MCID: FML091
MIFTS: 31

Familial Tumoral Calcinosis malady

Genetic diseases, Rare diseases, Skin diseases, Metabolic diseases, Endocrine diseases, Cancer diseases categories

Aliases & Classifications for Familial Tumoral Calcinosis

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Familial Tumoral Calcinosis:

Name: Familial Tumoral Calcinosis 45 51
Hypercalcemic Tumoral Calcinosis 51
 
Tumoral Calcinosis 65
Galnt3-Cdg 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
familial tumoral calcinosis:
Inheritance: Autosomal recessive


External Ids:

Orphanet51 306661
ICD10 via Orphanet28 M11.2

Summaries for Familial Tumoral Calcinosis

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MalaCards based summary: Familial Tumoral Calcinosis, also known as hypercalcemic tumoral calcinosis, is related to tumoral calcinosis, hyperphosphatemic, familial and tumoral calcinosis. An important gene associated with Familial Tumoral Calcinosis is FGF23 (Fibroblast Growth Factor 23), and among its related pathways is Downstream signaling in naive CD8+ T cells. Affiliated tissues include skin and heart, and related mouse phenotypes are other and limbs/digits/tail.

Related Diseases for Familial Tumoral Calcinosis

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Diseases in the Tumoral Calcinosis family:

familial tumoral calcinosis

Diseases related to Familial Tumoral Calcinosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1tumoral calcinosis, hyperphosphatemic, familial31.2FGF23, GALNT3, KL
2tumoral calcinosis11.0
3calcinosis11.0
4tumoral calcinosis, familial, normophosphatemic10.5
5hyperphosphatemia10.5
6hyperostosis10.5
7hyperphosphatemic familial tumoral calcinosis, fgf23-related10.4
8hyperphosphatemic familial tumoral calcinosis, galnt3-related10.4
9hyperphosphatemic familial tumoral calcinosis, kl-related10.4
10testicular microlithiasis10.2
11dentin dysplasia10.2
12angioid streaks10.2
13cerebritis10.2
14osteomyelitis10.2
15chronic recurrent multifocal osteomyelitis10.2
16aneurysm10.2
17candidiasis10.2FGF23, GALNT3
18ladd syndrome10.1FGF23, GALNT3
19opsismodysplasia10.1FGF23, PHEX
20hypophosphatemic rickets, autosomal dominant10.1FGF23, PHEX
21idiopathic panuveitis10.1FGF23, PHEX
22onychocytic matricoma10.1FGF23, PHEX
23entropion10.1FGF23, PHEX
24proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis10.1FGF23, PHEX
25marcus gunn phenomenon10.0FGF23, PHEX
26hypervitaminosis a10.0FGF23, GALNT3, KL
27glycogen storage disease, type ixa110.0FGF23, PHEX
28loeys-dietz syndrome10.0FGF23, GALNT3, KL
29metaphyseal dysplasia10.0FGF23, PHEX
30neuroectodermal tumor10.0FGF23, PHEX
31hyperparathyroidism10.0FGF23, GALNT3
32rh deficiency syndrome10.0FGF23, GALNT3, PHEX
33mite infestation10.0FGF23, GALNT3, PHEX
34pediatric intraocular retinoblastoma9.9FGF23, PHEX
35mononeuritis9.8EGR1, TNF
36physical disorder9.8FGF23, GALNT3, KL, PHEX
37calcium metabolism disease9.4FGF23, GALNT3, KL, PHEX, RGL2, SAMD9
38familial visceral myopathy with external ophthalmoplegia8.7EGR1, FGF23, GALNT3, KL, PHEX, POMGNT2
39focal myositis8.7EGR1, FGF23, GALNT3, KL, PHEX, POMGNT2

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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Drugs for Familial Tumoral Calcinosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Salmon Calcitoninapproved, investigationalPhase 24847931-85-116129616
Synonyms:
135506-95-5
47931-85-1
Astronin
Biocalcin
Bionocalcin
C028815
C06865
C145H239N43O48S2
CALCITONIN, SALMON
Cadens
Calciben
Calcihexal
Calcimar
Calcimar (TN)
Calcimonta
Calcinil
Calcioton
Calcitonin (Salmon Synthetic)
Calcitonin (salmon)
Calcitonin 1 precursor
Calcitonin Salmon
Calcitonin [USAN:INN:BAN:JAN]
Calcitonin salmon
Calcitonin salmon (USAN/INN)
Calcitonin salmon (synthesis)
Calcitonin salmon (synthesis) (JAN)
Calcitonin vom lachs
Calcitonin, salmar
Calcitonin, salmon
Calcitonin, salmon, for bioassay
Calcitonin,salmon
Calcitonin-salmon
Calcitonina
Calcitonine de saumon
Calcitoran
Calco
Calogen
Calsynar
Calsynar Lyo L
Caltine
Casalm
Catonin
Cibacalcin
Cibacalcine
Citonina
 
D00249
EINECS 256-342-8
Eptacalcin
Forcaltonin
Fortical
Fortical (TN)
Ipocalcin
Isi-calcin
Kalsimin
Karil
LS-48624
Miacalcic
Miacalcin
Miacalcin (TN)
Miracalcic
Oseototal
Osseocalcina
Osteobion
Osteovis
Ostosalm
Ostostabil
Porostenina
Prontocalcin
Quosten
Riostin
Rulicalcin
Salcat
Salcatonin
Salcatyn
Salmocalcin
Salmofar
Salmon calcitonin
Salmon calcitonin I
Salmon calcitonin-(I-32)
Salmotonin
Sical
Stalcin
Staporos
Steocin
TZ-CT
Thyrocalcitonin (salmon)
Tonocalcin
UNII-7SFC6U2VI5
Ucecal
recombinant salmon calcitonin
salmon calcitonin (1-32)
synthetic salmon calcitonin
2Calcitonin Gene-Related PeptidePhase 248
3calcitoninPhase 248
4sodium thiosulfatePhase 228
5
Sevelamerapproved69152751-57-03085017
Synonyms:
Renagel
Renvela
Sevelamer
Sevelamer Carbonate
 
Sevelamero
Sevelamerum
Sévélamer
sevelamer carbonate
sevelamer hydrochloride
6
Alfacalcidolapproved, nutraceutical4041294-56-85282181
Synonyms:
(5Z,7e)-9,10-Seco-5,7,10(19)-cholestatrien-1alpha,3beta-diol
1-Hydroxycholecalciferol
1-hydroxycholecalciferol
1alpha-Hydroxy-vitamin D3
 
1alpha-hydroxycholecalciferol
1alpha-hydroxyvitamin D3
9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta-diol
Alfacalcidolum
Alsiodol
7Hydroxycholecalciferols88

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase II Study of Calcitonin for Tumoral CalcinosisCompletedNCT00004358Phase 2
2Topical Sodium Thiosulfate and Fractional Carbon Dioxide Laser in Treating Dermatomyositis Associated CalcinosisRecruitingNCT01572844Phase 2
3Evaluation and Treatment of Skeletal DiseasesRecruitingNCT00024804
4Hypophosphatemic Rickets in NorwayActive, not recruitingNCT01057186

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:

33
Skin, Heart

Animal Models for Familial Tumoral Calcinosis or affiliated genes

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MGI Mouse Phenotypes related to Familial Tumoral Calcinosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.0GALNT3, KL, PHEX
2MP:00053718.2FGF23, GALNT3, KL, PHEX, TNF
3MP:00053818.1FGF23, GALNT3, KL, PHEX, TNF
4MP:00053898.1EGR1, FGF23, GALNT3, KL, TNF
5MP:00107717.8EGR1, FGF23, GALNT3, KL, TNF
6MP:00053907.7EGR1, FGF23, GALNT3, KL, PHEX, TNF

Publications for Familial Tumoral Calcinosis

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Articles related to Familial Tumoral Calcinosis:

(show all 50)
idTitleAuthorsYear
1
Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action. (25656441)
2015
2
Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). (26337219)
2015
3
Familial tumoral calcinosis. (25351424)
2014
4
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis. (25351881)
2014
5
Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features. (25537063)
2014
6
Nicotinamide treatment in a murine model of familial tumoral calcinosis reduces serum Fgf23 and raises heart calcium. (25007710)
2014
7
High dietary phosphate intake induces development of ectopic calcifications in a murine model of familial tumoral calcinosis. (24692172)
2014
8
Familial tumoral calcinosis: a valuable vehicle for discovery. (25147226)
2014
9
Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms. (24668887)
2014
10
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
11
Familial Tumoral Calcinosis with dento-alveolar anomalies: clinico-pathological findings and Confocal Laser Scanning Microscopy of hard and soft tissues lesions. (24353776)
2013
12
Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis. (22716256)
2012
13
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and I+Klotho). (22142751)
2011
14
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. (21347749)
2011
15
Familial tumoral calcinosis in two Chinese patients: a case series. (21854601)
2011
16
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. (21160498)
2011
17
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. (19830424)
2010
18
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. (19865099)
2010
19
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. (20358599)
2010
20
An ocular presentation of familial tumoral calcinosis. (22778290)
2010
21
Familial tumoral calcinosis. (21290017)
2010
22
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. (18976705)
2009
23
Genetics of familial tumoral calcinosis. (19231744)
2009
24
Familial tumoral calcinosis: a forty-year follow-up on one family. (19255228)
2009
25
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. (19013236)
2009
26
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
27
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. (18982401)
2009
28
Angioid streaks and optic nerve head drusen in hyperphosphatemic familial tumoral calcinosis. (25390839)
2009
29
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. (18094730)
2008
30
Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. (18682534)
2008
31
SAMD9 mutation in normophosphatemic familial tumoral calcinosis]. (17507861)
2007
32
Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. (17351710)
2007
33
Two novel GALNT3 mutations in familial tumoral calcinosis. (17853462)
2007
34
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. (16960814)
2006
35
Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3. (16871046)
2006
36
Familial tumoral calcinosis with hyperphosphatemia is heterogeneous and associated with mutations in GALNT3 or FGF-23]. (16733465)
2006
37
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. (16638743)
2006
38
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. (16567474)
2006
39
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. (16528452)
2006
40
Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. (15961556)
2005
41
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis. (15900124)
2005
42
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. (15687325)
2005
43
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. (15590700)
2005
44
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. (16151858)
2005
45
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. (15599692)
2005
46
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. (15133511)
2004
47
A case of familial tumoral calcinosis in a neonate and review of the literature. (15340747)
2004
48
Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation. (10379593)
1999
49
Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis. (8338191)
1993
50
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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Search GEO for disease gene expression data for Familial Tumoral Calcinosis.

Pathways for genes affiliated with Familial Tumoral Calcinosis

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Pathways related to Familial Tumoral Calcinosis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1EGR1, TNF

GO Terms for genes affiliated with Familial Tumoral Calcinosis

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Biological processes related to Familial Tumoral Calcinosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.3FGF23, KL
2negative regulation of osteoblast differentiationGO:00456689.6FGF23, TNF
3Ras protein signal transductionGO:00072659.3FGF23, KL, RGL2
4MAPK cascadeGO:00001658.7FGF23, KL, TNF

Molecular functions related to Familial Tumoral Calcinosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transferase activity, transferring glycosyl groupsGO:00167579.7GALNT3, POMGNT2

Sources for Familial Tumoral Calcinosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet