All individuals with variants in gene SLCO2A1

36 entries on 1 page. Showing entries 1 - 36.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00117578 - PubMed: Zhang 2012 4-generation family, 1 affected M yes China Chinese, Han - 0 - - PHOAR-2 primary hypertrophic osteoarthropathy (PHO) 2 1 Johan den Dunnen
00117579 - PubMed: Zhang 2012 4-generation family, 6 unaffected carriers - yes China Chinese, Han - 0 - - ? - 1 6 Johan den Dunnen
00117580 - - - - - France - - 0 - - PHOAR-2 Pachydermoperiostosis 2 1 Ian Carr
00117581 - - - - - Italy - - 0 - - PHOAR-2 Symptoms from puberty; Clinical features as described in Castori et al., 2005; Pachydermoperiostosis 1 1 Ian Carr
00117582 - - - - - Turkey - - 0 - - PHOAR-2 Profound anemia (Hb 36 g/l), pancytopenia, myelofibrosis; Pachydermoperiostosis 1 1 Ian Carr
00117583 - - - - - Italy - - 0 - - PHOAR-2 Joint swelling 14y; PHO diagnosed 15y; Pachydermoperiostosis 1 1 Ian Carr
00117584 - - - - - Afghanistan North African - 0 - - PHOAR-2 PHO diagnosed 17y; Anemia 17y, myelofibrosis diagnosed 32y, erythropoietin therapy from 21y; Hyperplastic gastropathy; Pachydermoperiostosis 1 1 Ian Carr
00117585 - - - - - - North African - 0 - - PHOAR-2 PHO diagnosed 15y; Anemia 14y, erythropoietin therapy; Pachydermoperiostosis 1 1 Ian Carr
00117586 - - Asymptomatic aged 19y F - - North African - 0 - - PHOAR-2 Pachydermoperiostosis 1 1 Ian Carr
00117587 - PubMed: Zhang 2012 3-generation family, 1 affected, carrier parents M - China Chinese, Han - 0 - - PHOAR-2 primary hypertrophic osteoarthropathy (PHO) 2 1 Johan den Dunnen
00117588 - PubMed: Zhang 2012 unaffected father 22197487-Fam3-III1 M - China Chinese, Han - 0 - - ? - 1 1 Johan den Dunnen
00117589 - - Onset 14y. - - Algeria - - 0 - - PHOAR-2 Pachydermoperiostosis 1 1 Ian Carr
00117590 - - unaffected carrier relative (Fam3-I:1) M - Netherlands Caucasian - 0 - - Digital clubbing, isolated congenital 21y-clubbing of finger and toes 1 2 Jirko Kühnisch
00117591 - PubMed: Zhang 2012 4-generation family, 1 affected M - China Chinese, Han - 0 - - PHOAR-2 primary hypertrophic osteoarthropathy (PHO) 2 1 Johan den Dunnen
00117592 - PubMed: Zhang 2012 4-generation family, unaffected carriers Fam2-I3/II5/II8 - - China Chinese, Han - 0 - - ? - 1 3 Johan den Dunnen
00117593 - - - M - Turkey Turkish - 0 - - PHOAR-2 13y-clubbing of finger and toes; periostosis/diaphyseal expansion, arthralgia/swollen joints, hyperhidrosis, pachydermia, cutis gyrata, seborrheic hyperplasia; primary hypertrophic osteoarthropathy 4 1 Jirko Kühnisch
00117594 - - - M - Turkey Turkish - 0 - - PHOAR-2 14y-clubbing of finger and toes; periostosis/diaphyseal expansion, arthralgia/swollen joints, hyperhidrosis, pachydermia, cutis gyrata, seborrheic hyperplasia; primary hypertrophic osteoarthropathy 2 1 Jirko Kühnisch
00117595 - - - M - Turkey Turkish - 0 - - PHOAR-2 delayed cranial suture closure;primary hypertrophic osteoarthropathy 2 1 Jirko Kühnisch
00117596 - - - M - Turkey Turkish - 0 - - PHOAR-2 clubbing of finger and toes;primary hypertrophic osteoarthropathy 1 1 Jirko Kühnisch
00117597 - - 5 unaffected carrier relatives Fam1-IV:7/V:1/V:4/V:6/V:7 - - Turkey Turkish - 0 - - ? - 1 5 Jirko Kühnisch
00117598 - - - - - - Kabardin (Caucasus) - 0 - - PHOAR-2 Symptoms from puberty; PHO diagnosed 24y; Ulcerative colitis; Pachydermoperiostosis 2 1 Ian Carr
00117599 - - - - - - Kabardin (Caucasus) - 0 - - PHOAR-2 Symptoms from 17y; Pachydermoperiostosis 2 1 Ian Carr
00117600 - PubMed: Zhang 2012 unaffected mother 22197487-Fam3-III1 F - China Chinese, Han - 0 - - ? - 1 1 Johan den Dunnen
00117601 - - - - - (China) - - 0 - - PHOAR-2 Onset 16y.; Pachydermoperiostosis 2 1 Ian Carr
00117602 - - - - - Netherlands - - 0 - - PHOAR-2 Symptoms from puberty; PHO diagnosed 19y; Macrocytic anemia; Pachydermoperiostosis 1 1 Ian Carr
00117603 - - Myelofibrosis - - Colombia - - 0 - - PHOAR-2 Onset 19y; Anemia 40y. Pancytopenia - myelofibrosis diagnosed 49y; Pachydermoperiostosis 1 1 Ian Carr
00117604 - - - - - Colombia - - 0 - - PHOAR-2 Onset 17y; Pachydermoperiostosis 1 1 Ian Carr
00117605 - - - - - Colombia - - 0 - - PHOAR-2 Onset 12y.; Pachydermoperiostosis 1 1 Ian Carr
00117606 - - - - - Colombia - - 0 - - PHOAR-2 Onset 17y; Pachydermoperiostosis 1 1 Ian Carr
00117607 - - - F - Colombia - - 0 - - ? Clinically does not have PHO; Anemia - multiple transfusions. 1 1 Ian Carr
00117608 - - - - - Netherlands - - 0 - - PHOAR-2 Atrial septal defect; PHO onset 11y; Pachydermoperiostosis 1 1 Ian Carr
00117609 - PubMed: Zhang 2012 4-generation family, unaffected carriers Fam2-II2/II7 - - China Chinese, Han - 0 - - ? - 1 2 Johan den Dunnen
00117610 - - unaffected carrier relative (Fam2-II:5) M - Iraq - - 0 - - PHOAR-2 17y-clubbing of finger and toes; acroosteolysis, periostosis/diaphyseal expansion, arthralgia/swollen joints, hyperhidrosis, pachydermia, cutis gyrata, seborrheic hyperplasia;primary hypertrophic osteoarthropathy 2 1 Jirko Kühnisch
00117611 - - unaffected carrier relative of Fam2-II:6 - - Iraq - - 0 - - ? - 1 1 Jirko Kühnisch
00117612 - - - - - Turkey - - 0 - - PHOAR-2 PHO diagnosed 21y; Anemia & myelofibrosis; Pachydermoperiostosis 1 1 Ian Carr
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