ORPHA:723139
Multifocal ectopic Purkinje-related premature contraction
Synonyms: MEPPC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multifocal ectopic Purkinje-related premature contraction | MEPPC |
| fr | Contraction prématurée multifocale ectopique dépendante de Purkinje | = en |
| de | Multifokale ektopische Purkinje-vermittelte ventrikuläre Extrasystolen | MEPPC-Syndrom |
| es | Contracción prematura multifocal ectópica asociada a Purkinje | = en |
| it | Contrazione prematura multifocale ectopica correlata alle cellule di Purkinje | = en |
| nl | Multifocale ectopische Purkinje-gerelateerde premature contractie | = en |
| pt | Multifocal ectopic Purkinje-related premature contraction | |
| pl | Multifocal ectopic Purkinje-related premature contraction | = en |
| cs | Multifocal ectopic Purkinje-related premature contraction | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601154 | NTBT | 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:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCN5A | Disease-causing germline mutation(s) in | Assessed | HGNC:10593 | ENSG00000183873 | 600163 | 3p22.2 | sodium voltage-gated channel alpha subunit 5 | 22766342[PMID]_37600057[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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
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/723139
- This record as JSON: /data/d/723139.json