Phenotypes for disease #01985 (GACR;OATD (atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))), OMIM:258870)

143 entries on 2 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000046272 - - - Isolated (sporadic) - - - - - Eva Trevisson 00059780
0000046273 - - - Familial, autosomal recessive - - - - - Eva Trevisson 00059781
0000046274 - - - Familial, autosomal recessive - - - - - Eva Trevisson 00059782
0000046275 - - - Familial, autosomal recessive - - - - - Eva Trevisson 00059783
0000046276 - - - Familial, autosomal recessive - - - - - Eva Trevisson 00059784
0000046277 - - - Familial, autosomal recessive - - - - - Eva Trevisson 00059785
0000046278 - - - Familial, autosomal recessive - - - - - Eva Trevisson 00059786
0000046290 - - - Familial, autosomal recessive - - - - - Anne Polvi 00059798
0000046291 - - - Familial, autosomal recessive - - - - - Anne Polvi 00059799
0000046292 - - - Familial, autosomal recessive - - - - - Anne Polvi 00059800
0000046293 - - - Unknown - - - - - Anne Polvi 00059801
0000046294 - - - Unknown - - - - - Anne Polvi 00059802
0000046295 - - - Unknown - - - - - Anne Polvi 00059803
0000046296 - - - Unknown - - - - - Anne Polvi 00059804
0000046297 - - - Unknown - - - - - Anne Polvi 00059805
0000046298 - - - Unknown - - - - - Anne Polvi 00059806
0000046299 - - - Unknown - - - - - Anne Polvi 00059807
0000046300 - - - Unknown - - - - - Anne Polvi 00059808
0000046301 - - - Unknown - - - - - Anne Polvi 00059809
0000046302 - - - Unknown - - - - - Anne Polvi 00059810
0000046303 - - - Unknown - - - - - Anne Polvi 00059811
0000046304 - - - Unknown - - - - - Anne Polvi 00059812
0000046305 - - - Unknown - - - - - Anne Polvi 00059813
0000046306 - - - Unknown - - - - - Anne Polvi 00059814
0000046307 - - - Unknown - - - - - Anne Polvi 00059815
0000046308 - - - Unknown - - - - - Anne Polvi 00059816
0000046309 - - - Unknown - - - - - Anne Polvi 00059817
0000046310 - - - Unknown - - - - - Anne Polvi 00059818
0000046311 - - - Unknown - - - - - Anne Polvi 00059819
0000046312 - - - Unknown - - - - - Anne Polvi 00059820
0000046313 - - - Unknown - - - - - Anne Polvi 00059821
0000046314 - - - Unknown - - - - - Anne Polvi 00059822
0000046315 - - - Unknown - - - - - Anne Polvi 00059823
0000046316 - - - Unknown - - - - - Anne Polvi 00059824
0000046317 - - - Unknown - - - - - Anne Polvi 00059825
0000046318 - - - Unknown - - - - - Anne Polvi 00059826
0000046319 - - - Unknown - - - - - Anne Polvi 00059827
0000046320 - - - Unknown - - - - - Anne Polvi 00059828
0000046321 - - - Unknown - - - - - Anne Polvi 00059829
0000046322 - - - Unknown - - - - - Anne Polvi 00059830
0000046323 - - - Unknown - - - - - Anne Polvi 00059831
0000046324 - - - Unknown - - - - - Anne Polvi 00059832
0000046325 - - - Unknown - - - - - Anne Polvi 00059833
0000046326 - - - Unknown - - - - - Anne Polvi 00059834
0000046587 - - - Familial, autosomal recessive - - - - - Eva Trevisson 00060097
0000046588 - - - Familial, autosomal recessive - - - - - Eva Trevisson 00060098
0000046589 - - - Familial, autosomal recessive - - - - - Eva Trevisson 00060099
0000046590 - - - Familial, autosomal recessive - - - - - Eva Trevisson 00060100
0000046608 - - - Unknown - - - - - Anne Polvi 00060118
0000046611 - - - Unknown - - - - - Anne Polvi 00060121
0000046612 - - - Unknown - - - - - Anne Polvi 00060122
0000046613 - - - Unknown - - - - - Anne Polvi 00060123
0000046614 - - - Unknown - - - - - Anne Polvi 00060124
0000046615 - - - Unknown - - - - - Anne Polvi 00060125
0000046616 - - - Unknown - - - - - Anne Polvi 00060126
0000046617 - - - Unknown - - - - - Anne Polvi 00060127
0000046618 - - - Unknown - - - - - Anne Polvi 00060128
0000046619 - - - Unknown - - - - - Anne Polvi 00060129
0000046620 - - - Unknown - - - - - Anne Polvi 00060130
0000046621 - - - Unknown - - - - - Anne Polvi 00060131
0000046622 - - - Unknown - - - - - Anne Polvi 00060132
0000046623 - - - Unknown - - - - - Anne Polvi 00060133
0000046624 - - - Unknown - - - - - Anne Polvi 00060134
0000046625 - - - Unknown - - - - - Anne Polvi 00060135
0000046626 - - - Unknown - - - - - Anne Polvi 00060136
0000046627 - - - Unknown - - - - - Anne Polvi 00060137
0000046628 - - - Unknown - - - - - Anne Polvi 00060138
0000046629 - - - Unknown - - - - - Anne Polvi 00060139
0000046630 - - - Unknown - - - - - Anne Polvi 00060140
0000046631 - - - Unknown - - - - - Anne Polvi 00060141
0000046632 - - - Familial, autosomal recessive - - - - - Anne Polvi 00060142
0000046633 - - - Unknown - - - - - Anne Polvi 00060143
0000046634 - - - Unknown - - - - - Anne Polvi 00060144
0000046635 - - - Unknown - - - - - Anne Polvi 00060145
0000046636 - - - Unknown - - - - - Anne Polvi 00060146
0000046637 - - - Unknown - - - - - Anne Polvi 00060147
0000046638 - - - Unknown - - - - - Anne Polvi 00060148
0000046639 - - - Unknown - - - - - Anne Polvi 00060149
0000046640 - - - Unknown - - - - - Anne Polvi 00060150
0000046641 - - - Unknown - - - - - Anne Polvi 00060151
0000046642 - - - Unknown - - - - - Anne Polvi 00060152
0000046643 - - - Unknown - - - - - Anne Polvi 00060153
0000046644 - - - Unknown - - - - - Anne Polvi 00060154
0000046645 - - - Unknown - - - - - Anne Polvi 00060155
0000046646 - - - Unknown - - - - - Anne Polvi 00060156
0000309018 whole cohort description: typical gyrate atrophy clinical presentation; plasma ornithine values on a normal diet were 745-876 umol/liter (normal, 75-25 umol/liter); fibroblast OAT activity undetectable (<1% of normal) by a radioisotopic assa - atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Familial, autosomal recessive - - - - - LOVD 00417538
0000309019 whole cohort description: typical gyrate atrophy clinical presentation; plasma ornithine values on a normal diet were 745-876 umol/liter (normal, 75-25 umol/liter); fibroblast OAT activity undetectable (<1% of normal) by a radioisotopic assa - atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Familial, autosomal recessive - - - - - LOVD 00417539
0000309020 whole cohort description: typical gyrate atrophy clinical presentation; plasma ornithine values on a normal diet were 745-876 umol/liter (normal, 75-25 umol/liter); fibroblast OAT activity undetectable (<1% of normal) by a radioisotopic assa - atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Familial, autosomal recessive - - - - - LOVD 00417540
0000309021 whole cohort description: typical gyrate atrophy clinical presentation; plasma ornithine values on a normal diet were 745-876 umol/liter (normal, 75-25 umol/liter); fibroblast OAT activity undetectable (<1% of normal) by a radioisotopic assa - atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Familial, autosomal recessive - - - - - LOVD 00417541
0000309022 40y: visual acuity right, left eye: 20/40, 20/200; mild to moderate cataracts and maculopathy, both worse in the left eye; visual fields constricted to approximately 70deg of remaining field, measured horizontally; severity of disease was mild to moderate clinically; classified as a B6 nonresponder both by failure of serum ornithine levels to decrease after oral pyridoxine supplementation and by failure of pyridoxal phosphate to increase ornithine anminotransferase activity in vitro; clinical characteristics of the patient have been described in detail elsewhere (patient 4 of Weleber et al. [1982] and Weleber and Kennaway [1988]) - atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Familial, autosomal recessive 40y - - - - LOVD 00417542
0000309049 - - atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Familial, autosomal recessive - - - - - LOVD 00417570
0000309054 pyridoxine HCI mg/day 0; serum omithine mg/day: 0.64 +/- 0.17; pyridoxine HCI mg/day 750; serum omithine mg/day: 0.34 +/- 0.10; OAT activity (nmol/mg protein/h): 14 +/- 5; skin fibroblasts incorporation of radioactivity from 3H-ornithine into protein (DPM/ug protein): no pyridoxine in medium: 54 +/- 20; 1.0mg/l pyridoxine in medium: 233 +/- 62; skin fibroblasts Km pyridoxal phosphate: 0.15; skin fibroblasts estimated OAT mRNA level (%): 100 - atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Familial, autosomal recessive - - - - - LOVD 00417583
0000309055 pyridoxine HCI mg/day 0; serum omithine mg/day: 0.57 +/- 0.02; pyridoxine HCI mg/day 600-750; serum omithine mg/day: 0.25 +/- 0.01; OAT activity (nmol/mg protein/h): 18+/- 4; skin fibroblasts incorporation of radioactivity from 3H-ornithine into protein (DPM/ug protein): no pyridoxine in medium: 31 +/- 11; 1.0mg/l pyridoxine in medium: 268 +/- 34; skin fibroblasts Km pyridoxal phosphate: 0.13; skin fibroblasts estimated OAT mRNA level (%): 100 - atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Familial, autosomal recessive - - - - - LOVD 00417584
0000309056 pyridoxine HCI mg/day 0; serum omithine mg/day: 0.77 +/- 0.08; pyridoxine HCI mg/day 600-750; serum omithine mg/day: 0.34 +/- 0.07; OAT activity (nmol/mg protein/h): 21 +/- 8; skin fibroblasts incorporation of radioactivity from 3H-ornithine into protein (DPM/ug protein): no pyridoxine in medium: 74+/- 29; 1.0mg/l pyridoxine in medium: 237 +/- 33; skin fibroblasts Km pyridoxal phosphate: 0.08; skin fibroblasts estimated OAT mRNA level (%): 50 - atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Familial, autosomal recessive - - - - - LOVD 00417585
0000309057 pyridoxine HCI mg/day 0; serum omithine mg/day: 0.53 +/- 0.08; not available for the clinical trial of pyridoxine supplementation; OAT activity (nmol/mg protein/h): 48 +/- 12; skin fibroblasts incorporation of radioactivity from 3H-ornithine into protein (DPM/ug protein): no pyridoxine in medium: 76 +/- 9; 1.0mg/l pyridoxine in medium: 482 +/- 91; skin fibroblasts Km pyridoxal phosphate: 0.31; skin fibroblasts estimated OAT mRNA level (%): 100 - atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Familial, autosomal recessive - - - - - LOVD 00417586
0000309058 age when first spectacles were ordered: y; plasma ornithine concentration (um): 1696; best corrected visual acuity right/left eye: 0.8 / 0.8; refraction right / left eye: 0 / 0; fundus findings right / left eye: papilla: normal / normal; macula: normal / normal; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: peripheral atrophy / peripheral atrophy - atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Familial, autosomal recessive 5y 1m - myopia - LOVD 00417588
0000309059 age when first spectacles were ordered: 4y; plasma ornithine concentration (um): 871; best corrected visual acuity right/left eye: / ; refraction right / left eye: -2.5 / -2.5; fundus findings right / left eye: papilla: normal / normal; macula: normal / normal; vessels: normal / normal; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: peripheral atrophy / peripheral atrophy - atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Familial, autosomal recessive 5y 4y - myopia, night blindness - LOVD 00417589
0000309060 age when first spectacles were ordered: 3y; plasma ornithine concentration (um): 183; best corrected visual acuity right/left eye: 0.4 / 0.6; refraction right / left eye: -4 / -5; fundus findings right / left eye: papilla: severely pathologic / severely pathologic; macula: pathologic / pathologic; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / peripheral atrophy - atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Familial, autosomal recessive 6y 4y - night blindness - LOVD 00417590
0000309061 age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 2601; best corrected visual acuity right/left eye: / ; refraction right / left eye: -3.5 / -3.5; fundus findings right / left eye: papilla: normal / normal; macula: normal / normal; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / midperipheral atrophy - atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Familial, autosomal recessive 6y 5y - no symptoms - LOVD 00417591
0000309062 age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 678; best corrected visual acuity right/left eye: 0.4 / 0.15; refraction right / left eye: -2.75 / -2.5; fundus findings right / left eye: papilla: normal / normal; macula: severely pathologic / severely pathologic; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / peripheral atrophy - atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD)) Familial, autosomal recessive 7y 7y - myopia, night blindness - LOVD 00417592
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