Phenotypes for disease #01322 (ECYT1 (erythrocytosis, familial, type 1 (ECYT-1)), OMIM:133100)

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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000021630 sport performance; incl. Eero Mäntyranta, olympic skying champion - - Familial, autosomal dominant - - - - - Johan den Dunnen 00025513
0000173444 PFCP, congenital erythrocytosis primary familial congenital polycythemia ECYT-1 Familial, autosomal dominant - 15y - - - Celeste Bento 00230960
0000173445 - erythrocytosis ECYT-1 Familial, autosomal dominant - 7y 14y - - Celeste Bento 00230961
0000173446 sporadic congenital primary erythrocytosis, neonatal polyglobuly erythrocytosis ECYT-1 Isolated (sporadic) - 5y - - - Celeste Bento 00230962
0000173447 PFCP, congenital erythrocytosis primary familial congenital polycythemia ECYT-1 Familial, autosomal dominant - - - - - Celeste Bento 00230963
0000173448 The propositus had extensive coronary artery disease and died of acute cerebral hemorrhage 2r after the diagnosis of PFCP. erythrocytosis ECYT-1 Familial, autosomal dominant - 56y - - - Celeste Bento 00230964
0000173449 PFCP, congenital erythrocytosis primary familial congenital polycythemia ECYT-1 - - 73y - - - Celeste Bento 00230965
0000173450 Her father and three other paternal relatives were also affected; three of them had coronary disease, congenital erythrocytosis erythrocytosis ECYT-1 Familial, autosomal dominant - 8y - - - Celeste Bento 00230966
0000173451 The proband (III-3), who was first evaluated at 15 years of age because of persistent headaches, had a hemoglobin level of 20.7 g/dL and a hematocrit of 62%, congenital erythrocytosis erythrocytosis ECYT-1 Familial, autosomal dominant - 15y - - - Celeste Bento 00230967
0000173452 PFCP, congenital erythrocytosis primary familial congenital polycythemia ECYT-1 Familial, autosomal dominant - 15y - - - Celeste Bento 00230968
0000173453 PFCP, congenital erythrocytosis primary familial congenital polycythemia ECYT-1 Familial, autosomal dominant - 48y - - - Celeste Bento 00230969
0000173454 PFCP, congenital erythrocytosis primary familial congenital polycythemia ECYT-1 Familial, autosomal dominant - 47y - - - Celeste Bento 00230970
0000173455 PFCP, congenital erythrocytosis primary familial congenital polycythemia - Familial, autosomal dominant - 9y - - - Celeste Bento 00230971
0000173456 - polycythemia - Familial, autosomal dominant - - - - - Celeste Bento 00230972
0000173457 - erythroleukemia - - - - - - - Celeste Bento 00230973
0000173458 - erythrocytosis - - - 62y - - - Celeste Bento 00230974
0000173459 - erythrocytosis - Isolated (sporadic) - 42y 31y - - Celeste Bento 00230975
0000173460 - erythrocytosis - Isolated (sporadic) - - - - - Celeste Bento 00230976
0000173461 PFCP, family’s medical history revealed previous erythrocytosis of the 40-year old mother and current erythrocytosis of the 23-year old brother; primary familial congenital polycythemia ECYT-1 Familial, autosomal dominant - 14y - - - Celeste Bento 00230977
0000173462 Diagnosed at age 14 with erythrocytosis, mild splenomegaly, mild hypertension, and normal serum EPO, which were consistent with PFCP, congenital erythrocytosis erythrocytosis ECYT-1 Familial, autosomal dominant - 14y 41y - - Celeste Bento 00230978
0000173463 PFCP, congenital erythrocytosis primary familial congenital polycythemia ECYT-1 Familial, autosomal dominant - 24y 29y - - Celeste Bento 00230979
0000173464 Affected family members were plethoric and often had additional symptoms, including hypertension, headaches, dizziness, nosebleeds, and exertional dyspnea, which were most pronounced in the males, congenital erythrocytosis congenital erythrocytosis ECYT-1 Familial, autosomal dominant - - - - - Celeste Bento 00230980
0000173466 PFCP, congenital erythrocytosis primary familial congenital polycythemia ECYT-1 Familial, autosomal dominant - - 63y - - Celeste Bento 00230982
0000173467 PFCP, congenital erythrocytosis primary familial congenital polycythemia ECYT-1 Familial, autosomal dominant - - 45y - - Celeste Bento 00230983
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