HPT, hypoparathyroidism, 3258

N. diseases: 71; N. variants: 0
Disease: Familial Isolated Hyperparathyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		0.020 Biomarker disease BEFREE Hereditary hyperparathyroidism has been reported to occur in 5-10 % of cases of primary hyperparathyroidism in the context of multiple endocrine neoplasia (MEN) types 1, 2A and 4; hyperparathyroidism-jaw tumour (HPT-JT); familial isolated hyperparathyroidism (FIHPT); familial hypocalciuric hypercalcaemia (FHH); neonatal severe hyperparathyroidism (NSHPT) and autosomal dominant moderate hyperparathyroidism (ADMH). 26450137 2015
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		0.020 GeneticVariation disease BEFREE Taken together, the results suggest that some of the FIHP are a variant of HPT-JT and that the gene involved is a tumor suppressor gene. 9626148 1998