MCID: TMR011
MIFTS: 44

Tumoral Calcinosis, Hyperphosphatemic, Familial malady

Genetic diseases, Rare diseases, Cancer diseases categories

Aliases & Classifications for Tumoral Calcinosis, Hyperphosphatemic, Familial

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Aliases & Descriptions for Tumoral Calcinosis, Hyperphosphatemic, Familial:

Name: Tumoral Calcinosis, Hyperphosphatemic, Familial 49 45 65 67
Hyperphosphatemic Familial Tumoral Calcinosis 45 23 24
Hyperostosis-Hyperphosphatemia Syndrome 45 65 67
Tumoral Calcinosis, Hyperphosphatemic 49 11 47
Hftc 45 23 67
Cortical Hyperostosis with Hyperphosphatemia 45 67
Hyperostosis with Hyperphosphatemia 45 67
Hhs 45 67
Familial Tumoral Calcinosis with Hyperphosphatemia 67
 
Tumoral Calcinosis Primary Hyperphosphatemic 67
Primary Hyperphosphatemic Tumoral Calcinosis 23
Hyperphosphatemia Hyperostosis Syndrome 23
Hyperphosphatemia Tumoral Calcinosis 23
Hyperphosphatemia Hyperostosis 23
Lipocalcinogranulomatosis 67
Teutschlaender Disease 67
Morbus Teutschlaender 67
Phptc 67


Classifications:



External Ids:

OMIM49 211900
MedGen34 C1876187

Summaries for Tumoral Calcinosis, Hyperphosphatemic, Familial

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OMIM:49 Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the... (211900) more...

MalaCards based summary: Tumoral Calcinosis, Hyperphosphatemic, Familial, also known as hyperphosphatemic familial tumoral calcinosis, is related to physical disorder and hyperphosphatemia, and has symptoms including autosomal recessive inheritance, nephrocalcinosis and taurodontia. An important gene associated with Tumoral Calcinosis, Hyperphosphatemic, Familial is FGF23 (Fibroblast Growth Factor 23), and among its related pathways are mTOR signalling and SHC-mediated cascade-FGFR1. Affiliated tissues include skin, bone and brain, and related mouse phenotypes are other and skeleton.

Genetics Home Reference:23 Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. Calcinosis typically develops in early childhood to early adulthood, although in some people the deposits first appear in infancy or in late adulthood. Calcinosis usually occurs in and just under skin tissue around the joints, most often the hips, shoulders, and elbows. Calcinosis may also develop in the soft tissue of the feet, legs, and hands. Rarely, calcinosis occurs in blood vessels or in the brain and can cause serious health problems. The deposits develop over time and vary in size. Larger deposits form masses that are noticeable under the skin and can interfere with the function of joints and impair movement. These large deposits may appear tumor-like (tumoral), but they are not tumors or cancerous. The number and frequency of deposits varies among affected individuals; some develop few deposits during their lifetime, while others may develop many in a short period of time.

UniProtKB/Swiss-Prot:67 Tumoral calcinosis, hyperphosphatemic, familial: A severe metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients manifest recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement.

Related Diseases for Tumoral Calcinosis, Hyperphosphatemic, Familial

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Diseases in the Tumoral Calcinosis, Hyperphosphatemic, Familial family:

Hyperphosphatemic Familial Tumoral Calcinosis, Fgf23-Related Hyperphosphatemic Familial Tumoral Calcinosis, Galnt3-Related
Hyperphosphatemic Familial Tumoral Calcinosis, Kl-Related

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

(show top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1physical disorder29.4FGF23, GALNT3, KL
2hyperphosphatemia10.7
3hyperostosis10.7
4hyperphosphatemic familial tumoral calcinosis, fgf23-related10.6
5hyperphosphatemic familial tumoral calcinosis, galnt3-related10.6
6hyperphosphatemic familial tumoral calcinosis, kl-related10.6
7tumoral calcinosis10.5
8dentin dysplasia10.4
9angioid streaks10.4
10calcinosis10.4
11osteomyelitis10.4
12chronic recurrent multifocal osteomyelitis10.4
13familial tumoral calcinosis10.4
14hypotrichosis 110.3
15hypogonadotropic hypogonadism 2 with or without anosmia10.2
16hemochromatosis10.2
17dyskeratosis congenita, x-linked10.2
18hypogonadotropism10.2
19hypogonadism10.2
20heart-hand syndrome, slovenian type10.1
21dyskeratosis congenita, autosomal dominant 110.1
22hypogonadotropic hypogonadism 7 without anosmia10.1
23dyskeratosis congenita, autosomal recessive 510.1
24kallmann syndrome10.1
25basal cell carcinoma10.1
26isolated gonadotropin-releasing hormone deficiency10.1
27medulloblastoma9.9
28hiv-19.9
29hypogonadotropic hypogonadism 13 with or without anosmia9.9
30hepatocellular carcinoma9.9
31hypogonadotropic hypogonadism 15 with or without anosmia9.9
32asthma9.9
33breast cancer9.9
34hypogonadotropic hypogonadism 4 with or without anosmia9.9
35hypogonadotropic hypogonadism 18 with or without anosmia9.9
36hypogonadotropic hypogonadism 11 with or without anosmia9.9
37hypogonadotropic hypogonadism 17 with or without anosmia9.9
38asthma 29.9
39hypogonadotropic hypogonadism 16 with or without anosmia9.9
40hemochromatosis, type 39.9
41hypogonadotropic hypogonadism with or without anosmia9.9
42hypogonadotropic hypogonadism 20 with or without anosmia9.9
43hypogonadotropic hypogonadism 12 with or without anosmia9.9
44hypogonadotropic hypogonadism 5 with or without anosmia9.9
45hypogonadotropic hypogonadism 9 with or without anosmia9.9
46hypogonadotropic hypogonadism 6 with or without anosmia9.9
47hypogonadotropic hypogonadism 14 with or without anosmia9.9
48hypogonadotropic hypogonadism 10 with or without anosmia9.9
49hypogonadotropic hypogonadism 19 with or without anosmia9.9
50asthma 19.9

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



Diseases related to tumoral calcinosis, hyperphosphatemic, familial

Symptoms for Tumoral Calcinosis, Hyperphosphatemic, Familial

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Symptoms by clinical synopsis from OMIM:

211900

Clinical features from OMIM:

211900

HPO human phenotypes related to Tumoral Calcinosis, Hyperphosphatemic, Familial:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 nephrocalcinosis HP:0000121
3 taurodontia HP:0000679
4 abnormality of the skin HP:0000951
5 angioid streaks of the retina HP:0001102
6 hyperphosphatemia HP:0002905
7 juvenile onset HP:0003621
8 calcinosis HP:0003761
9 pulp stones HP:0003771
10 vascular calcification HP:0004934
11 increased renal tubular phosphate reabsorption HP:0005571
12 decreased renal tubular phosphate excretion HP:0005572
13 hypoplasia of dental enamel HP:0006297
14 conjunctival whitish salt-like deposits HP:0007799

Drugs & Therapeutics for Tumoral Calcinosis, Hyperphosphatemic, Familial

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sevelamerapproved69152751-57-03085017
Synonyms:
Renagel
Renvela
Sevelamer
Sevelamer Carbonate
 
Sevelamero
Sevelamerum
Sévélamer
sevelamer carbonate
sevelamer hydrochloride
2
Alfacalcidolapproved, nutraceutical4041294-56-85282181
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
3Hydroxycholecalciferols88

Interventional clinical trials:

idNameStatusNCT IDPhase
1Hypophosphatemic Rickets in NorwayActive, not recruitingNCT01057186

Search NIH Clinical Center for Tumoral Calcinosis, Hyperphosphatemic, Familial

Genetic Tests for Tumoral Calcinosis, Hyperphosphatemic, Familial

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Genetic tests related to Tumoral Calcinosis, Hyperphosphatemic, Familial:

id Genetic test Affiliating Genes
1 Tumoral Calcinosis, Familial, Hyperphosphatemic24

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic, Familial

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MalaCards organs/tissues related to Tumoral Calcinosis, Hyperphosphatemic, Familial:

33
Skin, Bone, Brain, Retina

Animal Models for Tumoral Calcinosis, Hyperphosphatemic, Familial or affiliated genes

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MGI Mouse Phenotypes related to Tumoral Calcinosis, Hyperphosphatemic, Familial:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.1GALNT3, KL
2MP:00053908.8FGF23, GALNT3, KL
3MP:00053718.8FGF23, GALNT3, KL
4MP:00053818.7FGF23, GALNT3, KL
5MP:00053678.6FGF23, GALNT3, KL
6MP:00053898.5FGF23, GALNT3, KL
7MP:00053858.4FGF23, GALNT3, KL
8MP:00107718.2FGF23, GALNT3, KL

Publications for Tumoral Calcinosis, Hyperphosphatemic, Familial

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Variations for Tumoral Calcinosis, Hyperphosphatemic, Familial

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UniProtKB/Swiss-Prot genetic disease variations for Tumoral Calcinosis, Hyperphosphatemic, Familial:

67
id Symbol AA change Variation ID SNP ID
1FGF23p.Ser71GlyVAR_023831
2FGF23p.Met96ThrVAR_071711
3FGF23p.Ser129PheVAR_071712
4FGF23p.Phe157LeuVAR_071713
5KLp.His193ArgVAR_064554

Clinvar genetic disease variations for Tumoral Calcinosis, Hyperphosphatemic, Familial:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1FGF23NM_020638.2(FGF23): c.260G> A (p.Gly87Asp)single nucleotide variantLikely pathogenicGRCh38Chr 12, 4372649: 4372649
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
5GALNT3NM_004482.3(GALNT3): c.1524+1G> Asingle nucleotide variantPathogenicrs745655924GRCh38Chr 2, 165754931: 165754931
6GALNT3NM_004482.3(GALNT3): c.484C> T (p.Arg162Ter)single nucleotide variantPathogenicrs137853086GRCh37Chr 2, 166626727: 166626727
7GALNT3NM_004482.3(GALNT3): c.1524+5G> Asingle nucleotide variantPathogenicrs375879489GRCh38Chr 2, 165754927: 165754927
8GALNT3NM_004482.3(GALNT3): c.516_688delsingle nucleotide variantPathogenicrs761396172GRCh38Chr 2, 165765058: 165765058
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
14GALNT3NM_004482.3(GALNT3): c.803dupC (p.Thr269Asnfs)duplicationPathogenicrs766750282GRCh37Chr 2, 166618450: 166618450
15GALNT3NM_004482.3(GALNT3): c.1525_1626delsingle nucleotide variantPathogenicrs760830864GRCh38Chr 2, 165754626: 165754626
16GALNT3NM_004482.3(GALNT3): c.677delC (p.Ala226Valfs)deletionPathogenicrs786205250GRCh37Chr 2, 166621405: 166621405
17GALNT3NM_004482.3(GALNT3): c.1720T> G (p.Cys574Gly)single nucleotide variantPathogenicrs267606841GRCh37Chr 2, 166606311: 166606311

Expression for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic, Familial

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

Pathways for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic, Familial

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GO Terms for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic, Familial

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.0FGF23, KL
2phosphatidylinositol-mediated signalingGO:00480159.8FGF23, KL
3MAPK cascadeGO:00001659.6FGF23, KL
4activation of MAPKK activityGO:00001869.5FGF23, KL
5Ras protein signal transductionGO:00072659.5FGF23, KL
6insulin receptor signaling pathwayGO:00082869.4FGF23, KL
7fibroblast growth factor receptor signaling pathwayGO:00085439.4FGF23, KL
8Fc-epsilon receptor signaling pathwayGO:00380959.3FGF23, KL
9vascular endothelial growth factor receptor signaling pathwayGO:00480109.3FGF23, KL
10epidermal growth factor receptor signaling pathwayGO:00071739.0FGF23, KL

Sources for Tumoral Calcinosis, Hyperphosphatemic, Familial

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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