MCID: FML091
MIFTS: 46

Familial Tumoral Calcinosis

Categories: Rare diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Familial Tumoral Calcinosis

Summaries for Familial Tumoral Calcinosis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 53715Disease definitionTumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.Visit the Orphanet disease page for more resources.

MalaCards based summary : Familial Tumoral Calcinosis is related to tumoral calcinosis, hyperphosphatemic, familial, 1 and tumoral calcinosis, normophosphatemic, familial. An important gene associated with Familial Tumoral Calcinosis is FGF23 (Fibroblast Growth Factor 23), and among its related pathways/superpathways are Mucin type O-glycan biosynthesis and MAPK signaling pathway. The drugs Sevelamer and Alfacalcidol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and kidney, and related phenotypes are nephrocalcinosis and abnormality of the dentition

Related Diseases for Familial Tumoral Calcinosis

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 tumoral calcinosis, hyperphosphatemic, familial, 1 32.6 FGF23 GALNT3 KL
2 tumoral calcinosis, normophosphatemic, familial 31.5 EGR1 GALNT3 RGL2 SAMD9 SAMD9L
3 hyperostosis 29.4 FGF23 GALNT3 KL
4 hyperphosphatemia 28.4 FGF23 GALNT3 KL PHEX
5 calcinosis 27.2 FGF23 GALNT3 KL PHEX RGL2 SAMD9
6 tumoral calcinosis, hyperphosphatemic, familial, 2 11.0
7 tumoral calcinosis, hyperphosphatemic, familial, 3 11.0
8 lacrimoauriculodentodigital syndrome 10.3 FGF23 GALNT3
9 opsismodysplasia 10.1 FGF23 PHEX
10 enthesopathy 10.1 FGF23 PHEX
11 oncogenic osteomalacia 10.1 FGF23 PHEX
12 autosomal recessive hypophosphatemic rickets 10.0 FGF23 PHEX
13 hypophosphatemic rickets, x-linked recessive 10.0 FGF23 PHEX
14 tracheal calcification 9.9 FGF23 KL
15 bone remodeling disease 9.8 FGF23 PHEX
16 hypophosphatemic rickets, autosomal dominant 9.8 FGF23 GALNT3 PHEX
17 arterial calcification of infancy 9.8 FGF23 GALNT3 PHEX
18 osteomalacia 9.7 FGF23 PHEX
19 chronic recurrent multifocal osteomyelitis 9.7
20 angioid streaks 9.7
21 testicular microlithiasis 9.7
22 dentin dysplasia 9.7
23 osteomyelitis 9.7
24 cerebritis 9.7
25 aneurysm 9.7
26 hypervitaminosis d 9.6 FGF23 GALNT3 KL
27 hypophosphatemia 9.5 FGF23 PHEX
28 urinary system disease 9.3 FGF23 KL TNF
29 hypophosphatemic rickets, x-linked dominant 9.2 FGF23 KL PHEX
30 phosphorus metabolism disease 8.9 FGF23 GALNT3 KL PHEX
31 hypophosphatemic rickets with hypercalciuria, hereditary 8.9 FGF23 GALNT3 KL PHEX
32 mineral metabolism disease 8.9 FGF23 GALNT3 KL PHEX

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



Diseases related to Familial Tumoral Calcinosis

Symptoms & Phenotypes for Familial Tumoral Calcinosis

Human phenotypes related to Familial Tumoral Calcinosis:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrocalcinosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000121
2 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
3 gingivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000230
4 hyperhidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000975
5 skin rash 59 32 frequent (33%) Frequent (79-30%) HP:0000988
6 hypopigmented skin patches 59 32 occasional (7.5%) Occasional (29-5%) HP:0001053
7 hoarse voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001609
8 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
9 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
10 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
11 periarticular subcutaneous nodules 59 32 hallmark (90%) Very frequent (99-80%) HP:0007470
12 neoplasm of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0008069
13 erythema 59 32 frequent (33%) Frequent (79-30%) HP:0010783
14 calcification of muscles 59 32 hallmark (90%) Very frequent (99-80%) HP:0100249
15 hyperostosis 59 32 frequent (33%) Frequent (79-30%) HP:0100774
16 abnormality of the gingiva 59 Occasional (29-5%)
17 abnormality of the palate 59 Occasional (29-5%)
18 subcutaneous nodule 59 Very frequent (99-80%)
19 abnormal palate morphology 32 occasional (7.5%) HP:0000174

MGI Mouse Phenotypes related to Familial Tumoral Calcinosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.95 EGR1 PHEX POMGNT2 FGF23 GALNT3 TNF
2 homeostasis/metabolism MP:0005376 9.92 EGR1 PHEX FGF23 POMGNT2 SAMD9L GALNT3
3 hematopoietic system MP:0005397 9.91 EGR1 PHEX FGF23 SAMD9L GALNT3 TNF
4 digestive/alimentary MP:0005381 9.83 PHEX FGF23 GALNT3 TNF KL
5 immune system MP:0005387 9.8 EGR1 PHEX FGF23 SAMD9L GALNT3 TNF
6 integument MP:0010771 9.63 FGF23 SAMD9L GALNT3 TNF KL EGR1
7 limbs/digits/tail MP:0005371 9.43 PHEX FGF23 GALNT3 TNF KL EGR1
8 skeleton MP:0005390 9.1 EGR1 PHEX FGF23 GALNT3 TNF KL

Drugs & Therapeutics for Familial Tumoral Calcinosis

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sevelamer Approved 52757-95-6
2
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
3 Micronutrients
4 Chelating Agents
5 Trace Elements
6 Hydroxycholecalciferols
7 Vitamins
8 Bone Density Conservation Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation and Treatment of Skeletal Diseases Recruiting NCT00024804
2 Hypophosphatemic Rickets in Norway Active, not recruiting NCT01057186 Sevelamer

Search NIH Clinical Center for Familial Tumoral Calcinosis

Genetic Tests for Familial Tumoral Calcinosis

Anatomical Context for Familial Tumoral Calcinosis

MalaCards organs/tissues related to Familial Tumoral Calcinosis:

41
Skin, Bone, Kidney, Colon, Heart

Publications for Familial Tumoral Calcinosis

Articles related to Familial Tumoral Calcinosis:

(show top 50) (show all 59)
# Title Authors Year
1
Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation. ( 29548779 )
2018
2
Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature. ( 29923062 )
2018
3
Submucosal Colonic Masses in a Patient With Familial Tumoral Calcinosis. ( 28381848 )
2017
4
Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis. ( 27867679 )
2016
5
Phenotypic and Genotypic Characterization and Treatment of a Cohort with Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome. ( 27164190 )
2016
6
Topical Sodium thiosulfate: a treatment for calcifications in hyperphosphatemic familial tumoral calcinosis? ( 27163355 )
2016
7
FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients. ( 26620085 )
2015
8
Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). ( 26337219 )
2015
9
Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action. ( 25656441 )
2015
10
Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features. ( 25537063 )
2014
11
Familial tumoral calcinosis. ( 25351424 )
2014
12
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
13
Familial tumoral calcinosis: a valuable vehicle for discovery. ( 25147226 )
2014
14
High dietary phosphate intake induces development of ectopic calcifications in a murine model of familial tumoral calcinosis. ( 24692172 )
2014
15
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis. ( 25351881 )
2014
16
Nicotinamide treatment in a murine model of familial tumoral calcinosis reduces serum Fgf23 and raises heart calcium. ( 25007710 )
2014
17
Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms. ( 24668887 )
2014
18
Familial Tumoral Calcinosis with dento-alveolar anomalies: clinico-pathological findings and Confocal Laser Scanning Microscopy of hard and soft tissues lesions. ( 24353776 )
2013
19
Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis. ( 22716256 )
2012
20
Familial tumoral calcinosis in two Chinese patients: a case series. ( 21854601 )
2011
21
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. ( 21160498 )
2011
22
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and I+Klotho). ( 22142751 )
2011
23
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. ( 21347749 )
2011
24
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. ( 20358599 )
2010
25
Familial tumoral calcinosis. ( 21290017 )
2010
26
An ocular presentation of familial tumoral calcinosis. ( 22778290 )
2010
27
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. ( 19830424 )
2010
28
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. ( 19865099 )
2010
29
Genetics of familial tumoral calcinosis. ( 19231744 )
2009
30
Familial tumoral calcinosis: a forty-year follow-up on one family. ( 19255228 )
2009
31
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. ( 19013236 )
2009
32
Angioid streaks and optic nerve head drusen in hyperphosphatemic familial tumoral calcinosis. ( 25390839 )
2009
33
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
34
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. ( 18976705 )
2009
35
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. ( 18982401 )
2009
36
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. ( 18094730 )
2008
37
Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. ( 18682534 )
2008
38
Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. ( 17351710 )
2007
39
[SAMD9 mutation in normophosphatemic familial tumoral calcinosis]. ( 17507861 )
2007
40
[Familial tumoral calcinosis in three patients in the same family]. ( 17876123 )
2007
41
Two novel GALNT3 mutations in familial tumoral calcinosis. ( 17853462 )
2007
42
[Familial tumoral calcinosis with hyperphosphatemia is heterogeneous and associated with mutations in GALNT3 or FGF-23]. ( 16733465 )
2006
43
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. ( 16638743 )
2006
44
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. ( 16567474 )
2006
45
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. ( 16528452 )
2006
46
Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3. ( 16871046 )
2006
47
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. ( 16960814 )
2006
48
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis. ( 15900124 )
2005
49
Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. ( 15961556 )
2005
50
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. ( 15590700 )
2005

Variations for Familial Tumoral Calcinosis

Expression for Familial Tumoral Calcinosis

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

Pathways for Familial Tumoral Calcinosis

Pathways related to Familial Tumoral Calcinosis according to KEGG:

37
# Name Kegg Source Accession
1 Mucin type O-glycan biosynthesis hsa00512
2 MAPK signaling pathway hsa04010
3 Regulation of actin cytoskeleton hsa04810
4 Pentose and glucuronate interconversions hsa00040
5 Starch and sucrose metabolism hsa00500
6 Endocrine and other factor-regulated calcium reabsorption hsa04961

GO Terms for Familial Tumoral Calcinosis

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.65 FGF23 KL TNF
2 positive regulation of protein kinase B signaling GO:0051897 9.61 FGF23 KL TNF
3 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.49 FGF23 KL
4 negative regulation of osteoblast differentiation GO:0045668 9.46 FGF23 TNF
5 cellular response to vitamin D GO:0071305 9.4 FGF23 PHEX
6 endosomal vesicle fusion GO:0034058 9.37 SAMD9 SAMD9L
7 fibroblast growth factor receptor signaling pathway GO:0008543 9.33 FGF23 GALNT3 KL
8 cellular response to parathyroid hormone stimulus GO:0071374 9.32 FGF23 PHEX
9 positive regulation of chemokine biosynthetic process GO:0045080 9.26 EGR1 TNF
10 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 8.96 FGF23 KL
11 response to sodium phosphate GO:1904383 8.62 FGF23 PHEX

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.26 FGF23 KL
2 1-phosphatidylinositol-3-kinase activity GO:0016303 9.16 FGF23 KL
3 fibroblast growth factor receptor binding GO:0005104 8.96 FGF23 KL
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.8 FGF23 KL RGL2

Sources for Familial Tumoral Calcinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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