Disease #01473

Official abbreviation OPMD
Name dystrophy, muscular, oculopharyngeal (OPMD)
OMIM ID 164300
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
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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Disease     

Phenotype details     

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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