Disease #04293

Official abbreviation OPA
Name atrophy, optic (OPA)
OMIM ID -
Individuals reported having this disease 620
Phenotype entries for this disease 576
Associated with 7 genes ACO2, DNM1L, OPA1, OPA3, RTN4IP1, TMEM126A, YME1L1
Associated tissues -
Disease features -
Remarks -


Individuals

620 entries on 7 pages. Showing entries 1 - 100.
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00036419 - - - - - Germany - - 0 - - OPA langsam progressive Optikusatrophiesince the 20 year of life, father and grand-father also affected OPA1 OPA1 1 1 Andreas Laner
00036427 - - - - - Germany - - 0 - - OPA Optikusatrophie bilateral; since age of ten years ""weak"" eyes OPA1 OPA1 1 1 Andreas Laner
00036428 - - - - - Germany - - 0 - - OPA optic atrophy, autosomal dominant OPA1 OPA1 1 1 Andreas Laner
00036429 - - - - - Germany - - 0 - - OPA Optikusatrophie, suspected hereditery cause OPA1 OPA1 1 1 Andreas Laner
00036430 - - - - - Germany - - 0 - - OPA suspected autosomal-dominante Optikusatrophie, 4 generations (m/w) affected, Index affected preschool age OPA1 OPA1 1 1 Andreas Laner
00036432 - - - - - Germany - - 0 - - OPA suspected hereditary Optikusatrophie, Visusminderung bilateral OPA1 OPA1 1 1 Andreas Laner
00036433 - - - - - Germany - - 0 - - OPA familial optic atrophy OPA1 OPA1 1 1 Andreas Laner
00036437 - - - - - Germany - - 0 - - OPA Optikusatrophie;father also affected OPA1 OPA1 1 1 Andreas Laner
00036440 - - - - - Germany - - 0 - - OPA suspected autosomal-dominante Optikusatrophie OPA1 OPA1 1 1 Andreas Laner
00036441 - - - - - Germany - - 0 - - OPA Optikusatrophie bilateral, Myopie, scotoma bilateral, Neuritis nervi optici bilateral 2006, Meningitis purulenta (1991), Meningitis/Enzephalitis (1995), Asthma bronchiale, suspected myopathy (1998), focal epilepsy (1998), defect of coagulation factor. OPA3 OPA3 1 1 Andreas Laner
00037406 - - - - - Germany - - 0 - - OPA Optikusatrophie bilateral, inner ear hearing loss bilateral WFS1 WFS1 1 1 Andreas Laner
00037407 - - - - - Germany - - 0 - - OPA suspected hereditary Optikusatrophie, family history positive WFS1 WFS1 1 1 Andreas Laner
00043809 - PubMed: Bosch 2014, Journal: Bosch 2014 father, unaffecter heterozygous carrier sister and son M no - - >68y 0 - - OPA optic atrophy NR2F1 NR2F1 1 1 Johan den Dunnen
00072359 - - 1 family 2 affected - - - - - 0 - - OPA Ataxia, Myopathy SDHA SDHA 1 1 Tonino Ercolino
00080840 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Daniel Trujillano
00088081 - - Analysis of LOHN and OPA1 with negative result M ? Germany - - 0 - - OPA Optic atrophy, nonsyndromic TMEM126A TMEM126A 3 1 Andreas Laner
00103965 113952 - - F ? Germany - - 0 - - OPA found in combination with truncating variant in OPA1 which explains phenotype (optic atrophy) in this patient, optic atrophy (according to referring physician no signs of a neuropathy, optic atrophy only phenotype) MFN2, OPA1 MFN2, OPA1 2 1 Andreas Laner
00105424 - PubMed: Alexander 2000 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105425 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105426 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105427 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105428 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105429 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105430 - PubMed: Delettre 2001 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105431 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105432 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105433 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105434 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105435 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105436 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105437 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105438 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105439 - PubMed: Delettre 2000 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105440 - PubMed: Baris 2003 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105441 - PubMed: Delettre 2000 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105442 - PubMed: Delettre 2000 - - - France - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105443 - PubMed: Alexander 2000 - - - Cuba - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105444 - PubMed: Alexander 2000 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105445 - PubMed: Alexander 2000 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105446 - PubMed: Alexander 2000 - - - Germany - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105447 - PubMed: Alexander 2000 - - - Germany - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105448 - PubMed: Alexander 2000 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105449 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105450 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105451 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105452 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105453 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105454 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105455 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105456 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105457 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105458 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105459 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105460 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105461 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105462 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105463 - PubMed: Delettre 2000 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105496 - PubMed: Thiselton 2002 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105497 - PubMed: Thiselton 2002 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105498 - PubMed: Thiselton 2002 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105499 - PubMed: Thiselton 2002 - - - Belgium - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105500 - PubMed: Thiselton 2002 - - - Brazil - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105501 - PubMed: Thiselton 2002 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105502 - PubMed: Thiselton 2002 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105503 - PubMed: Thiselton 2002 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 2 1 Marc Ferre
00105504 - PubMed: Thiselton 2002 - - - Denmark - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105505 - PubMed: Thiselton 2002 - - - Denmark - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105506 - PubMed: Thiselton 2002 - - - Sweden - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105507 - PubMed: Thiselton 2002 - - - United Kingdom (Great Britain) - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105508 - PubMed: Thiselton 2002 - - - Denmark - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105509 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105510 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105511 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy; this patient most severely affected family member OPA1 OPA1 2 1 Marc Ferre
00105512 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105513 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105514 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105515 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105516 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105517 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105518 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105519 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105520 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105521 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105522 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105523 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105524 - PubMed: Pesch 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105525 - PubMed: Shimizu 2002 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105526 - PubMed: Shimizu 2002 - - - Japan - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105527 - PubMed: Delettre 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105528 - PubMed: Delettre 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105529 - PubMed: Delettre 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105530 - PubMed: Delettre 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105531 - PubMed: Delettre 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105532 - PubMed: Delettre 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105533 - PubMed: Delettre 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105534 - PubMed: Yamada 2003 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105537 - PubMed: Toomes 2001 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105538 - PubMed: Han 2006 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105539 - PubMed: Hayashi 2005 - - - - - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
00105540 - PubMed: Puomila 2005 - - - Finland - - 0 - - OPA autosomal dominant optic atrophy OPA1 OPA1 1 1 Marc Ferre
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