imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula [Orphanet:26780]
Anal atresia [Orphanet:26780]
Anal atresia [MedDRA:10002120]
Anus imperforate [MedDRA:10002120]
Congenital anal atresia [MedDRA:10002120]
Imperforate anus [MedDRA:10002120]
Anal atresia (in 1 of 6 patients) [OMIM:Anal atresia (in 1 of 6 patients)]
Anal atresia (rare) [OMIM:Anal atresia (rare)]
Anal atresia (rare, in males) [OMIM:Anal atresia (rare, in males)]
Imperforate anus (1 patient) [OMIM:Imperforate anus (1 patient)]
Imperforate anus (8%) [OMIM:Imperforate anus (8%)]
Imperforate anus (in some patients) [OMIM:Imperforate anus (in some patients)]
Anorectal agenesis [MedDRA:10056271]
Anorectal agenesis (disorder) [Orphanet:26780]
Anorectal agenesis [Orphanet:26780]
Anorectal atresia [Orphanet:26780]
Rectovesical fistula [MedDRA:10062648]
Vesicorectal fistula (disorder) [Orphanet:26780]
Vesicorectal fistula [Orphanet:26780]
Quality:
Cross references:
Orphanet:26780 "Imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula" [Orphanet:26780]
OMIM: "Anal atresia" [OMIM:Anal atresia]
OMIM: "Imperforate anus" [OMIM:Imperforate anus]
OMIM: "Anal atresia (in 1 of 6 patients)" [OMIM:Anal atresia (in 1 of 6 patients)]
OMIM: "Anal atresia (rare)" [OMIM:Anal atresia (rare)]
OMIM: "Anal atresia (rare, in males)" [OMIM:Anal atresia (rare, in males)]
OMIM: "Imperforate anus (1 patient)" [OMIM:Imperforate anus (1 patient)]
OMIM: "Imperforate anus (8%)" [OMIM:Imperforate anus (8%)]
OMIM: "Imperforate anus (in some patients)" [OMIM:Imperforate anus (in some patients)]
UMLS:C0003466 "Anus, Imperforate" [Orphanet:26780]
UMLS:C0266223 "Anorectal agenesis" [Orphanet:26780]
UMLS:C0266215 "Anorectal atresia" [Orphanet:26780]
UMLS:C0268843 "Vesicorectal fistula" [Orphanet:26780]
Is a (Direct Parents):
Orphanet Abnormality of the anus
Orphanet Rectovaginal fistula
MedDRA Anorectal disorders congenital
HPO         Abnormality of the anus
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the abdomen(HPO:0001438)
          Abnormality of the abdominal organs(HPO:0002012)
             Abnormality of the gastrointestinal tract(HPO:0011024)
                Abnormality of the anus(HPO:0004378)
                   Anal atresia(HPO:0002023)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Gastrointestinal tract disorders congenital(MedDRA:10018018)
       Anorectal disorders congenital(MedDRA:10002577)
          Anal atresia(HPO:0002023)
Database Frequency: 135 / 7739
Resource:

All diseases associated with this symptom:

22q11.2 deletion syndrome (Orphanet:567)
3C syndrome (Orphanet:7)
46,XX disorder of sex development - anorectal anomalies (Orphanet:2973)
AARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
ANORECTAL ANOMALIES (OMIM:107100)
ANUS, IMPERFORATE (OMIM:207500)
ANUS, IMPERFORATE (OMIM:301800)
AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Aarskog-Scott syndrome (Orphanet:915)
Absence deformity of leg - cataract (Orphanet:2310)
Acro-cardio-facial syndrome (Orphanet:2008)
Acro-renal-ocular syndrome (Orphanet:959)
Acrocallosal syndrome (Orphanet:36)
Ankyloblepharon filiforme - imperforate anus (Orphanet:1074)
Antecubital pterygium syndrome (Orphanet:2987)
Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis (Orphanet:1112)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal recessive spondylocostal dysostosis (Orphanet:2311)
Axenfeld-Rieger syndrome (Orphanet:782)
Axial mesodermal dysplasia spectrum (Orphanet:1834)
Baller-Gerold syndrome (Orphanet:1225)
Bardet-Biedl syndrome 12 (OMIM:615989)
Beckwith-Wiedemann syndrome (Orphanet:116)
Beta-ureidopropionase deficiency (Orphanet:65287)
Bilateral renal agenesis (Orphanet:1848)
Blepharo-cheilo-odontic syndrome (Orphanet:1997)
C syndrome (Orphanet:1308)
CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION (OMIM:601389)
CHARGE syndrome (Orphanet:138)
CODAS syndrome (Orphanet:1458)
Cat-eye syndrome (Orphanet:195)
Cataract - intellectual deficit - anal atresia - urinary defects (Orphanet:1381)
Caudal duplication (Orphanet:1756)
Caudal regression sequence (Orphanet:3027)
Cerebro-facio-articular syndrome (Orphanet:314679)
Cloacal exstrophy (Orphanet:93929)
Congenital alveolar capillary dysplasia (Orphanet:210122)
Congenital sodium diarrhea (Orphanet:103908)
Craniorachischisis (Orphanet:63260)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
Currarino triad (Orphanet:1552)
Diabetic embryopathy (Orphanet:1926)
Dihydropyrimidinuria (Orphanet:38874)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal monosomy 10p (Orphanet:1580)
Distal monosomy 13q (Orphanet:1590)
Distal trisomy 15q (Orphanet:1707)
Down syndrome (Orphanet:870)
EEC syndrome (Orphanet:1896)
Emanuel syndrome (Orphanet:96170)
Embryonary disorganization syndrome (Orphanet:1664)
Exstrophy-epispadias complex (Orphanet:322)
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS (OMIM:227255)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
FANCONI ANEMIA, COMPLEMENTATION GROUP O (OMIM:613390)
FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Facial ectodermal dysplasia (Orphanet:1807)
Familial caudal dysgenesis (Orphanet:1768)
Fanconi anemia (Orphanet:84)
Fraser syndrome (Orphanet:2052)
Fryns syndrome (Orphanet:2059)
Fukuda-Miyanomae-Nakata syndrome (Orphanet:2060)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 (OMIM:614749)
Hirschsprung disease - nail hypoplasia - dysmorphism (Orphanet:2153)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Hypoglossia - hypodactyly (Orphanet:989)
IVIC syndrome (Orphanet:2307)
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations (Orphanet:319462)
Isolated Klippel-Feil syndrome (Orphanet:2345)
Isolated anorectal malformation (Orphanet:557)
Jacobsen syndrome (Orphanet:2308)
Johanson-Blizzard syndrome (Orphanet:2315)
KABUKI SYNDROME 1 (OMIM:147920)
Kabuki syndrome (Orphanet:2322)
Limb body wall complex (Orphanet:2369)
Lowe-Kohn-Cohen syndrome (Orphanet:2408)
MELAS (Orphanet:550)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MICROPHTHALMIA, SYNDROMIC 7 (OMIM:309801)
McKusick-Kaufman syndrome (Orphanet:2473)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Melhem-Fahl syndrome (Orphanet:2482)
Methimazole embryofetopathy (Orphanet:1923)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microgastria - limb reduction defect (Orphanet:2538)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
Muscle-eye-brain disease (Orphanet:588)
Nijmegen breakage syndrome (Orphanet:647)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Oculocerebrorenal syndrome (Orphanet:534)
Okamoto syndrome (Orphanet:2729)
Okihiro syndrome (Orphanet:93293)
Omphalocele syndrome, Shprintzen-Goldberg type (Orphanet:3164)
Opitz G/BBB syndrome (Orphanet:2745)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
PANCREATIC INSUFFICIENCY, COMBINED EXOCRINE (OMIM:260450)
PELVIS syndrome (Orphanet:83628)
Pallister-Hall syndrome (Orphanet:672)
Peters-plus syndrome (Orphanet:709)
Pfeiffer syndrome type 2 (Orphanet:93259)
Pfeiffer syndrome type 3 (Orphanet:93260)
Phocomelia, Schinzel type (Orphanet:2879)
Prune belly syndrome (Orphanet:2970)
Radius absent - anogenital anomalies (Orphanet:3016)
Renpenning syndrome (Orphanet:3242)
Ring chromosome 6 (Orphanet:1448)
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB (OMIM:615087)
Schisis association (Orphanet:63862)
Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia (Orphanet:94066)
Short stature - wormian bones - dextrocardia (Orphanet:2863)
Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM:613091)
Sirenomelia (Orphanet:3169)
Skeletal dysplasia - intellectual deficit (Orphanet:1436)
Splenogonadal fusion - limb defects - micrognathia (Orphanet:2063)
Spondylocostal dysostosis - anal and genitourinary malformations (Orphanet:94095)
Syndactyly - telecanthus - anogenital and renal malformations (Orphanet:140952)
TRYPSINOGEN DEFICIENCY (OMIM:614044)
Tetraamelia - multiple malformations (Orphanet:3301)
Tetrasomy 12p (Orphanet:884)
Thymic-renal-anal-lung dysplasia (Orphanet:3326)
Townes-Brocks syndrome (Orphanet:857)
Treacher-Collins syndrome (Orphanet:861)
Trisomy 12p (Orphanet:1699)
Trisomy 18 (Orphanet:3380)
Trisomy 1q (Orphanet:261344)
Ulnar-mammary syndrome (Orphanet:3138)
VACTERL ASSOCIATION WITH HYDROCEPHALUS (OMIM:276950)
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
VACTERL with hydrocephalus (Orphanet:3412)
VACTERL/VATER association (Orphanet:887)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
X-linked Opitz G/BBB syndrome (Orphanet:306597)