ERYTHROCYTOSIS, FAMILIAL, 3

General Information (adopted from Orphanet):

Synonyms, Signs: ECYT3
Number of Symptoms 6
OrphanetNr:
OMIM Id: 609820
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001901) Polycythemia 16 / 7739
2
(HPO:0001899) Increased hematocrit 6 / 7739
3
(HPO:0001898) Increased red blood cell mass 5 / 7739
4
(HPO:0001900) Increased hemoglobin 7 / 7739
5
(OMIM) Normal oxygen affinity of hemoglobin 2 / 7739
6
(OMIM) Normal serum erythropoietin (EPO, 133170) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Percy et al. (2006) reported a family in which a father, son, and daughter had erythrocytosis characterized by increased serum hemoglobin and hematocrit. Serum levels of erythropoietin (EPO; 133170) were inappropriately normal, suggesting dysregulation of the EPO axis. ...
Molecular genetics OMIM In all 3 affected members of a family with erythrocytosis, Percy et al. (2006) identified a heterozygous mutation in the EGLN1 gene (606425.0001).

Percy et al. (2007) identified a second heterozygous mutation in the EGLN1 gene ...