Megacystis-microcolon-intestinal hypoperistalsis syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MMIH SYNDROME
MMIHS
berdon syndrome
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
Number of Symptoms 33
OrphanetNr: 2241
OMIM Id: 249210
ICD-10: Q43.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 230 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital intestinal motility disorder
 -Rare gastroenterologic disease
 -Rare genetic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0010956) Fetal megacystis 5 / 7739
2
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
3
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
4
 (HPO:0000110) Renal dysplasia 44 / 7739
5
 (HPO:0000079) Abnormality of the urinary system Very frequent [Orphanet] 88 / 7739
6
 (HPO:0000126) Hydronephrosis 119 / 7739
7
 (HPO:0000107) Renal cyst Frequent [Orphanet] 126 / 7739
8
 (HPO:0000021) Megacystis 7 / 7739
9
 (HPO:0001791) Fetal ascites 4 / 7739
10
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
11
 (HPO:0001562) Oligohydramnios 75 / 7739
12
 (HPO:0003270) Abdominal distention 46 / 7739
13
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
14
 (HPO:0004298) Abnormality of the abdominal wall Very frequent [Orphanet] 20 / 7739
15
 (HPO:0100771) Hypoperistalsis 5 / 7739
16
 (HPO:0002566) Intestinal malrotation Frequent [Orphanet] 89 / 7739
17
 (HPO:0004388) Microcolon 5 / 7739
18
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
19
 (HPO:0002579) Gastrointestinal dysmotility Very frequent [Orphanet] 11 / 7739
20
 (HPO:0002250) Abnormality of the large intestine Frequent [Orphanet] 32 / 7739
21
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
22
 (HPO:0009023) Abdominal wall muscle weakness 12 / 7739
23
 (HPO:0001518) Small for gestational age 107 / 7739
24
 (HPO:0100544) Neoplasm of the heart Occasional [Orphanet] 7 / 7739
25
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
26
 (HPO:0100806) Sepsis Occasional [Orphanet] 48 / 7739
27
 (HPO:0012851) Colonic stenosis Very frequent [Orphanet] 3 / 7739
28
 (OMIM) Abundant intestinal ganglion cells 1 / 7739
29
 (OMIM) Microileum 1 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
32
 (OMIM) Malrotation of the gut 2 / 7739
33
 (MedDRA:10049416) Short-bowel syndrome 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Berdon et al. (1976) first described what they called the megacystis-microcolon-intestinal hypoperistalsis syndrome in 5 female infants, 2 of whom were sisters. All had marked dilatation of the bladder and some had hydronephrosis and the external appearance of ...
Molecular genetics OMIM Because of observations in mice homozygous for disruption of the alpha-3/beta-4 neuronal nicotinic acetylcholine receptor genes (CHRNA3, 118503; CHRNB4, 118509), Lev-Lehman et al. (2001) screened for mutations in these genes, both of which map to human chromosome 15q24, ...