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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1, also known as hyperostosis-hyperphosphatemia syndrome, is related to hyperostosis and dental pulp calcification. An important gene associated with Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 is GALNT3 (Polypeptide N-Acetylgalactosaminyltransferase 3), and among its related pathways/superpathways are Infectious disease and Signaling by Receptor Tyrosine Kinases. The drugs Salmon calcitonin and Calcitonin gene-related peptide have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are hyperphosphatemia and high serum calcitriol
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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26
210
82

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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