Disease #01160

Official abbreviation ACRDYS-1
Name acrodysostosis, with/without hormone resistance (ACRDYS-1)
OMIM ID 101800
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 39
Phenotype entries for this disease 33
Associated with 1 gene PRKAR1A
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Individuals

39 entries on 1 page. Showing entries 1 - 39.
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00079987 - PubMed: Elli 2016 - M no (Italy) - - 0 - - ACRDYS-1 hypospadias - AGL 2 1 Francesca Marta Elli
00079988 - PubMed: Elli et al.2016 - F no (Bosnia and Herzegovina) - - 0 - - ACRDYS-1 advanced bone age, caeliac disease, glucose intolerance with insulin resistance, severe peripheral dysostosis - PRKAR1A 1 1 Francesca Marta Elli
00079989 - PubMed: Elli et al.2016 - M no (Italy) - - 0 - - ACRDYS-1 IUGR, neonatal hypoglycemia, enamel dysplasia - ALG6, PRKAR1A 2 1 Francesca Marta Elli
00079990 - PubMed: Elli et al.2016 - M no (Italy) - - 0 - - ACRDYS-1 IUGR, neonatal hypoglycemia, gastroesophageal reflux, dysmorphic spines - ALG6, PRKAR1A 2 1 Francesca Marta Elli
00080137 - PubMed: Muhn et al.2013 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, brachydactily, mental retardation, cone-shaped epiphyses, short neck, cafè-au-lait spots - ALG6, PRKAR1A 2 1 Francesca Marta Elli
00080149 - PubMed: Muhn et al.2013 - F ? - (not applicable) - - 0 - - ACRDYS-1 short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, sensorineural hearing loss, short neck - ALG6, PRKAR1A 2 1 Francesca Marta Elli
00080150 - PubMed: Muhn et al.2013 - F ? - (not applicable) - - 0 - - ACRDYS-1 TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, cone-shaped epiphyses - PRKAR1A 1 1 Francesca Marta Elli
00080151 - PubMed: Muhn et al.2013 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, short stature, brachydactily, cone-shaped epiphyses, FSH resistance - ALPL, PRKAR1A 2 1 Francesca Marta Elli
00080152 - PubMed: Nagasaki et al.2012 - F no (Japan) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, IUGR, cone-shaped epiphyses - ALPL, PRKAR1A 2 1 Francesca Marta Elli
00080154 - PubMed: Li et al.2014 - F no (China) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily - PRKAR1A 1 1 Francesca Marta Elli
00080161 - PubMed: Kaname et al.2014 - F ? - (not applicable) - - 0 - - ACRDYS-1 TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation - - 1 1 Francesca Marta Elli
00080162 - PubMed: Michot et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, short stature, brachydactily, cone-shaped epiphyses - - 1 1 Francesca Marta Elli
00080163 - PubMed: Michot et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, brachydactily, cone-shaped epiphyses - AMPD1, PRKAR1A 2 1 Francesca Marta Elli
00080164 - PubMed: Michot et al - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance3, Tsh resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses - PRKAR1A 1 1 Francesca Marta Elli
00080165 - PubMed: Michot et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses - AMPD1, PRKAR1A 2 1 Francesca Marta Elli
00080166 - PubMed: Michot et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, brachydactily, IUGR, cone-shaped epiphyses - AMPD1, PRKAR1A 2 1 Francesca Marta Elli
00080167 - PubMed: Lee et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 short stature, dysmorphic facies, brachydactily, mental retardation, moderate mixed hearing loss, congenital hypothyroidism, unilateral undescended testis - ASPM, PRKAR1A 2 1 Francesca Marta Elli
00080168 - PubMed: Lee et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 short stature, dysmorphic facies, brachydactily, mental retardation - PRKAR1A 1 1 Francesca Marta Elli
00080174 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, IUGR, cone-shaped epiphyses, advanced bone age - DPYD, PRKAR1A 2 1 Francesca Marta Elli
00080175 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, +1digit - PRKAR1A 1 1 Francesca Marta Elli
00080176 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily - DPYD, PRKAR1A 2 1 Francesca Marta Elli
00080178 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 - - - 0 1 Francesca Marta Elli
00080179 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance - DPYD, PRKAR1A 2 1 Francesca Marta Elli
00080180 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advaned bone age - DPYD, PRKAR1A 2 1 Francesca Marta Elli
00080691 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA - DPYD, PRKAR1A 2 1 Francesca Marta Elli
00080692 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance - DPYD, PRKAR1A 2 1 Francesca Marta Elli
00080693 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age - DPYD, PRKAR1A 2 1 Francesca Marta Elli
00080694 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, FSH resistance - DPYD, PRKAR1A 2 1 Francesca Marta Elli
00080695 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance - DPYD 2 1 Francesca Marta Elli
00080696 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, FSH resistance - DPYD, PRKAR1A, SAMHD1 2 1 Francesca Marta Elli
00080697 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA - DPYD, PRKAR1A 2 1 Francesca Marta Elli
00080698 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, SGA - DPYD, PRKAR1A 2 1 Francesca Marta Elli
00080699 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, SGA - DPYD, PRKAR1A 2 1 Francesca Marta Elli
00100341 - NOT PUBLISHED - F - Spain - - 0 - - ACRDYS-1 - PRKAR1A DPYD 2 1 Arrate Pereda
00100342 - NOT PUBLISHED - F no Morocco - - 0 - - ACRDYS-1 - PRKAR1A DPYD, PRKAR1A, SAMHD1 2 1 Arrate Pereda
00100381 - NOT PUBLISHED - F - (France) - - 0 - - ACRDYS-1 - PRKAR1A PRKAR1A 1 1 Caroline Silve
00100383 - NOT PUBLISHED - F - (France) - - 0 - - ACRDYS-1 - PRKAR1A PRKAR1A 1 1 Caroline Silve
00100384 - NOT PUBLISHED - F - (France) - - 0 - - ACRDYS-1 - PRKAR1A PRKAR1A 1 1 Caroline Silve
00132070 1 - - F no Brazil - >13y 0 - - ACRDYS-1 - ADAMTSL2, FBN1, GNAS, PRKAR1A PRKAR1A 1 1 Karina Silveira
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