ORPHA:90042
Primary familial and congenital erythrocytosis
Synonyms: Primary hereditary and congenital polycythemia · Primary familial and congenital erythrocytosis due to erythropoietin receptor mutation · PFCE · PFCP · Primary hereditary and congenital erythrocytosis · Primary familial and congenital polycythemia · Primary hereditary and congenital erythrocytosis due to erythropoietin receptor mutation · Primary familial and congenital polycythemia due to erythropoietin receptor mutation · Primary hereditary and congenital polycythemia due to erythropoietin receptor mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary familial and congenital erythrocytosis | Primary hereditary and congenital polycythemia · Primary familial and congenital erythrocytosis due to erythropoietin receptor mutation · PFCE · PFCP · Primary hereditary and congenital erythrocytosis · Primary familial and congenital polycythemia · Primary hereditary and congenital erythrocytosis due to erythropoietin receptor mutation · Primary familial and congenital polycythemia due to erythropoietin receptor mutation · Primary hereditary and congenital polycythemia due to erythropoietin receptor mutation |
| fr | Erythrocytose primaire congénitale familiale | Erythrocytose primaire congénitale héréditaire par mutation du récepteur de l'érythropoïétine · Polyglobulie primaire congénitale héréditaire · Polyglobulie primaire congénitale familiale par mutation du récepteur de l'érythropoïétine · Polyglobulie primaire congénitale héréditaire par mutation du récepteur de l'érythropoïétine · Polycythémie primaire congénitale familiale par mutation du récepteur de l'érythropoïétine · Polycythémie primaire congénitale héréditaire par mutation du récepteur de l'érythropoïétine · Polyglobulie primaire congénitale familiale · Polycythémie primaire congénitale familiale · Erythrocytose primaire congénitale héréditaire · Polycythémie primaire congénitale héréditaire · Erythrocytose primaire congénitale familiale par mutation du récepteur de l'érythropoïétine |
| de | Primäre familiäre und kongenitale Erythrozytose | Primäre hereditäre und kongenitale Polyzythämie · Polyzythämie, kongenitale primäre · Primäre familiäre und kongenitale Erythrozytose durch Erythropoietin-Rezeptor-Genmutation · Erythrozytose, kongenitale primäre · PFCP · Primäre familiäre und kongenitale Polyzythämie · Primäre familiäre und kongenitale Polyzythämie durch Erythropoietin-Rezeptor-Genmutation |
| es | Eritrocitosis primaria familiar y congénita | Policitemia primaria hereditaria y congénita · Policitemia primaria hereditaria y congénita por una mutación del receptor de la eritropoyetina · Eritrocitosis primaria hereditaria y congénita · Eritrocitosis primaria hereditaria y congénita por una mutación del receptor de la eritropoyetina · Policitemia primaria familiar y congénita por una mutación del receptor de la eritropoyetina · Eritrocitosis primaria familiar y congénita por una mutación del receptor de la eritropoyetina · Policitemia primaria familiar y congénita |
| it | Eritrocitosi primitiva familiare e congenita | Policitemia primitiva ereditaria e congenita da mutazione del recettore dell'eritropoietina · PFCE · Policitemia primitiva ereditaria e congenita · Eritrocitosi primitiva ereditaria e congenita · PFCP · Eritrocitosi primitiva familiare e congenita da mutazione del recettore dell'eritropoietina · Policitemia primitiva familiare e congenita · Policitemia primitiva familiare e congenita da mutazione del recettore dell'eritropoietina · Eritrocitosi primitiva ereditaria e congenita da mutazione del recettore dell'eritropoietina |
| nl | Primaire familiale en congenitale erytrocytose | Primaire familiale en congenitale polycytemie door mutatie van erytropoëtinereceptor · Primaire hereditaire en congenitale polycytemie door mutatie van erytropoëtinereceptor · Primaire hereditaire en congenitale polycytemie · Primaire familiale en congenitale erytrocytose door mutatie van erytropoëtinereceptor · Primaire hereditaire en congenitale erytrocytose · PFCE · PFCP · Primaire familiale en congenitale polycytemie · Primaire hereditaire en congenitale erytrocytose door mutatie van erytropoëtinereceptor |
| pt | Policitemia primária familiar | |
| pl | Pierwotna rodzinna policytemia | PFCP · Pierwotna rodzinna i wrodzona policytemia · Pierwotna wrodzona erytrocytoza · Rodzinna erytrocytoza · Wrodzona erytrocytoza z powodu mutacji receptora erytropoetyny · Wrodzona policytemia z powodu mutacji receptora erytropoetyny |
| cs | Primární familiární polycytémie | Familiární erytrocytóza · PFCP · Primární vrozená erytrocytóza · Primární familiární a vrozená polycytémie · Vrozená erytrocytóza způsobená mutací receptoru pro erytropoetin · Vrozená polycytémie způsobená mutací receptoru pro erytropoetin |
| uk | Первинна сімейна поліцитемія | Вроджений еритроцитоз внаслідок мутації рецепторів еритропоетину · Вроджена поліцитемія внаслідок мутації рецепторів еритропоетину · Сімейний еритроцитоз · PFCP · Первинний вроджений еритроцитоз · Первинна сімейна та вроджена поліцитемія |
| zh | 原发性家族性红细胞增多症 | 促红素受体突变所致先天性红细胞增多 |
| tr | Primer ailesel polisitemi | PFCP · Ailesel eritrositoz · Primer doğumsal eritrositoz · Primer ailesel ve doğumsal polisitemi · Eritropoietin reseptör mutasyonuna bağlı doğumsal polisitemi · Eritropoietin reseptör mutasyonuna bağlı doğumsal eritrositoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133100 | NTBT | validated | |
| ICD-10 | D75.0 | NTBT | attributed | validated |
| ICD-11 | 3A80.0 | E | specific | validated |
| MONDO | 0007572 | E | validated | |
| MeSH | C536842 | E | validated | |
| UMLS | C4551637 | E | validated | |
| GARD | 9843 | 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 (2):
- ORPHA:98427Erythrocytosis
rare hematological diseases - ORPHA:250165Genetic polycythemia
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EPOR | Disease-causing germline mutation(s) in | Assessed | HGNC:3416 | ENSG00000187266 | 133171 | 19p13.2 | erythropoietin receptor | 9359528[PMID]_9192789[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011902 | Abnormal hemoglobin | |
| HP:0002094 | Dyspnea | |
| HP:0000421 | Epistaxis | |
| HP:0012378 | Fatigue | |
| HP:0002315 | Headache | |
| HP:0001901 | Polycythemia | |
| HP:0004936 | Venous thrombosis | |
| HP:0002321 | Vertigo | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002829 | Arthralgia | |
| HP:0000989 | Pruritus | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0012735 | Cough | |
| HP:0002875 | Exertional dyspnea | |
| HP:0001907 | Thromboembolism | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90042
- This record as JSON: /data/d/90042.json