Pseudopseudohypoparathyroidism (PPHP)

Alias:

Albright Hereditary Osteodystrophy-Pphp Syndrome

Aho-Pphp Syndrome

Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance

Normocalcemic Pseudohypoparathyroidism

Pseudo-Pseudohypoparathyroidism

Pseudohypoparathyroidism

Pphp

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pseudopseudohypoparathyroidism, also known as albright hereditary osteodystrophy-pphp syndrome, is related to pseudohypoparathyroidism and osteitis fibrosa. An important gene associated with Pseudopseudohypoparathyroidism is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are short stature and short 4th metacarpal

Related ID：

MALACARDS：PSD014

OMIM：612463

MESH：D011556