ORPHA:589821
Congenital-onset Steinert myotonic dystrophy
Synonyms: Congenital-onset Steinert disease · Congenital-onset myotonic dystrophy type 1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
This disease is described under Steinert myotonic dystrophy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital-onset Steinert myotonic dystrophy | Congenital-onset Steinert disease · Congenital-onset myotonic dystrophy type 1 |
| fr | Dystrophie myotonique de Steinert, forme congénitale | Dystrophie myotonique de type 1, forme congénitale · Maladie de Steinert, forme congénitale |
| de | Myotone Dystrophie Steinert, kongenitale Form | Steinert-Krankheit, kongenitale · Myotone Dystrophie Typ 1, kongenitale Form |
| es | Distrofia miotónica de Steinert de inicio congénito | Distrofia miotónica tipo 1 de inicio congénito · Enfermedad de Steinert de inicio congénito |
| it | Distrofia miotonica congenita di Steinert | Distrofia miotonica congenita tipo 1 · Malattia congenita di Steinert |
| nl | Myotone dystrofie van Steinert met congenitale aanvang | Myotone dystrofie type 1 met congenitale aanvang · Ziekte van Steinert met congenitale aanvang |
| pt | Distrofia miotónica de Steinert de início congénito | |
| pl | Wrodzona dystrofia miotoniczna Steinerta | = en |
| cs | Vrozená Steinertova myotonická dystrofie | = en |
| uk | Вроджена міотонічна дистрофія Штейнерта | Вроджена міотонічна дистрофія 1-го типу · Вроджена хвороба Штейнерта |
| zh | Congenital-onset Steinert myotonic dystrophy | = en |
| tr | Congenital-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 | index | validated |
| MONDO | 0035646 | E | validated | |
| UMLS | C5680305 | 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] |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 2.1 / 100 000 | Canada | Value and class | Validated | 23415617[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.94 / 100 000 | Italy | Value and class | Validated | 26882032[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 47.6 / 100 000 | United States | Value and class | Validated | 33472919[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | 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.
6
HPO phenotypes
34 annotations · validated 2022-10-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031843 | Bradyphrenia | |
| HP:0000297 | Facial hypotonia | |
| HP:0000256 | Macrocephaly | |
| HP:0010804 | Tented upper lip vermilion | |
| Frequent (79-30%) | ||
| HP:0011710 | Bundle branch block | |
| HP:0011705 | First degree atrioventricular block | |
| HP:0002486 | Myotonia | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0001622 | Premature birth | |
| HP:0002650 | Scoliosis | |
| HP:0000736 | Short attention span | |
| HP:0011098 | Speech apraxia | |
| HP:0001883 | Talipes | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000729 | Autistic behavior | |
| HP:0000518 | Cataract | |
| HP:0002019 | Constipation | |
| HP:0004325 | Decreased body weight | |
| HP:0001558 | Decreased fetal movement | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002014 | Diarrhea | |
| HP:0002015 | Dysphagia | |
| HP:0040183 | Encopresis | |
| HP:0000805 | Enuresis | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000752 | Hyperactivity | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001561 | Polyhydramnios | |
| HP:0002360 | Sleep abnormality | |
| Very rare (<4-1%) | ||
| HP:0001513 | Obesity | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30659139[PMID]_31520483[PMID]_34655747[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/589821
- This record as JSON: /data/d/589821.json