ORPHA:247378
Autosomal recessive secondary erythrocytosis not associated with VHL gene
Synonyms: Autosomal recessive secondary erythrocytosis, non-Chuvash type · Autosomal recessive secondary erythrocytosis not associated with von Hippel-Lindau gene · Autosomal recessive secondary polycythemia, non-Chuvash type · Autosomal recessive secondary polycythemia not associated with von Hippel-Lindau gene · Autosomal recessive secondary polycythemia not associated with VHL gene
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive secondary erythrocytosis not associated with VHL gene | Autosomal recessive secondary erythrocytosis, non-Chuvash type · Autosomal recessive secondary erythrocytosis not associated with von Hippel-Lindau gene · Autosomal recessive secondary polycythemia, non-Chuvash type · Autosomal recessive secondary polycythemia not associated with von Hippel-Lindau gene · Autosomal recessive secondary polycythemia not associated with VHL gene |
| fr | Erythrocytose secondaire autosomique récessive non associée à VHL | Polyglobulie secondaire autosomique récessive type non Chuvash · Erythrocytose secondaire autosomique récessive type non Chuvash · Polyglobulie secondaire autosomique récessive non associée à von Hippel-Lindau · Erythrocytose secondaire autosomique récessive non associée à von Hippel-Lindau · Polycythémie secondaire autosomique récessive non associée à von Hippel-Lindau · Polyglobulie secondaire autosomique récessive non associée à VHL · Erythrocytose secondaire autosomique récessive type non tchouvache · Polycythémie secondaire autosomique récessive non associée à VHL · Polycythémie secondaire autosomique récessive type non tchouvache · Polycythémie secondaire autosomique récessive type non Chuvash |
| de | Erythrozytose, sekundäre, autosomal-rezessive, nicht VHL-Gen-assoziierte | Polyzythämie, sekundäre, autosomal-rezessive, Non-Chuvash-Typ · Sekundäre Erythrozytose, autosomal-rezessive, nicht Chuvash-Typ |
| es | Eritrocitosis secundaria autosómica recesiva no asociada al gen VHL | Policitemia secundaria autosómica recesiva tipo no Chuvash · Eritrocitosis secundaria autosómica recesiva no asociada al gen Von Hippel-Lindau · Eritrocitosis secundaria autosómica recesiva tipo no Chuvash · Policitemia secundaria autosómica recesiva no asociada al gen VHL · Policitemia secundaria autosómica recesiva no asociada al gen Von Hippel-Lindau |
| it | Eritrocitosi secondaria autosomica recessiva non associata al gene VHL | Policitemia secondaria autosomica recessiva non associata al gene von Hippel-Lindau · Eritrocitosi secondaria autosomica recessiva non associata al gene von Hippel-Lindau · Policitemia secondaria autosomica recessiva non associata al gene VHL · Eritrocitosi secondaria autosomica recessiva, tipo non-Chuvash · Policitemia secondaria autosomica recessiva, tipo non-Chuvash |
| nl | Autosomaal recessieve secundaire erytrocytose niet geassocieerd met VHL-gen | Autosomaal recessieve secundaire erytrocytose, non-Chuvash-type · Autosomaal recessieve secundaire polycytemie, non-Chuvash-type · Autosomaal recessieve secundaire polycytemie niet geassocieerd met VHL-gen · Autosomaal recessieve secundaire erytrocytose niet geassocieerd met von Hippel-Lindau-gen · Autosomaal recessieve secundaire polycytemie niet geassocieerd met von Hippel-Lindau-gen |
| pt | Policitémia secundária autossómica recessiva não associada ao gene VHL | |
| pl | Autosomalna recesywna wtórna nadkrwistość niezwiązana z genem VHL | Autosomalna recesywna wtórna erytrocytoza niezwiązana z genem VHL · Autosomalna recesywna wtórna erytrocytoza, nie typ Chuvasha · Autosomalna recesywna wtórna nadkrwistość, nie typ Chuvasha |
| cs | Autozomálně recesivní sekundární polycytémie neasociovaná s VHL genem | Autozomálně recesivní sekundární erytrocytóza neasociovaná s VHL genem · Autozomálně recesivní sekundární erytrocytóza, non-Chuvashův typ · Autozomálně recesivní sekundární polycytémie, non-Chuvashův typ |
| uk | Аутосомно-рецесивна вторинна поліцитемія, не повязана з геном VHL | Аутосомно-рецесивний вторинний еритроцитоз, не повязаний з геном VHL · Аутосомно-рецесивний вторинний еритроцитоз, не чуваський тип · Аутосомно-рецесивна вторинна поліцитемія, не чуваського типу |
| zh | VHL基因无关性常染色体隐性遗传性继发性红细胞增多症 | VHL基因无关性常染色体隐性遗传性继发性红细胞增多症 |
| tr | VHL geni -ilişkili olmayan otozomal resesif sekonder polisitemi | Otozomal çekinik sekonder polisitemi, Chuvash olmayan tip · Otozomal çekinik sekonder eritrositoz, Chuvash olmayan tip · VHL geni ile ilişkili olmayan otozomal çekinik sekonder eritrositoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D75.1 | NTBT | attributed | validated |
| ICD-11 | 3A80.Y | NTBT | attributed | validated |
| MONDO | 0016598 | E | validated | |
| UMLS | C5191076 | 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:238536Congenital secondary erythrocytosis
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 |
|---|---|---|---|---|---|---|---|---|
| BPGM | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1093 | ENSG00000172331 | 613896 | 7q33 | bisphosphoglycerate mutase | 34440325[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
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/247378
- This record as JSON: /data/d/247378.json