Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Synonyms: HIBM3 · Hereditary inclusion body myopathy type 3 · IBM3 · Inclusion body myopathy type 3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Infancy, Neonatal
- Status
- active
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome | HIBM3 · Hereditary inclusion body myopathy type 3 · IBM3 · Inclusion body myopathy type 3 |
| fr | Syndrome héréditaire de myopathie à corps d'inclusions-contractures articulaires-ophtalmoplégie | HIBM3 · Myopathie à corps d'inclusion type 3 · Myopathie à corps d'inclusions héréditaire type 3 · Myopathie à inclusions héréditaire type 3 · Myopathie à inclusions type 3 · Syndrome de myopathie à inclusions héréditaire-contractures articulaires-ophtalmoplégie |
| de | Hereditäre Einschlusskörperchenmyopathie-Gelenkkontrakturen-Ophthalmoplegie-Syndrom | Einschlusskörperchenmyopathie Typ 3 · Einschlusskörperchenmyopathie, hereditäre, Typ 3 · HIBM3 · IBM3 |
| es | Síndrome de miopatía hereditaria de cuerpos de inclusión-contracturas de las articulaciones-oftalmoplejía | HIBM3 · IBM3 · Miopatía con cuerpos de inclusión tipo 3 · Miopatía hereditaria con cuerpos de inclusión tipo 3 |
| it | Miopatia ereditaria da corpi inclusi-contratture articolari-oftalmoplegia | HIBM3 · IBM3 · Miopatia da corpi inclusi, tipo 3 · Miopatia ereditaria da corpi inclusi, tipo 3 |
| nl | Erfelijke inclusielichaammyopathie - gewrichtscontracturen - oftalmoplegie-syndroom | Erfelijke inclusielichaammyopathie type 3 · HIBM3 · IBM3 · Inclusielichaammyopathie type 3 |
| pt | Síndrome de miopatia hereditária com corpos de inclusão-contraturas articulares-oftalmoplegia | HIBM3 · IBM3 · Miopatia com corpos de inclusão tipo 3 · Miopatia hereditária com corpos de inclusão tipo 3 |
| pl | Dziedziczna miopatia z ciałkami wtrętowymi - przykurcze stawów - oftalmoplegia | Dziedziczna miopatia z ciałkami wtrętowymi typu 3 · HIBM3 · IBM3 · Miopatia z ciałkami wtrętowymi typu 3 |
| cs | Syndrom zahrnující hereditární myopatii s inkluzními tělísky, kloubní kontraktury a oftalmoplegii | HIBM3 · IBM3 · Hereditární myopatie s inkluzními tělísky, typ 3 · Myopatie s inkluzními tělísky, typ 3 |
| uk | Синдром спадкової міопатії з тільцями-включеннями - контрактур суглобів-офтальмоплегії | Спадкова міопатія з тільцями включення типу 3 · HIBM3 · IBM3 · Міопатія з тільцями включення 3 типу |
| zh | 遗传性包涵体肌病-关节挛缩-眼肌麻痹综合征 | 遗传性包涵体肌病3型 |
| tr | Kalıtsal inklüzyon cismi miyopatisi-eklem kontraktürleri-oftalmopleji sendromu | IBM3 · HIBM3 · İnklüzyon vücut miyopatisi tip 3 · Kalıtsal inklüzyon vücut miyopatisi tip 3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605637 | NTBT | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| ICD-11 | 4A41.21 | NTBT | index | validated |
| MONDO | 0019195 | E | validated | |
| UMLS | C4510610 | E | validated | |
| GARD | 9494 | 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:206662Inclusion myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7572 | ENSG00000125414 | 160740 | 17p13.1 | myosin heavy chain 2 | 11114175[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 9708547[PMID]_23489661[PMID]_25529940[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9708547[PMID]_23489661[PMID]_25529940[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79091
- This record as JSON: /data/d/79091.json