ERYTHROCYTOSIS, FAMILIAL, 4

General Information (adopted from Orphanet):

Synonyms, Signs: ECYT4
Number of Symptoms 3
OrphanetNr:
OMIM Id: 611783
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:0001899) Increased hematocrit 6 / 7739
2
(HPO:0001900) Increased hemoglobin 7 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial erythrocytosis-4 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration and elevated serum erythropoietin (EPO; 133170).
Clinical Description OMIM Percy et al. (2008) described a United Kingdom family with erythrocytosis in 3 generations. The index patient was a 43-year-old man who, at 23 years of age, had been found to have an elevated hemoglobin level (21 g/dl) ...
Molecular genetics OMIM In affected members of a family with erythrocytosis, Percy et al. (2008) detected heterozygosity for a gly537-to-trp mutation in the HIF2A gene (G537W; 603349.0001). Functional studies indicated that this mutation led to stabilization of the HIF2A protein and ...