Identification of the underlying genes of MMIHS
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
- Gastrointestinal motility and defaecation conditions
- Bladder and bladder neck disorders (excl calculi)
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Identification of the underlying genes of MMIHS
Secondary outcome
none
Background summary
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare
congenital disorder. Patients with MMIHS have a distended, hypotonic urinary
bladder which is not obstructed (the ureters are sometimes dilated and
hydronephrosis can be present), they have hypoperistalsis throughout the entire
gastrointestinal tract causing functional small bowel obstruction, they have a
micro-colon and some patients have intestinal malrotation. To date, around 100
cases have been reported in the literature. As familial cases of MMIHS have
been reported, genetic factors are thought to play a crucial role in the
disease development. In some cases the unaffected parents are consanguineous.
This makes it is likely that MMIHS has an autosomal recessive pattern of
inheritance.
Study objective
Identification of the underlying genes of MMIHS
Study design
Genetic analysis of the DNA of MMIHS patients and family members with
homozygosity mapping and exome sequencing
Study burden and risks
not applicable
Oostersingel 47
Groningen 9700 RB
NL
Oostersingel 47
Groningen 9700 RB
NL
Listed location countries
Age
Inclusion criteria
Patient: Diagnosis of megacystis-microlon-intestinal hypoperistalsis syndrome
Family member: Being a family member of a patient with megacystis-microlon-intestinal hypoperistalsis syndrome
Exclusion criteria
Patient: Not a diagnosis of megacystis-microlon-intestinal hypoperistalsis syndrome
Family member: not being a family member of a patient with megacystis-microlon-intestinal hypoperistalsis syndrome
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL35920.042.11 |