Disease #03650 (PHOAR-2 (osteoarthropathy, hypertrophic, primary, autosomal recessive, type 2 (PHOAR-2)), OMIM:614441)

Official abbreviation PHOAR-2
Name osteoarthropathy, hypertrophic, primary, autosomal recessive, type 2 (PHOAR-2)
OMIM ID 614441
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 26
Phenotype entries for this disease 26
Associated with 1 gene SLCO2A1
Associated tissues -
Disease features -
Remarks -


Individuals

26 entries on 1 page. Showing entries 1 - 26.
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00117578 - PubMed: Zhang 2012 4-generation family, 1 affected M yes China Chinese, Han - 0 - - PHOAR-2 primary hypertrophic osteoarthropathy (PHO) SLCO2A1 SLCO2A1 2 1 Johan den Dunnen
00117580 - - - - - France - - 0 - - PHOAR-2 Pachydermoperiostosis SLCO2A1 SLCO2A1 2 1 Ian Carr
00117581 - - - - - Italy - - 0 - - PHOAR-2 Symptoms from puberty; Clinical features as described in Castori et al., 2005; Pachydermoperiostosis SLCO2A1 SLCO2A1 1 1 Ian Carr
00117582 - - - - - Turkey - - 0 - - PHOAR-2 Profound anemia (Hb 36 g/l), pancytopenia, myelofibrosis; Pachydermoperiostosis SLCO2A1 SLCO2A1 1 1 Ian Carr
00117583 - - - - - Italy - - 0 - - PHOAR-2 Joint swelling 14y; PHO diagnosed 15y; Pachydermoperiostosis SLCO2A1 SLCO2A1 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 SLCO2A1 SLCO2A1 1 1 Ian Carr
00117585 - - - - - - North African - 0 - - PHOAR-2 PHO diagnosed 15y; Anemia 14y, erythropoietin therapy; Pachydermoperiostosis SLCO2A1 SLCO2A1 1 1 Ian Carr
00117586 - - Asymptomatic aged 19y F - - North African - 0 - - PHOAR-2 Pachydermoperiostosis SLCO2A1 SLCO2A1 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) SLCO2A1 SLCO2A1 2 1 Johan den Dunnen
00117589 - - Onset 14y. - - Algeria - - 0 - - PHOAR-2 Pachydermoperiostosis SLCO2A1 SLCO2A1 1 1 Ian Carr
00117591 - PubMed: Zhang 2012 4-generation family, 1 affected M - China Chinese, Han - 0 - - PHOAR-2 primary hypertrophic osteoarthropathy (PHO) SLCO2A1 SLCO2A1 2 1 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 SLCO2A1 SLCO2A1 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 SLCO2A1 SLCO2A1 2 1 Jirko Kühnisch
00117595 - - - M - Turkey Turkish - 0 - - PHOAR-2 delayed cranial suture closure;primary hypertrophic osteoarthropathy SLCO2A1 SLCO2A1 2 1 Jirko Kühnisch
00117596 - - - M - Turkey Turkish - 0 - - PHOAR-2 clubbing of finger and toes;primary hypertrophic osteoarthropathy SLCO2A1 SLCO2A1 1 1 Jirko Kühnisch
00117598 - - - - - - Kabardin (Caucasus) - 0 - - PHOAR-2 Symptoms from puberty; PHO diagnosed 24y; Ulcerative colitis; Pachydermoperiostosis SLCO2A1 SLCO2A1 2 1 Ian Carr
00117599 - - - - - - Kabardin (Caucasus) - 0 - - PHOAR-2 Symptoms from 17y; Pachydermoperiostosis SLCO2A1 SLCO2A1 2 1 Ian Carr
00117601 - - - - - (China) - - 0 - - PHOAR-2 Onset 16y.; Pachydermoperiostosis SLCO2A1 SLCO2A1 2 1 Ian Carr
00117602 - - - - - Netherlands - - 0 - - PHOAR-2 Symptoms from puberty; PHO diagnosed 19y; Macrocytic anemia; Pachydermoperiostosis SLCO2A1 SLCO2A1 1 1 Ian Carr
00117603 - - Myelofibrosis - - Colombia - - 0 - - PHOAR-2 Onset 19y; Anemia 40y. Pancytopenia - myelofibrosis diagnosed 49y; Pachydermoperiostosis SLCO2A1 SLCO2A1 1 1 Ian Carr
00117604 - - - - - Colombia - - 0 - - PHOAR-2 Onset 17y; Pachydermoperiostosis SLCO2A1 SLCO2A1 1 1 Ian Carr
00117605 - - - - - Colombia - - 0 - - PHOAR-2 Onset 12y.; Pachydermoperiostosis SLCO2A1 SLCO2A1 1 1 Ian Carr
00117606 - - - - - Colombia - - 0 - - PHOAR-2 Onset 17y; Pachydermoperiostosis SLCO2A1 SLCO2A1 1 1 Ian Carr
00117608 - - - - - Netherlands - - 0 - - PHOAR-2 Atrial septal defect; PHO onset 11y; Pachydermoperiostosis SLCO2A1 SLCO2A1 1 1 Ian Carr
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 SLCO2A1 SLCO2A1 2 1 Jirko Kühnisch
00117612 - - - - - Turkey - - 0 - - PHOAR-2 PHO diagnosed 21y; Anemia & myelofibrosis; Pachydermoperiostosis SLCO2A1 SLCO2A1 1 1 Ian Carr
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