Disease #02274 (LHON (Leber hereditary optic neuropathy), OMIM:535000)

Official abbreviation LHON
Name Leber hereditary optic neuropathy
OMIM ID 535000
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive, Mitochondrial
Individuals reported having this disease 78
Phenotype entries for this disease 63
Associated with 2 genes DNAJC30, MT-ND1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2022-09-29 11:06:24 +02:00 (CEST)


Individuals

78 entries on 1 page. Showing entries 1 - 78.
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00305360 Fam1 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305361 Fam2 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305362 Fam3 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 2 Johan den Dunnen
00305363 Fam4 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305364 Fam5 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305365 Fam6 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305366 Fam7 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305367 Fam8 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, 3 unaffected homozygous females, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305368 Fam9 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 2 1 Johan den Dunnen
00305369 Fam10 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305370 Fam11 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, 1 unaffected homozygous male, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305371 Fam12 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305372 Fam13 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305373 Fam14 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305374 Fam15 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - - - - - - - LHON - DNAJC30 DNAJC30 1 2 Johan den Dunnen
00305375 Fam16 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305376 Fam17 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 - - 1 Johan den Dunnen
00305377 Fam18 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 2 Johan den Dunnen
00305378 Fam19 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305379 Fam20 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, affected brothers, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 2 Johan den Dunnen
00305380 Fam21 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305381 Fam22 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305382 Fam23 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305383 Fam24 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305384 Fam25 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305385 Fam26 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305386 Fam27 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305387 Fam28 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00305388 Fam29 Stenton ESHG2020 C25.5, PubMed: Stenton 2021 2-generation family, 1 affected, 1 unaffected homozygous female, unaffected heterozygous carrier parents M - - - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00359598 - - - M no Morocco - - - - - LHON acute painless vision loss MT-ND5 MT-ND5 1 1 Daniele Ghezzi
00359599 - - - M no Italy - - - - - LHON Optic neuropathy HP:0001138 MT-ND5 MT-ND5 1 1 Daniele Ghezzi
00359600 - - - M no Italy - - - - - LHON Optic neuropathy HP:0001138 MT-ND1 MT-ND1 1 1 Daniele Ghezzi
00359601 - - - M ? Italy - - - - - LHON Optic neuropathy HP:0001138 Visual loss HP:0000572 MT-ND6 - 1 1 Daniele Ghezzi
00359602 - - - M no Italy - - - - - LHON Optic neuropathy HP:0001138 Visual loss HP:0000572 - MT-ND3 1 1 Daniele Ghezzi
00418409 LHON 59 (1316) PubMed: Kieninger 2022 2-generation family, 2 affected brothers M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 2 Johan den Dunnen
00418410 LHON 59 (1824) PubMed: Kieninger 2022 brother of LHON 59 (1316) M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418411 LHON 84 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418412 LHON 96 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 2 1 Johan den Dunnen
00418413 LHON 210 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418414 LHON 238 PubMed: Kieninger 2022 - F - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418415 LHON 246 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418416 LHON 286 PubMed: Kieninger 2022 - F - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418417 LHON 347 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418418 LHON 377 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418419 LHON 380 PubMed: Kieninger 2022 - M - Germany Arab - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418420 LHON 466 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418421 LHON 507 PubMed: Kieninger 2022 - F - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418422 LHON 526 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418423 LHON 573 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 2 1 Johan den Dunnen
00418424 LHON 582 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418425 LHON 600 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418426 LHON 606 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418427 LHON 612 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418428 LHON 749 (12040) PubMed: Kieninger 2022 2-generation family, 2 affected twin brothers M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 2 Johan den Dunnen
00418429 LHON 749 (14508) PubMed: Kieninger 2022 twin of LHON 749 (12040) M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418430 LHON 760 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418431 LHON 785 PubMed: Kieninger 2022 - F - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418432 LHON 895 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418433 LHON 1076 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418434 LHON 1088 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418435 LHON 1089 PubMed: Kieninger 2022 - F - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418436 LHON 1129 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418437 LHON 1149 PubMed: Kieninger 2022 - M - Germany - - - - - LHON - DNAJC30 DNAJC30 2 1 Johan den Dunnen
00418444 - PubMed: Kieninger 2022 - - - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418445 - PubMed: Kieninger 2022 - - - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418446 - PubMed: Kieninger 2022 - - - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418447 - PubMed: Kieninger 2022 - - - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418448 - PubMed: Kieninger 2022 - - - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418449 - PubMed: Kieninger 2022 - - - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418450 - PubMed: Kieninger 2022 - - - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418451 - PubMed: Kieninger 2022 - - - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418452 - PubMed: Kieninger 2022 - - - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418453 - PubMed: Kieninger 2022 - - - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418454 - PubMed: Kieninger 2022 - - - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418455 - PubMed: Kieninger 2022 - - - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418456 - PubMed: Kieninger 2022 - - - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418457 - PubMed: Kieninger 2022 - - - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
00418458 - PubMed: Kieninger 2022 - - - Germany - - - - - LHON - DNAJC30 DNAJC30 1 1 Johan den Dunnen
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