Disease #01477 (OPA-1 (atrophy, optic, type 1 (OPA-1)), OMIM:165500)

Official abbreviation OPA-1
Name atrophy, optic, type 1 (OPA-1)
OMIM ID 165500
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 35
Phenotype entries for this disease 28
Associated with 1 gene OPA1
Associated tissues -
Disease features autosomal dominant
Remarks -


Individuals

35 entries on 1 page. Showing entries 1 - 35.
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00230995 - PubMed: Zerem 2019 - F no - - - 0 - - OPA, OPA+, OPA-1 Stroke (HP:0001297); Optic atrophy (HP:0000648); Progressive gait ataxia (HP:0007240); Dysarthria (HP:0001260); Tremor (HP:0001337); Specific learning disability (HP:0001328) - OPA1 2 1 Marc Ferre
00230996 - - - M - (France) - - 0 - - OPA, OPA-1 - - OPA1 1 1 Marc Ferre
00238975 - - - - - (France) - - 0 - - OPA, OPA-1 - - OPA1 1 1 Marc Ferre
00240094 - - - M no (France) - - 0 - - OPA, OPA-1 Moderate optic atrophy appeared in childhood, father suffering the same way. No other neurological signs mentioned. - OPA1 1 1 Marc Ferre
00240354 - - - M - (United Arab Emirates) - - 0 - - OPA, OPA-1 - OPA1 OPA1 1 1 Marc Ferre
00240359 - - - F - (France) - - 0 - - OPA, OPA-1 Chronic decreased visual acuity. No other signs. - OPA1 1 1 Marc Ferre
00240360 - - - F - (France) - - 0 - - OPA, OPA-1 - - OPA1 1 1 Marc Ferre
00265520 - - - F - - - - 0 - - OPA, OPA-1 Normal hearing (-HP:0000364); No peripheral neuropathy (-HP:0009830); No ophthalmoplegia (-HP:0000602); No Ataxia (-HP:0001251) OPA1 OPA1 1 1 Marc Ferre
00266378 - - - M no (France) - - 0 - - OPA, OPA-1 Optic atrophy (HP:0000648); Delayed speech and language development (HP:0000750); Microcephaly (HP:0000252); - OPA1 1 1 Marc Ferre
00269319 - - - F - (France) - - 0 - - OPA, OPA-1 - - OPA1 1 1 Marc Ferre
00299426 - - - F no (France) - - 0 - - OPA, OPA-1 - OPA1 OPA1 1 1 Marc Ferre
00299427 - - - M - (France) - - 0 - - OPA, OPA-1 Autosomal Dominant Optic Atrophy, Classic Form (ORPHA:98673). Optic atrophy in brother, mother and maternal grandfather; evocative visual field and fundus. OPA1 OPA1 1 1 Marc Ferre
00299428 - - - M ? (France) - - 0 - - OPA, OPA-1 Autosomal Dominant Optic Atrophy, Classic Form (ORPHA:98673) OPA1 OPA1 1 1 Marc Ferre
00299429 - - - F ? (France) - - 0 - - OPA, OPA-1 Autosomal Dominant Optic Atrophy, Classic Form (ORPHA:98673); Type II diabetes mellitus (HP:0005978); Peripheral neuropathy (HP:0009830). Optical atrophy in mother and paternal grandfather. OPA1 OPA1 1 1 Marc Ferre
00301050 - - - M - (France) - - 0 - - OPA, OPA-1 - OPA1 OPA1 1 1 Marc Ferre
00301051 - - - F - (France) - - 0 - - OPA, OPA-1 - OPA1 OPA1 1 1 Marc Ferre
00317982 171284 - - M ? Germany - - 0 - - OPA-1 Optic atrophy, positive family history, suspicion of AD inheritance OPA1 OPA1 1 1 Andreas Laner
00359493 - - - - ? China Asian - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359503 - - - M - China Asian - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359504 - - - M - China Asian - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359528 - - - F - China Asian - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359530 - - - F - China - - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359531 - - - F - China Asian - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359532 - - - F - China - - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359533 - - - M - China - - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359534 - - - M - China - - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359535 - - - M - China Asian - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359536 - - - M - China Asian - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359537 - - - M - China Asian - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359538 - - - M - China - - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359540 - - - M - China Asian - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359543 - - - M - China Asian - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359544 - - - F - China Asian - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359571 - - - F - China Asian - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
00359572 - - - M - China - - - - - OPA-1 - OPA1 OPA1 1 1 Xingyu Xu
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