Disease #00222

Official abbreviation PHP-1B
Name pseudohypoparathyroidism, type Ib (PHP-1B)
OMIM ID 603233
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 7
Phenotype entries for this disease 3
Associated with 3 genes GNAS, GNAS-AS1, STX16
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Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00029629 - - sibling also affected by PHP1b M no New Caledonia Caucasian - 0 - - PHP-1B diagnosed 12y: activity-induced fatigue and cramps GNAS GNAS 1 2 Deborah JG Mackay
00029630 - - sibling also affected by PHP1b M no - Caucasian - 0 - - PHP-1B diagnosed 17y: activity-induced fatigue, hyperphosphataemia, hypocalcaemia; 21y-bilateral cortical calcifications GNAS GNAS 1 2 Deborah JG Mackay
00029631 - - - M no - Caucasian - 0 - - PHP-1B diagnosed 2y: growth failure, rapid weight gain, mild global developmental delay GNAS GNAS 1 1 Deborah JG Mackay
00095916 - PubMed: Guerreiro 2016 1-generation family, 3 siblings affected: all affected siblings being homozygous for the mutation and unaffected individuals being either heterozygous carriers or harbouring two reference alleles F yes Portugal Caucasian 68y 0 - calcium carbonate 4 g/day; calcitriol 0.25 μg/day; carbamazepine 800mg/day PHP-1B - GNAS, PTH1R PTH1R 1 3 Arrate Pereda
00095917 - PubMed: Guerreiro 2016 asymptomatic M ? Portugal Caucasian 92y 0 - - PHP-1B - PTH1R PTH1R 1 1 Arrate Pereda
00095918 - PubMed: Guerreiro 2016 - F yes Portugal Caucasian - 0 - calcium carbonate, calcitriol PHP-1B - PTH1R PTH1R 1 1 Arrate Pereda
00095919 - PubMed: Guerreiro 2016 - M yes Portugal Caucasian - 0 - calcium carbonate, calcitriol PHP-1B - PTH1R PTH1R 1 1 Arrate Pereda
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