All individuals with variants in gene PRPS1

58 entries on 1 page. Showing entries 1 - 58.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00151970 - PubMed: Kim 2007 - - - - - - - - - CMT - 1 1 Johan den Dunnen
00151971 - PubMed: Becker 1995 - - - - - - - - - superactivity, phosphoribosylpyrophosphate synthetase - 1 1 Johan den Dunnen
00151972 - PubMed: Liu 2010 - - - - - - - - - deafness - 1 1 Johan den Dunnen
00151973 - PubMed: Liu 2010 - - - - - - - - - deafness - 1 1 Johan den Dunnen
00151974 - PubMed: Robusto 2015 3-generation family with two affected male siblings and 2 obligate female carriers. M no Italy - - - - - deafness post-lingual, bilateral, progressive deafness, normal speech development, received bilateral cochlear implants 1 1 Giulia Soldà
00151975 - PubMed: Robusto 2015 3-generation family with 4 affected males and 3 obligate carrier females. The carrier females show a milder phenotype. M no Italy - - - - - deafness post-lingual progressive bilateral hearing impairment, characterized by down-sloping audiometric profile, with moderate HL at low and middle frequencie, severe hearing impairment at higher frequencies; neurological evaluation displayed sign and symptoms of peripheral neuropathy, with both sensory and motor deficits 1 1 Giulia Soldà
00151976 - PubMed: Roessler 1991 - - - - - - - - - superactivity, phosphoribosylpyrophosphate synthetase - 1 1 Johan den Dunnen
00151977 - PubMed: Kim 2007 - - - - - - - - - CMT - 1 1 Johan den Dunnen
00151978 - PubMed: Becker 1995 - - - - - - - - - superactivity, phosphoribosylpyrophosphate synthetase - 1 1 Johan den Dunnen
00151979 - PubMed: de Brouwer 2007 - - - - - - - - - superactivity, phosphoribosylpyrophosphate synthetase - 1 1 Johan den Dunnen
00151980 - PubMed: de Brouwer 2007 - - - - - - - - - superactivity, phosphoribosylpyrophosphate synthetase - 1 1 Johan den Dunnen
00151981 - PubMed: Roessler 1991 - - - - - - - - - superactivity, phosphoribosylpyrophosphate synthetase - 1 1 Johan den Dunnen
00151982 - PubMed: Becker 1995 - - - - - - - - - superactivity, phosphoribosylpyrophosphate synthetase - 1 1 Johan den Dunnen
00151983 - PubMed: Garcia-Pavia 2003 - - - - - - - - - superactivity, phosphoribosylpyrophosphate synthetase - 1 1 Johan den Dunnen
00151984 - PubMed: Becker 1995 - - - - - - - - - superactivity, phosphoribosylpyrophosphate synthetase - 1 1 Johan den Dunnen
00151985 - PubMed: Robusto 2015 3-generation family with two affected males and 2 obligate female carriers (DNA of 1st generation not available). The carrier females show a milder phenotype. M no Peru - - - - - deafness post-lingual progressive bilateral hearing impairment, characterized by down-sloping audiometric profile, with moderate HL at low and middle frequencies and a severe hearing impairment at higher frequencies; neurological evaluation displayed sign and symptoms of mildly symptomatic peripheral neuropathy, with prevalent sensory involvement (i.e. Romberg positivity, absent deep tendon reflexes; showed chronic denervation at EMG evaluation, and mild axonal neuropathy affecting only motor nerves 1 1 Giulia Soldà
00151986 - PubMed: Liu 2010 - - - - - - - - - deafness - 1 1 Johan den Dunnen
00151987 - PubMed: Liu 2010 - - - - - - - - - deafness - 1 1 Johan den Dunnen
00172476 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172477 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00207340 - - - M no France - 35y - - - CMTX5 sensori-motor neuropathy since the age of 8 profound bilateral hearing loss bilateral optic neuropathy 1 1 Justine Lerat
00266239 - Mercati et al 2019 submitted - M - - - - - - - CMTX5 - 1 1 Laurence Jonard
00266240 - Mercati et al 2019 submitted - M no Turkey - - - - - CMTX5 hearing loss, epilepsy, peripheral neuropathy, severe IUGR 1 1 Laurence Jonard
00266241 - Mercati et al 2019 submitted - M - - - - - - - DFNX1 - 1 1 Laurence Jonard
00285730 - PubMed: Almoguera 2014 - - - - - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00285731 - PubMed: Kim 1993, PubMed: Bird 1993, PubMed: Kim 2007 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285732 - PubMed: Zoref 1975, PubMed: Becker 1995, PubMed: de Brouwer 1993, PubMed: Chen 2013 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285733 - PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Liu 1993 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285734 - PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Tyson 1996, PubMed: Liu 1993 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285735 - PubMed: de Brouwer 1993 - - - - - - - - - ARTS;MRXS18 - 1 1 Global Variome, with Curator vacancy
00285736 - PubMed: Shearer 1993, PubMed: Robusto 2015, PubMed: Liu 1993 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00285737 - PubMed: Roessler 1993, PubMed: Becker 1995, PubMed: de Brouwer 1993, PubMed: Becker 1986, PubMed: Roessler 1991 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285738 - PubMed: Shearer 1993, PubMed: Robusto 2015, PubMed: Bird 1993, PubMed: Kim 1993, PubMed: Liu 1993 - - - - - - - - - HL peripheral neuropathy 1 1 Global Variome, with Curator vacancy
00285739 - PubMed: Kim 1993, PubMed: Bird 1993, PubMed: Kim 2007 - - - - - - - - - CMT - 1 1 Global Variome, with Curator vacancy
00285740 - PubMed: Park 2013, PubMed: Kim 1993, PubMed: Bird 1993 - - - - - - - - - CMT - 1 1 Global Variome, with Curator vacancy
00285741 - PubMed: Becker 1995, PubMed: de Brouwer 1993 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285742 - PubMed: de Brouwer 1993, PubMed: de Brouwer 2007 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285743 - PubMed: Moran 2012, PubMed: de Brouwer 1993 - - - - - - - - - ? recurrent infections 1 1 Global Variome, with Curator vacancy
00285744 - PubMed: de Brouwer 1993, PubMed: Arts 1993, PubMed: de Brouwer 2007 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285745 - PubMed: Roessler 1993, PubMed: Becker 1980, PubMed: de Brouwer 1993, PubMed: Becker 1995, PubMed: Roessler 1991 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285746 - PubMed: Becker 1995, PubMed: de Brouwer 1993 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285747 - PubMed: García-Pavía 2003 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285748 - PubMed: Becker 1995, PubMed: de Brouwer 1993 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285749 - PubMed: Al-Maawali 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285750 - PubMed: Synofzik 2014 - - - - - - - - - CMT arts syndrome 1 1 Global Variome, with Curator vacancy
00285751 - PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Cui 2004, PubMed: Liu 1993 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285752 - PubMed: Liu 2010, PubMed: Shearer 1993, PubMed: Manolis 1999, PubMed: Liu 1993 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00285753 - PubMed: Robusto 2015, PubMed: Kim 1993, PubMed: Bird 1993 - - - - - - - - - HL peripheral neuropathy 1 1 Global Variome, with Curator vacancy
00307646 patient PubMed: Puusepp 2020, Journal: Puusepp 2020 2-generation family, 1 affected, unaffected heterozygous carrier females M no Estonia - - - - - ARTS;MRXS18 - 1 1 Sander Pajusalu
00314403 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
00314404 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
00388583 OFTALMO.097 PubMed: Dineiro 2020 - ? - Spain - - - - - retinal disease Pretest syndrome 1 1 LOVD
00395955 P1 PubMed: Georgiou 2021 pedigree ID: 20175, genetic ID: 35460 F - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00396454 FamPatIV1 PubMed: Shirakawa 2021 4-generation family, 1 affected, unaffected heterozygous carrier mother M - Japan - >33y - - - CMT see paper; congenital bilateral hearing loss (HP:0000365), delayed ability to walk (HP:0031936); 11y-reduced visual acuity (HP:0007663); normal intelligence (-HP:0001249), difficulty grasping chopstick, difficulty writing, wheelchair-bound (HP:0006957); bilateral optic atrophy (HP:0000648); claw hand (HP:0001171), pes cavus (HP:0001761), distal muscle weakness (HP:0002460), hypesthesia, muscular atrophy hands/legs (HP:0009055), impaired vibration sensation ankles (HP:0006938), reduced tendon reflexes (HP:0001315), highly elevated creatine kinase (HP:0030234), sensory neuropathy (HP:0000763), ... 1 1 Yvet den Hartog
00408941 IV PubMed: Lerat-2019 - M - France French - - - - retinal disease optic neuropathy, balance disorder, profound hearing loss 1 1 LOVD
00436609 2781452 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - None ARTS;MRXS18 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504, Optic atrophy HP:0000648, Short stature HP:0004322, Intellectual disability HP:0001249 1 1 Rocio Villafuerte-de la Cruz
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