Chronic intestinal pseudo-obstruction

General Information (adopted from Orphanet):

Synonyms, Signs: CIPO
Number of Symptoms 16
OrphanetNr: 2978
OMIM Id: 243180
300048
601223
609629
ICD-10: K59.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital intestinal motility disorder
 -Rare gastroenterologic disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001284) Areflexia 198 / 7739
2
 (HPO:0002066) Gait ataxia 327 / 7739
3
 (HPO:0012639) Abnormality of nervous system morphology Frequent [Orphanet] 25 / 7739
4
 (HPO:0010831) Impaired proprioception 7 / 7739
5
 (HPO:0002495) Impaired vibratory sensation 26 / 7739
6
 (HPO:0001260) Dysarthria 329 / 7739
7
 (HPO:0002250) Abnormality of the large intestine Very frequent [Orphanet] 32 / 7739
8
 (HPO:0005249) Functional intestinal obstruction 3 / 7739
9
 (HPO:0002574) Episodic abdominal pain 10 / 7739
10
 (HPO:0002013) Vomiting 191 / 7739
11
 (HPO:0002021) Pyloric stenosis Frequent [Orphanet] 51 / 7739
12
 (HPO:0002566) Intestinal malrotation Frequent [Orphanet] 89 / 7739
13
 (HPO:0002253) Colonic diverticula 12 / 7739
14
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
15
 (HPO:0011875) Abnormal platelet morphology Occasional [Orphanet] 8 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: