Disease #01322 (ECYT1 (erythrocytosis, familial, type 1 (ECYT-1)), OMIM:133100)

Official abbreviation ECYT1
Name erythrocytosis, familial, type 1 (ECYT-1)
OMIM ID 133100
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 24
Phenotype entries for this disease 24
Associated with 3 genes EPOR, JAK2, SH2B3
Associated tissues -
Disease features -
Remarks -


Individuals

24 entries on 1 page. Showing entries 1 - 24.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00025513 - PubMed: de la Chapelle 1993, PubMed: Juvonen 1991 extensive 5-generation family, >30 affecteds - - - Europe, north, Laplander - 0 - - ECYT1 sport performance; incl. Eero Mäntyranta, olympic skying champion EPOR EPOR 1 5 Johan den Dunnen
00230960 - PubMed: Arcasoy MO 2002 family, 16 affected F no United States - - 0 - - ECYT1 PFCP, congenital erythrocytosis EPOR EPOR 1 16 Celeste Bento
00230961 - PubMed: S Perrotta 2010 family, 5 affected M - (Italy) - - 0 - - ECYT1 - EPOR EPOR 1 5 Celeste Bento
00230962 - PubMed: Rives S 2007 - - - - - - 0 - - ECYT1 sporadic congenital primary erythrocytosis, neonatal polyglobuly EPOR EPOR 1 1 Celeste Bento
00230963 - PubMed: Furukawa 1997 - - - Japan - - 0 - - ECYT1 PFCP, congenital erythrocytosis EPOR EPOR 1 1 Celeste Bento
00230964 - PubMed: Kralovics 1998 family, 4 affected M - (United States) - 58y 0 - - ECYT1 The propositus had extensive coronary artery disease and died of acute cerebral hemorrhage 2r after the diagnosis of PFCP. EPOR EPOR 1 4 Celeste Bento
00230965 - - - M - Spain - - 0 - - ECYT1 PFCP, congenital erythrocytosis EPOR EPOR 1 1 Celeste Bento
00230966 - PubMed: Kralovics 1977; PubMed: Arcasoy 1977 family, 4 affected F - Czech Republic - - 0 - - ECYT1 Her father and three other paternal relatives were also affected; three of them had coronary disease, congenital erythrocytosis EPOR EPOR 1 4 Celeste Bento
00230967 - PubMed: Kralovics 1977; PubMed: Arcasoy 1997 family, 6 affected F - United States - - 0 - - ECYT1 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 EPOR EPOR 1 6 Celeste Bento
00230968 - PubMed: O'Rourke 2011 family, 2 affected M - (Australia) - - 0 - - ECYT1 PFCP, congenital erythrocytosis EPOR EPOR 1 2 Celeste Bento
00230969 - PubMed: Al-Sheikh 2008 family, 4 affected M - (France) - - 0 - - ECYT1 PFCP, congenital erythrocytosis EPOR EPOR 1 4 Celeste Bento
00230970 - PubMed: Al-Sheikh 2008 family, 2 affected F - (France) - - 0 - - ECYT1 PFCP, congenital erythrocytosis EPOR EPOR 1 2 Celeste Bento
00230971 - PubMed: Al-Sheikh 2008 family, 3 affected F - (France) - - 0 - - ECYT1 PFCP, congenital erythrocytosis EPOR EPOR 1 3 Celeste Bento
00230972 - PubMed: Le Couedic 1996; PubMed: Al-Sheikh 2008 family, 3 affected - - (France) - - 0 - - ECYT1 - EPOR EPOR 1 3 Celeste Bento
00230973 - PubMed: Le Couedic 1996; PubMed: Al-Sheikh 2008 - - - (France) - - 0 - - ECYT1 - EPOR EPOR 1 1 Celeste Bento
00230974 - PubMed: Al-Sheikh 2008 - M - (France) - - 0 - - ECYT1 - EPOR EPOR 1 1 Celeste Bento
00230975 - PubMed: Sokol L 1994 - M - (United States) - - 0 - - ECYT1 - EPOR EPOR 1 1 Celeste Bento
00230976 - PubMed: Kralovics R 1997 The mutated allele of the affected grandmother was not passed to either of her two affected children or to her one healthy child; thus, the disease phenotype was not linked to the C6148T mutation in this family. F - (United States) - - 0 - - ECYT1 - EPOR EPOR 1 1 Celeste Bento
00230977 - PubMed: Rives S 2007 family, 3 affected F - (Spain) - - 0 - - ECYT1 PFCP, family’s medical history revealed previous erythrocytosis of the 40-year old mother and current erythrocytosis of the 23-year old brother; EPOR EPOR 1 3 Celeste Bento
00230978 - PubMed: Kralovics R 1997 family, 2 affected M - Czech Republic - - 0 - - ECYT1 Diagnosed at age 14 with erythrocytosis, mild splenomegaly, mild hypertension, and normal serum EPO, which were consistent with PFCP, congenital erythrocytosis EPOR EPOR 1 2 Celeste Bento
00230979 - PubMed: Sokol L 1995 family, 4 affected M - (United States) - - 0 - - ECYT1 PFCP, congenital erythrocytosis EPOR EPOR 1 4 Celeste Bento
00230980 - PubMed: Watowich SS 1999 family, 7 affected F - Sweden - - 0 - - ECYT1 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 EPOR EPOR 1 7 Celeste Bento
00230982 - {GenBankJQ821734.1} family, 3 affected M no Spain - - 0 - - ECYT1 PFCP, congenital erythrocytosis EPOR EPOR 1 3 Celeste Bento
00230983 - - family, 3 affected M no Spain - - 0 - - ECYT1 PFCP, congenital erythrocytosis EPOR EPOR 1 3 Celeste Bento
Legend   How to query  

  Powered by LOVD v.3.0 Build 27
LOVD software ©2004-2022 Leiden University Medical Center 		There are currently no updates.