MCID: FML091
MIFTS: 25

Familial Tumoral Calcinosis malady

Cancer, Genetic categories

Summaries for Familial Tumoral Calcinosis

Sources:
64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 Normophosphatemic familial tumoral calcinosis is a cutaneous disorder characterized by cutaneous... more...

MalaCards: Familial Tumoral Calcinosis is related to hyperphosphatemic familial tumoral calcinosis and hyperphosphatemia. An important gene associated with Familial Tumoral Calcinosis is FGF23 (fibroblast growth factor 23), and among its related pathways are FGFR2c ligand binding and activation and FGFR1c and Klotho ligand binding and activation. The compounds calcitriol and tpck have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are limbs/digits/tail and skeleton.

Aliases & Classifications for Familial Tumoral Calcinosis

Sources:
43NIH Rare Diseases
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer, Genetic


Aliases & Descriptions:

familial tumoral calcinosis 43


Related Diseases for Familial Tumoral Calcinosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Familial Tumoral Calcinosis:



Diseases related to familial tumoral calcinosis

Clinical Features for Familial Tumoral Calcinosis

Drugs & Therapeutics for Familial Tumoral Calcinosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Familial Tumoral Calcinosis

Drug clinical trials:

Search ClinicalTrials for Familial Tumoral Calcinosis

Search NIH Clinical Center for Familial Tumoral Calcinosis

Search CenterWatch for Familial Tumoral Calcinosis

Genetic Tests for Familial Tumoral Calcinosis

Anatomical Context for Familial Tumoral Calcinosis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Familial Tumoral Calcinosis:

33
Skin

Animal Models for Familial Tumoral Calcinosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Familial Tumoral Calcinosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2FGF23, GALNT3, TNF, KL
2MP:00053908.7FGF23, EGR1, GALNT3, TNF, KL
3MP:00107718.5KL, TNF, GALNT3, EGR1, FGF23

Publications for Familial Tumoral Calcinosis

Sources:
51PubMed
See all sources

Articles related to Familial Tumoral Calcinosis:

(show all 41)
idTitleAuthorsYear
1
Familial Tumoral Calcinosis with dento-alveolar anomalies: clinico-pathological findings and Confocal Laser Scanning Microscopy of hard and soft tissues lesions. (24353776)
2013
2
Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis. (22716256)
2012
3
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and I+Klotho). (22142751)
2011
4
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. (21347749)
2011
5
Familial tumoral calcinosis in two Chinese patients: a case series. (21854601)
2011
6
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. (21160498)
2011
7
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. (19830424)
2010
8
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. (19865099)
2010
9
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. (20358599)
2010
10
An ocular presentation of familial tumoral calcinosis. (22778290)
2010
11
Familial tumoral calcinosis. (21290017)
2010
12
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. (18976705)
2009
13
Genetics of familial tumoral calcinosis. (19231744)
2009
14
Familial tumoral calcinosis: a forty-year follow-up on one family. (19255228)
2009
15
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. (19013236)
2009
16
Familial tumoral calcinosis caused by a novel FGF23 mutation: response to induction of tubular renal acidosis with acetazolamide and the non-calcium phosphate binder sevelamer. (19188744)
2009
17
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. (18982401)
2009
18
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. (18094730)
2008
19
Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. (18682534)
2008
20
Tumoral calcinosis: new insights for the rheumatologist into a familial crystal deposition disease. (17531178)
2007
21
SAMD9 mutation in normophosphatemic familial tumoral calcinosis]. (17507861)
2007
22
Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. (17351710)
2007
23
Two novel GALNT3 mutations in familial tumoral calcinosis. (17853462)
2007
24
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. (16960814)
2006
25
Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3. (16871046)
2006
26
Familial tumoral calcinosis with hyperphosphatemia is heterogeneous and associated with mutations in GALNT3 or FGF-23]. (16733465)
2006
27
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. (16638743)
2006
28
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. (16567474)
2006
29
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. (16528452)
2006
30
Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. (15961556)
2005
31
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis. (15900124)
2005
32
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. (15687325)
2005
33
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. (15590700)
2005
34
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. (16151858)
2005
35
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. (15599692)
2005
36
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. (15133511)
2004
37
A case of familial tumoral calcinosis in a neonate and review of the literature. (15340747)
2004
38
Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation. (10379593)
1999
39
Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis. (9113957)
1997
40
Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis. (8338191)
1993
41
Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis. (3839626)
1985

Genetic Variations for Familial Tumoral Calcinosis

Expression for genes affiliated with Familial Tumoral Calcinosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Familial Tumoral Calcinosis

Search GEO for disease gene expression data for Familial Tumoral Calcinosis.

Pathways for genes affiliated with Familial Tumoral Calcinosis

Sources:
54Reactome
See all sources

Compounds for genes affiliated with Familial Tumoral Calcinosis

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB
See all sources

Compounds related to Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcitriol45 60 11 2412.5FGF23, EGR1, TNF
2tpck459.4EGR1, TNF

GO Terms for genes affiliated with Familial Tumoral Calcinosis

Sources:
16Gene Ontology
See all sources

Biological processes related to Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.8FGF23, KL
2positive regulation of neuron apoptotic processGO:0435259.7EGR1, TNF
3negative regulation of osteoblast differentiationGO:0456689.6FGF23, TNF

Products for genes affiliated with Familial Tumoral Calcinosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Tumoral Calcinosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet