ORPHA:247511

Autosomal dominant secondary erythrocytosis

Synonyms: Autosomal dominant secondary polycythemia

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Infancy, Neonatal
Status: active

A rare, genetic, hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal dominant secondary erythrocytosis	Autosomal dominant secondary polycythemia
fr	Erythrocytose secondaire autosomique dominante	Polycythémie secondaire autosomique dominante · Polyglobulie secondaire autosomique dominante
de	Erythrozytose, sekundäre, autosomal-dominante	Polyzythämie, sekundäre, autosomal-dominante
es	Eritrocitosis secundaria autosómica dominante	Policitemia secundaria autosómica dominante
it	Eritrocitosi secondaria autosomica dominante	Policitemia secondaria autosomica dominante
nl	Autosomaal dominante secundaire erytrocytose	Autosomaal dominante secundaire polycytemie
pt	Policitémia secundária autossómica dominante
pl	Autosomalna dominująca wtórna nadkrwistość	Autosomalna dominująca wtórna erytrocytoza
cs	Autozomálně dominantní sekundární polycytémie	Autozomálně dominantní sekundární erytrocytóza
uk	Аутосомно-домінантна вторинна поліцитемія	Аутосомно-домінантний вторинний еритроцитоз
zh	常染色体显性遗传性继发性红细胞增多症	常染色体显性遗传性继发性红细胞增多症
tr	Otozomal dominant sekonder polisitemi	Otozomal baskın sekonder eritrositoz

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	609820	BTNT		validated
OMIM	611783	BTNT		validated
OMIM	617907	BTNT		validated
OMIM	617980	BTNT		validated
OMIM	617981	BTNT		validated
ICD-10	D75.1	NTBT	attributed	validated
ICD-11	3A80.Y	NTBT	attributed	validated
MONDO	0016599	E		validated
UMLS	C5190864	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):

ORPHA:97992Rare hematologic disease

Parents in the classifications (1):

ORPHA:238536Congenital secondary erythrocytosis
rare genetic diseases; rare hematological diseases

No children.

Genes

6 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
EPAS1	Disease-causing germline mutation(s) (gain of function) in	Assessed	HGNC:3374	ENSG00000116016	603349	2p21	endothelial PAS domain protein 1	18184961[PMID]_24115288[PMID]
EPO	Disease-causing germline mutation(s) (gain of function) in	Assessed	HGNC:3415	ENSG00000130427	133170	7q22.1	erythropoietin	29514032[PMID]
EGLN1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:1232	ENSG00000135766	606425	1q42.2	egl-9 family hypoxia inducible factor 1	16407130[PMID]_24115288[PMID]
HBA1	Disease-causing germline mutation(s) in	Assessed	HGNC:4823	ENSG00000206172	141800	16p13.3	hemoglobin subunit alpha 1	34440325[PMID]
HBA2	Disease-causing germline mutation(s) in	Assessed	HGNC:4824	ENSG00000188536	141850	16p13.3	hemoglobin subunit alpha 2	34440325[PMID]
HBB	Disease-causing germline mutation(s) in	Assessed	HGNC:4827	ENSG00000244734	141900	11p15.4	hemoglobin subunit beta	34440325[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/247511
This record as JSON: /data/d/247511.json