MCID: FML091
MIFTS: 42

Familial Tumoral Calcinosis

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

Aliases & Classifications for Familial Tumoral Calcinosis

Summaries for Familial Tumoral Calcinosis

NIH Rare Diseases : 50 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. last updated: 7/10/2017

MalaCards based summary : Familial Tumoral Calcinosis is related to calcinosis and hyperphosphatemic familial tumoral calcinosis, fgf23-related, and has symptoms including nephrocalcinosis, abnormality of the palate and gingivitis. An important gene associated with Familial Tumoral Calcinosis is FGF23 (Fibroblast Growth Factor 23), and among its related pathways/superpathways are Negative regulation of FGFR1 signaling and Signaling by FGFR2. The drugs Sevelamer and Alfacalcidol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are growth/size/body region and homeostasis/metabolism

Related Diseases for Familial Tumoral Calcinosis

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

(show all 37)
id Related Disease Score Top Affiliating Genes
1 calcinosis 29.9 FGF23 KL TNF
2 hyperphosphatemic familial tumoral calcinosis, fgf23-related 12.0
3 hyperphosphatemic familial tumoral calcinosis, galnt3-related 12.0
4 hyperphosphatemic familial tumoral calcinosis, kl-related 12.0
5 tumoral calcinosis, hyperphosphatemic, familial 11.8
6 tumoral calcinosis, familial, normophosphatemic 11.7
7 thanatophoric dysplasia, type ii 10.2 FGF23 GALNT3
8 jacobsen syndrome 10.1 FGF23 PHEX
9 ophn1 syndrome 10.1 FGF23 PHEX
10 acute maxillary sinusitis 10.1 FGF23 PHEX
11 hyperphosphatemia 10.0
12 spastic ataxia 10.0 FGF23 PHEX
13 hyperostosis 10.0
14 prostate cancer, hereditary, x-linked 2 10.0 FGF23 PHEX
15 oligospermia 10.0 FGF23 KL
16 commensal bacterial infectious disease 9.9 FGF23 PHEX
17 peroxisome biogenesis disorder 2a 9.9 FGF23 GALNT3 PHEX
18 atelosteogenesis 9.9 FGF23 GALNT3 PHEX
19 bone deterioration disease 9.8 FGF23 PHEX
20 drug dependence 9.7 FGF23 GALNT3 KL
21 donnai-barrow syndrome 9.7 FGF23 GALNT3 KL
22 chronic recurrent multifocal osteomyelitis 9.7
23 dentin dysplasia 9.7
24 osteomyelitis 9.7
25 angioid streaks 9.7
26 cerebritis 9.7
27 aneurysm 9.7
28 loeys-dietz syndrome 9.7 FGF23 GALNT3 KL
29 post-traumatic stress disorder 9.6 FGF23 GALNT3 KL
30 mild pre-eclampsia 9.6 FGF23 PHEX
31 coffin-lowry syndrome 9.4 FGF23 KL PHEX
32 mirage syndrome 9.2 EGR1 GALNT3 RGL2 SAMD9 SAMD9L
33 gastric antral vascular ectasia 9.1 FGF23 GALNT3 KL PHEX
34 astrakhan spotted fever 9.1 FGF23 GALNT3 KL PHEX
35 charcot-marie-tooth disease, type 4k 9.1 FGF23 GALNT3 KL PHEX
36 childhood absence epilepsy 7.9 FGF23 GALNT3 KL PHEX RGL2 SAMD9
37 fatal infantile encephalomyopathy 6.5 EGR1 FGF23 GALNT3 KL PHEX POMGNT2

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:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrocalcinosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000121
2 abnormality of the palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000174
3 gingivitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000230
4 hyperhidrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000975
5 skin rash 56 32 frequent (33%) Frequent (79-30%) HP:0000988
6 hypopigmented skin patches 56 32 occasional (7.5%) Occasional (29-5%) HP:0001053
7 hoarse voice 56 32 occasional (7.5%) Occasional (29-5%) HP:0001609
8 splenomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001744
9 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
10 bone pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002653
11 periarticular subcutaneous nodules 56 32 hallmark (90%) Very frequent (99-80%) HP:0007470
12 neoplasm of the skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0008069
13 erythema 56 32 frequent (33%) Frequent (79-30%) HP:0010783
14 calcification of muscles 56 32 hallmark (90%) Very frequent (99-80%) HP:0100249
15 hyperostosis 56 32 frequent (33%) Frequent (79-30%) HP:0100774
16 abnormality of the teeth 56 Occasional (29-5%)
17 abnormality of the gingiva 56 Occasional (29-5%)
18 subcutaneous nodule 56 Very frequent (99-80%)
19 abnormality of the dentition 32 occasional (7.5%) HP:0000164

MGI Mouse Phenotypes related to Familial Tumoral Calcinosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.95 KL EGR1 PHEX POMGNT2 FGF23 GALNT3
2 homeostasis/metabolism MP:0005376 9.92 EGR1 PHEX FGF23 POMGNT2 SAMD9L GALNT3
3 hematopoietic system MP:0005397 9.91 KL EGR1 PHEX FGF23 SAMD9L GALNT3
4 digestive/alimentary MP:0005381 9.83 KL PHEX FGF23 GALNT3 TNF
5 immune system MP:0005387 9.8 KL EGR1 PHEX FGF23 SAMD9L GALNT3
6 integument MP:0010771 9.63 EGR1 FGF23 SAMD9L GALNT3 TNF KL
7 limbs/digits/tail MP:0005371 9.43 EGR1 PHEX FGF23 GALNT3 TNF KL
8 skeleton MP:0005390 9.1 KL EGR1 PHEX FGF23 GALNT3 TNF

Drugs & Therapeutics for Familial Tumoral Calcinosis

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

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sevelamer Approved 52757-95-6, 152751-57-0 3085017
2
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
3 Bone Density Conservation Agents
4 Chelating Agents
5 Hydroxycholecalciferols
6 Micronutrients
7 Trace Elements
8 Vitamins

Interventional clinical trials:


id 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:

39
Skin, Bone, Heart, Colon

Publications for Familial Tumoral Calcinosis

Articles related to Familial Tumoral Calcinosis:

(show top 50) (show all 55)
id Title Authors Year
1
Submucosal Colonic Masses in a Patient With Familial Tumoral Calcinosis. ( 28381848 )
2017
2
Phenotypic and Genotypic Characterization and Treatment of a Cohort with Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome. ( 27164190 )
2016
3
Topical Sodium thiosulfate: a treatment for calcifications in hyperphosphatemic familial tumoral calcinosis? ( 27163355 )
2016
4
Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis. ( 27867679 )
2016
5
Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). ( 26337219 )
2015
6
Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action. ( 25656441 )
2015
7
FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients. ( 26620085 )
2015
8
Familial tumoral calcinosis. ( 25351424 )
2014
9
High dietary phosphate intake induces development of ectopic calcifications in a murine model of familial tumoral calcinosis. ( 24692172 )
2014
10
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis. ( 25351881 )
2014
11
Familial tumoral calcinosis: a valuable vehicle for discovery. ( 25147226 )
2014
12
Nicotinamide treatment in a murine model of familial tumoral calcinosis reduces serum Fgf23 and raises heart calcium. ( 25007710 )
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
Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features. ( 25537063 )
2014
15
Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms. ( 24668887 )
2014
16
Familial Tumoral Calcinosis with dento-alveolar anomalies: clinico-pathological findings and Confocal Laser Scanning Microscopy of hard and soft tissues lesions. ( 24353776 )
2013
17
Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis. ( 22716256 )
2012
18
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. ( 21160498 )
2011
19
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and I+Klotho). ( 22142751 )
2011
20
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. ( 21347749 )
2011
21
Familial tumoral calcinosis in two Chinese patients: a case series. ( 21854601 )
2011
22
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. ( 19865099 )
2010
23
Familial tumoral calcinosis. ( 21290017 )
2010
24
An ocular presentation of familial tumoral calcinosis. ( 22778290 )
2010
25
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. ( 19830424 )
2010
26
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. ( 20358599 )
2010
27
Angioid streaks and optic nerve head drusen in hyperphosphatemic familial tumoral calcinosis. ( 25390839 )
2009
28
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. ( 18982401 )
2009
29
Familial tumoral calcinosis: a forty-year follow-up on one family. ( 19255228 )
2009
30
Genetics of familial tumoral calcinosis. ( 19231744 )
2009
31
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. ( 18976705 )
2009
32
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. ( 19013236 )
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
Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. ( 18682534 )
2008
35
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. ( 18094730 )
2008
36
Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. ( 17351710 )
2007
37
Two novel GALNT3 mutations in familial tumoral calcinosis. ( 17853462 )
2007
38
[SAMD9 mutation in normophosphatemic familial tumoral calcinosis]. ( 17507861 )
2007
39
[Familial tumoral calcinosis with hyperphosphatemia is heterogeneous and associated with mutations in GALNT3 or FGF-23]. ( 16733465 )
2006
40
Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3. ( 16871046 )
2006
41
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. ( 16960814 )
2006
42
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. ( 16567474 )
2006
43
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. ( 16638743 )
2006
44
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. ( 16528452 )
2006
45
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. ( 15599692 )
2005
46
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. ( 15590700 )
2005
47
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis. ( 15900124 )
2005
48
Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. ( 15961556 )
2005
49
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. ( 15687325 )
2005
50
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. ( 16151858 )
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

GO Terms for Familial Tumoral Calcinosis

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

id Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.63 FGF23 KL TNF
2 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.48 FGF23 KL
3 negative regulation of osteoblast differentiation GO:0045668 9.43 FGF23 TNF
4 cellular response to vitamin D GO:0071305 9.4 FGF23 PHEX
5 positive regulation of chemokine biosynthetic process GO:0045080 9.37 EGR1 TNF
6 fibroblast growth factor receptor signaling pathway GO:0008543 9.33 FGF23 GALNT3 KL
7 endosomal vesicle fusion GO:0034058 9.32 SAMD9 SAMD9L
8 cellular response to parathyroid hormone stimulus GO:0071374 9.26 FGF23 PHEX
9 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 8.96 FGF23 KL
10 response to sodium phosphate GO:1904383 8.62 FGF23 PHEX

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

id Name GO ID Score Top Affiliating Genes
1 1-phosphatidylinositol-3-kinase activity GO:0016303 9.16 FGF23 KL
2 fibroblast growth factor receptor binding GO:0005104 8.96 FGF23 KL
3 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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