Aganglionic megacolon

Symptom Information:

Symptom ID: HPO:0002251
Synonyms:
Congenital megacolon [HPO:0002251]
Hirschsprung disease [HPO:0002251]
Hirschsprung megacolon [HPO:0002251]
Megacolon [HPO:0002251]
Megadolichocolon [Orphanet:26540]
Megacolon [Orphanet:26540]
Hirschsprung's disease (disorder) [Orphanet:26540]
Macrocolon (disorder) [Orphanet:26540]
Congenital megacolon (disorder) [Orphanet:26540]
Hirschsprung disease 1 [Orphanet:26540]
Hirschsprung Disease [Orphanet:26540]
Aganglionic megacolon [OMIM:Aganglionic megacolon]
Congenital megacolon [OMIM:Congenital megacolon]
Hirschsprung disease [OMIM:Hirschsprung disease]
Hirschsprung megacolon [OMIM:Hirschsprung megacolon]
Megacolon [OMIM:Megacolon]
Dolichocolon/megacolon/megadolichocolon/Hirschsprung's disease [Orphanet:26540]
Congenital megacolon [Orphanet:26540]
Megacolon [MedDRA:10027110]
Acquired megacolon [MedDRA:10027110]
Colon atonic [MedDRA:10027110]
Colonic atony [MedDRA:10027110]
Giant colon [MedDRA:10027110]
Megacolon acquired [MedDRA:10027110]
Megacolon aquired [MedDRA:10027110]
Megacolon NOS [MedDRA:10027110]
Megacolon toxic [MedDRA:10027110]
Megacolon, other than Hirschsprung's [MedDRA:10027110]
Toxic dilatation of colon [MedDRA:10027110]
Colectasia [MedDRA:10027110]
Megarectum [MedDRA:10027110]
Congenital megacolon [MedDRA:10010539]
Aganglionic megacolon [MedDRA:10010539]
Hirschsprung's disease [MedDRA:10010539]
Hirschsprung's disease and other congenital functional disorders of colon [MedDRA:10010539]
Megacolon congenital [MedDRA:10010539]
Pelvirectal achalasia [MedDRA:10010539]
Hirschsprung disease (12%) [OMIM:Hirschsprung disease (12%)]
Hirschsprung disease (16%) [OMIM:Hirschsprung disease (16%)]
Hirschsprung disease (<10%) [OMIM:Hirschsprung disease (<10%)]
Hirschsprung disease (rare) [OMIM:Hirschsprung disease (rare)]
Hirschsprung disease (variable) [OMIM:Hirschsprung disease (variable)]
Dolichocolon [MedDRA:10063917]
Dolichocolon (disorder) [Orphanet:26540]
Dolichocolon [Orphanet:26540]
Quality:
Cross references:
Orphanet:26540 "Dolichocolon/megacolon/megadolichocolon/Hirschsprung's disease" [Orphanet:26540]
OMIM: "Aganglionic megacolon" [OMIM:Aganglionic megacolon]
OMIM: "Congenital megacolon" [OMIM:Congenital megacolon]
OMIM: "Hirschsprung disease" [OMIM:Hirschsprung disease]
OMIM: "Hirschsprung megacolon" [OMIM:Hirschsprung megacolon]
OMIM: "Megacolon" [OMIM:Megacolon]
OMIM: "Hirschsprung disease (12%)" [OMIM:Hirschsprung disease (12%)]
OMIM: "Hirschsprung disease (16%)" [OMIM:Hirschsprung disease (16%)]
OMIM: "Hirschsprung disease (<10%)" [OMIM:Hirschsprung disease (<10%)]
OMIM: "Hirschsprung disease (rare)" [OMIM:Hirschsprung disease (rare)]
OMIM: "Hirschsprung disease (variable)" [OMIM:Hirschsprung disease (variable)]
UMLS:C0025160 "Megacolon" [HPO:0002251]
UMLS:C2931876 "Hirschsprung disease 1" [Orphanet:26540]
UMLS:C0019569 "Hirschsprung Disease" [Orphanet:26540]
UMLS:C0025160 "Megacolon" [Orphanet:26540]
UMLS:C0266198 "Dolichocolon" [Orphanet:26540]
Is a (Direct Parents):
HPO         Abnormality of enteric ganglion morphology
MedDRA Non-mechanical ileus
Orphanet Abnormality of the small intestine
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 intestine(HPO:0002242)
                   Abnormality of enteric ganglion morphology(HPO:0004362)
                      Aganglionic megacolon(HPO:0002251)
       Abnormality of the nervous system(HPO:0000707)
          Abnormality of nervous system morphology(HPO:0012639)
             Abnormality of the autonomic nervous system(HPO:0002270)
                Abnormal autonomic nervous system morphology(HPO:0012331)
                   Abnormality of enteric ganglion morphology(HPO:0004362)
                      Aganglionic megacolon(HPO:0002251)
MedDRA:
Gastrointestinal disorders(MedDRA:10017947)
    Gastrointestinal motility and defaecation conditions(MedDRA:10017977)
       Non-mechanical ileus(MedDRA:10052736)
          Aganglionic megacolon(HPO:0002251)
Database Frequency: 78 / 7739
Resource:

All diseases associated with this symptom:

22q11.2 deletion syndrome (Orphanet:567)
ABCD SYNDROME (OMIM:600501)
Acro-renal-ocular syndrome (Orphanet:959)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
BRESEK syndrome (Orphanet:85284)
Bardet-Biedl syndrome (Orphanet:110)
Bardet-Biedl syndrome 4 (OMIM:615982)
Bardet-Biedl syndrome 7 (OMIM:615984)
Bardet-Biedl syndrome 9 (OMIM:615986)
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME (OMIM:613603)
Cartilage-hair hypoplasia (Orphanet:175)
Cleft palate - short stature - vertebral anomalies (Orphanet:2015)
Congenital alveolar capillary dysplasia (Orphanet:210122)
Corneal anesthesia - deafness - intellectual deficit (Orphanet:1051)
Diabetic embryopathy (Orphanet:1926)
Down syndrome (Orphanet:870)
Familial visceral myopathy (Orphanet:2604)
Fanconi anemia (Orphanet:84)
Fryns syndrome (Orphanet:2059)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIGTOES, AND VENTRICULAR SEPTAL DEFECT (OMIM:235750)
HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 (OMIM:600155)
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5 (OMIM:600156)
Haddad syndrome (Orphanet:99803)
Harrod syndrome (Orphanet:2115)
Hirschsprung disease (Orphanet:388)
Hirschsprung disease - deafness - polydactyly (Orphanet:2155)
Hirschsprung disease - ganglioneuroblastoma (Orphanet:2151)
Hirschsprung disease - nail hypoplasia - dysmorphism (Orphanet:2153)
Hirschsprung disease - type D brachydactyly (Orphanet:2150)
Hyperphosphatasia-intellectual deficiency syndrome (Orphanet:247262)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Joubert syndrome (Orphanet:475)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Joubert syndrome with renal defect (Orphanet:220497)
KID syndrome (Orphanet:477)
L1 syndrome (Orphanet:275543)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
McKusick-Kaufman syndrome (Orphanet:2473)
Melhem-Fahl syndrome (Orphanet:2482)
Metachromatic leukodystrophy (Orphanet:512)
Microgastria - limb reduction defect (Orphanet:2538)
Mowat-Wilson syndrome (Orphanet:2152)
Mowat-Wilson syndrome due to a point mutation (Orphanet:261552)
Mowat-Wilson syndrome due to monosomy 2q22 (Orphanet:261537)
Multiple endocrine neoplasia type 2 (Orphanet:653)
Multiple endocrine neoplasia type 2A (Orphanet:247698)
Multiple endocrine neoplasia type 2B (Orphanet:247709)
NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 (OMIM:613013)
Nager syndrome (Orphanet:245)
Neurologic Waardenburg-Shah syndrome (Orphanet:163746)
Okihiro syndrome (Orphanet:93293)
Ondine syndrome (Orphanet:661)
Orofaciodigital syndrome type 5 (Orphanet:2919)
Pallister-Hall syndrome (Orphanet:672)
Piebald trait - neurologic defects (Orphanet:2885)
Piebaldism (Orphanet:2884)
Rhombencephalosynapsis (Orphanet:59315)
Ring chromosome 10 (Orphanet:1438)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Short-limb skeletal dysplasia with severe combined immunodeficiency (Orphanet:935)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Toriello-Carey syndrome (Orphanet:3338)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
WAARDENBURG SYNDROME, TYPE 4B (OMIM:613265)
WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Waardenburg syndrome (Orphanet:3440)
Waardenburg syndrome type 1 (Orphanet:894)
Waardenburg syndrome type 2 (Orphanet:895)
Waardenburg-Shah syndrome (Orphanet:897)
X-linked complicated corpus callosum dysgenesis (Orphanet:1497)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)