hyperphosphatemic familial tumoral calcinosis

Summary
Synonym
  • HFTC
  • HHS
  • PHPTC
  • cortical hyperostosis with hyperphosphatemia
  • familial Teutschlaender disease
  • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
  • hypercalcemic tumoral calcinosis
  • hyperostosis with hyperphosphatemia
  • hyperphosphatemia hyperostosis
  • hyperphosphatemia hyperostosis syndrome
  • hyperphosphatemia tumoral calcinosis
  • lipocalcinogranulomatosis
  • morbus Teutschlaender
  • primary hyperphosphatemic tumoral calcinosis
  • tumoral calcinosis with hyperphosphatemia
Definition
A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.
Super Class
autosomal recessive disease calcinosis inherited metabolic disorder
Disease Ontology
DOID:0111063
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2591 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
2804 GOLGB1 golgin B1
9365 KL klotho
Displaying all 2 entries
Gene ID Gene Symbol Description Source
14425 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3
16591 Kl klotho
Displaying all 2 entries
Gene ID Gene Symbol Description Source
83504 Kl Klotho
366061 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3
Displaying all 2 entries
Gene ID Gene Symbol Description Source
35627 Pgant3 Polypeptide N-Acetylgalactosaminyltransferase 3
36717 Pgant1 Polypeptide N-Acetylgalactosaminyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
100331984 galnt3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100488466 galnt3 polypeptide N-acetylgalactosaminyltransferase 3 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
177557 klo-1 Glycoside hydrolase family 1 protein
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q14435 Polypeptide N-acetylgalactosaminyltransferase 3
The Human Phenotype Ontology
Displaying entries 1 - 10 of 17 in total
HPO ID HPO Term
HP:0003155 Elevated circulating alkaline phosphatase concentration
HP:0007799 Conjunctival whitish salt-like deposits
HP:0000843 Hyperparathyroidism
HP:0004934 Vascular calcification
HP:0000121 Nephrocalcinosis
HP:0003761 Calcinosis
HP:0005572 Decreased renal tubular phosphate excretion
HP:0002905 Hyperphosphatemia
HP:0000007 Autosomal recessive inheritance
HP:0003771 Pulp calcification
Displaying 1 entry
Gene ID Gene Symbol Description
2591 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024