Chuvash erythrocytosis
Synonyms: VHL-related polycythemia · Von Hippel-Lindau-related erythrocytosis · VHL-related erythrocytosis · Chuvash polycythemia · Von Hippel-Lindau-related polycythemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chuvash erythrocytosis | VHL-related polycythemia · Von Hippel-Lindau-related erythrocytosis · VHL-related erythrocytosis · Chuvash polycythemia · Von Hippel-Lindau-related polycythemia |
| fr | Erythrocytose de Tchouvachie | Erythrocytose tchouvache · Polycythémie associée à von Hippel-Lindau · Polycythémie de Tchouvachie · Erythrocytose associée à von Hippel-Lindau · Erythrocytose associée à VHL · Erythrocytose Chuvash · Polycythémie Chuvash · Polyglobulie Chuvash · Polycythémie tchouvache · Polyglobulie de Tchouvachie · Polyglobulie tchouvache · Polycythémie associée à VHL · Polyglobulie associée à von Hippel-Lindau · Polyglobulie associée à VHL |
| de | Chuvash-Erythrozytose | Chuvash-Polyzythämie · VHL-assoziierte Polyzythämie · VHL-assoziierte Erythrozytose · Von-Hippel-Lindau-assoziierte Polyzythämie · Von-Hippel-Lindau-assoziierte Erythrozytose |
| es | Eritrocitosis de Chuvash | Policitemia asociada al gen Von Hippel-Lindau · Eritrocitosis asociada al gen VHL · Policitemia de Chuvash · Policitemia asociada al gen VHL · Eritrocitosis asociada al gen Von Hippel-Lindau |
| it | Eritrocitosi di Chuvash | Policitemia correlata a VHL · Eritrocitosi correlata a VHL · Eritrocitosi correlata a Von Hippel-Lindau · Policitemia correlata a Von Hippel-Lindau · Policitemia di Chuvash |
| nl | Chuvash-erytrocytose | Von Hippel-Lindau-gerelateerde erytrocytose · Chuvash-polycytemie · VHL-gerelateerde polycytemie · VHL-gerelateerde erytrocytose · Von Hippel-Lindau-gerelateerde polycytemie |
| pt | Eritrocitose de Chuvash | |
| pl | Nadkrwistość Chuvash | Nadkrwietość zależna od zespołu von Hippela i Lindau'a · Policytemia Chuvash |
| cs | Čuvašská erytrocytóza | Čuvašská polycytémie |
| uk | Чуваський еритроцитоз | Чуваська поліцитемія · Залежна від фон Гіппеля-Ліндау поліцитемія |
| zh | 楚瓦什红细胞增多症 | 希佩尔林道依赖性红细胞增多症 |
| tr | Chuvash eritrositoz | Chuvash polisitemi · Von Hippel-Lindau-bağımlı polisitemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 263400 | E | validated | |
| ICD-10 | D75.1 | NTBT | attributed | validated |
| ICD-11 | 3A80.0 | NTBT | index | validated |
| MONDO | 0009892 | E | validated | |
| UMLS | C4749274 | 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:238536Congenital secondary erythrocytosis
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VHL | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12687 | ENSG00000134086 | 608537 | 3p25.3 | von Hippel-Lindau tumor suppressor | 11987242[PMID]_24115288[PMID] |
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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/238557
- This record as JSON: /data/d/238557.json