ORPHA:589830
Adult-onset Steinert myotonic dystrophy
Synonyms: Adult-onset Steinert disease · Adult-onset myotonic dystrophy type 1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
This disease is described under Steinert myotonic dystrophy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult-onset Steinert myotonic dystrophy | Adult-onset Steinert disease · Adult-onset myotonic dystrophy type 1 |
| fr | Dystrophie myotonique de Steinert de l'adulte | Dystrophie myotonique de type 1 de l'adulte · Maladie de Steinert de l'adulte |
| de | Myotone Dystrophie Steinert mit Beginn im Erwachsenenalter | Myotone Dystrophie Typ 1 des Erwachsenen · Steinert-Krankheit, adulte |
| es | Distrofia miotónica de Steinert de inicio en el adulto | Distrofia miotónica tipo 1 de inicio en el adulto · Enfermedad de Steinert de inicio en el adulto |
| it | Distrofia miotonica di Steinert ad esordio nell'età adulta | Distrofia miotonica tipo 1 ad esordio nell'età adulta · Malattia di Steinert ad esordio nell'età adulta |
| nl | Myotone dystrofie van Steinert met aanvang op volwassen leeftijd | Myotone dystrofie type 1 met aanvang op volwassen leeftijd · Ziekte van Steinert met aanvang op volwassen leeftijd · Ziekte van Steinert, volwassen vorm |
| pt | Distrofia miotónica de Steinert de início no adulto | |
| pl | Dystrofia miotoniczna Steinerta wieku dorosłego | Dystrofia miotoniczna wieku dorosłego typ 1 |
| cs | Steinertova myotonická dystrofie s nástupem v dospělosti | = en |
| uk | Доросла міотонічна дистрофія Штейнерта | Міотонічна дистрофія 1-го типу, що починається у дорослих · Хвороба Штейнерта у дорослих |
| zh | Adult-onset Steinert myotonic dystrophy | = en |
| tr | Adult-onset Steinert myotonic dystrophy | = en |
2
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 | attributed | validated |
| MONDO | 0035649 | E | validated | |
| UMLS | C5680309 | 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: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 | 1-5 / 10 000 | 12.54 / 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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/589830
- This record as JSON: /data/d/589830.json