All individuals with variants in gene PRKAR1A

59 entries on 1 page. Showing entries 1 - 59.
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00000011 NA04364 PubMed: Bell 2011 - M - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00000012 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000014 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 2 1 Global Variome, with Curator vacancy
00000015 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000016 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 2 1 Global Variome, with Curator vacancy
00000017 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000018 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000021 - PubMed: Bell 2011 - - - - - - - - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000027 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000028 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000031 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000033 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000034 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000035 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000036 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000037 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000038 - PubMed: Bell 2011 - - - - - - - - - epilepsy - 1 1 Global Variome, with Curator vacancy
00000039 - PubMed: Bell 2011 - - - - - - - - - ADPKD - 1 1 Global Variome, with Curator vacancy
00000040 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00036580 - - - - - Germany - - - - - ? myxoma (HP:0011672) large left atrial, abnormal skin pigmentation (HP:0001000) 1 1 Andreas Laner
00036581 - - - - - Germany - - - - - CNC1 suspected Carney complex 1 1 Andreas Laner
00079988 - PubMed: Elli et al.2016 - F no (Bosnia and Herzegovina) - - - - - ACRDYS1 advanced bone age, caeliac disease, glucose intolerance with insulin resistance, severe peripheral dysostosis 1 1 Francesca Marta Elli
00079989 - PubMed: Elli et al.2016 - M no (Italy) - - - - - ACRDYS1 IUGR, neonatal hypoglycemia, enamel dysplasia 1 1 Francesca Marta Elli
00079990 - PubMed: Elli et al.2016 - M no (Italy) - - - - - ACRDYS1 IUGR, neonatal hypoglycemia, gastroesophageal reflux, dysmorphic spines 1 1 Francesca Marta Elli
00080137 - PubMed: Muhn et al.2013 - F ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, brachydactily, mental retardation, cone-shaped epiphyses, short neck, cafè-au-lait spots 1 1 Francesca Marta Elli
00080148 - PubMed: Muhn et al.2013 - F ? - - - - - - BDE1 Short stature, short IV metacarpal and distal phalanx of the thumb (I) 1 1 Francesca Marta Elli
00080149 - PubMed: Muhn et al.2013 - F ? - - - - - - ACRDYS1 short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, sensorineural hearing loss, short neck 1 1 Francesca Marta Elli
00080150 - PubMed: Muhn et al.2013 - F ? - - - - - - ACRDYS1 TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, cone-shaped epiphyses 1 1 Francesca Marta Elli
00080152 - PubMed: Nagasaki et al.2012 - F no (Japan) - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, IUGR, cone-shaped epiphyses 1 1 Francesca Marta Elli
00080154 - PubMed: Li et al.2014 - F no (China) - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily 1 1 Francesca Marta Elli
00080164 - PubMed: Michot et al - F ? - - - - - - ACRDYS1 PTH resistance3, Tsh resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses 1 1 Francesca Marta Elli
00080165 - PubMed: Michot et al.2012 - F ? - - - - - - ACRDYS1 PTH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses 1 1 Francesca Marta Elli
00080166 - PubMed: Michot et al.2012 - F ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, brachydactily, IUGR, cone-shaped epiphyses 1 1 Francesca Marta Elli
00080167 - PubMed: Lee et al.2012 - M ? - - - - - - ACRDYS1 short stature, dysmorphic facies, brachydactily, mental retardation, moderate mixed hearing loss, congenital hypothyroidism, unilateral undescended testis 1 1 Francesca Marta Elli
00080168 - PubMed: Lee et al.2012 - M ? - - - - - - ACRDYS1 short stature, dysmorphic facies, brachydactily, mental retardation 1 1 Francesca Marta Elli
00080174 - PubMed: Linglart et al.2012 - F ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, IUGR, cone-shaped epiphyses, advanced bone age 1 1 Francesca Marta Elli
00080175 - PubMed: Linglart et al.2012 - M ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, +1digit 1 1 Francesca Marta Elli
00080176 - PubMed: Linglart et al.2012 - M ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily 1 1 Francesca Marta Elli
00080179 - PubMed: Linglart et al.2012 - F ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance 1 1 Francesca Marta Elli
00080180 - PubMed: Linglart et al.2012 - M ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advaned bone age 1 1 Francesca Marta Elli
00080691 - PubMed: Linglart et al.2012 - M ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA 1 1 Francesca Marta Elli
00080692 - PubMed: Linglart et al.2012 - F ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance 1 1 Francesca Marta Elli
00080693 - PubMed: Linglart et al.2012 - M ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age 1 1 Francesca Marta Elli
00080694 - PubMed: Linglart et al.2012 - F ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, FSH resistance 1 1 Francesca Marta Elli
00080696 - PubMed: Linglart et al.2012 - F ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, FSH resistance 1 1 Francesca Marta Elli
00080697 - PubMed: Linglart et al.2012 - M ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA 1 1 Francesca Marta Elli
00080698 - PubMed: Linglart et al.2012 - F ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, SGA 1 1 Francesca Marta Elli
00080699 - PubMed: Linglart et al.2012 - M ? - - - - - - ACRDYS1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, SGA 1 1 Francesca Marta Elli
00100342 - NOT PUBLISHED - F no Morocco - - - - - ACRDYS1 - 1 1 Arrate Pereda
00100381 - NOT PUBLISHED - F - (France) - - - - - ACRDYS1 - 1 1 Caroline Silve
00100382 - NOT PUBLISHED 2-generation family, 2 affecteds, (children and mother) M - (France) - - - - - ACRDYS2 - 1 2 Caroline Silve
00100383 - NOT PUBLISHED - F - (France) - - - - - ACRDYS1 - 1 1 Caroline Silve
00100384 - NOT PUBLISHED - F - (France) - - - - - ACRDYS1 - 1 1 Caroline Silve
00132070 1 - - F no Brazil - >13y - - - ACRDYS1 - 1 1 Karina Silveira
00248448 Fam1Pat4 PubMed: Dieterich 2013 - - yes Mali Malian - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound 1 1 Johan den Dunnen
00248502 - - - - - - - - - - - DFNB;ARNSHL - 1 2 LOVD
00385177 70 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - retinal disease HP:0001789 Hydrops fetalis; HP:0001319 Neonatal hypotonia; HP:0001263 Global developmental delay; HP:0000541 Retinal detachment; HP:0007973 Retinal dysplasia 1 1 LOVD
00436128 - - - F no Hungary - - - - - Carney complex multiple cutaneous myxomas HP:0030428 left atrial myxoma HP:0011672 blue nevus HP:0100814 1 1 Anikó Bozsik
00446747 Pat9 PubMed: Miszalski-Jamka 2017 case solved - - - - - - - - LVNC - 1 1 Johan den Dunnen
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