MUNGAN SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: VISCERAL NEUROMYOPATHY, FAMILIAL, WITH PSEUDOOBSTRUCTION, MEGADUODENUM, BARRETT ESOPHAGUS, AND CARDIAC ABNORMALITIES
PSEUDOOBSTRUCTION, CHRONIC IDIOPATHIC INTESTINAL, WITH BARRETT ESOPHAGUS AND CARDIAC ABNORMALITIES
MGS
Number of Symptoms 21
OrphanetNr:
OMIM Id: 611376
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:0000076) Vesicoureteral reflux 94 / 7739
2
(HPO:0000089) Renal hypoplasia 78 / 7739
3
(HPO:0001488) Bilateral ptosis 42 / 7739
4
(HPO:0002270) Abnormality of the autonomic nervous system 22 / 7739
5
(HPO:0100771) Hypoperistalsis 5 / 7739
6
(HPO:0100580) Barrett esophagus 4 / 7739
7
(HPO:0100867) Duodenal stenosis 29 / 7739
8
(HPO:0002247) Duodenal atresia 13 / 7739
9
(HPO:0004389) Intestinal pseudo-obstruction 7 / 7739
10
(HPO:0011682) Perimembranous ventricular septal defect 6 / 7739
11
(HPO:0001642) Pulmonic stenosis 89 / 7739
12
(HPO:0010444) Pulmonary insufficiency 11 / 7739
13
(HPO:0001629) Ventricular septal defect 316 / 7739
14
(HPO:0005180) Tricuspid regurgitation 20 / 7739
15
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
(OMIM) Supravalvular pulmonary stenosis, minimal 1 / 7739
17
(OMIM) Pulmonary valve stenosis, minimal 1 / 7739
18
(OMIM) Pseudoobstruction 2 / 7739
19
(OMIM) Barrett esophagus, long-segment 1 / 7739
20
(OMIM) Visceral neuromyopathy 1 / 7739
21
(OMIM) Aperistalsis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mungan et al. (2003) reported a large consanguineous Turkish family segregating autosomal recessive chronic idiopathic intestinal pseudoobstruction (CIIP) in which 3 sibs had megaduodenum, long-segment Barrett esophagus, and different cardiac abnormalities. Two brothers and a sister, ages 26, ...