MCID: FML091
MIFTS: 32

Familial Tumoral Calcinosis malady

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

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65Wikipedia, 33MalaCards
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Wikipedia:65 Normophosphatemic familial tumoral calcinosis is a cutaneous disorder characterized by cutaneous... more...

MalaCards: Familial Tumoral Calcinosis is related to calcinosis and hyperphosphatemic familial tumoral 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 skin, and related mouse phenotypes are limbs/digits/tail and skeleton.

Aliases & Classifications for Familial Tumoral Calcinosis

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43NIH Rare Diseases
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Classifications:

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


Aliases & Descriptions:

familial tumoral calcinosis 43


Related Diseases for Familial Tumoral Calcinosis

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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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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33MalaCards
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MalaCards organs/tissues related to Familial Tumoral Calcinosis:

33
Skin

Animal Models for Familial Tumoral Calcinosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Familial Tumoral Calcinosis:

37
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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52PubMed
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Articles related to Familial Tumoral Calcinosis:

(show all 39)
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
SAMD9 mutation in normophosphatemic familial tumoral calcinosis]. (17507861)
2007
21
Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. (17351710)
2007
22
Two novel GALNT3 mutations in familial tumoral calcinosis. (17853462)
2007
23
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. (16960814)
2006
24
Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3. (16871046)
2006
25
Familial tumoral calcinosis with hyperphosphatemia is heterogeneous and associated with mutations in GALNT3 or FGF-23]. (16733465)
2006
26
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. (16638743)
2006
27
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. (16567474)
2006
28
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. (16528452)
2006
29
Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. (15961556)
2005
30
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis. (15900124)
2005
31
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. (15687325)
2005
32
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. (15590700)
2005
33
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. (16151858)
2005
34
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. (15599692)
2005
35
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. (15133511)
2004
36
A case of familial tumoral calcinosis in a neonate and review of the literature. (15340747)
2004
37
Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation. (10379593)
1999
38
Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis. (8338191)
1993
39
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 55Reactome, 60Thomson Reuters, 38NCBI BioSystems Database
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Compounds for genes affiliated with Familial Tumoral Calcinosis

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45Novoseek, 61Tocris Bioscience, 24HMDB, 11DrugBank
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Compounds related to Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hydroxyapatite459.4FGF23, EGR1
2tpck459.4EGR1, TNF
3l-nmma459.3TNF, EGR1
4manganese superoxide459.2EGR1, TNF
5calcitriol45 61 24 1112.2FGF23, EGR1, TNF
615-deoxy-delta-12,14-prostaglandin j2459.0EGR1, TNF

GO Terms for genes affiliated with Familial Tumoral Calcinosis

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16Gene Ontology
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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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet