Phenotypes for disease #01477 (OPA1 (atrophy, optic, type 1 (OPA-1)), OMIM:165500)

42 entries on 1 page. Showing entries 1 - 42.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Vision/Acuity     

Vision/Colour     

Birth_Details     

Vision/Field     

Eye/Optic_Disc     

Eye/OCT     

Brain/Imaging     

MotorSkills     

Vision/Abnormality     

Vision/Other     

Hearing/Loss     

Protein     

Habits     

Histology     

Owner     

Individual ID     
0000173478 Stroke (HP:0001297); Optic atrophy (HP:0000648); Progressive gait ataxia (HP:0007240); Dysarthria (HP:0001260); Tremor (HP:0001337); Specific learning disability (HP:0001328) - - Familial 12y - 00y18m - - - - - - - - - - - - - - - Marc Ferre 00230995
0000173479 - - - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - Marc Ferre 00230996
0000180249 Moderate optic atrophy appeared in childhood, father suffering the same way. No other neurological signs mentioned. - - Familial, autosomal dominant - 44y - - OD 0.4 LogMAR;OS 0.4 LogMAR - - - - - - - - - - - - - Marc Ferre 00240094
0000180430 - - - Unknown - 40y - - - - - - - - - - - - - - - - Marc Ferre 00240354
0000180431 Chronic decreased visual acuity. No other signs. - - Unknown 54y - - - OD abnormal;OS abnormal - - - - - - - - - - - - - Marc Ferre 00240359
0000180432 - - - Unknown 38y - - - OD abnormal;OS abnormal - - - - - - - - - - - - - Marc Ferre 00240360
0000203308 Normal hearing (-HP:0000364); No peripheral neuropathy (-HP:0009830); No ophthalmoplegia (-HP:0000602); No Ataxia (-HP:0001251) - - Unknown 33y 29y 29y - OD 0.4 LogMAR;OS 0.1 LogMAR - - - - - - - - - normal - - - Marc Ferre 00265520
0000204147 Optic atrophy (HP:0000648); Delayed speech and language development (HP:0000750); Microcephaly (HP:0000252); - - Familial, autosomal dominant 12y - - - OD 0.8 LogMAR;OS 0.8 LogMAR - - - - - - - - - - - - - Marc Ferre 00266378
0000207150 - - - Familial, autosomal dominant 68y - - - - - - - - - - - - - - - - - Marc Ferre 00269319
0000241766 Optic atrophy, positive family history, suspicion of AD inheritance - - Unknown - - - - - - - - - - - - - - - - - - Andreas Laner 00317982
0000254743 - Optic atrophy Autosomal dominant optic atrophy Familial, autosomal dominant 10y 10y - Autosomal dominant optic atrophy OD 0.3 LogMAR ? - - - OS RNFL two or more ? - acuity reduced - ? - ? - Xingyu Xu 00359493
0000254747 - - - Unknown 07y 07y - - OD 0.5 LogMAR ? - - - - - - - - ? - - - Xingyu Xu 00359503
0000254748 - - - Unknown 07y 07y - - OD 0.3 LogMAR - - - - - - - - - - - - - Xingyu Xu 00359504
0000254781 - - - Familial, autosomal dominant 09y 09y - - OD 0.2 LogMAR ? - - - OS RNFL two or more - - - - - - - - Xingyu Xu 00359528
0000254783 - - - Isolated (sporadic) 09y 09y - - OD 0.2 LogMAR - - pericentral - OS RNFL two or more normal - - - - - - - Xingyu Xu 00359530
0000254784 - - - Familial, autosomal dominant 05y 05y - - OS 0.1 LogMAR - - pericentral - OS RNFL two or more - - - - - - - - Xingyu Xu 00359531
0000254785 - - - Familial, autosomal dominant 06y 06y - - OS 0.1 LogMAR - - - - - - - - - - - - - Xingyu Xu 00359532
0000254786 - - - Familial, autosomal dominant - - - - OS 0.6 LogMAR - - - - - - - - - - - - - Xingyu Xu 00359533
0000254787 - - - Familial, autosomal dominant 05y 05y - - - - - - - - - - - - - - - - Xingyu Xu 00359534
0000254788 - - - Isolated (sporadic) 02y 02y - - - - - - - - - - - - - - - - Xingyu Xu 00359535
0000254789 - Optic atrophy - Unknown 27y 27y - - OS 0.2 LogMAR - - - - - - - - - - - - - Xingyu Xu 00359536
0000254790 - - - Unknown 13y 13y - Optic atrophy OS 0.6 LogMAR - - - - OS RNFL two or more normal - - - - - - - Xingyu Xu 00359537
0000254791 - - - Isolated (sporadic) 06y 06y - Optic atrophy OS 0.3 LogMAR - - - - OS RNFL two or more - - - - - - - - Xingyu Xu 00359538
0000254793 - Optic atrophy - Familial, autosomal dominant 06y 06y - Autosomal dominant optic atrophy OS 0.1 LogMAR - - - - OS RNFL two or more - - - - - - - - Xingyu Xu 00359540
0000254794 - Optic atrophy Autosomal dominant optic atrophy Familial, autosomal dominant 21y 21y - - OS 0.1 LogMAR - - - - OS RNFL two or more normal - acuity reduced - - - - - Xingyu Xu 00359543
0000254795 - Optic atrophy Autosomal dominant optic atrophy Familial, autosomal dominant 04y 04y - - OD ? - - - - OS RNFL two or more normal - - - - - - - Xingyu Xu 00359544
0000254824 - Optic atrophy - Familial, autosomal dominant 12y - - - OS 0.4 LogMAR - - - - OS RNFL two or more - - - - - - - - Xingyu Xu 00359571
0000254825 - Optic atrophy - Unknown 19y 19y - - OS 0.1 LogMAR - - - - OS RNFL two or more - - - - - - - - Xingyu Xu 00359572
0000278015 - optical atrophy - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - LOVD 00384230
0000278028 - retinal disease - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - LOVD 00384243
0000278029 - Optic papillary dysplasia - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - LOVD 00384244
0000278047 - optical atrophy - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - LOVD 00384262
0000278051 - optical atrophy? - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - LOVD 00384266
0000278058 - optical atrophy - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - LOVD 00384273
0000278064 - optical atrophy - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - LOVD 00384279
0000278074 - optical atrophy - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - LOVD 00384289
0000278111 - Low vision - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - LOVD 00384326
0000278152 - optical atrophy - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - LOVD 00384367
0000278153 - Low vision - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - LOVD 00384368
0000278226 - optical atrophy - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - LOVD 00384441
0000278227 - optical atrophy - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - LOVD 00384442
0000278243 - optical atrophy+retinal detachment - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - LOVD 00384458
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