Details of Disease

General Information of Disease (ID: DISL1J2S)

Disease Name Tumoral calcinosis, hyperphosphatemic, familial, 1
Synonyms
HFTC; tumoral calcinosis, Hyperphosphatemic, familial, 1; Teutschlaender disease, familial; HFTC1; calcinosis, tumoral, with hyperphosphatemia; hyperostosis-hyperphosphatemia syndrome; Morbus Teutschlaender; tumoral calcinosis, hyperphosphatemic, familial, 1; tumoral calcinosis, primary Hyperphosphatemic; tumoral calcinosis, hyperphosphatemic, familial; tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1
Disease Hierarchy
DISYJZKG: Familial tumoral calcinosis
DISL1J2S: Tumoral calcinosis, hyperphosphatemic, familial, 1
Disease Identifiers
MONDO ID
MONDO_0100252
UMLS CUI
C4692564
OMIM ID
211900
MedGen ID
1642611

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FGF23 TT2IZ4K Strong GermlineCausalMutation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KL OTD4VWU6 Strong Biomarker [2]
GALNT3 OT7M67WT Definitive Autosomal recessive [3]
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References

1 Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and Klotho).Best Pract Res Clin Rheumatol. 2011 Oct;25(5):735-47. doi: 10.1016/j.berh.2011.10.020.
2 N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models.PLoS One. 2015 Apr 10;10(4):e0122650. doi: 10.1371/journal.pone.0122650. eCollection 2015.
3 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.