Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 (HFTC1)

家族性高磷血性瘤状软组织钙化症1型(来自ICD-11)

别称:

Hyperostosis-Hyperphosphatemia Syndrome

Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome

Hyperphosphatemic Familial Tumoral Calcinosis

Hftc

Cortical Hyperostosis with Hyperphosphatemia

Primary Hyperphosphatemic Tumoral Calcinosis

Hyperostosis with Hyperphosphatemia

Lipocalcinogranulomatosis

Morbus Teutschlaender

Phptc

Hhs

Tumoral Calcinosis, Hyperphosphatemic, Familial

Hyperphosphatemia Hyperostosis Syndrome

Hyperphosphatemia Tumoral Calcinosis

Hypercalcemic Tumoral Calcinosis

Hyperphosphatemia Hyperostosis

Hftc1

Familial Tumoral Calcinosis/hyperostosis-Hyperphosphatemia Syndrome

Familial Tumoral Calcinosis with Hyperphosphatemia

Calcinosis, Tumoral, Hyperphosphatemic, Familial

Tumoral Calcinosis, Primary Hyperphosphatemic

Tumoral Calcinosis Primary Hyperphosphatemic

Calcinosis, Tumoral, with Hyperphosphatemia

Tumoral Calcinosis with Hyperphosphatemia

Teutschlaender Disease, Familial

Familial Teutschlaender Disease

Teutschlaender Disease

Tumoral Calcinosis

Ftc/hhs

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

肿瘤性钙化病，高磷血症，家族性1型，也称为增生高磷血症综合症，与增生和牙髓钙化有关。与肿瘤性钙化病，高磷血症，家族性1型相关的基因是GALNT3（寡聚糖N-乙酰半乳糖胺转移酶3），其相关通路/超级通路包括传染病和受体酪氨酸激酶信号传导。在该疾病的背景下，已提到的药物有鲑鱼降钙素和降钙素基因相关肽。附属组织包括骨和皮肤，相关表型为高磷血症和高血清骨化三醇。

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