ORPHA:209341
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Synonyms: DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy · SMALED1
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
This disease is described under Autosomal dominant childhood-onset proximal spinal muscular atrophy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy | DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy · SMALED1 |
| fr | Amyotrophie spinale proximale autosomique dominante de l'enfance associée à DYNC1H1 | Amyotrophie spinale proximale autosomique dominante de l'enfance avec prédominance des membres inférieurs associée à DYNC1H1 · SMALED1 |
| de | DYNC1H1-assoziierte autosomal-dominante im Kindesalter beginnende proximale spinale Muskelatrophie | DYNC1H1-assoziierte autosomal-dominante proximale spinale Muskelatrophie vorwiegend der unteren Extremitäten · SMALED1 |
| es | Atrofia muscular espinal proximal asociada a DYNC1H1 autosómica dominante de inicio en la infancia | Atrofia muscular espinal proximal asociada a DYNC1H1 con predominio en extremidades inferiores autosómica dominante · SMALED1 |
| it | Atrofia muscolare spinale prossimale, autosomica dominante, a esordio nell'infanzia, senza contratture | Atrofia muscolare spinale prossimale, autosomica dominante, con coinvolgimento prevalente degli arti inferiori, senza contratture · SMALED1 |
| nl | DYNC1H1-gerelateerde autosomaal dominante proximale spinale musculaire atrofie met aanvang in de kindertijd | DYNC1H1-gerelateerde autosomaal dominante proximale spinale musculaire atrofie van voornamelijk de onderste ledematen · SMALED1 |
| pt | Atrofia muscular espinhal proximal de início na infância autossómica dominante DYNC1H1-relacionada | Atrofia muscular espinhal proximal autossómica dominante de início na infância |
| pl | Autosomalny dominujący zanik mięśni odcinka bliższego kręgosłupa związany z DYNC1H1 objawiający się w dzieciństwie | Autosomalny dominujący proksymalny rdzeniowy zanik mięśni bez przykurczów z przewagą w kończynach dolnych · SMALED1 |
| cs | Autozomálně dominantní proximální svalová atrofie bez kontraktur nastupující v dětství | SMALED1 · Autozomálně dominantní proximální svalová atrofie predominantně na dolních končetinách bez kontraktur |
| uk | DYNC1H1-повязана аутосомно-домінантна проксимальна спінальна мязова атрофія, що починається в дитячому віці | DYNC1H1-асоційована аутосомно-домінантна проксимальна спінальна мязова атрофія нижніх кінцівок · SMALED1 |
| zh | DYNC1H1基因相关的常染色体显性遗传儿童期起病的近端脊髓性肌萎缩症 | = en |
| tr | DYNC1H1 -ilişkili otozomal dominant çocukluk dönemi başlangıçlı proksimal spinal musküler atrofi | DYNC1H1-ilişkili alt ekstremite baskın otozomal baskın proksimal spinal kas atrofisi · SMALED1 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158600 | E | validated | |
| ICD-10 | G12.1 | NTBT | attributed | validated |
| MONDO | 0008026 | E | validated | |
| MeSH | C563560 | E | validated | |
| UMLS | C5780022 | E | validated | |
| GARD | 13519 | 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 (1):
- ORPHA:363447Autosomal dominant childhood-onset proximal spinal muscular atrophy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DYNC1H1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2961 | ENSG00000197102 | 600112 | 14q32.31 | dynein cytoplasmic 1 heavy chain 1 | 22459677[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20697106[PMID]_22459677[PMID]_22847149[PMID] |
| Cases/families | 37 cases | Worldwide | Case(s) | Validated | 20697106[PMID]_22459677[PMID]_22847149[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.
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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/209341
- This record as JSON: /data/d/209341.json