Pseudopseudohypoparathyroidism (PPHP) is an inherited disorder, named for its similarity to pseudohypoparathyroidism in presentation. (wikipedia.org)
Human STK25 is a candidate gene responsible for pseudopseudohypoparathyroidism (PPHP), a disease that shares features with the Albright hereditary osteodystrophy (AHO) phenotype. (umbc.edu)
Pseudohypoparathyroidism type3
The term Pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of Pseudohypoparathyroidism type 1a, but has (unexpected for the phenotype) normal labs including calcium and PTH. (wikipedia.org)
The GNAS1 gene involved in both Pseudohypoparathyroidism type 1a and Pseudopseudohypoparathyroidism is greatly affected by imprinting. (wikipedia.org)
Mutations in GNAS gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. (prosci-inc.com)
Calcium5
citation needed] Pseudopseudohypoparathyroidism and pseudohypoparathyroidism both involve the same GNAS gene, but Pseudopseudohypoparathyroidism has normal calcium homeostasis because of the normal maternal allele in the kidney. (wikipedia.org)
Since the maternally-derived GNAS1 gene is functional, renal handling of calcium and phosphate is normal, and homeostasis is maintained in Pseudopseudohypoparathyroidism. (wikipedia.org)
The recursively named entity of pseudopseudohypoparathyroidism pertains to patients who have the typical appearance of somebody who has type 1a pseudohypoparathyroidism but who have normal parathyroid hormone biochemistry and therefore have normal blood calcium and phosphate levels. (histocutup.co.uk)
The cause of pseudopseudohypoparathyroidism may actually be the same G protein defect as in pseudohypoparathyroidism but for some reason the problems with calcium and phosphate metabolism do not occur (this may reflect the phenomenon of imprinting whereby different genes, or parts of genes, are methylated differently depending on whether the gene was inherited from the mother or the father). (histocutup.co.uk)
Pseudopseudohypoparathyroidism is so called because it seems like pseudohypoparathyroidism in that both are disorders resulting in symptoms such as inadequate skeletal growth and shortness, but pseudohypoparathyroidism is caused by resistance to calcium and phosphorus, while pseudopseudohypoparathyroidism is not. (bananagrammer.com)
Word1
However, the word "pseudopseudohypoparathyroidism" requires more P tiles than we have. (bananagrammer.com)
Resistance1
Pseudopseudohypoparathyroidism can be best understood by comparing it to other conditions: Hormone resistance is not present in Pseudopseudohypoparathyroidism. (wikipedia.org)
Problems1
Because of your thyroid problems, look up pseudopseudohypoparathyroidism. (dwmommy.com)
Pseudohypoparathyroidism type 1a3
The term Pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of Pseudohypoparathyroidism type 1a, but has (unexpected for the phenotype) normal labs including calcium and PTH. (wikipedia.org)
The GNAS1 gene involved in both Pseudohypoparathyroidism type 1a and Pseudopseudohypoparathyroidism is greatly affected by imprinting. (wikipedia.org)
Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. (nih.gov)
Paternal1
Any of his daughters that have Pseudopseudohypoparathyroidism may in turn pass along Pseudohypoparathyroidism 1A to her children as the imprinting pattern on the inherited paternal gene will be changed to the maternal pattern in the mother's ovum during meiosis. (wikipedia.org)