ORPHA:603
Distal myopathy, Welander type
Synonyms: WDM
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal myopathy, Welander type | WDM |
| fr | Myopathie distale type Welander | = en |
| de | Myopathie, distale, Typ Welander | = en |
| es | Miopatía distal tipo Welander | = en |
| it | Miopatia distale tipo Welander | = en |
| nl | Distale myopathie, Welander-type | = en |
| pt | Miopatia distal de Welander | |
| pl | Miopatia dystalna, typ Welandera | = en |
| cs | Distální myopatie, Welanderové typ | = en |
| uk | Дистальна міопатія, тип Веландера | = en |
| zh | Welander远端型肌营养不良症 | = en |
| tr | Distal miyopati, Welander tipi | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604454 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C75 | NTBT | index | validated |
| MONDO | 0011466 | E | validated | |
| UMLS | C0221054 | E | validated | |
| GARD | 5552 | E | validated | |
| MedDRA | 10078052 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TIA1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11802 | ENSG00000116001 | 603518 | 2p13.3 | TIA1 cytotoxic granule associated RNA binding protein | 23348830[PMID]_23401021[PMID] |
| SQSTM1 | Modifying germline mutation in | Assessed | HGNC:11280 | ENSG00000161011 | 601530 | 5q35.3 | sequestosome 1 | 29457785[PMID] |
| TIA1 | Modifying germline mutation in | Assessed | HGNC:11802 | ENSG00000116001 | 603518 | 2p13.3 | TIA1 cytotoxic granule associated RNA binding protein | 29457785[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 100 / 100 000 | Sweden | Value and class | Validated | DOI:https://doi.org/10.1016/S0960-8966(02)00116-5[OTHER]_ [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
13 annotations · validated 2019-07-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0003198 | Myopathy | |
| HP:0009077 | Weakness of long finger extensor muscles | |
| Frequent (79-30%) | ||
| HP:0002312 | Clumsiness | |
| HP:0007149 | Distal upper limb amyotrophy | |
| HP:0001288 | Gait disturbance | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0003376 | Steppage gait | |
| Excluded (0%) | ||
| HP:0001638 | Cardiomyopathy | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 10482271[PMID]_23401021[PMID]_23348830[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/603
- This record as JSON: /data/d/603.json