Oculogastrointestinal muscular dystrophy
Synonyms: Visceral myopathy-familial external ophthalmoplegia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculogastrointestinal muscular dystrophy | Visceral myopathy-familial external ophthalmoplegia syndrome |
| fr | Dystrophie musculaire oculo-gastro-intestinale | Syndrome de myopathie viscérale familiale-ophtalmoplégie externe |
| de | Okulo-gastro-intestinale Muskeldystrophie | Myopathie, familiäre viszerale mit externer Ophtalmoplegie |
| es | Distrofia muscular óculo-gastrointestinal | |
| it | Distrofia muscolare oculogastrointestinale | Miopatia viscerale familiare - oftalmoplegia esterna |
| nl | Oculogastro-intestinale spierdystrofie | Viscerale myopathie - familiale externe oftalmoplegie-syndroom |
| pt | Distrofia muscular óculo-gastro-intestinal | Miopatia visceral-oftalmoplegia externa familiar |
| pl | Dystrofia mięśniowa oczno-żołądkowo-jelitowa | Miopatia trzewna - rodzinna zewnętrzna oftalmoplegia |
| cs | Okulogastrointestinální svalová dystrofie | Syndrom zahrnující viscerální myopatii a familiární externí oftalmoplegii |
| uk | Окуло-гастроінтестинальна мязова дистрофія | Синдром вісцеральної міопатії-сімейної зовнішньої офтальмоплегії |
| zh | 眼肠肌营养不良 | 内脏肌病-家族性眼外肌麻痹 |
| tr | Okülogastrointestinal kas distrofisi | Viseral miyopati-ailesel eksternal oftalmopleji sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277320 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | DA90.2 | NTBT | index | validated |
| MONDO | 0010181 | E | validated | |
| MeSH | C536350 | E | validated | |
| UMLS | C1848586 | E | validated | |
| GARD | 5496 | 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 (4):
- ORPHA:104009Rare disease involving intestinal motility
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:522522Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
rare genetic diseases - ORPHA:519347Rare neuromuscular disorder with ocular motility/alignment anomaly
rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 3366929[PMID] | |
| 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.
HPO phenotypes
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0004295 | Abnormality of the gastric mucosa | |
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0004326 | Cachexia | |
| HP:0000544 | External ophthalmoplegia | |
| HP:0002578 | Gastroparesis | |
| HP:0004389 | Intestinal pseudo-obstruction | |
| HP:0002024 | Malabsorption | |
| HP:0003198 | Myopathy | |
| HP:0000508 | Ptosis | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0005203 | Spontaneous esophageal perforation | |
| Occasional (29-5%) | ||
| HP:0001633 | Abnormal mitral valve morphology | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1876
- This record as JSON: /data/d/1876.json