ORPHA:178145
Moderate multiminicore disease with hand involvement
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
This disease is described under Multiminicore myopathy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Moderate multiminicore disease with hand involvement | |
| fr | Myopathie à multi-minicores modérée avec atteinte des mains | |
| de | Moderate Multiminicore-Krankheit mit Beteiligung der Hand | |
| es | Miopatía de multiminicores moderada con afectación de manos | |
| it | Malattia multiminicore attenuata con interessamento della mano | |
| nl | Matige multi-minicore ziekte met betrokkenheid van hand | |
| pt | Doença multiminicore moderada com envolvimento da mão | |
| pl | Umiarkowana choroba multiminicore z zaangażowaniem rąk | |
| cs | Středně těžká multi-mini core nemoc s postižením rukou | |
| uk | Помірно виражена мультимініядерна хвороба із залученням кисті руки | |
| zh | 中度多轴空病累及手部 | |
| tr | El tutulumu ile seyreden orta dereceli multiminicore hastalığı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 117000 | NTBT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.0Y | NTBT | index | validated |
| MONDO | 0015793 | E | validated | |
| MeSH | C566147 | E | validated | |
| UMLS | C1861753 | 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:598Multiminicore myopathy
rare genetic diseases; rare neurological diseases - ORPHA:98742Neurological muscular channelopathy due to a genetic ryanodine receptor defect
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 | 20301467[PMID]_12112081[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
14 annotations · validated 2018-06-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003327 | Axial muscle weakness | |
| HP:0002194 | Delayed gross motor development | |
| HP:0009046 | Difficulty running | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0010628 | Facial palsy | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0012391 | Hyporeflexia of upper limbs | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0001382 | Joint hypermobility | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0001762 | Talipes equinovarus | |
| Occasional (29-5%) | ||
| HP:0004976 | Knee dislocation | |
| HP:0005001 | Recurrent patellar dislocation | |
| HP:0003803 | Type 1 muscle fiber predominance | |
Annotation source: 11079538[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178145
- This record as JSON: /data/d/178145.json