MCID: FML091
MIFTS: 43

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:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 43Novoseek, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Familial Tumoral Calcinosis, Aliases & Descriptions:

Name: Familial Tumoral Calcinosis 41 47
Tumoral Calcinosis 41 47 60
Hypercalcemic Tumoral Calcinosis 47
 
Calcinosis, Tumoral 43
Galnt3-Cdg 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
familial tumoral calcinosis:
Inheritance: Autosomal recessive
tumoral calcinosis:
Inheritance: Autosomal recessive,Not applicable; Age of onset: Childhood


External Ids:

Orphanet47 306661, 53715
ICD10 via Orphanet26 M11.2
UMLS via Orphanet61 C0263628

Summaries for Familial Tumoral Calcinosis

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MalaCards based summary: Familial Tumoral Calcinosis, also known as tumoral calcinosis, is related to calcinosis and tumoral calcinosis, hyperphosphatemic, familial, 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 FGFR ligand binding and activation and Calcineurin-regulated NFAT-dependent transcription in lymphocytes. The compounds hydroxyapatite and tpck have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related mouse phenotypes are limbs/digits/tail and skeleton.

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 top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1calcinosis31.6FGF23, GALNT3, KL, SAMD9
2tumoral calcinosis, hyperphosphatemic, familial31.6FGF23, KL
3hyperostosis31.1FGF23, GALNT3
4hyperphosphatemia31.0KL, GALNT3, FGF23
5hyperparathyroidism30.5FGF23, KL
6arthropathy30.0FGF23, TNF
7cervicitis10.5
8tumoral calcinosis, familial, normophosphatemic10.5
9hyperphosphatemic familial tumoral calcinosis, galnt3-related10.4
10hyperphosphatemic familial tumoral calcinosis, fgf23-related10.4
11hyperphosphatemic familial tumoral calcinosis, kl-related10.4
12peritonitis10.4
13normocalcemic tumoral calcinosis10.3
14hypervitaminosis d10.3FGF23, KL
15pulmonary emphysema10.2FGF23, KL
16hypophosphatemia10.2KL, FGF23
17hypercalcemia10.2
18calciphylaxis10.2
19scleroderma10.2
20hypophosphatemic rickets, x-linked dominant10.2FGF23, GALNT3, KL
21osteomalacia10.2FGF23, KL
22testicular microlithiasis10.2
23cerebritis10.2
24osteomyelitis10.2
25chronic recurrent multifocal osteomyelitis10.2
26aneurysm10.2
27rheumatoid arthritis10.0
28caffey disease10.0
29hypoparathyroidism, sensorineural deafness, and renal dysplasia10.0
30alopecia10.0
31arthritis10.0
32keratopathy10.0
33sinusitis10.0
34thoracic outlet syndrome10.0
35ulnar neuropathy10.0
36band keratopathy10.0
37mixed connective tissue disease10.0
38hypoparathyroidism10.0
39crest syndrome10.0
40gout10.0
41renal osteodystrophy10.0
42connective tissue disease10.0
43lipomatosis10.0
44myositis10.0
45neuropathy10.0
46tuberculosis10.0
47castleman's disease10.0
48osteochondroma10.0
49renal dysplasia10.0
50atlantoaxial subluxation10.0

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:

 47 (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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Drug clinical trials:

Search ClinicalTrials for Familial Tumoral Calcinosis

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:

31
Skin, Eye, Bone, Kidney, Liver, Tongue, Heart

Animal Models for Familial Tumoral Calcinosis or affiliated genes

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MGI Mouse Phenotypes related to Familial Tumoral Calcinosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1TNF, KL, GALNT3, FGF23
2MP:00053908.5FGF23, EGR1, GALNT3, KL, TNF
3MP:00107718.4TNF, KL, GALNT3, EGR1, FGF23
4MP:00053858.4FGF23, EGR1, GALNT3, KL, TNF
5MP:00053898.1TNF, KL, GALNT3, EGR1, FGF23

Publications for Familial Tumoral Calcinosis

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Articles related to Familial Tumoral Calcinosis:

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

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1SAMD9NM_017654.3(SAMD9): c.4483A> G (p.Lys1495Glu)single nucleotide variantPathogenicrs121918554GRCh37Chr 7, 92730928: 92730928
2FGF23NM_020638.2(FGF23): c.211A> G (p.Ser71Gly)single nucleotide variantPathogenicrs104894342GRCh37Chr 12, 4488538: 4488538
3FGF23NM_020638.2(FGF23): c.287T> C (p.Met96Thr)single nucleotide variantPathogenicrs104894343GRCh37Chr 12, 4481788: 4481788
4FGF23NM_020638.2(FGF23): c.386C> T (p.Ser129Phe)single nucleotide variantPathogenicrs104894344GRCh37Chr 12, 4479879: 4479879
5GALNT3GALNT3, IVS7, G-A, +1single nucleotide variantPathogenic
6GALNT3NM_004482.3(GALNT3): c.484C> T (p.Arg162Ter)single nucleotide variantPathogenicrs137853086GRCh37Chr 2, 166626727: 166626727
7GALNT3GALNT3, IVS7DS, G-A, +5single nucleotide variantPathogenic
8GALNT3GALNT3, IVS1AS, A-T, -2single nucleotide variantPathogenic
9GALNT3NM_004482.3(GALNT3): c.1774C> T (p.Gln592Ter)single nucleotide variantPathogenicrs137853087GRCh37Chr 2, 166606257: 166606257
10GALNT3NM_004482.3(GALNT3): c.1076C> A (p.Thr359Lys)single nucleotide variantPathogenicrs137853091GRCh37Chr 2, 166615372: 166615372
11GALNT3NM_004482.3(GALNT3): c.966T> G (p.Tyr322Ter)single nucleotide variantPathogenicrs137853088GRCh37Chr 2, 166615953: 166615953
12GALNT3NM_004482.3(GALNT3): c.1441C> T (p.Gln481Ter)single nucleotide variantPathogenicrs137853089GRCh37Chr 2, 166611525: 166611525
13GALNT3NM_004482.3(GALNT3): c.815C> A (p.Thr272Lys)single nucleotide variantPathogenicrs137853090GRCh37Chr 2, 166618438: 166618438
14GALNT3GALNT3, 1-BP INS, 803CinsertionPathogenic
15GALNT3GALNT3, IVS8, G-A, +1single nucleotide variantPathogenic
16GALNT3GALNT3, 1-BP DEL, 677CdeletionPathogenic
17GALNT3NM_004482.3(GALNT3): c.1720T> G (p.Cys574Gly)single nucleotide variantPathogenicrs267606841GRCh37Chr 2, 166606311: 166606311

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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Compounds for genes affiliated with Familial Tumoral Calcinosis

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Sources:
43Novoseek, 59Tocris Bioscience, 24HMDB, 12DrugBank
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Compounds related to Familial Tumoral Calcinosis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1hydroxyapatite439.4FGF23, EGR1
2tpck439.4EGR1, TNF
3l-nmma439.3TNF, EGR1
4manganese superoxide439.2EGR1, TNF
5calcitriol43 59 24 1212.2FGF23, EGR1, TNF
615-deoxy-delta-12,14-prostaglandin j2439.0EGR1, 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:00900809.8FGF23, KL
2negative regulation of osteoblast differentiationGO:00456689.6FGF23, TNF
3positive regulation of neuron apoptotic processGO:00435259.3EGR1, TNF

Products for genes affiliated with Familial Tumoral Calcinosis

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  • Antibodies
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Sources for Familial Tumoral Calcinosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet