ORPHA:674653
Actinomyopathy-associated syndromic thrombocytopenia
Synonyms: ACTB-AST
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Actinomyopathy-associated syndromic thrombocytopenia | ACTB-AST |
| fr | Thrombocytopénie syndromique associée à une actinomyopathie | |
| de | Aktinomyopathie-assoziierte syndromale Thrombozytopenie | ACTB-AST · ACTB-Syndrom · Beta-Actin-Syndrom |
| es | Trombocitopenia sindrómica asociada a actinomiopatía | |
| it | Trombocitopenia sindromica associata ad actinomiopatia | = en |
| nl | Syndromale trombocytopenie geassocieerd met actinomyopathie | = en |
| pt | Trombocitopenia associada a actinomiopatia sindrómica | = en |
| pl | Małopłytkowość syndromiczna związana z miopatią aktynową | = en |
| cs | Syndromová trombocytopenie spojená s aktinomyopatií | = en |
| uk | Синдромальна тромбоцитопенія, асоційована з актиноміопатією | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620475 | E | validated | |
| ICD-11 | 3B64.01 | NTBT | attributed | validated |
| MONDO | 100433 | E | validated | |
| UMLS | C5882677 | 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 (3):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:674648Syndrome with congenital phagocyte functional defect as a major feature
rare genetic diseases; rare immunological diseases - ORPHA:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACTB | Disease-causing germline mutation(s) in | Assessed | HGNC:132 | ENSG00000075624 | 102630 | 7p22.1 | actin beta | 30315159[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/674653
- This record as JSON: /data/d/674653.json