ORPHA:589827
Juvenile-onset Steinert myotonic dystrophy
Synonyms: Juvenile-onset Steinert disease · Juvenile-onset myotonic dystrophy type 1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
This disease is described under Steinert myotonic dystrophy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile-onset Steinert myotonic dystrophy | Juvenile-onset Steinert disease · Juvenile-onset myotonic dystrophy type 1 |
| fr | Dystrophie myotonique de Steinert à début juvénile | Dystrophie myotonique de type 1 à début juvénile · Maladie de Steinert à début juvénile |
| de | Myotone Dystrophie Steinert, juvenile Form | Myotone Dystrophie Typ 1 des Jugendlichen · Steinert-Krankheit, juvenile |
| es | Distrofia miotónica de Steinert de inicio juvenil | Distrofia miotónica tipo 1 de inicio juvenil · Enfermedad de Steinert de inicio juvenil |
| it | Distrofia miotonica di Steinert ad esordio giovanile | Distrofia miotonica tipo 1 ad esordio giovanile · Malattia di Steinert ad esordio giovanile |
| nl | Myotone dystrofie van Steinert met juveniele aanvang | Myotone dystrofie type 1 met juveniele aanvang · Ziekte van Steinert met juveniele aanvang · Ziekte van Steinert, juveniele vorm |
| pt | Distrofia miotónica de Steinert de início na adolescência | |
| pl | Dystrofia miotoniczna Steinerta młodocianych | = en |
| cs | Steinertova myotonická dystrofie s nástupem u mladistvých | = en |
| uk | Ювенільна міотонічна дистрофія Штейнерта | Ювенільна міотонічна дистрофія 1-го типу · Хвороба Штейнерта, що починається в юнацькому віці |
| zh | Juvenile-onset Steinert myotonic dystrophy | = en |
| tr | Juvenile-onset Steinert myotonic dystrophy | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 160900 | NTBT | validated | |
| ICD-10 | G71.1 | NTBT | attributed | validated |
| ICD-11 | 8C71.0 | NTBT | index | validated |
| MONDO | 0035648 | E | validated | |
| UMLS | C5680306 | 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 (2):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:273Steinert myotonic dystrophy
rare cardiac diseases; rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DMPK | Disease-causing germline mutation(s) in | Assessed | HGNC:2933 | ENSG00000104936 | 605377 | 19q13.32 | DM1 protein kinase | 31326502[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 1.64 / 100 000 | Italy | Value and class | Validated | 26882032[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.
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/589827
- This record as JSON: /data/d/589827.json