MCID: FML091
MIFTS: 37

Familial Tumoral Calcinosis malady

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

Aliases & Classifications for Familial Tumoral Calcinosis

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Sources:
30ICD10 via Orphanet, 47NIH Rare Diseases, 53Orphanet, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Familial Tumoral Calcinosis:

Name: Familial Tumoral Calcinosis 47 53

Characteristics:

Orphanet epidemiological data:

53
familial tumoral calcinosis:
Inheritance: Autosomal recessive; Age of onset: Childhood

Classifications:



External Ids:

Orphanet53 ORPHA53715
UMLS via Orphanet68 C0263628
ICD10 via Orphanet30 M11.2

Summaries for Familial Tumoral Calcinosis

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MalaCards based summary: Familial Tumoral Calcinosis is related to tumoral calcinosis, hyperphosphatemic, familial and hyperostosis, and has symptoms including Array, Array and Array. An important gene associated with Familial Tumoral Calcinosis is FGF23 (Fibroblast Growth Factor 23), and among its related pathways are Calcineurin-regulated NFAT-dependent transcription in lymphocytes and Downstream signaling in naive CD8+ T cells. Affiliated tissues include skin, bone and heart, and related mouse phenotypes are digestive/alimentary and limbs/digits/tail.

Related Diseases for Familial Tumoral Calcinosis

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

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1tumoral calcinosis, hyperphosphatemic, familial32.8FGF23, GALNT3, KL
2hyperostosis30.4FGF23, PHEX
3hyperphosphatemic familial tumoral calcinosis, fgf23-related12.0
4hyperphosphatemic familial tumoral calcinosis, galnt3-related12.0
5hyperphosphatemic familial tumoral calcinosis, kl-related12.0
6tumoral calcinosis, familial, normophosphatemic11.7
7calcinosis10.5
8mild pre-eclampsia10.3FGF23, GALNT3
9jacobsen syndrome10.3FGF23, PHEX
10onychotrichodysplasia and neutropenia10.3FGF23, PHEX
11spastic ataxia10.3FGF23, PHEX
12thanatophoric dysplasia, type ii10.3FGF23, GALNT3
13brugada syndrome10.3FGF23, PHEX
14azoospermia10.3FGF23, KL
15prostate cancer, hereditary, x-linked 210.2FGF23, PHEX
16angelucci's syndrome10.2FGF23, KL
17bone deterioration disease10.2FGF23, PHEX
18leukodystrophy10.1FGF23, PHEX
19hyperphosphatemia10.0
20peroxisome biogenesis disorder 2a10.0FGF23, GALNT3, PHEX
21atelosteogenesis10.0FGF23, GALNT3, PHEX
22chronic myelomonocytic leukemia10.0FGF23, KL
23interval angle-closure glaucoma10.0FGF23, KL
24substance dependence10.0FGF23, GALNT3, KL
25capillariasis10.0FGF23, GALNT3, KL
26maxillary sinusitis9.9FGF23, GALNT3, KL
27commensal bacterial infectious disease9.9FGF23, KL, PHEX
28perrault syndrome9.8KL, TNF
29protein-losing enteropathy9.8FGF23, PHEX
30testicular microlithiasis9.7
31chronic recurrent multifocal osteomyelitis9.7
32dentin dysplasia9.7
33osteomyelitis9.7
34angioid streaks9.7
35cerebritis9.7
36aneurysm9.7
37sensory peripheral neuropathy9.6FGF23, GALNT3, KL, PHEX
38loeys-dietz syndrome9.6FGF23, GALNT3, KL, PHEX
39astrakhan spotted fever9.6FGF23, GALNT3, KL, PHEX
40tuberous sclerosis-19.6FGF23, GALNT3, KL, PHEX
41chylomicron retention disease9.4FGF23, KL, TNF
42status epilepticus8.6FGF23, GALNT3, KL, PHEX, RGL2, SAMD9
43familial wilms tumor 27.2EGR1, 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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Human phenotypes related to Familial Tumoral Calcinosis:

 53 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrocalcinosis53 Occasional (29-5%)
2 abnormality of the teeth53 Occasional (29-5%)
3 abnormality of the gingiva53 Occasional (29-5%)
4 abnormality of the palate53 Occasional (29-5%)
5 gingivitis53 Occasional (29-5%)
6 hyperhidrosis53 Occasional (29-5%)
7 skin rash53 Frequent (79-30%)
8 hypopigmented skin patches53 Occasional (29-5%)
9 subcutaneous nodule53 Very frequent (99-80%)
10 hoarse voice53 Occasional (29-5%)
11 splenomegaly53 Occasional (29-5%)
12 hepatomegaly53 Occasional (29-5%)
13 bone pain53 Very frequent (99-80%)
14 periarticular subcutaneous nodules53 Very frequent (99-80%)
15 neoplasm of the skin53 Occasional (29-5%)
16 erythema53 Frequent (79-30%)
17 calcification of muscles53 Very frequent (99-80%)
18 hyperostosis53 Frequent (79-30%)

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 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sevelamerapproved7452757-95-6, 152751-57-03085017
Synonyms:
Sevelamer
 
Sevelamero
Sevelamerum
Sévélamer
2
Alfacalcidolapproved, nutraceutical5241294-56-85282181
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
3Vitamins5095
4Trace Elements5802
5Hydroxycholecalciferols102
6Bone Density Conservation Agents3266
7Chelating Agents1365
8Micronutrients5802

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:

35
Skin, Bone, Heart

Animal Models for Familial Tumoral Calcinosis or affiliated genes

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MGI Mouse Phenotypes related to Familial Tumoral Calcinosis:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.0FGF23, GALNT3, KL, PHEX, TNF
2MP:00053718.9FGF23, GALNT3, KL, PHEX, TNF
3MP:00107718.9EGR1, FGF23, GALNT3, KL, TNF
4MP:00053978.5EGR1, FGF23, GALNT3, KL, PHEX, TNF
5MP:00053878.4EGR1, FGF23, GALNT3, KL, PHEX, TNF
6MP:00053788.1EGR1, FGF23, GALNT3, KL, PHEX, POMGNT2
7MP:00053768.1EGR1, FGF23, GALNT3, KL, PHEX, POMGNT2
8MP:00053907.7EGR1, FGF23, GALNT3, KL, PHEX, TNF

Publications for Familial Tumoral Calcinosis

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Articles related to Familial Tumoral Calcinosis:

(show top 50)    (show all 54)
idTitleAuthorsYear
1
Topical Sodium thiosulfate: a treatment for calcifications in hyperphosphatemic familial tumoral calcinosis? (27163355)
2016
2
Phenotypic and Genotypic Characterization and Treatment of a Cohort with Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome. (27164190)
2016
3
Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis. (27867679)
2016
4
Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action. (25656441)
2015
5
FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients. (26620085)
2015
6
Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). (26337219)
2015
7
Familial tumoral calcinosis: a valuable vehicle for discovery. (25147226)
2014
8
Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms. (24668887)
2014
9
Familial tumoral calcinosis. (25351424)
2014
10
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis. (25351881)
2014
11
Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features. (25537063)
2014
12
Nicotinamide treatment in a murine model of familial tumoral calcinosis reduces serum Fgf23 and raises heart calcium. (25007710)
2014
13
Familial Tumoral Calcinosis with dento-alveolar anomalies: clinico-pathological findings and Confocal Laser Scanning Microscopy of hard and soft tissues lesions. (24353776)
2013
14
Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis. (22716256)
2012
15
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and I+Klotho). (22142751)
2011
16
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. (21347749)
2011
17
Familial tumoral calcinosis in two Chinese patients: a case series. (21854601)
2011
18
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. (21160498)
2011
19
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. (19830424)
2010
20
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. (19865099)
2010
21
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. (20358599)
2010
22
An ocular presentation of familial tumoral calcinosis. (22778290)
2010
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
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. (18976705)
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
Angioid streaks and optic nerve head drusen in hyperphosphatemic familial tumoral calcinosis. (25390839)
2009
30
Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis. (18682534)
2008
31
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. (18094730)
2008
32
Two novel GALNT3 mutations in familial tumoral calcinosis. (17853462)
2007
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
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. (16960814)
2006
36
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. (16567474)
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
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis. (15900124)
2005
41
Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. (15961556)
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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3EGR1, TNF
2
Show member pathways
9.3EGR1, 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:009008010.2FGF23, KL
2phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.0FGF23, KL
3negative regulation of osteoblast differentiationGO:00456689.8FGF23, TNF
4fibroblast growth factor receptor signaling pathwayGO:00085439.5FGF23, GALNT3, KL
5MAPK cascadeGO:00001659.0FGF23, KL, TNF

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

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:001630310.0FGF23, KL
2phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.7FGF23, KL
3Ras guanyl-nucleotide exchange factor activityGO:00050888.8FGF23, KL, RGL2

Sources for Familial Tumoral Calcinosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet