Disease #00225

Official abbreviation PPHP
Name pseudopseudohypoparathyroidism (PPHP)
OMIM ID 612463
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 28
Phenotype entries for this disease 20
Associated with 1 gene GNAS
Associated tissues -
Disease features -
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Individuals

28 entries on 1 page. Showing entries 1 - 28.
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00029543 - PubMed: Elli 2013 - F no (Italy) - - 0 - - PPHP - GNAS GNAS 1 4 Francesca Marta Elli
00029546 - PubMed: Elli 2013 - M no (Italy) - - 0 - - PPHP - GNAS GNAS 1 1 Francesca Marta Elli
00029574 - PubMed: Fernandez-Rebollo 2013 - F ? Spain - - 0 - - PPHP - GNAS GNAS 1 3 Guiomar Perez de Nanclares
00029576 - PubMed: Fernandez-Rebollo 2013 - F ? Spain - - 0 - - PPHP PTH resistance GNAS GNAS 1 2 Guiomar Perez de Nanclares
00029610 - - - ? ? - - - 0 - - PPHP - GNAS GNAS 1 1 Susanne Thiele-Schmitz
00029623 - - - ? ? - - - 0 - - PPHP - GNAS GNAS 1 1 Susanne Thiele-Schmitz
00081316 - PubMed: Klaassens 2010 2-generation family, 2 affecteds F;M - (Netherlands) - - 0 - - PHP-1A, PPHP - GNAS GNAS 1 2 Arrate Pereda
00081317 - PubMed: Long 2007 - M - (United States) - - 0 - - PPHP Height SDS: -0.60; Weight SDS: 1.33; BMI: 14.8; BMI %: 7.3 GNAS GNAS 1 1 Arrate Pereda
00081709 - PubMed: Klaassens 2010 - F - (Netherlands) - - 0 - thyroid hormone replacement therapy PPHP - GNAS GNAS 1 1 Arrate Pereda
00081710 - PubMed: Long 2007 2 generation family; 2 affecteds (proband:son; mother) F;M - (United States) - - 0 - - PHP-1A, PPHP - GNAS GNAS 1 2 Arrate Pereda
00081712 - PubMed: Long 2007 2 generation family; 2 afecteds (proband:daughter, mother) F - (United States) - - 0 - - PHP-1A, PPHP - GNAS GNAS 1 2 Arrate Pereda
00081713 - PubMed: Long 2007 3-generation family; 5 affecteds F;M - (United States) - - 0 - - PHP-1A, PPHP Height SDS: -1.61; Weight SDS: -1.13; BMI: 18.8; BMI %: 13.6, Height SDS: -1.98; Weight SDS: 0.84; BMI: 31.0; BMI %: 95.5, Height SDS: -2.33; Weight SDS: -0.31; BMI: 26.3; BMI %: 80.8, Height SDS: -2.43; Weight SDS: -0.63; BMI: 24.3; BMI %: 73.9, Height SDS: 0.75; Weight SDS: 3.10; BMI: 30.2; BMI %: 99.8 GNAS GNAS 1 5 Arrate Pereda
00087218 - PubMed: Lebrun 2010 3-generation family, 5 affecteds (Proband showed POH/PPHP overlap) F;M - (France) - - 0 - - PHP-1A, POH, PPHP - GNAS GNAS 1 5 Arrate Pereda
00088254 - PubMed: Pereda 2015 Double pregnancy by ICSI (twin brother healthy) F - (Spain) - - 0 - - PPHP - GNAS GNAS 1 1 Arrate Pereda
00100255 - NOT PUBLISHED - F - (Portugal) - - 0 - - PPHP - GNAS GNAS 1 1 Arrate Pereda
00100651 - - - F ? France - - 0 - - PPHP - GNAS GNAS 1 1 Nicolas Richard
00103976 - PubMed: Kacerovska 2008 - F ? (Czech Republic) White - 0 - - PPHP - GNAS GNAS 1 2 Arrate Pereda
00104889 member 5A PubMed: Wu, Y. L. 2014 - F ? China - - 0 - - PPHP - GNAS GNAS 1 1 Arrate Pereda
00104892 - NOT PUBLISHED - M - Spain - - 0 - - PPHP - GNAS GNAS 1 1 Arrate Pereda
00105919 - NOT PUBLISHED - F - Russian Federation - - 0 - - PPHP mild macrocephaly (PC= 51cm); Broad forehead; Almond shaped eyes; Depressed nasal bridge; midfacial hypoplasia with mandibular prognathia; acromelic limb shortening; Cafe-au-lait spots (left forearm and left scapula); fetal alcohol syndrome history GNAS GNAS 1 1 Arrate Pereda
00117961 - NOT DESCRIBED - M ? Spain - - 0 - neuroleptics PPHP IUGR; Low birth weight (1600g); supernumerary ribs (13 pairs); hyperactivity; hypoacusia; delayed language acquisition; malar hypoplasia; high-arched palate; thorax asymmetry; pectum excavatum GNAS GNAS 1 1 Arrate Pereda
00131913 - - One affected child F no France - - 0 - - PPHP Calcinosis (HP:0003761), subcutaneous calcification (HP:0007618), periarticular calcification (HP:0025477), no hypothyroidism (-HP:0000821), no elevated circulating parathyroid hormone level (-HP:0003165) GNAS GNAS 1 1 Nicolas Richard
00131917 - - - F ? (Switzerland) - - 0 - - PPHP Subcutaneous calcification (HP:0007618) GNAS GNAS 1 1 Nicolas Richard
00143690 - NOT PUBLISHED - M no Spain - - 0 - - PPHP - GNAS GNAS 1 1 Arrate Pereda
00144440 - NOT PUBLISHED 2-generation family, 3 affecteds (2 daughter and father) F no (Spain) Latino Americans - 0 - - PPHP - GNAS GNAS 1 3 Arrate Pereda
00144441 - NOT PUBLISHED - F no (Spain) Latino Americans - 0 - - PPHP - GNAS GNAS 1 1 Arrate Pereda
00144442 - NOT PUBLISHED the father apparently only shows short stature M ? (Spain) Latino Americans - 0 - - PPHP - GNAS GNAS 1 1 Arrate Pereda
00229575 - Yakoreva et al. submitted - F - Estonia - - 0 - - PPHP - - GNAS 1 1 Sander Pajusalu
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