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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 (HFTC1)
Alias:
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。
Related ID:
MALACARDS:TMR018
OMIM:211900
MESH:D002114
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
26
210
82
TMR018
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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