Fetal and neonatal alloimmune thrombocytopenia
Synonyms: FNAIT · NAIT
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare hematological disease characterized by maternal alloimmunisation against fetal platelet antigens that are inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopenia in otherwise healthy newborns.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fetal and neonatal alloimmune thrombocytopenia | FNAIT · NAIT |
| fr | Thrombopénie materno-foetale et néonatale allo-immune | NAIT · TNAI |
| de | Alloimmunthrombozytopenie, fetale und neonatale | FNAIT |
| es | Trombocitopenia aloinmune fetal y neonatal | NAIT |
| it | Trombocitopenia alloimmune fetale e neonatale | NAIT |
| nl | Foetale en neonatale allo-immune trombocytopenie | = en |
| pt | Trombocitopenia aloimune fetal e neo-natal | |
| pl | Alloimmunologiczna małopłytkowość płodowo/noworodkowa | NAIT |
| cs | Fetální a novorozenecká aloimunitní trombocytopénie | NAIT |
| uk | Алоімунна тромбоцитопенія плода та новонароджених | = en |
| zh | 胎儿和新生儿同种免疫性血小板减少症 | FNAIT |
| tr | Fetal ve Yenidoğan alloimmün trombositopeni | NAIT · FNAIT |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | P61.0 | NTBT | attributed | validated |
| ICD-11 | 3B64.00 | NTBT | index | validated |
| MONDO | 0019415 | E | validated | |
| UMLS | C3854603 | E | validated | |
| GARD | 2295 | 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:248347Rare hemorrhagic disorder due to an acquired platelet anomaly
rare hematological diseases
No children.
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CD109 | Candidate gene tested in | Not yet assessed | HGNC:21685 | ENSG00000156535 | 608859 | 6q13 | CD109 molecule | |
| GP1BA | Candidate gene tested in | Not yet assessed | HGNC:4439 | ENSG00000185245 | 606672 | 17p13.2 | glycoprotein Ib platelet subunit alpha | |
| GP1BB | Candidate gene tested in | Not yet assessed | HGNC:4440 | ENSG00000203618 | 138720 | 22q11.21 | glycoprotein Ib platelet subunit beta | |
| ITGA2 | Candidate gene tested in | Not yet assessed | HGNC:6137 | ENSG00000164171 | 192974 | 5q11.2 | integrin subunit alpha 2 | |
| ITGA2B | Candidate gene tested in | Not yet assessed | HGNC:6138 | ENSG00000005961 | 607759 | 17q21.31 | integrin subunit alpha 2b | |
| ITGB3 | Major susceptibility factor in | Assessed | HGNC:6156 | ENSG00000259207 | 173470 | 17q21.32 | integrin subunit beta 3 | 19821948[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 39.6307 / 100 000 | Worldwide | Value and class | Validated | 23384054[PMID]_ORPHANET |
| Prevalence at birth | 6-9 / 10 000 | 66.6667 / 100 000 | Worldwide | Value and class | Validated | 23384054[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.
HPO phenotypes
17 annotations · validated 2019-05-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0004809 | Neonatal alloimmune thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0012541 | Cephalohematoma | |
| HP:0000967 | Petechiae | |
| HP:0000979 | Purpura | |
| HP:0007420 | Spontaneous hematomas | |
| Occasional (29-5%) | ||
| HP:0031364 | Ecchymosis | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000790 | Hematuria | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0002249 | Melena | |
| Very rare (<4-1%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0000618 | Blindness | |
| HP:0100021 | Cerebral palsy | |
| HP:0001263 | Global developmental delay | |
| HP:0002138 | Subarachnoid hemorrhage | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30827816[PMID]_17032445[PMID]_30971767[PMID]_30828796[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/853
- This record as JSON: /data/d/853.json