Primary familial polycythemia

General Information (adopted from Orphanet):

Synonyms, Signs: POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL
ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN
ECYT1
PFCP
Congenital polycythemia due to erythropoietin receptor mutation
Primary familial and congenital polycythemia
Familial erythrocytosis
Congenital erythrocytosis due to erythropoietin receptor mutation
Primary congenital erythrocytosis
Number of Symptoms 33
OrphanetNr: 90042
OMIM Id: 133100
ICD-10: D75.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic polycythemia
 -Rare genetic disease
Polycythemia
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000421) Epistaxis Very frequent [Orphanet] 85 / 7739
2
 (HPO:0002321) Vertigo 58 / 7739
3
 (HPO:0002141) Gait imbalance Very frequent [Orphanet] 55 / 7739
4
 (HPO:0012378) Fatigue 50 / 7739
5
 (HPO:0002315) Headache Very frequent [Orphanet] 175 / 7739
6
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
7
 (HPO:0001744) Splenomegaly 337 / 7739
8
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
9
 (HPO:0001050) Plethora 3 / 7739
10
 (HPO:0000989) Pruritus Frequent [Orphanet] 111 / 7739
11
 (HPO:0001342) Cerebral hemorrhage 24 / 7739
12
 (HPO:0001677) Coronary artery disease 58 / 7739
13
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
14
 (HPO:0000822) Hypertension 224 / 7739
15
 (HPO:0001658) Myocardial infarction 30 / 7739
16
 (HPO:0004936) Venous thrombosis Very frequent [Orphanet] 41 / 7739
17
 (HPO:0003010) Prolonged bleeding time Occasional [Orphanet] 88 / 7739
18
 (HPO:0011902) Abnormal hemoglobin Very frequent [Orphanet] 18 / 7739
19
 (HPO:0001899) Increased hematocrit 6 / 7739
20
 (HPO:0001898) Increased red blood cell mass 5 / 7739
21
 (HPO:0001900) Increased hemoglobin 7 / 7739
22
 (HPO:0001877) Abnormality of erythrocytes Very frequent [Orphanet] 18 / 7739
23
 (HPO:0001901) Polycythemia 16 / 7739
24
 (HPO:0002641) Peripheral thrombosis 2 / 7739
25
 (HPO:0002875) Exertional dyspnea 29 / 7739
26
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
27
 (HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
28
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
29
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
30
 ([DEL]MedDRA:10011224) Cough Occasional [Orphanet] 70 / 7739
31
 (OMIM) Low or normal serum erythropoietin 1 / 7739
32
 (OMIM) Normal oxygen affinity of hemoglobin 2 / 7739
33
 (OMIM) Hypersensitivity of erythroid colony-forming units to erythropoietin (EPO, 133170) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial erythrocytosis-1 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. There is no increase in platelets or leukocytes ...
Clinical Description OMIM Engelking (1920) and Wieland (1932) separately reported a family in which 11 members of 3 generations had erythrocytosis. In some, the abnormality was noted in childhood. A patient reported by Auerbach et al. (1958) was again reported by ...
Molecular genetics OMIM In all 29 affected members of a large Finnish family with autosomal dominant erythrocytosis reported by Juvonen et al. (1991), de la Chapelle et al. (1993) identified a heterozygous mutation in the EPOR gene (133171.0001).

In ...