Disease #01473

Official abbreviation OPMD
Name dystrophy, muscular, oculopharyngeal (OPMD)
OMIM ID 164300
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 115
Phenotype entries for this disease 115
Associated with 1 gene PABPN1
Associated tissues -
Disease features -
Remarks -


Individuals

115 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

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Disease     

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Genes screened

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00183404 Fam01Pat8 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD asymptomatic (no muscles affected) PABPN1 PABPN1 1 2 Vered Raz
00183405 Fam01Pat10 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD asymptomatic (no muscles affected) PABPN1 PABPN1 1 1 Vered Raz
00183406 Fam02Pat3 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 5y PABPN1 PABPN1 1 6 Vered Raz
00183407 Fam02Pat15 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 6y PABPN1 PABPN1 1 1 Vered Raz
00183408 Fam02Pat16 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 3y PABPN1 PABPN1 1 1 Vered Raz
00183409 Fam02Pat23 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 7y PABPN1 PABPN1 1 1 Vered Raz
00183410 Fam02Pat48 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD asymptomatic (no muscles affected) PABPN1 PABPN1 1 1 Vered Raz
00183411 Fam02Pat49 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD asymptomatic (no muscles affected) PABPN1 PABPN1 1 1 Vered Raz
00183412 Fam03Pat12 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 7y PABPN1 PABPN1 1 4 Vered Raz
00183413 Fam03Pat35 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 20y PABPN1 PABPN1 1 1 Vered Raz
00183414 Fam03Pat40 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 55y PABPN1 PABPN1 1 1 Vered Raz
00183415 Fam03Pat45 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 5y PABPN1 PABPN1 1 1 Vered Raz
00183416 Fam04Pat36 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 10y PABPN1 PABPN1 1 2 Vered Raz
00183417 Fam04Pat38 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 8y PABPN1 PABPN1 1 1 Vered Raz
00183418 Fam05Pat42 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 9y PABPN1 PABPN1 1 2 Vered Raz
00183419 Fam05Pat46 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 24y PABPN1 PABPN1 1 1 Vered Raz
00183420 Fam06Pat2 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD severe (two or more muscles affected); diagnosis duration 13y PABPN1 PABPN1 1 2 Vered Raz
00183421 Fam06Pat13 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 7y PABPN1 PABPN1 1 1 Vered Raz
00183422 Fam07Pat4 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 13y PABPN1 PABPN1 1 2 Vered Raz
00183423 Fam07Pat39 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 4y PABPN1 PABPN1 1 1 Vered Raz
00183424 Fam08Pat5 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD severe (two or more muscles affected); diagnosis duration 15y PABPN1 PABPN1 1 5 Vered Raz
00183425 Fam08Pat6 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 1y PABPN1 PABPN1 1 1 Vered Raz
00183426 Fam08Pat20 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 3y PABPN1 PABPN1 1 1 Vered Raz
00183427 Fam08Pat21 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 4y PABPN1 PABPN1 1 1 Vered Raz
00183428 Fam08Pat50 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD asymptomatic (no muscles affected); diagnosis duration 49y PABPN1 PABPN1 1 1 Vered Raz
00183429 Fam09Pat25 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 7y PABPN1 PABPN1 1 5 Vered Raz
00183430 Fam09Pat30 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD severe (two or more muscles affected); diagnosis duration 42y PABPN1 PABPN1 1 1 Vered Raz
00183431 Fam09Pat31 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 6y PABPN1 PABPN1 1 1 Vered Raz
00183432 Fam09Pat41 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD severe (two or more muscles affected); diagnosis duration 8y PABPN1 PABPN1 1 1 Vered Raz
00183433 Fam09Pat47 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 7y PABPN1 PABPN1 1 1 Vered Raz
00183434 Fam10Pat32 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 2y PABPN1 PABPN1 1 3 Vered Raz
00183435 Fam10Pat33 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD severe (two or more muscles affected); diagnosis duration 23y PABPN1 PABPN1 1 1 Vered Raz
00183436 Fam10Pat37 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 16y PABPN1 PABPN1 1 1 Vered Raz
00183437 Fam11Pat18 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 25y PABPN1 PABPN1 1 2 Vered Raz
00183438 Fam11Pat24 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD severe (two or more muscles affected); diagnosis duration 7y PABPN1 PABPN1 1 1 Vered Raz
00183439 Pat1 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD severe (two or more muscles affected); diagnosis duration 28y PABPN1 PABPN1 1 1 Vered Raz
00183440 Pat7 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 8y PABPN1 PABPN1 1 1 Vered Raz
00183441 Pat9 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 4y PABPN1 PABPN1 1 1 Vered Raz
00183442 Pat11 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 5y PABPN1 PABPN1 1 1 Vered Raz
00183443 Pat14 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 5y PABPN1 PABPN1 1 1 Vered Raz
00183444 Pat17 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD severe (two or more muscles affected); diagnosis duration 20y PABPN1 PABPN1 1 1 Vered Raz
00183445 Pat19 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 7y PABPN1 PABPN1 1 1 Vered Raz
00183446 Pat22 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 4y PABPN1 PABPN1 1 1 Vered Raz
00183447 Pat26 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 59y PABPN1 PABPN1 1 1 Vered Raz
00183448 Pat27 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 7y PABPN1 PABPN1 1 1 Vered Raz
00183449 Pat28 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 29y PABPN1 PABPN1 1 1 Vered Raz
00183450 Pat29 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 11y PABPN1 PABPN1 1 1 Vered Raz
00183451 Pat34 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 8y PABPN1 PABPN1 1 1 Vered Raz
00183452 Pat43 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - OPMD mild (one muscle affected); diagnosis duration 17y PABPN1 PABPN1 1 1 Vered Raz
00183453 Pat44 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - OPMD severe (two or more muscles affected); diagnosis duration 20y PABPN1 PABPN1 1 1 Vered Raz
00183462 - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183463 - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183464 - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183465 - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - OPMD progressive ptosis, no histological evidence rimmed vacuoles/inclusion bodies PABPN1 PABPN1 2 1 Johan den Dunnen
00183466 - PubMed: Robinson 2006 3-generation family, 5 affecteds F - United Kingdom (Great Britain) Europe NW - 0 - - OPMD - PABPN1 PABPN1 2 5 Johan den Dunnen
00183467 - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - OPMD - PABPN1 PABPN1 2 20 Johan den Dunnen
00183468 - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - OPMD - PABPN1 PABPN1 2 6 Johan den Dunnen
00183469 - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - OPMD - PABPN1 PABPN1 2 4 Johan den Dunnen
00183470 - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - OPMD - PABPN1 PABPN1 2 18 Johan den Dunnen
00183471 - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - OPMD - PABPN1 PABPN1 2 6 Johan den Dunnen
00183472 - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - OPMD - PABPN1 PABPN1 2 7 Johan den Dunnen
00183473 - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - OPMD - PABPN1 PABPN1 2 5 Johan den Dunnen
00183474 - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - OPMD - PABPN1 PABPN1 2 4 Johan den Dunnen
00183475 - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183476 - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - OPMD - PABPN1 PABPN1 2 4 Johan den Dunnen
00183477 - PubMed: Brais 1998 family M - Canada French - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183478 - PubMed: Brais 1998 70 families - - Canada French - 0 - - OPMD - PABPN1 PABPN1 2 271 Johan den Dunnen
00183479 - PubMed: Brais 1998 family, brother of 09462747-FamF151s M - Canada French - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183480 - PubMed: Brais 1998 family, sister of 09462747-FamF151b F - Canada French - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183481 - PubMed: Brais 1998 - F - Canada French - 0 - - OPMD late onset, progressive (biopsy proven PABPN1 PABPN1 2 1 Johan den Dunnen
00183482 - PubMed: Scacheri 1999 4-generation family, 7 affecteds - - United States Cajun - 0 - - OPMD - PABPN1 PABPN1 2 7 Johan den Dunnen
00183483 - PubMed: Robinson 2005 family history OPMD, no surviving relatives - - United Kingdom (Great Britain) - - 0 - - OPMD asymptomatic PABPN1 PABPN1 2 1 Johan den Dunnen
00183484 - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - OPMD tongue weakness, speech problems PABPN1 PABPN1 2 1 Johan den Dunnen
00183485 - PubMed: Scacheri 1999 4-generation family, 8 affecteds - - United States Cajun - 0 - - OPMD - PABPN1 PABPN1 2 8 Johan den Dunnen
00183486 - PubMed: Scacheri 1999 3-generation family, 4 affecteds - - United States Cajun - 0 - - OPMD - PABPN1 PABPN1 2 4 Johan den Dunnen
00183487 - PubMed: Scacheri 1999 - - - Italy - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183488 - PubMed: Schober 2001 5-generation family, 7 affecteds - - Germany - - 0 - - OPMD neuromuscular disorder PABPN1 PABPN1 2 7 Johan den Dunnen
00183489 - PubMed: Nakamoto 2002 - - - Japan - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183490 - PubMed: Nakamoto 2002 patient and affected sister - - Japan - - 0 - - OPMD - PABPN1 PABPN1 2 2 Johan den Dunnen
00183491 - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183492 - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183493 - PubMed: van der Sluijs 2003 - F - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183494 - PubMed: van der Sluijs 2003 - F - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183495 - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183496 - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183497 - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183498 - PubMed: van der Sluijs 2003 - F - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183499 - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183500 - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183501 - PubMed: van der Sluijs 2003 - F - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183502 - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183503 - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183504 - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183505 - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183506 - PubMed: van der Sluijs 2003 - F - Netherlands - - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183507 - PubMed: Brais 1998 father of 09462747-FamB.II1 M - Canada French - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183508 - PubMed: Brais 1998 mother of 09462747-FamB.II1 F - Canada French - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183509 - PubMed: Brais 1998 - F - Canada French - 0 - - OPMD early onset PABPN1 PABPN1 2 1 Johan den Dunnen
00183512 - PubMed: Brais 1998 brother of 09462747-FamDPatV M - Canada French - 0 - - OPMD - PABPN1 PABPN1 2 1 Johan den Dunnen
00183513 - PubMed: Brais 1998 brother of 09462747-FamDPatVIII M - Canada French - 0 - - OPMD more sever phenotype PABPN1 PABPN1 2 1 Johan den Dunnen
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