All individuals with variants in gene GNAS

107 entries on 2 pages. Showing entries 1 - 100.
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00029629 - - sibling also affected by PHP1b M no New Caledonia white - - - - PHP1B diagnosed 12y: activity-induced fatigue and cramps 1 2 Deborah JG Mackay
00029630 - - sibling also affected by PHP1b M no - white - - - - PHP1B diagnosed 17y: activity-induced fatigue, hyperphosphataemia, hypocalcaemia; 21y-bilateral cortical calcifications 1 2 Deborah JG Mackay
00029631 - - - M no - white - - - - PHP1B diagnosed 2y: growth failure, rapid weight gain, mild global developmental delay 1 1 Deborah JG Mackay
00079670 private email contact me for details 2-generation family, unaffected parents F no - - - - - - ? - 1 1 Johan den Dunnen
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); 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); 1 1 Arrate Pereda
00081319 - PubMed: Germain-Lee 2003 2-generation family, 3 affecteds (2 siblings, mother) F - (United States) - - - - GH PHP1A secondary amenorrhea; short stature (HP:0004322); intellectual disability (HP:0001249); normal onset puberty; round face (HP:0000311); obesity (HP:0001513); brachydactyly (HP:000156); ectopic ossification (HP:0011986); no hypercalcemia (-HP:0003072); high follicle stimulating hormone (HP:0008232), growth hormone deficiency (HP:0000824),high luteinizing hormone (HP:0011969), high circulating parathyroid hormone (HP:0003165), thyroid-stimulating hormone excess (HP:0002925) 1 3 Arrate Pereda
00081709 - PubMed: Klaassens 2010 - F - (Netherlands) - - - - thyroid hormone replacement therapy PPHP - 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); 1 2 Arrate Pereda
00081711 - PubMed: Long 2007 - F - (United States) - - - - - PHP1A Height SDS: 0.26; Weight SDS: 1.46; BMI: 23.8; BMI %: 95.8; normal stature; obesity (HP:0001513); 1 1 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); 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); 1 5 Arrate Pereda
00081714 - PubMed: Long 2007 - F - (United States) - - - - - PHP1A Height SDS: -1.75; weight SDS: 2.18; BMI: 42.4; BMI %: 98.8; normal stature; obesity (HP:0001513); 1 1 Arrate Pereda
00081720 - PubMed: Long 2007 - M - (United States) - - - - - PHP1A Height SDS: -1.29; Weight SDS: 4.18; BMI: 23.6; BMI %: 100.0; normal stature; obesity (HP:0001513); 1 1 Arrate Pereda
00081723 - PubMed: Long 2007 - F - (United States) - - - - - PHP1A Height SDS: 2.60; Weight SDS: 5.28; BMI: 39.3; BMI %: 100.0; short stature (HP:0004322); obesity (HP:0001513); 1 1 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); 1 1 Arrate Pereda
00081818 - PubMed: Garin 2015 - M no (France) - - - - - PHP1A normal stature; intellectual disability (HP:0001249); round face (HP:0000311); obesity (HP:0001513); brachydactyly, type E (HP:0005863); ectopic ossification (HP:0011986); 1 1 Guiomar Perez de Nanclares
00081820 - PubMed: Long 2007 - F - (United States) - - - - - PHP1A Height SDS: -4.81; Weight SDS: -1.11; BMI: 28.4; BMI %: 90.4; short stature (HP:0004322); no obesity (-HP:0001513); 1 1 Arrate Pereda
00081821 - PubMed: Long 2007 - F - (United States) - - - - - PHP1A Height SDS: -1.35; Weight SDS: 1.17; BMI: 21.5; BMI %: 98; normal stature; obesity (HP:0001513); 1 1 Arrate Pereda
00081822 - PubMed: Long 2007 - F - (United States) - - - - - PHP1A Height SDS: -1.08; Weight SDS: 2.53; BMI: 42; BMI %: 99.5; normal stature; obesity (HP:0001513); 1 1 Arrate Pereda
00081823 - PubMed: Long 2007 - F - (United States) - - - - - PHP1A Height SDS: -1.46; Weight SDS: 0.96; BMI: 28.8; BMI %: 92.6; normal stature; no obesity (-HP:0001513); 1 1 Arrate Pereda
00081824 - PubMed: Long 2007 - M - (United States) - - - - - POH - 1 1 Arrate Pereda
00087209 - PubMed: Lebrun 2010 - M - (France) - - - - - POH - 1 1 Arrate Pereda
00087210 - PubMed: Lebrun 2010 PHP1A POH-like M - (France) - - - - - POH - 1 1 Arrate Pereda
00087211 - PubMed: Lebrun 2010 - F - (France) - - - - - POH - 1 1 Arrate Pereda
00087212 - PubMed: Lebrun 2010 - F - (France) - - - - - POH - 1 1 Arrate Pereda
00087213 - PubMed: Lebrun 2010 - F - (France) - - - - - POH - 1 1 Arrate Pereda
00087214 - PubMed: Lebrun 2010 - M - (France) - - - - - POH - 1 1 Arrate Pereda
00087215 - PubMed: Lebrun 2010 - F - (France) - - - - - POH - 1 1 Arrate Pereda
00087216 - - - M - (France) - - - - - POH - 1 1 Arrate Pereda
00087217 - PubMed: Lebrun 2010 - M - (France) - - - - - POH - 1 1 Arrate Pereda
00087218 - PubMed: Lebrun 2010 3-generation family, 5 affecteds (Proband showed POH/PPHP overlap) F;M - (France) - - - - - PHP1A, POH, PPHP - 1 5 Arrate Pereda
00087219 - PubMed: Lebrun 2010 2-generation family, 3 affecteds (mother and 2 siblings) M - (France) - - - - - PHP1A At birth: at term; weight= 2650 g, Under treatment: Ca= 2.32 (mmol/L; 2.2–2.6); P= 1.87 (mmol/L; 1.1-2.0); PTH= 348 (pg/mL; 10–71); TSH= 0.9 (mUl/mL; 0.5–4.5); brachydactyly (HP:000156); ectopic ossification (HP:0011986);, weight= +3.5 SD; height= +0.3 SD; BMI= 21.9; local subcutaneous ossifications (abdomen and knees) and cerebral calcifications; Ca= 1.7 (mmol/L; 2.2–2.6); P= 3.0 (mmol/L; 1.1-2.0); PTH= 398 (pg/mL; 10–71); TSH= 7.4 (mUl/mL; 0.5–4.5); Gsα activity= 67 (80–110%); normal stature; intellectual disability (HP:0001249); round face (HP:0000311); obesity (HP:0001513); brachydactyly (HP:000156); ectopic ossification (HP:0011986); 1 2 Arrate Pereda
00087220 - PubMed: Lebrun 2010 2-generation family, 3 affecteds (mother and 2 siblings) M - (France) - - - - - PHP1A At birth: term= 38.5 week; weight= 2500 g; height= 44 cm; head circumference= 34 cm; IUGR (3rd centile), Under treatment: Ca= 2.35 (mmol/L; 2.2–2.6); P= 2 (mmol/L; 1.1-2.0); PTH= 260 (pg/mL; 10–71); TSH= 0.2 (mUl/mL; 0.5–4.5); intellectual disability (HP:0001249); brachydactyly (HP:000156); ectopic ossification (HP:0011986);, weight= -0.5 SD; height= -2 SD; numerous inflammatory subcutaneous ossifications; Ca= 2.4 (mmol/L; 2.2–2.6); P= 2.1 (mmol/L; 1.1-2.0); PTH= 25 (pg/mL; 10–71); TSH= 9.6 (mUl/mL; 0.5–4.5); Gsα activity= 60 (80–110%); mild short stature (HP:0003502); intellectual disability (HP:0001249); no dysmorphic face (-HP:0001999); no obesity (-HP:0001513); brachydactyly (HP:000156); ectopic ossification (HP:0011986); 1 1 Arrate Pereda
00087221 - PubMed: Lebrun 2010 2 twins affected (de novo) M - (France) - - - - - PHP1A weight= +1 SD; height= -1 SD; no IUGR; multiple subcutaneous ossifications (10 cm of diameter for the largest); Ca= 2.6 (mmol/L; 2.2–2.6); P= 2.3 (mmol/L; 1.1-2.0); PTH= 149 (pg/mL; 10–71); TSH= 0.6 under treatment (mUl/mL; 0.5–4.5); Gsα activity= 55 (80–110%); normal stature; round face (HP:0000311); no obesity (-HP:0001513); brachydactyly, type E (HP:0005863); ectopic ossification (HP:0011986); 1 2 Arrate Pereda
00087222 - PubMed: Lebrun 2010 2 twins affected (de novo) M - (France) - - - - - PHP1A weight= +1 SD; height= -1 SD; no IUGR; multiple subcutaneous ossifications; Ca= 2.6 (mmol/L; 2.2–2.6); P= 2.1 (mmol/L; 1.1-2.0); PTH= 83 (pg/mL; 10–71); TSH= 0.1 under treatment (mUl/mL; 0.5–4.5); Gsα activity= 58 (80–110%); normal stature; round face (HP:0000311); no obesity (-HP:0001513); brachydactyly (HP:000156); ectopic ossification (HP:0011986); 1 1 Arrate Pereda
00087223 - PubMed: Lebrun 2010 - M - (France) - - - - - PHP1A weight= +5 SD; height= +0.7 SD; Ca= 2.2 (mmol/L; 2.2–2.6); PTH= 79 (pg/mL; 10–65); TSH= 5.8 (mUl/mL; 0.5–4.5); normal stature; intellectual disability (HP:0001249); round face (HP:0000311); obesity (HP:0001513); brachydactyly (HP:000156); ectopic ossification (HP:0011986); 1 1 Arrate Pereda
00087224 - PubMed: Lebrun 2010 - F - (France) - - - - - PHP1A Ca= 1.7 (mmol/L; 2.2–2.6); P= 2.1 (mmol/L; 1.1-2.0); PTH= 500 (pg/mL; 10–71); TSH= 8.9 (mUl/mL; 0.5–4.5), weight= 61 kg; height= 150 cm; PTH (under treatment)= 85 (pg/mL; 10–71); short stature (HP:0004322); no intellectual disability (-HP:0001249); round face (HP:0000311); no obesity (-HP:0001513); brachydactyly (HP:000156); ectopic ossification (HP:0011986); 1 1 Arrate Pereda
00087226 - PubMed: Lebrun 2010 - F - (France) - - - - - PHP1A ectopic ossification (HP:0011986); 1 1 Arrate Pereda
00088254 - PubMed: Pereda 2015 Double pregnancy by ICSI (twin brother healthy) F - (Spain) - - - - - PPHP - 1 1 Arrate Pereda
00088256 - PubMed: Pereda 2015 - M - (Spain) - - - - - POH - 1 1 Arrate Pereda
00089034 - PubMed: Germain-Lee 2003 2-generation family, 3 affecteds (2 siblings, mother) M - (United States) - - - - - PHP1A secondary amenorrhea; BMI=35.70; severe short stature (HP:0003510); intellectual disability (HP:0001249); normal onset puberty; round face (HP:0000311); obesity (HP:0001513); brachydactyly (HP:000156); ectopic ossification (HP:0011986); no hypercalcemia (-HP:0003072); growth hormone deficiency (HP:0000824), high circulating parathyroid hormone (HP:0003165), thyroid-stimulating hormone excess (HP:0002925) 1 1 Arrate Pereda
00089141 - PubMed: Germain-Lee 2003 - F - (United States) - - - - - PHP1A mild short stature (HP:0003502); mild intellectual disability (HP:0001256); round face (HP:0000311); obesity (HP:0001513); brachydactyly (HP:000156); normal bone age; ectopic ossification (HP:0011986); no hypercalcemia (-HP:0003072); high circulating parathyroid hormone (HP:0003165), thyroid-stimulating hormone excess (HP:0002925) 1 1 Arrate Pereda
00092284 - NOT PUBLISHED 2-generation family, 2 affecteds (mother and son) M - (Spain) - - - - Euritox 37.5mcg/day PHP1A Growth: 15.3cm/year (p>99, 4.08 DE); global developmental delay; fine psychomotor retardation;; normal stature; no growth abnormality (-HP:0001507); round face (HP:0000311); no obesity (-HP:0001513); hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); high circulating parathyroid hormone (HP:0003165), mild short stature (HP:0003502); obesity (HP:0001513);, normal stature; obesity (HP:0001513);, normal stature; obesity (HP:0001513); no calcifications; thyroid-stimulating hormone excess (HP:0002925) 1 1 Arrate Pereda
00100243 - NOT PUBLISHED 2-generatin family, 4 affecteds (mother, 2 siblings) F - (Portugal) - - - - ITT; LT4 (2.5mcg/Kg/d) PHA1A short left femur;absent GH response; low estradiol; vitamin D deficiency (HP:0100512); short stature (HP:0004322); delayed growth (HP:00001510); intellectual disability (HP:0001249); normal onset puberty; round face (HP:0000311); obesity (HP:0001513); brachydactyly, type E (HP:0005863); no hypercalcemia (-HP:0003072); hyperphosphatemia (HP:0002905); high circulating parathyroid hormone (HP:0003165), thyroid-stimulating hormone excess (HP:0002925) 1 4 Arrate Pereda
00100255 - NOT PUBLISHED - F - (Portugal) - - - - - PPHP short stature (HP:0004322) (<3rd centile); 1 1 Arrate Pereda
00100258 - NOT PUBLISHED - M - (Portugal) - - - - LT4 (2.8mcg/Kg/d) PHP1A vitamin D deficiency (HP:0100512); short stature (HP:0004322); intellectual disability (HP:0001249); obesity (HP:0001513); brachydactyly, type E (HP:0005863); no hypercalcemia (-HP:0003072); hyperphosphatemia (HP:0002905); high circulating parathyroid hormone (HP:0003165), thyroid-stimulating hormone excess (HP:0002925) 1 1 Arrate Pereda
00100260 - NOT PUBLISHED - M - (Portugal) - - - - LT4 PHP1A vitamin D deficiency (HP:0100512); short stature (HP:0004322); intellectual disability (HP:0001249); dysmorphic face (HP:0001999); obesity (HP:0001513); brachydactyly, type E (HP:0005863); no hypercalcemia (-HP:0003072); hyperphosphatemia (HP:0002905); high circulating parathyroid hormone (HP:0003165), thyroid-stimulating hormone excess (HP:0002925) 1 1 Arrate Pereda
00100646 - - - F no France - - - - - PHP1A moderate prenatal growth retardation (HP:0011408); dysmorphic face (HP:0001999); ectopic ossification (HP:0011986); hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); high parathyroid hormone, hyperparathyroidism (HP:0000843), thyroid-stimulating hormone excess (HP:0002925) 1 1 Nicolas Richard
00100648 - - - M no France - - - - - PHP1A at 3years 1/2: + 4sd Height + 4sd Weight; dysmorphic face (HP:0001999); obesity (HP:0001513); brachydactyly (HP:000156); widely spaced teeth (HP:0000687); accelerated bone age (HP:0002805); ectopic ossification (HP:0011986); hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); high parathyroid hormone, hyperparathyroidism (HP:0000843), thyroid-stimulating hormone excess (HP:0002925) 1 1 Nicolas Richard
00100650 - - - M ? France - - - - - PHP1A intellectual disability (HP:0001249); dysmorphic face (HP:0001999); brachydactyly (HP:000156); no ectopic ossification (-HP:0011986); hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); high parathyroid hormone, hyperparathyroidism (HP:0000843), thyroid-stimulating hormone excess (HP:0002925) 1 1 Nicolas Richard
00100651 - - - F ? France - - - - - PPHP - 1 1 Nicolas Richard
00103954 - PubMed: Park 2010 - M no (Korea, South (Republic)) - - - - - PHP1A short stature (HP:0004322); no growth abnormality (-HP:0001507); no intellectual disability (-HP:0001249); round face (HP:0000311); obesity (HP:0001513); brachydactyly (HP:000156); ectopic ossification (HP:0011986); hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); high parathyroid hormone, hyperparathyroidism (HP:0000843), thyroid-stimulating hormone excess (HP:0002925) 1 1 Arrate Pereda
00104887 Member 3A PubMed: Wu, Y. L. 2014 - F ? China - - - - - PHP1A short stature (HP:0004322); intellectual disability (HP:0001249); round face (HP:0000311); no obesity (-HP:0001513); ectopic ossification (HP:0011986); hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); high parathyroid hormone, hyperparathyroidism (HP:0000843), thyroid-stimulating hormone excess (HP:0002925) 1 1 Arrate Pereda
00104888 member 4A PubMed: Wu, Y. L. 2014 - M ? China - - - - - PHP1A short stature (HP:0004322); intellectual disability (HP:0001249); round face (HP:0000311); obesity (HP:0001513); brachydactyly (HP:000156); ectopic ossification (HP:0011986); hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); high parathyroid hormone, hyperparathyroidism (HP:0000843), thyroid-stimulating hormone excess (HP:0002925) 1 1 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); 1 1 Arrate Pereda
00104892 - NOT PUBLISHED - M - Spain - - - - - PPHP - 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); 1 1 Arrate Pereda
00107544 - PubMed: Pinsker 2006 - F ? (England) - - - - - PHP1A normal stature; no growth abnormality (-HP:0001507); mild intellectual disability (HP:0001256); brachydactyly (HP:000156); ectopic ossification (HP:0011986); calcification cartilage (HP:0100593); hypercalcemia (HP:0003072); thyroid-stimulating hormone excess (HP:0002925) 1 3 Arrate Pereda
00107545 3-year-old sister PubMed: Pinsker 2006 - F ? England - - - - - PHP1A short stature (HP:0004322); delayed growth (HP:00001510); mild intellectual disability (HP:0001256); brachydactyly (HP:000156); hypercalcemia (HP:0003072); abnormal chloride homeostasis (HP:0011422); high parathyroid hormone, hyperparathyroidism (HP:0000843), thyroid-stimulating hormone excess (HP:0002925) 1 1 Arrate Pereda
00107546 Mother PubMed: Pinsker 2006 - F ? (England) - - - - - PHP1A delayed puberty (HP:0000823); ectopic ossification (HP:0011986); high parathyroid hormone, hyperparathyroidism (HP:0000843) 1 1 Arrate Pereda
00107714 - PubMed: Lim 2002 - M - (Singapore) - - - - - PHP1A short stature (HP:0004322); mild intellectual disability (HP:0001256); delayed puberty (HP:0000823); no dysmorphic face (-HP:0001999); brachydactyly (HP:000156); widely spaced teeth (HP:0000687); no ectopic ossification (-HP:0011986); no calcifications; hypercalcemia (HP:0003072); high parathyroid hormone, hyperparathyroidism (HP:0000843), thyroid-stimulating hormone excess (HP:0002925) 1 1 Arrate Pereda
00107715 - PubMed: Lim 2002 - M ? (Singapore) - - - - - PHP1A normal stature; moderate intellectual disability (HP:0002342); round face (HP:0000311); brachydactyly (HP:000156); small teeth (HP:0000691); no ectopic ossification (-HP:0011986); brain/intracerebral/intracranial calcification (HP:0002514); hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); high parathyroid hormone, hyperparathyroidism (HP:0000843) 1 1 Arrate Pereda
00107716 - PubMed: Lim 2002 - M ? (Singapore) - - - - - PHP1A normal stature; moderate intellectual disability (HP:0002342); round face (HP:0000311); brachydactyly (HP:000156); widely spaced teeth (HP:0000687); ectopic ossification (HP:0011986); no hypercalcemia (-HP:0003072); hyperphosphatemia (HP:0002905); high parathyroid hormone, hyperparathyroidism (HP:0000843) 1 1 Arrate Pereda
00111415 S_066 PubMed: Popp 2017, Journal: Popp 2017 - F no - - - - - - ID Mild ID, obesity, normal growth, several fractures, hypertonia lower limbs, movement anomalies; mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342) 1 1 Bernt Popp
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); 1 1 Arrate Pereda
00121856 - PubMed: Aldred 2000 maternal germ-line mosaicism; loss of function M no Greece - - - - - PHP1A pancreatic insufficiency; loose stools; dysmorphic face (HP:0001999); brachydactyly (HP:000156); high circulating parathyroid hormone (HP:0003165) 1 1 Arrate Pereda
00131908 - - Only affected individual in the family M no France - - - - - PHP1A Hypothyroidism (HP:0000821), overweight (HP:0025502), osteoma cutis (HP:0025027), muscle cramps (HP:0003394),; short stature (HP:0004322); borderline intellectual disability (HP:0006889); brachydactyly, type E (HP:0005863); high circulating parathyroid hormone (HP:0003165) 1 1 Nicolas Richard
00131909 - - Only affected individual M no France - - - - - PHP1A Pseudohypoparathyroidism (HP:0000852); intellectual disability (HP:0001249); round face (HP:0000311); brachydactyly, type E (HP:0005863); no ectopic ossification (-HP:0011986); no calcifications; hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); 1 1 Nicolas Richard
00131910 - - - F no France - - - - - PHP1A Hypothyroidism (HP:0000821), Broad foot (HP:0001769), short nose (HP:0003196), neck pterygia (HP:0009759), narrow chest (HP:0000774), Pseudohypoparathyroidism (HP:0000852); no growth abnormality (-HP:0001507); round face (HP:0000311); hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); 1 1 Nicolas Richard
00131911 - - Only affected individual M ? (France) - - - - - PHP1A cafe-au-lait spot (HP:0000957),cryptorchidism (HP:0000028), hypothyroidism (HP:0000821); no dysmorphic face (-HP:0001999); obesity (HP:0001513); brachydactyly (HP:000156); ectopic ossification (HP:0011986); hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); high circulating parathyroid hormone (HP:0003165) 1 1 Nicolas Richard
00131912 - - One affected parent F no France - - - - - PHP1A Pseudohypoparathyroidism (HP:0000852), hypothyroidism (HP:0000821), subcutaneous calcification (HP:0007618); short stature (HP:0004322); no intellectual disability (-HP:0001249); round face (HP:0000311); brachydactyly (HP:000156); hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); 1 2 Nicolas Richard
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; 1 1 Nicolas Richard
00131914 - - Only affected individual M - France - - - - - PHP1A Subcutaneous calcification (HP:0007618), no hypocalcemia (-HP:0002901), hypothyroidism (HP:0000821); hyperphosphatemia (HP:0002905); 1 1 Nicolas Richard
00131915 - - Only affected individual F no Switzerland - - - - - PHP1A Osteopenia (HP:0000938), asthma (HP:0002099), sleep apnea (HP:0010535), cardiorespiratory arrest (HP:0006543), hypothyroidism (HP:0000821), pseudohypoparathyroidism (HP:0000852); intellectual disability (HP:0001249); round face (HP:0000311); obesity (HP:0001513); brachydactyly (HP:000156); hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); 1 1 Nicolas Richard
00131916 - - - F no France - - - - - PHP1A Pseudohypoparathyroidism (HP:0000852), hypothyroidism (HP:0000821), subcutaneous calcification (HP:0007618); no intellectual disability (-HP:0001249); round face (HP:0000311); brachydactyly, type E (HP:0005863); hyperphosphatemia (HP:0002905); 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) 1 1 Nicolas Richard
00131918 - - Only affected individual M - France - - - - - PHP1A Pseudohypoparathyroidism (HP:0000852), hypothyroidism (HP:0000821), asthma (HP:0002099); intellectual disability (HP:0001249); round face (HP:0000311); brachydactyly, type E (HP:0005863); hyperphosphatemia (HP:0002905); 1 1 Nicolas Richard
00131919 - - - F ? France - - - - - PHP1A Hypothyroidism (HP:0000821); short stature (HP:0004322); growth abnormality (HP:0001507); intellectual disability (HP:0001249); normal onset puberty; round face (HP:0000311); obesity (HP:0001513); brachydactyly, type E (HP:0005863); no ectopic ossification (-HP:0011986); no calcifications; 1 1 Nicolas Richard
00131921 - - - M - (France) - - - - - PHP1A Subcutaneous calcification (HP:0007618), cryptorchidism (HP:0000028), hypothyroidism (HP:0000821), pseudohypoparathyroidism (HP:0000852), global developmental delay (HP:0001263), sagittal craniosynostosis (HP:0004442), gait ataxia (HP:0002066); round face (HP:0000311); brachydactyly, type E (HP:0005863); brain/intracerebral/intracranial calcification (HP:0002514); hypocalcemic seizures (HP:0002199); 1 1 Nicolas Richard
00131925 - - - F - France - - - - - PHP1A Pseudohypoparathyroidism (HP:0000852) 1 1 Nicolas Richard
00131929 - - - - no France - - - - - PHP1A hypothyroidism (HP:0000821); no intellectual disability (-HP:0001249); round face (HP:0000311); brachydactyly, type E (HP:0005863); hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); 2 1 Nicolas Richard
00131932 - - - M - Greece - - - - - PHP1A Low urinary cyclic AMP response to PTH administration (HP:0003456), hypothyroidism (HP:0000821), pseudohypoparathyroidism (HP:0000852); intellectual disability (HP:0001249); round face (HP:0000311); obesity (HP:0001513); brachydactyly (HP:000156); no calcifications; hypercalcemia (HP:0003072); hyperphosphatemia (HP:0002905); 1 1 Nicolas Richard
00131942 - - - M - France - - - - - PHP1A Pseudohypoparathyroidism (HP:0000852), hypothyroidism (HP:0000821); no intellectual disability (-HP:0001249); precocious male puberty (HP:0008185); round face (HP:0000311); obesity (HP:0001513); brachydactyly (HP:000156); accelerated bone age (HP:0002805); no calcifications; no hypercalcemia (-HP:0003072); hyperphosphatemia (HP:0002905); 1 1 Nicolas Richard
00132024 - - - F - France - - - - Levothyroxine, alfacalcidol, calcium, GH PHP1C pseudohypoparathyroidism (HP:0000852), hypothyroidism (HP:0000821); obesity (HP:0001513); delayed puberty (HP:0000853); growth hormone deficiency (HP:0000824) 1 1 Nicolas Richard
00132069 1 - - F no Brazil - - - - - PHP1A - 1 1 Karina Silveira
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 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); 1 3 Arrate Pereda
00144441 - NOT PUBLISHED - F no (Spain) Latino Americans - - - - PPHP short stature (HP:0004322) (<3rd centile); 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); 1 1 Arrate Pereda
00229574 - PubMed: Yakoreva 2019, Journal: Yakoreva 2019 2-generation family, 2 affected sibs (variant on maternal allele); mother has variant on paternal allele causing pseudopseudohypoparathyroidism F - Estonia - - - - - ? see paper; ..., pseudohypoparathyroidism; mother has variant on paternal allele causing pseudopseudohypoparathyroidism 1 3 Sander Pajusalu
00229575 - PubMed: Yakoreva 2019, Journal: Yakoreva 2019 - F - Estonia - - - - - PPHP - 1 1 Sander Pajusalu
00229576 - PubMed: Yakoreva 2019, Journal: Yakoreva 2019 2-generation family, 3 affected sibs; mother has pseudopseudohypoparathyreoidism and variant on paternal allele F - Estonia - - - - - PHP1A see paper; ..., pseudohypoparathyroidism; mother pseudopseudohypoparathyreoidism (variant on paternal allele) 1 4 Sander Pajusalu
00235448 Family A PubMed: Miyado 2019 3-generation family, 3 affected heterozygous carriers (3F) F - Japan - - - - - NPHS see paper; ... 1 3 Johan den Dunnen
00235449 Family B PubMed: Miyado 2019 3-generation family, 3 affected heterozygous carriers (2F) F - Japan - - - - - NPHS see paper; ... 1 2 Johan den Dunnen
00292959 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 112 Mohammed Faruq
00304866 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00307142 Patient 06 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00307260 Patient 75 PubMed: Mendonca 2021 - F - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00331461 13DG0035 PubMed: Maddirevula 2018 isolated case M - - Arab - - - - skeletal dysplasia Metopic synostosis, Hydronephrosis, Gray matter heterotopias, Hypoplasia of the corpus Yes 1 1 LOVD
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