ORPHA:728467
Congenital macrothrombocytopenia with focal myelofibrosis
Synonyms: Early-onset autosomal recessive thrombocytopenia-anemia-myelofibrosis · Congenital myelofibrosis with macrothrombocytopenia and focal myelofibrosis · cMTFM · THAMY
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital macrothrombocytopenia with focal myelofibrosis | Early-onset autosomal recessive thrombocytopenia-anemia-myelofibrosis · Congenital myelofibrosis with macrothrombocytopenia and focal myelofibrosis · cMTFM · THAMY |
| fr | Macrothrombocytopénie avec myélofibrose focale | Macrothrombocytopénie autosomique récessive à début précoce avec anémie et myélofibrose |
| de | Kongenitale Makrothrombozytopenie mit fokaler Myelofibrose | Kongenitale Myelofibrose mit Makrothrombozytopenie und fokaler Myelofibrose · THAMY · cMTFM · Myelofibrose, MPIG6B-assoziierte |
| es | Macrotrombocitopenia congénita con mielofibrosis focal | Mielofibrosis congénita con macrotrombocitopenia y mielofibrosis focal · THAMY · Trombocitopenia-anemia-mielofibrosis autosómica recesiva de inicio precoz · cMTFM |
| it | Macrotrombocitopenia congenita con mielofibrosi focale | Mielofibrosi congenita con macrotrombocitopenia e mielofibrosi focale · THAMY · cMTFM · Trombocitopenia-anemia-mielofibrosi autosomica recessiva ad esordio precoce |
| nl | Congenitale macrotrombocytopenie met focale myelofibrose | cMTFM · Vroeg optredende autosomaal recessieve trombocytopenie - anemie - myelofibrose · Congenitale myelofibrose met macrotrombocytopenie en focale myelofibrose · THAMY |
| pt | Congenital macrothrombocytopenia with focal myelofibrosis | |
| pl | Congenital macrothrombocytopenia with focal myelofibrosis | = en |
| cs | Congenital macrothrombocytopenia with focal myelofibrosis | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617441 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MPIG6B | Disease-causing germline mutation(s) in | Assessed | HGNC:13937 | ENSG00000204420 | 606520 | 6p21.33 | megakaryocyte and platelet inhibitory receptor G6b | 29898956[PMID]_38694137[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
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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/728467
- This record as JSON: /data/d/728467.json