Hirschsprung disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HSCR Aganglionic megacolon Congenital intestinal aganglionosis |
| Number of Symptoms | 21 |
| OrphanetNr: | 388 |
| OMIM Id: |
142623
600155 600156 606874 606875 608462 611644 613711 613712 |
| ICD-10: |
Q43.1 |
| UMLs: |
C0019569 |
| MeSH: |
D006627 |
| MedDRA: |
10010539 |
| Snomed: |
204739008 360436002 |
Prevalence, inheritance and age of onset:
| Prevalence: | 12.1 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive Multifactorial Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital intestinal motility disorder
-Rare gastroenterologic disease -Rare genetic disease Nonsyndromic intestinal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000407) | Sensorineural hearing impairment | Occasional [Orphanet] | 524 / 7739 | |||
|
|
(HPO:0004362) | Abnormality of enteric ganglion morphology | 1 / 7739 | ||||
|
|
(HPO:0002251) | Aganglionic megacolon | Very frequent [Orphanet] | 78 / 7739 | |||
|
|
(HPO:0100031) | Neoplasm of the thyroid gland | Occasional [Orphanet] | 15 / 7739 | |||
|
|
(HPO:0001172) | Abnormality of the thumb | Occasional [Orphanet] | 103 / 7739 | |||
|
|
(HPO:0004387) | Enterocolitis | 7 / 7739 | ||||
|
|
(HPO:0002017) | Nausea and vomiting | Very frequent [Orphanet] | 134 / 7739 | |||
|
|
(HPO:0003270) | Abdominal distention | 46 / 7739 | ||||
|
|
(HPO:0002013) | Vomiting | 191 / 7739 | ||||
|
|
(HPO:0002027) | Abdominal pain | Very frequent [Orphanet] | 184 / 7739 | |||
|
|
(HPO:0200008) | Intestinal polyposis | Occasional [Orphanet] | 23 / 7739 | |||
|
|
(HPO:0002014) | Diarrhea | Occasional [Orphanet] | 225 / 7739 | |||
|
|
(HPO:0002019) | Constipation | Very frequent [Orphanet] | 194 / 7739 | |||
|
|
(HPO:0005214) | Intestinal obstruction | Very frequent [Orphanet] | 35 / 7739 | |||
|
|
(HPO:0002242) | Abnormality of the intestine | Occasional [Orphanet] | 42 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Occasional [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
|
|
(HPO:0100806) | Sepsis | Occasional [Orphanet] | 48 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 | |||
|
|
(HPO:0012719) | Functional abnormality of the gastrointestinal tract | Very frequent [Orphanet] | 17 / 7739 | |||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|