INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION
INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT CONGENITAL SHORT BOWEL SYNDROME, X-LINKED, INCLUDED
CIIP, X-LINKED
CIIPX
CIIP
IPOX
Number of Symptoms 23
OrphanetNr:
OMIM Id: 300048
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000126) Hydronephrosis 119 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
4
 (HPO:0000319) Smooth philtrum 72 / 7739
5
 (HPO:0000369) Low-set ears 372 / 7739
6
 (HPO:0001264) Spastic diplegia 24 / 7739
7
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
8
 (HPO:0001250) Seizures 1245 / 7739
9
 (HPO:0002566) Intestinal malrotation 89 / 7739
10
 (HPO:0002021) Pyloric stenosis 51 / 7739
11
 (HPO:0003270) Abdominal distention 46 / 7739
12
 (HPO:0002013) Vomiting 191 / 7739
13
 (HPO:0011968) Feeding difficulties 240 / 7739
14
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
15
 (HPO:0001873) Thrombocytopenia 224 / 7739
16
 (HPO:0011877) Increased mean platelet volume 9 / 7739
17
 (OMIM) Large jaw 1 / 7739
18
 (OMIM) Abnormal gastrointestinal motility 1 / 7739
19
 (OMIM) Facial dysmorphism, mild 3 / 7739
20
 (OMIM) Abnormal argyrophilic neurons in the myenteric and submucosal plexuses 1 / 7739
21
 (OMIM) Chronic intestinal pseudoobstruction 4 / 7739
22
 (MedDRA:10049416) Short-bowel syndrome 2 / 7739
23
 (OMIM) No mechanical intestinal obstructive lesion 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).

Some primary forms of CIIP are ...
Clinical Description OMIM FitzPatrick et al. (1997) reported 2 brothers and a maternal uncle with CIIP. All 3 had a patent duct arteriosus (see 607411), an association which FitzPatrick et al. (1997) pointed out had been reported by Harris et al. ...
Molecular genetics OMIM To select candidate genes for the CIIP in the Italian family of Auricchio et al. (1996), Gargiulo et al. (2007) analyzed the expression in murine fetal brain and intestine of 56 genes from the critical region. They selected ...