Pseudohypoparathyroidism [pseudohypoparatyreóza]

topical
31
Terms

Albrightova hereditární osteodystrofie s mnohočetnou hormonální rezistencí
pseudohypoparatyreoidismus
pseudohypoparatyreóza typ 1A
pseudohypoparatyreóza typ 1B

 

Albright Hereditary Osteodystrophy
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance
PHD Ib
PHD1b
PHP Ia
PHPIa
Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ib

Persistent link   https://www.medvik.cz/link/D011547
Definition

A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.

Annotation
do not confuse with PSEUDOPSEUDOHYPOPARATHYROIDISM
DUI
D011547 MeSH Browser
CUI
M0017949
History note
65(63)
Public note
65

C Diseases
C05.116 Bone Diseases 796
C05.116.198.371 Mucolipidoses 10
C05.116.198.579 Osteoporosis 3 142
C05.116.198.709 Pseudohypoparathyroidism 31
C05.116.198.709.628 Pseudopseudohypoparathyroidism 6
C05.116.198.816 Rickets 143
C16.320.565.618.337 Hemochromatosis 198
C16.320.565.618.403 Hepatolenticular Degeneration 243
C16.320.565.618.482 Hypophosphatasia 16
C16.320.565.618.544 Hypophosphatemia, Familial 12
C16.320.565.618.590 Menkes Kinky Hair Syndrome 12
C16.320.565.618.711 Paralyses, Familial Periodic 7
C16.320.565.618.815 Pseudohypoparathyroidism 31
C16.320.565.618.815.815 Pseudopseudohypoparathyroidism 6
C18.452 Metabolic Diseases 1 200
C18.452.104.579 Osteoporosis 3 142
C18.452.104.709 Pseudohypoparathyroidism 31
C18.452.104.709.628 Pseudopseudohypoparathyroidism 6
C18.452.104.816 Rickets 143
C18.452.174.130 Calcinosis 381
C18.452.174.451 Hypercalcemia 276
C18.452.174.509 Hypocalcemia 140
C18.452.174.766 Pseudohypoparathyroidism 31
C18.452.174.766.815 Pseudopseudohypoparathyroidism 6
C18.452.174.845 Rickets 143
C18.452.648.618.337 Hemochromatosis 198
C18.452.648.618.403 Hepatolenticular Degeneration 243
C18.452.648.618.482 Hypophosphatasia 16
C18.452.648.618.544 Hypophosphatemia, Familial 12
C18.452.648.618.590 Menkes Kinky Hair Syndrome 12
C18.452.648.618.711 Paralyses, Familial Periodic 7
C18.452.648.618.815 Pseudohypoparathyroidism 31
C18.452.648.618.815.815 Pseudopseudohypoparathyroidism 6

Pseudohypoparathyroidism Type 1C Disease MeSH Browser

Pseudohypoparathyroidism Type 2 Disease MeSH Browser