VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: PSEUDOOBSTRUCTION, CHRONIC IDIOPATHIC INTESTINAL, NEURONAL TYPE NEURONAL INTESTINAL DYSPLASIA, TYPE A, INCLUDED
NID A, INCLUDED
ARGYROPHIL MYENTERIC PLEXUS, DEFICIENCY OF
INTESTINAL PSEUDOOBSTRUCTION DUE TO NEURONAL DISEASE
Number of Symptoms 17
OrphanetNr:
OMIM Id: 243180
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001260) Dysarthria 329 / 7739
2
 (HPO:0001284) Areflexia 198 / 7739
3
 (HPO:0002066) Gait ataxia 327 / 7739
4
 (HPO:0005249) Functional intestinal obstruction 3 / 7739
5
 (HPO:0002566) Intestinal malrotation 89 / 7739
6
 (OMIM) Small intestine short 1 / 7739
7
 (OMIM) Denervation pupillary hypersensitivity 1 / 7739
8
 (OMIM) Episodic abdominal pain, distention and vomiting 1 / 7739
9
 (OMIM) Bowel wall thick 1 / 7739
10
 (OMIM) Myenteric and other neurons contain round, eosinophilic intranuclear proteinaceous inclusions consisting of an irregular array of nonviral, nonmembrane bound filaments by electron microscopy 1 / 7739
11
 (OMIM) Argyrophil myenteric plexus defect 1 / 7739
12
 (OMIM) Pyloric hypertrophy 2 / 7739
13
 (OMIM) Extensive colonic diverticulosis 1 / 7739
14
 (OMIM) Impaired vibratory and position senses 1 / 7739
15
 (OMIM) Small, irregular, poorly reactive pupils 1 / 7739
16
 (OMIM) Absent ongoing peristalsis 1 / 7739
17
 (OMIM) Hyperactive, nonpropulsive contractions of a dilated esophagus and small intestine 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: