Disease #00225 (PPHP (pseudopseudohypoparathyroidism (PPHP)), OMIM:612463)

Official abbreviation PPHP
Name pseudopseudohypoparathyroidism (PPHP)
OMIM ID 612463
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 29
Phenotype entries for this disease 21
Associated with 1 gene GNAS
Associated tissues -
Disease features -
Remarks -
Date created 2013-10-09 19:13:52 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

29 entries on 1 page. Showing entries 1 - 29.
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00029543 - PubMed: Elli 2013 - F no (Italy) - - - - - PPHP short stature (HP:0004322); ectopic ossification (HP:0011986); GNAS - 1 4 Francesca Marta Elli
00029546 - PubMed: Elli 2013 - M no (Italy) - - - - - PPHP no short stature (-HP:0004322); brachydactyly (HP:0001156); normal face; normal hormone levels; no intellectual disability (-HP:0001249); no obesity (-HP:0001513); ectopic ossification (HP:0011986); n/a; GNAS - 1 1 Francesca Marta Elli
00029574 - PubMed: Fernandez-Rebollo 2013 - F ? Spain - - - - - PPHP - GNAS - 1 3 Guiomar Perez de Nanclares
00029576 - PubMed: Fernandez-Rebollo 2013 - F ? Spain - - - - - PPHP PTH resistance GNAS - 1 2 Guiomar Perez de Nanclares
00029610 - - - ? ? - - - - - - PPHP - GNAS - 1 1 Susanne Thiele-Schmitz
00029623 - - - ? ? - - - - - - PPHP - GNAS - 1 1 Susanne Thiele-Schmitz
00081316 - PubMed: Klaassens 2010 2-generation family, 2 affecteds F;M - (Netherlands) - - - - - PHP1A, PPHP born after ICSI; developed several problems after born: (necrotizing enterocolitis, aspiration pneumonia, hypothyroidism); frontal bossing; depressed nasal bridge; on the neck: regional abnormality of skin, hyperpigmented macules, dermal atrophy; palpable subcutaneous calcifications in the neck and on the helix of right ear; developmental delay; inspiratory stridor; hoarse voice with vocal cord paralysis; hypotonic seizures (3y); biochemical test: elevated serum PTH (64,8 pmol/L; N=1,3-6,8); serum calcium 1,17 mmol/L (N=2,2–2,6), urine calcium 0,0 mmol in 24 h (N= <7,5), serum phosphate 3,89 mmol/L (N= 0,8–2,0), urine phosphate 1,0 mmol in 24 h (N= 13–40).; round face (HP:0000311); truncal obesity (HP:0001956); brachydactyly (HP:000156); ectopic ossification (HP:0011986); GNAS GNAS 1 2 Arrate Pereda
00081317 - PubMed: Long 2007 - M - (United States) - - - - - PPHP Height SDS: -0.60; Weight SDS: 1.33; BMI: 14.8; BMI %: 7.3; no short stature (-HP:0004322); no obesity (-HP:0001513); GNAS GNAS 1 1 Arrate Pereda
00081709 - PubMed: Klaassens 2010 - F - (Netherlands) - - - - 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) - - - - - PHP1A, PPHP Height SDS: -3.13; Weight SDS: 1.06; BMI: 35.7; BMI %: 98.7; short stature (HP:0004322); obesity (HP:0001513); GNAS GNAS 1 2 Arrate Pereda
00081712 - PubMed: Long 2007 2 generation family; 2 afecteds (proband:daughter, mother) F - (United States) - - - - - PHP1A, PPHP Height SDS: 1.31; Weight SDS: 2.72; BMI: 25.7; BMI %: 99.4; normal stature; obesity (HP:0001513); GNAS GNAS 1 2 Arrate Pereda
00081713 - PubMed: Long 2007 3-generation family; 5 affecteds F;M - (United States) - - - - - PHP1A, PPHP Height SDS: -1.61; Weight SDS: -1.13; BMI: 18.8; BMI %: 13.6; no short stature (-HP:0004322); no obesity (-HP:0001513);, Height SDS: -1.98; Weight SDS: 0.84; BMI: 31.0; BMI %: 95.5; short stature (HP:0004322); obesity (HP:0001513);, Height SDS: -2.33; Weight SDS: -0.31; BMI: 26.3; BMI %: 80.8; short stature (HP:0004322); no obesity (-HP:0001513);, Height SDS: -2.43; Weight SDS: -0.63; BMI: 24.3; BMI %: 73.9; short stature (HP:0004322); no obesity (-HP:0001513);, Height SDS: 0.75; Weight SDS: 3.10; BMI: 30.2; BMI %: 99.8; normal stature; obesity (HP:0001513); GNAS GNAS 1 5 Arrate Pereda
00081724 - PubMed: Long 2007 - M - (United States) - - - - - PPHP Height SDS: -2.22; Weight SDS: 0.66; BMI: 28.6; BMI %: 90.8; short stature (HP:0004322); no obesity (-HP:0001513); GNAS GNAS 1 1 Arrate Pereda
00087218 - PubMed: Lebrun 2010 3-generation family, 5 affecteds (Proband showed POH/PPHP overlap) F;M - (France) - - - - - PHP1A, POH, PPHP - GNAS GNAS 1 5 Arrate Pereda
00088254 - PubMed: Pereda 2015 Double pregnancy by ICSI (twin brother healthy) F - (Spain) - - - - - PPHP - GNAS GNAS 1 1 Arrate Pereda
00100255 - NOT PUBLISHED - F - (Portugal) - - - - - PPHP short stature (HP:0004322) (<3rd centile); GNAS GNAS 1 1 Arrate Pereda
00100651 - - - F ? France - - - - - PPHP - GNAS GNAS 1 1 Nicolas Richard
00103976 - PubMed: Kacerovska 2008 - F ? (Czech Republic) White - - - - PPHP - GNAS - 1 2 Arrate Pereda
00104889 member 5A PubMed: Wu, Y. L. 2014 - F ? China - - - - - PPHP short stature (HP:0004322); brain calcification; round face (HP:0000311); normal hormone levels; no hpercalciuria (-HP:0002150); no intellectual disability (-HP:0001249); hyperphosphatemia; no obesity (-HP:0001513); no ectopic ossification (-HP:0011986); GNAS GNAS 1 1 Arrate Pereda
00104892 - NOT PUBLISHED - M - Spain - - - - - PPHP - GNAS GNAS 1 1 Arrate Pereda
00105919 - NOT PUBLISHED - F - Russian Federation - - - - - 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; short stature (HP:0004322); delayed growth (HP:00001510); flat nasal bridge (HP:0005280); normal teeth; brachydactyly-E (HP:0005863); metacapal short; normal hormone levels; no hpercalciuria (-HP:0002150); intellectual disability (HP:0001249); no obesity (-HP:0001513); GNAS GNAS 1 1 Arrate Pereda
00117961 - NOT DESCRIBED - M ? Spain - - - - 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; short stature (HP:0004322); delayed growth (HP:00001510); brachydactyly-E (HP:0005863); broad face; finger short thumb;metacapal short 4rd, metacapal short 5th; thyroid-stimulating hormone excess (HP:0002925); no hpercalciuria (-HP:0002150); mild intellectual disability; no obesity (-HP:0001513); GNAS GNAS 1 1 Arrate Pereda
00131913 - - One affected child F no France - - - - - PPHP Calcinosis (HP:0003761), subcutaneous calcification (HP:0007618), periarticular calcification (HP:0025477), no hypothyroidism (-HP:0000821), no elevated circulating parathyroid hormone level (-HP:0003165); short stature (HP:0004322); round face (HP:0000311); hypercalcemia; hypophosphatemia; normal onset puberty; GNAS GNAS 1 1 Nicolas Richard
00131917 - - - F ? (Switzerland) - - - - - PPHP Subcutaneous calcification (HP:0007618); brachydactyly-E (HP:0005863); no hpercalciuria (-HP:0002150); vitamin D deficiency (HP:0100512) GNAS GNAS 1 1 Nicolas Richard
00143690 - NOT PUBLISHED - M no Spain - - - - - PPHP short stature (HP:0004322) (<3rd centile); brachydactyly-E (HP:0005863); no calcification; metacapal short 3rd;metacapal short 4rd, metacapal short 5th; normal hormone levels; no hpercalciuria (-HP:0002150); borderline intellectual disability; no obesity (-HP:0001513); no ectopic ossification (-HP:0011986); normal vitamins GNAS GNAS 1 1 Arrate Pereda
00144440 - NOT PUBLISHED 2-generation family, 3 affecteds (2 daughter and father) F no (Spain) Latino Americans - - - - PPHP growth delay (HP:0001510); short stature (HP:0004322) (<3rd centile); delayed growth (HP:00001510); no nasal bridge; normal teeth; brachydactyly-E (HP:0005863); normal skin; no calcification; normal face; metacapal short 3rd;metacapal short 4rd, metacapal short 5th; normal hormone levels; no hpercalciuria (-HP:0002150); no intellectual disability (-HP:0001249); decreased body weight (HP:0004325); GNAS GNAS 1 3 Arrate Pereda
00144441 - NOT PUBLISHED - F no (Spain) Latino Americans - - - - PPHP short stature (HP:0004322) (<3rd centile); GNAS GNAS 1 1 Arrate Pereda
00144442 - NOT PUBLISHED the father apparently only shows short stature M ? (Spain) Latino Americans - - - - PPHP short stature (HP:0004322) (<3rd centile); GNAS GNAS 1 1 Arrate Pereda
00229575 - PubMed: Yakoreva 2019, Journal: Yakoreva 2019 - F - Estonia - - - - - PPHP - - GNAS 1 1 Sander Pajusalu
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