As nouns the difference between pseudohypoparathyroidism and pseudopseudohypoparathyroidism is that pseudohypoparathyroidism is (label) a condition caused by resistance to the parathyroid hormone while pseudopseudohypoparathyroidism is (medicine) a mild inherited condition in which the sufferer has symptoms similar to those of pseudohypoparathyroidism. The gene will be reactivated in any children who inherit it. Any of his children receiving this gene will have pseudopseudohypoparathyroidism. Tissues in the body will re-activate different copies of the GNAS1 gene selectively; the kidneys will selectively activate the (functional) maternal copy while keeping the (defective) paternally-derived gene imprinted and inactive, even in normal individuals. All Rights Reserved. Statement of Support for Black Lives Matter, Colleges’ Opening Fueled 3,000 COVID Cases a Day, Researchers Say. Transmission of GNAS mutations from the father is the mechanism of the disease. The gene will be reactivated in any children who inherit it. It is more properly Albright hereditary osteodystrophy although without resistance of parathyroid hormone frequently seen in that affliction. The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the … [10], It was characterized in 1952 by Fuller Albright as "pseudo-pseudohypoparathyroidism" (with hyphen). As a result, there is also a normal response of urinary cAMP to PTH, and normal serum PTH. Copyright © 1999-2020 CRG, a 501(c)3 nonprofit organization. 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.[2]. Pseudopseudohypoparathyroidism can be best understood by comparing it to other conditions: Hormone resistance is not present in pseudopseudohypoparathyroidism. Obesity is less common in pseudopseudohypoparathyroidism than in pseudohypoparathyroidism. X-rays may reveal a short fourth metacarpal. Genetic testing can confirm the diagnosis by showing GNAS gene mutation. The GNAS1 gene involved in both pseudohypoparathyroidism type 1a and pseudopseudohypoparathyroidism is greatly affected by imprinting. The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the … Genetic testing can confirm the diagnosis by showing GNAS gene mutation. 21, No. The source code for the WIKI 2 extension is being checked by specialists of the Mozilla Foundation, Google, and Apple. Any of his children receiving this gene will have pseudopseudohypoparathyroidism. Metabolic bone disease in pseudohypoparathyroidism: radiologic features. It is more properly Albright hereditary osteodystrophy although without resistance of parathyroid hormone frequently seen in that affliction. Thanks in advance for your help! [11][12], Last edited on 16 September 2020, at 18:33, "Pseudopseudohypoparathyroidism | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program", Journal of Endocrinological Investigation, "Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity", "Osteoma cutis as the presenting feature of albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism", "Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans", https://en.wikipedia.org/w/index.php?title=Pseudopseudohypoparathyroidism&oldid=978747224, Creative Commons Attribution-ShareAlike License, This page was last edited on 16 September 2020, at 18:33. Pseudopseudohypoparathyroidism (PPHP) is an inherited disorder,[1] named for its similarity to pseudohypoparathyroidism in presentation. I use WIKI 2 every day and almost forgot how the original Wikipedia looks like.
Deficiencies of intracellular signaling peptides and proteins. Would you like Wikipedia to always look as professional and up-to-date? [6] Osteoma cutis may be present.[7].

[5] Short stature may be present. JavaScript is disabled. You must log in or register to reply here. Tissues in the body will re-activate different copies of the GNAS1 gene selectively; the kidneys will selectively activate the (functional) maternal copy while keeping the (defective) paternally-derived gene imprinted and inactive, even in normal individuals. Pseudopseudohypoparathyroidism and pseudohypoparathyroidism both involve the same GNAS gene,[8] but pseudopseudohypoparathyroidism has normal calcium homeostasis because of the normal maternal allele in the kidney.[9].
[6] Osteoma cutis may be present.[7]. Pathology Subtypes.