about
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho)Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features.Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis.Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activityHyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis.Angioid streaks and optic nerve head drusen in hyperphosphatemic familial tumoral calcinosis.FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients.Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanismsHyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in Gene: Experience from Southern TurkeyNovel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis
P921
Q26827280-6204E83C-CECD-4CBC-84E8-B57648318808Q34273172-81A7566E-645C-4357-BE68-678A64D70437Q35533372-12BB450E-F713-4D75-AD44-2A4D9A6ED01CQ36269009-8EBB8B05-7C16-49D3-811E-96D809EE994AQ37401244-905AD5C9-B85F-416B-942F-4BBA93FC8AC9Q38345898-B9CD88A8-4BFC-417D-8855-CDEB84B13BF9Q38353574-7A5FED9C-B692-431E-B23E-0BD6CCC7B853Q39482366-374850C2-094D-4A47-A6EE-0A3E3D56853FQ39779569-F91C46E4-4689-4854-82A9-A0F2F3F7187CQ45018105-EE1B0AB4-D836-4AB3-BB24-5C45F5AAF475Q46061857-2ED04DBD-AD46-4AEA-8480-151B1A38345DQ52868928-0D993B07-9464-4391-B878-3F9858323EEAQ57216982-3041862E-9D02-46FF-9A6A-33AC87CCC3E1Q64235821-EA8B8FB2-E81E-459E-B137-5F2A58D50CF7Q83469034-673352AC-79D8-4FEA-B0E0-21F25E53011A
P921
description
human disease
@en
name
calcinose tumorale hypercalcémique
@fr
hyperphosphatemic familial tumoral calcinosis
@en
type
label
calcinose tumorale hypercalcémique
@fr
hyperphosphatemic familial tumoral calcinosis
@en
altLabel
HFTC
@en
HHS
@en
PHPTC
@en
cortical hyperostosis with hyperphosphatemia
@en
familial Teutschlaender disease
@en
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
@en
hypercalcemic tumoral calcinosis
@en
hyperostosis with hyperphosphatemia
@en
hyperphosphatemia hyperostosis syndrome
@en
hyperphosphatemia hyperostosis
@en
prefLabel
calcinose tumorale hypercalcémique
@fr
hyperphosphatemic familial tumoral calcinosis
@en
P279
P2888
P1550
P1748
P1995
P31
P4229
P4317
P492
P699
DOID:0111063
P7464
hyperphosphatemic-familial-tumoral-calcinosis