Familial visceral myopathy
Synonyms: Familial hollow visceral myopathy · Hereditary hollow visceral myopathy · Megaduodenum and/or megacystis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that may cause chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial visceral myopathy | Familial hollow visceral myopathy · Hereditary hollow visceral myopathy · Megaduodenum and/or megacystis |
| fr | Myopathie viscérale familiale | Syndrome de mégaduodénum-mégavessie |
| de | Myopathie, familiäre viszerale | Megaduodenum und/oder Megazystis |
| es | Miopatía visceral familiar | Megaduodeno y/o megavesícula · Miopatía visceral hueca familiar · Miopatía visceral hueca hereditaria |
| it | Miopatia viscerale familiare | Megaduodeno e/o megacisti · Miopatia ereditaria da viscere cave · Miopatia familiare da viscere cave |
| nl | Familiale viscerale myopathie | Erfelijke holle viscerale myopathie · Familiale holle viscerale myopathie · Megaduodenum en/of megacystis |
| pt | Miopatia visceral familiar | Megaduodeno e/ou megabexiga |
| pl | Rodzinna miopatia trzewna | Dwunastnica olbrzymia i/lub pęcherz olbrzymi · Dziedziczna miopatia narządów trzewnych ze światłem · Rodzinna miopatia narządów trzewnych ze światłem |
| cs | Familiární viscerální myopatie | Megaduodenum a/nebo megacystitis |
| uk | Сімейна вісцеральна міопатія | Сімейна порожниста вісцеральна міопатія · Спадкова порожниста вісцеральна міопатія · Мегадуоденум та/або мегацистис |
| zh | 家族性内脏肌病 | 遗传性空腔脏器肌病 |
| tr | Ailesel viseral miyopati | Megaduodenum ve/veya megakist · Ailesel içi boş viseral miyopati · Kalıtsal içi boş viseral miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155310 | NTBT | not yet validated | |
| OMIM | 619350 | BTNT | validated | |
| ICD-10 | K56.0 | NTBT | attributed | validated |
| ICD-11 | DA90.2 | NTBT | index | validated |
| MONDO | 0016829 | E | validated | |
| MeSH | C562574 | E | validated | |
| UMLS | C0266833 | E | validated | |
| GARD | 3443 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:104009Rare disease involving intestinal motility
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACTG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:145 | ENSG00000163017 | 102545 | 2p13.1 | actin gamma 2, smooth muscle | 22960657[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000072 | Hydroureter | |
| HP:0000021 | Megacystis | |
| HP:0000076 | Vesicoureteral reflux | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| Occasional (29-5%) | ||
| HP:0003363 | Abdominal situs inversus | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0001798 | Anonychia | |
| HP:0000463 | Anteverted nares | |
| HP:0001166 | Arachnodactyly | |
| HP:0000337 | Broad forehead | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000175 | Cleft palate | |
| HP:0000843 | Hyperparathyroidism | |
| HP:0001387 | Joint stiffness | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000774 | Narrow chest | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000311 | Round face | |
| HP:0001537 | Umbilical hernia | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2604
- This record as JSON: /data/d/2604.json