MCID: FML091
MIFTS: 40

Familial Tumoral Calcinosis malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Cancer diseases

Aliases & Classifications for Familial Tumoral Calcinosis

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Sources:
45NIH Rare Diseases, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Familial Tumoral Calcinosis:

Name: Familial Tumoral Calcinosis 45 51

Characteristics:

Orphanet epidemiological data:

51
familial tumoral calcinosis:
Inheritance: Autosomal recessive,Not applicable; Age of onset: Childhood

Classifications:



External Ids:

Orphanet51 53715
ICD10 via Orphanet28 M11.2
UMLS via Orphanet66 C0263628

Summaries for Familial Tumoral Calcinosis

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MalaCards based summary: Familial Tumoral Calcinosis is related to tumoral calcinosis, hyperphosphatemic, familial and hyperphosphatemic familial tumoral calcinosis, fgf23-related, and has symptoms including chondrocalcinosis, bone pain and hyperphosphatemia. An important gene associated with Familial Tumoral Calcinosis is FGF23 (Fibroblast Growth Factor 23), and among its related pathways are FGFR3 mutant receptor activation and AGE-RAGE signaling pathway in diabetic complications. Affiliated tissues include skin, bone and kidney, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

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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Symptoms:

 51 (show all 23)
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • muscle ossification
  • bone pain
  • periarticular tissue anomaly/extraarticular calcifications
  • hyperphosphtemia
  • cutaneous rash
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • hyperostosis
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • autosomal recessive inheritance
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • anomalies of tongue, gingiva and oral mucosa
  • gingivitis
  • palate anomalies
  • anomalies of teeth and dentition
  • hyperhidrosis/increased sweating
  • irregular/patchy skin hypopigmentation
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • abnormal cry/voice/phonation disorder/nasal speech
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • renal/kidney calcifications/nephrocalcinosis
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

HPO human phenotypes related to Familial Tumoral Calcinosis:

(show all 18)
id Description Frequency HPO Source Accession
1 chondrocalcinosis hallmark (90%) HP:0000934
2 bone pain hallmark (90%) HP:0002653
3 hyperphosphatemia hallmark (90%) HP:0002905
4 skin rash typical (50%) HP:0000988
5 osteomyelitis typical (50%) HP:0002754
6 hyperostosis typical (50%) HP:0100774
7 nephrocalcinosis occasional (7.5%) HP:0000121
8 abnormality of the teeth occasional (7.5%) HP:0000164
9 abnormality of the palate occasional (7.5%) HP:0000174
10 gingivitis occasional (7.5%) HP:0000230
11 hyperhidrosis occasional (7.5%) HP:0000975
12 hypopigmented skin patches occasional (7.5%) HP:0001053
13 abnormality of the voice occasional (7.5%) HP:0001608
14 splenomegaly occasional (7.5%) HP:0001744
15 hepatomegaly occasional (7.5%) HP:0002240
16 neoplasm of the skin occasional (7.5%) HP:0008069
17 arteriovenous malformation occasional (7.5%) HP:0100026
18 inflammatory abnormality of the eye occasional (7.5%) HP:0100533

Drugs & Therapeutics for Familial Tumoral Calcinosis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sevelamerapproved72152751-57-03085017
Synonyms:
Renagel
Renvela
Sevelamer
Sevelamer Carbonate
 
Sevelamero
Sevelamerum
Sévélamer
sevelamer carbonate
sevelamer hydrochloride
2
Alfacalcidolapproved, nutraceutical4341294-56-85282181
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
3Hydroxycholecalciferols92
4Contraceptives, Oral3734
5Bone Density Conservation Agents2600

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluation and Treatment of Skeletal DiseasesRecruitingNCT00024804
2Hypophosphatemic 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, Bone, Kidney, Liver, Tongue, Eye, Monocytes

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:00053718.6FGF23, GALNT3, KL, TNF
2MP:00053818.5FGF23, GALNT3, KL, TNF
3MP:00053888.4EGR1, FGF23, KL, TNF
4MP:00053798.0EGR1, FGF23, GALNT3, KL, TNF
5MP:00107718.0EGR1, FGF23, GALNT3, KL, TNF
6MP:00053897.9EGR1, FGF23, GALNT3, KL, TNF
7MP:00053907.7EGR1, FGF23, GALNT3, KL, TNF
8MP:00053857.6EGR1, FGF23, GALNT3, KL, TNF
9MP:00053977.4EGR1, FGF23, GALNT3, KL, TNF

Publications for Familial Tumoral Calcinosis

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Articles related to Familial Tumoral Calcinosis:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
Phenotypic and Genotypic Characterization and Treatment of a Cohort with Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome. (27164190)
2016
2
Topical Sodium thiosulfate: a treatment for calcifications in hyperphosphatemic familial tumoral calcinosis? (27163355)
2016
3
Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action. (25656441)
2015
4
FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients. (26620085)
2015
5
Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). (26337219)
2015
6
Familial tumoral calcinosis. (25351424)
2014
7
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis. (25351881)
2014
8
Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features. (25537063)
2014
9
Nicotinamide treatment in a murine model of familial tumoral calcinosis reduces serum Fgf23 and raises heart calcium. (25007710)
2014
10
High dietary phosphate intake induces development of ectopic calcifications in a murine model of familial tumoral calcinosis. (24692172)
2014
11
Familial tumoral calcinosis: a valuable vehicle for discovery. (25147226)
2014
12
Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms. (24668887)
2014
13
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
14
Familial Tumoral Calcinosis with dento-alveolar anomalies: clinico-pathological findings and Confocal Laser Scanning Microscopy of hard and soft tissues lesions. (24353776)
2013
15
Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis. (22716256)
2012
16
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and I+Klotho). (22142751)
2011
17
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. (21347749)
2011
18
Familial tumoral calcinosis in two Chinese patients: a case series. (21854601)
2011
19
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. (21160498)
2011
20
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. (19830424)
2010
21
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. (19865099)
2010
22
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. (20358599)
2010
23
An ocular presentation of familial tumoral calcinosis. (22778290)
2010
24
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. (18976705)
2009
25
Genetics of familial tumoral calcinosis. (19231744)
2009
26
Familial tumoral calcinosis: a forty-year follow-up on one family. (19255228)
2009
27
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. (19013236)
2009
28
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
29
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. (18982401)
2009
30
Angioid streaks and optic nerve head drusen in hyperphosphatemic familial tumoral calcinosis. (25390839)
2009
31
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. (18094730)
2008
32
Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. (18682534)
2008
33
SAMD9 mutation in normophosphatemic familial tumoral calcinosis]. (17507861)
2007
34
Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. (17351710)
2007
35
Two novel GALNT3 mutations in familial tumoral calcinosis. (17853462)
2007
36
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. (16960814)
2006
37
Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3. (16871046)
2006
38
Familial tumoral calcinosis with hyperphosphatemia is heterogeneous and associated with mutations in GALNT3 or FGF-23]. (16733465)
2006
39
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. (16638743)
2006
40
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. (16567474)
2006
41
Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. (15961556)
2005
42
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis. (15900124)
2005
43
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. (15687325)
2005
44
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. (15590700)
2005
45
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. (16151858)
2005
46
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. (15599692)
2005
47
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. (15133511)
2004
48
A case of familial tumoral calcinosis in a neonate and review of the literature. (15340747)
2004
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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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
1phosphatidylinositol-mediated signalingGO:00480159.9FGF23, KL
2positive regulation of transcription, DNA-templatedGO:00458938.7EGR1, FGF23, TNF

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