MCID: FML091
MIFTS: 34

Familial Tumoral Calcinosis malady

Genetic diseases, Rare diseases, Cancer diseases categories
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Summaries for Familial Tumoral Calcinosis

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Wikipedia:65 Normophosphatemic familial tumoral calcinosis is a cutaneous disorder characterized by cutaneous... more...

MalaCards based summary: Familial Tumoral Calcinosis is related to hyperphosphatemic familial tumoral calcinosis and calcinosis. An important gene associated with Familial Tumoral Calcinosis is FGF23 (fibroblast growth factor 23), and among its related pathways are FGFR ligand binding and activation and Calcineurin-regulated NFAT-dependent transcription in lymphocytes. The compounds hydroxyapatite and tpck have been mentioned in the context of this disorder. Affiliated tissues include heart and skin, and related mouse phenotypes are limbs/digits/tail and skeleton.

Aliases & Classifications for Familial Tumoral Calcinosis

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Familial Tumoral Calcinosis, Aliases & Descriptions:

Name: Familial Tumoral Calcinosis 42


Classifications:

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


Related Diseases for Familial Tumoral Calcinosis

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



Diseases related to familial tumoral calcinosis

Symptoms for Familial Tumoral Calcinosis

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Drugs & Therapeutics for Familial Tumoral Calcinosis

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Drug clinical trials:

Search ClinicalTrials for Familial Tumoral Calcinosis

Search NIH Clinical Center for Familial Tumoral Calcinosis

Genetic Tests for Familial Tumoral Calcinosis

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Anatomical Context for Familial Tumoral Calcinosis

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MalaCards organs/tissues related to Familial Tumoral Calcinosis:

32
Heart, Skin

Animal Models for Familial Tumoral Calcinosis or affiliated genes

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MGI Mouse Phenotypes related to Familial Tumoral Calcinosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1TNF, KL, GALNT3, FGF23
2MP:00053908.5FGF23, EGR1, GALNT3, KL, TNF
3MP:00107718.4TNF, KL, GALNT3, EGR1, FGF23
4MP:00053858.4FGF23, EGR1, GALNT3, KL, TNF
5MP:00053898.1TNF, KL, GALNT3, EGR1, FGF23

Publications for Familial Tumoral Calcinosis

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Articles related to Familial Tumoral Calcinosis:

(show all 46)
idTitleAuthorsYear
1
Familial tumoral calcinosis. (25351424)
2014
2
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis. (25351881)
2014
3
Nicotinamide treatment in a murine model of familial tumoral calcinosis reduces serum Fgf23 and raises heart calcium. (25007710)
2014
4
High dietary phosphate intake induces development of ectopic calcifications in a murine model of familial tumoral calcinosis. (24692172)
2014
5
Familial tumoral calcinosis: a valuable vehicle for discovery. (25147226)
2014
6
Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms. (24668887)
2014
7
Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature. (25249269)
2014
8
Familial Tumoral Calcinosis with dento-alveolar anomalies: clinico-pathological findings and Confocal Laser Scanning Microscopy of hard and soft tissues lesions. (24353776)
2013
9
Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis. (22716256)
2012
10
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and I+Klotho). (22142751)
2011
11
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. (21347749)
2011
12
Familial tumoral calcinosis in two Chinese patients: a case series. (21854601)
2011
13
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. (21160498)
2011
14
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. (19830424)
2010
15
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. (19865099)
2010
16
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. (20358599)
2010
17
An ocular presentation of familial tumoral calcinosis. (22778290)
2010
18
Familial tumoral calcinosis. (21290017)
2010
19
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. (18976705)
2009
20
Genetics of familial tumoral calcinosis. (19231744)
2009
21
Familial tumoral calcinosis: a forty-year follow-up on one family. (19255228)
2009
22
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. (19013236)
2009
23
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
24
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. (18982401)
2009
25
Angioid streaks and optic nerve head drusen in hyperphosphatemic familial tumoral calcinosis. (25390839)
2009
26
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. (18094730)
2008
27
Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. (18682534)
2008
28
SAMD9 mutation in normophosphatemic familial tumoral calcinosis]. (17507861)
2007
29
Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. (17351710)
2007
30
Two novel GALNT3 mutations in familial tumoral calcinosis. (17853462)
2007
31
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. (16960814)
2006
32
Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3. (16871046)
2006
33
Familial tumoral calcinosis with hyperphosphatemia is heterogeneous and associated with mutations in GALNT3 or FGF-23]. (16733465)
2006
34
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. (16638743)
2006
35
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. (16528452)
2006
36
Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. (15961556)
2005
37
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis. (15900124)
2005
38
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. (15687325)
2005
39
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. (15590700)
2005
40
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. (16151858)
2005
41
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. (15599692)
2005
42
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. (15133511)
2004
43
A case of familial tumoral calcinosis in a neonate and review of the literature. (15340747)
2004
44
Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation. (10379593)
1999
45
Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis. (8338191)
1993
46
Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis. (3839626)
1985

Variations for Familial Tumoral Calcinosis

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Expression for genes affiliated with Familial Tumoral Calcinosis

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Expression patterns in normal tissues for genes affiliated with Familial Tumoral Calcinosis

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Pathways for genes affiliated with Familial Tumoral Calcinosis

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Compounds for genes affiliated with Familial Tumoral Calcinosis

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Sources:
44Novoseek, 61Tocris Bioscience, 24HMDB, 11DrugBank
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Compounds related to Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hydroxyapatite449.4FGF23, EGR1
2tpck449.4EGR1, TNF
3l-nmma449.3TNF, EGR1
4manganese superoxide449.2EGR1, TNF
5calcitriol44 61 24 1112.2FGF23, EGR1, TNF
615-deoxy-delta-12,14-prostaglandin j2449.0EGR1, TNF

GO Terms for genes affiliated with Familial Tumoral Calcinosis

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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
2negative regulation of osteoblast differentiationGO:0456689.6FGF23, TNF
3positive regulation of neuron apoptotic processGO:0435259.3EGR1, TNF

Products for genes affiliated with Familial Tumoral Calcinosis

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Sources for Familial Tumoral Calcinosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet