ORPHA:707983
Early-onset autosomal recessive TTN-related distal myopathy
Synonyms: Young or early adult onset recessive distal titinopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset autosomal recessive TTN-related distal myopathy | Young or early adult onset recessive distal titinopathy |
| fr | Myopathie distale autosomique récessive à début précoce associée à TTN | Titinopathie distale récessive d'apparition jeune ou au début de l'âge adulte |
| de | TTN-abhängige distale Myopathie mit Beginn in der Kindheit | Distale Myopathie, TTN-assoziierte, autosomal-rezessive · Im Kindes- oder frühem Erwachsenenalter auftretende distale Titinopathie |
| es | Miopatía distal autosómica recesiva de inicio precoz asociada a TTRN | Titinopatía distal recesiva de inicio juvenil o en la edad adulta temprana |
| it | Miopatia distale autosomica recessiva ad esordio precoce correlata a TTN | Titinopatia distale recessiva ad esordio giovanile o nella prima età adulta |
| nl | Vroeg optredende autosomaal recessieve TTN-gerelateerde distale myopathie | Recessieve distale titinopathie beginnend op vroege volwassen leeftijd |
| pt | Early-onset autosomal recessive TTN-related distal myopathy | |
| pl | Miopatia dystalna o wczesnym początku związana z TTN o dziedziczeniu autosomalnym recesywnym | = en |
| cs | Early-onset autosomal recessive TTN-related distal myopathy | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:206653Autosomal recessive distal myopathy
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 |
|---|---|---|---|---|---|---|---|---|
| TTN | Disease-causing germline mutation(s) in | Assessed | HGNC:12403 | ENSG00000155657 | 188840 | 2q31.2 | titin | 27796757[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 24395473[PMID]_27796757[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 24395473[PMID]_27796757[PMID]_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
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/707983
- This record as JSON: /data/d/707983.json