Congenital autosomal recessive small-platelet thrombocytopenia
Synonyms: CARST
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital autosomal recessive small-platelet thrombocytopenia | CARST |
| fr | Thrombocytopénie à petites plaquettes congénitale autosomique récessive | = en |
| de | Kongenitale autosomal-rezessive Thrombozytopenie der kleinen Blutplättchen | ADAP-Defizienz · CARST · FYN-bindendes Protein-Defizienz |
| es | Trombocitopenia de plaquetas pequeñas congénita autosómica recesiva | CARST · Deficiencia de ADAP · Deficiencia de proteína adaptadora promotora de la adhesión y degranulación · Deficiencia de proteína de unión FYN |
| it | Trombocitopenia congenita autosomica recessiva con piastrine piccole | = en |
| nl | Congenitale autosomaal recessieve trombocytopenie met kleine bloedplaatjes | ADAP-deficiëntie · CARST · Deficiëntie van FYN-bindingsproteïne · Deficiëntie van adhesie- en degranulatie-bevorderend adaptorproteïne |
| pt | Trombocitopenia de plaquetas pequenas autossómica recessiva congénita | |
| pl | Wrodzona płytkowa trombocytopenia autosomalna recesywna | = en |
| cs | Vrozená autozomálně recesivní trombocytopenie malých krevních destiček | = en |
| uk | Вроджена аутосомно-рецесивна тромбоцитопенія дрібних тромбоцитів | = en |
| zh | 先天性常染色体隐性遗传小血小板减少症 | = en |
| tr | Doğumsal otozomal resesif küçük trombosit trombositopeni | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 273900 | E | validated | |
| OMIM | 620484 | BTNT | validated | |
| ICD-10 | D69.1 | NTBT | attributed | validated |
| ICD-11 | 3B64.01 | NTBT | attributed | validated |
| MONDO | 0035441 | E | validated | |
| UMLS | C5680129 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:477797Isolated constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FYB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4036 | ENSG00000082074 | 602731 | 5p13.1 | FYN binding protein 1 | 25876182[PMID] |
| PTPRJ | Disease-causing germline mutation(s) in | Assessed | HGNC:9673 | ENSG00000149177 | 600925 | 11p11.2 | protein tyrosine phosphatase receptor type J | 30591527[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 25876182[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25876182[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/566192
- This record as JSON: /data/d/566192.json