Congenital short bowel syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 26 |
| OrphanetNr: | 2301 |
| OMIM Id: |
300048
615237 |
| ICD-10: |
Q41 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary short bowel syndrome
-Rare gastroenterologic disease -Rare genetic disease Syndromic intestinal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000047) | Hypospadias | Occasional [Orphanet] | 250 / 7739 | |||
|
|
(HPO:0000126) | Hydronephrosis | rare [HPO:skoehler] | 119 / 7739 | |||
|
|
(HPO:0000494) | Downslanted palpebral fissures | 328 / 7739 | ||||
|
|
(HPO:0000319) | Smooth philtrum | 72 / 7739 | ||||
|
|
(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
|
|
(HPO:0000316) | Hypertelorism | 644 / 7739 | ||||
|
|
(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
|
|
(HPO:0001250) | Seizures | rare [HPO:skoehler] | 1245 / 7739 | |||
|
|
(HPO:0001264) | Spastic diplegia | rare [HPO:skoehler] | 24 / 7739 | |||
|
|
(HPO:0002013) | Vomiting | 191 / 7739 | ||||
|
|
(HPO:0004389) | Intestinal pseudo-obstruction | 7 / 7739 | ||||
|
|
(HPO:0003270) | Abdominal distention | 46 / 7739 | ||||
|
|
(HPO:0002021) | Pyloric stenosis | rare [HPO:skoehler] | 51 / 7739 | |||
|
|
(HPO:0002244) | Abnormality of the small intestine | Very frequent [Orphanet] | 12 / 7739 | |||
|
|
(HPO:0008872) | Feeding difficulties in infancy | 153 / 7739 | ||||
|
|
(HPO:0002566) | Intestinal malrotation | Frequent [Orphanet] | 89 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0001006) | Hypotrichosis | Frequent [Orphanet] | 219 / 7739 | |||
|
|
(HPO:0001643) | Patent ductus arteriosus | 228 / 7739 | ||||
|
|
(HPO:0001873) | Thrombocytopenia | 224 / 7739 | ||||
|
|
(HPO:0011877) | Increased mean platelet volume | 9 / 7739 | ||||
|
|
(HPO:0100578) | Lipoatrophy | Frequent [Orphanet] | 30 / 7739 | |||
|
|
(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
|
|
(HPO:0011420) | Death | Frequent [Orphanet] | 184 / 7739 | |||
|
|
(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
|
|
(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|