Congenital amegakaryocytic thrombocytopenia
Synonyms: CAMT
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital amegakaryocytic thrombocytopenia | CAMT |
| fr | Thrombocytopénie amégacaryocytaire congénitale | = en |
| de | Angeborene amegakaryozytäre Thrombozytopenie | CAMT · Kongenitale amegakaryozytäre thrombozytopenische Purpura · Thrombozytopenie, amegakaryozytäre, kongenitale |
| es | Trombocitopenia amegacariocítica congénita | CAMT · Trombocitopenia púrpura amegacariocítica congénita |
| it | Trombocitopenia amegacariocitica congenita | CAMT · Porpora trombocitopenica amegacariocitica congenita |
| nl | Congenitale amegakaryocytaire trombocytopenie | = en |
| pt | Tombocitopenia amegacariocítica congénita | = en |
| pl | Wrodzona małopłytkowość amegakariocytowa | CAMT · Wrodzona plamica małopłytkowa amegakariocytowa |
| cs | Vrozená amegakaryocytová trombocytopenie | CAMT · Vrozená amegakaryocytová trombocytopenická purpura |
| uk | Вроджена амегакаріоцитарна тромбоцитопенія | = en |
| zh | 先天性无巨核细胞血小板减少症 | = en |
| tr | Doğumsal amegakaryositik trombositopeni | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604498 | BTNT | validated | |
| OMIM | 620481 | BTNT | validated | |
| ICD-10 | D61.0 | NTBT | attributed | validated |
| ICD-11 | 3B64.01 | NTBT | index | validated |
| MONDO | 0011469 | E | validated | |
| MONDO | 11469 | E | validated | |
| MONDO | 800452 | E | validated | |
| MeSH | C535982 | E | validated | |
| UMLS | C1327915 | E | validated | |
| GARD | 640 | 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 (2):
- ORPHA:477797Isolated constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases - ORPHA:68383Rare constitutional aplastic anemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
Codes that Orphanet moved or referred to this one:
- ORPHA:397692OBSOLETE: Hereditary isolated aplastic anemia referred to · inactive
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| MPL | ORPHA:726047Congenital amegakaryocytic thrombocytopenia-MPL | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7217 | ENSG00000117400 | 159530 | 1p34.2 | MPL proto-oncogene, thrombopoietin receptor | 19302922[PMID]_24438083[PMID] |
| THPO | ORPHA:726050Congenital amegakaryocytic thrombocytopenia-THPO | Disease-causing germline mutation(s) in | Assessed | HGNC:11795 | ENSG00000090534 | 600044 | 3q27.1 | thrombopoietin | 29191945[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 21337678[PMID]_22102270[PMID] | |
| Prevalence at birth | 1-9 / 1 000 000 | 0.15 / 100 000 | United Kingdom | Value and class | Validated | [EXPERT] |
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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011902 | Abnormal hemoglobin | |
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0001903 | Anemia | |
| HP:0000280 | Coarse facial features | |
| HP:0000995 | Melanocytic nevus | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0004331 | Decreased skull ossification | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3319
- This record as JSON: /data/d/3319.json