ORPHA:2241
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Synonyms: Berdon syndrome · MMIHS · Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Megacystis-microcolon-intestinal hypoperistalsis syndrome | Berdon syndrome · MMIHS · Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome |
| fr | Syndrome d'hypopéristaltisme intestinal-microcôlon-mégavessie | MMIHS · Syndrome d'hypopéristaltisme intestinal-mégavessie-microcôlon-hydronéphrose · Syndrome de Berdon |
| de | Megazystis-Mikrokolon-intestinale Hypoperistaltik-Syndrom | Berdon-Syndrom · MMIHS · Megazystis - Mikrokolon - intestinale Hypoperistaltik - Hydronephrose |
| es | Síndrome de megavejiga-microcolon-hipoperistaltismo intestinal | Síndrome de Berdon · Síndrome de megavejiga-microcolon-hipoperistaltismo intestinal-hidronefrosis |
| it | Sindrome megacisti-microcolon-ipoperistalsi intestinale | Sindrome di Berdon · Sindrome megacisti-microcolon-ipoperistalsi intestinale-idronefrosi |
| nl | Megacystis - microcolon - intestinale hypoperistaltiek-syndroom | Berdonsyndroom · Megacystis - microcolon - intestinale hypoperistaltiek - hydronefrose-syndroom |
| pt | Síndrome de megacistis-microcólon-hipoperistaltismo intestinal | Síndrome Berdon · Síndrome de megacistis-microcólon-hipoperistaltismo intestinal-hidronefrose |
| pl | Zespół pęcherza moczowego olbrzymiego, hipolplazji jelita grubego i zmniejszonej perystaltyki jelit | MMIHS · Zespół Berdona · Zespół pęcherz moczowy olbrzymi-niedorozwój jelita grubego-spowolnienie perystaltyki jelit-wodonercze |
| cs | Syndrom zahrnující megacystis, mikrokolon a hypoperistaltiku střev | MMIHS · Berdonův syndrom · Syndrom zahrnující megacystis, mikrokolon, hypoperistaltiku střev a hydronefrózu |
| uk | Синдром мегацистиса-мікрокишечника-гіпоперистальтики кишечника | Синдром Бердона · Синдром мегацистісу-мікрокишечника-гіпоперистальтики кишечника-гідронефрозу · MMIHS |
| zh | 巨膀胱-小结肠-肠蠕动迟缓综合征 | 巨膀胱-小结肠-肠蠕动迟缓-肾盂积水综合征 |
| tr | Megasistis-mikrokolon-intestinal hipoperistalsis sendromu | MMIHS · Berdon sendromu · Megasistis-mikrokolon-intestinal hipoperistalsis-hidronefroz sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 249210 | BTNT | validated | |
| OMIM | 619351 | BTNT | validated | |
| OMIM | 619362 | BTNT | validated | |
| OMIM | 619365 | BTNT | validated | |
| OMIM | 619431 | BTNT | validated | |
| ICD-10 | Q43.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 100354 | E | validated | |
| MeSH | C536138 | E | validated | |
| UMLS | C1608393 | E | validated | |
| GARD | 3442 | E | validated | |
| MedDRA | 10064596 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:104009Rare disease involving intestinal motility
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMOD1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6647 | ENSG00000163431 | 602715 | 1q32.1 | leiomodin 1 | 28292896[PMID] |
| MYH11 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7569 | ENSG00000133392 | 160745 | 16p13.11 | myosin heavy chain 11 | 25407000[PMID] |
| MYLK | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7590 | ENSG00000065534 | 600922 | 3q21.1 | myosin light chain kinase | 28602422[PMID] |
| ACTG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:145 | ENSG00000163017 | 102545 | 2p13.1 | actin gamma 2, smooth muscle | 24676022[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 230 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0100771 | Hypoperistalsis | |
| HP:0000021 | Megacystis | |
| HP:0004388 | Microcolon | |
| HP:0002017 | Nausea and vomiting | |
| Frequent (79-30%) | ||
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0000072 | Hydroureter | |
| HP:0002566 | Intestinal malrotation | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0001561 | Polyhydramnios | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000028 | Cryptorchidism | |
| HP:0001522 | Death in infancy | |
| HP:0100544 | Neoplasm of the heart | |
| HP:0001539 | Omphalocele | |
| HP:0100806 | Sepsis | |
| HP:0001537 | Umbilical hernia | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2241
- This record as JSON: /data/d/2241.json