ORPHA:727296
Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome
Synonyms: CIAO1-related myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome | CIAO1-related myopathy |
| fr | Syndrome de faiblesse musculaire progressive-insuffisance respiratoire-difficulté d'apprentissage | Myopathie associée à CIAO1 |
| de | Progressive Muskelschwäche-Ateminsuffizienz-Lernschwierigkeiten-Syndrom | CIAO1-assoziierte Myopathie |
| es | Síndrome de debilidad muscular progresiva-insuficiencia respiratoria-dificultad de aprendizaje | Miopatía asociada al gen CIAO1 |
| it | Sindrome debolezza muscolare progressiva-insufficienza respiratoria-difficoltà di apprendimento | Miopatia correlata a CIAO1 |
| nl | Progressieve spierzwakte - respiratoire insufficiëntie - leerprobleem-syndroom | CIAO1-gerelateerde myopathie |
| pt | Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome | |
| pl | Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome | = en |
| cs | Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620960 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:309842Disorder of iron metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206634Genetic skeletal muscle disease
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CIAO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14280 | ENSG00000144021 | 604333 | 2q11.2 | cytosolic iron-sulfur assembly component 1 | 38950322[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/727296
- This record as JSON: /data/d/727296.json