Pseudopseudohypoparathyroidism
Classification according to ICD-10 | |
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M85 | Other changes in bone density and structure |
ICD-10 online (WHO version 2019) |
Under the pseudopseudohypoparathyroidism (pseudo PHP) refers to the appearance of characteristics of hereditary Albright osteodystrophy without disturbance of the calcium metabolism .
This disease was first described by Albright in 1952. It is associated with an inactivating mutation in the GNAS1 gene, which codes for the alpha subunit of the G protein , or a reduction in the activity or a reduction in the concentration of the Gsα protein.
See also
literature
- K. Kruse: New Aspects of Hypoparathyroidism and Pseudohypoparathyroidism in Childhood and Adolescence. In: Monthly Pediatric Medicine, 1997, 145, pp. 1264-1280. doi: 10.1007 / s001120050224
Individual evidence
- ↑ enzyklopaedie-dermatologie.de accessed on May 22, 2016