ORPHA:700188
Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy
Synonyms: Mild calf-predominant myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy | Mild calf-predominant myopathy |
| fr | Myopathie distale à faiblesse prédominante du mollet-atrophie du gastrocnémien médial | |
| de | Wadenmuskelschwäche mit Musculus gastrocnemius-Atrophie und distaler Myopathie | Vorwiegend in den Waden auftretende Myopathie |
| es | Miopatía distal con debilidad predominante en pantorrilla-atrofia del gastrocnemio medial | Miopatía leve predominante en pantorrilla |
| it | Debolezza a predominanza nel polpaccio-atrofia del gastrocnemio mediale-miopatia distale | Lieve miopatia a predominanza nel polpaccio |
| nl | Zwakte van hoofdzakelijk kuit - atrofie van musculus gastrocnemius medialis - distale myopathie | Milde myopathie van hoofdzakelijk kuit |
| pt | Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy | |
| pl | Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy | = en |
| cs | Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.0 | NTBT | attributed | not yet validated |
| ICD-11 | 8C75 | NTBT | attributed | not yet 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 (1):
- ORPHA:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RYR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10483 | ENSG00000196218 | 180901 | 19q13.2 | ryanodine receptor 1 | 30842289[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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/700188
- This record as JSON: /data/d/700188.json