MCID: TMR011
MIFTS: 45

Tumoral Calcinosis, Hyperphosphatemic, Familial malady

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

Aliases & Classifications for Tumoral Calcinosis, Hyperphosphatemic, Familial

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Aliases & Descriptions for Tumoral Calcinosis, Hyperphosphatemic, Familial:

Name: Tumoral Calcinosis, Hyperphosphatemic, Familial 50 46 68 66
Hyperphosphatemic Familial Tumoral Calcinosis 46 24 25
Hyperostosis-Hyperphosphatemia Syndrome 46 68 66
Tumoral Calcinosis, Hyperphosphatemic 50 12 48
Hftc 46 24 68
Cortical Hyperostosis with Hyperphosphatemia 46 68
Hyperostosis with Hyperphosphatemia 46 68
Hhs 46 68
Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome 52
Familial Tumoral Calcinosis with Hyperphosphatemia 68
 
Tumoral Calcinosis Primary Hyperphosphatemic 68
Primary Hyperphosphatemic Tumoral Calcinosis 24
Hyperphosphatemia Hyperostosis Syndrome 24
Hyperphosphatemia Tumoral Calcinosis 24
Hypercalcemic Tumoral Calcinosis 52
Hyperphosphatemia Hyperostosis 24
Lipocalcinogranulomatosis 68
Teutschlaender Disease 68
Morbus Teutschlaender 68
Phptc 68

Characteristics:

Orphanet epidemiological data:

52

HPO:

62
tumoral calcinosis, hyperphosphatemic, familial:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset


Classifications:



External Ids:

OMIM50 211900
Orphanet52 ORPHA306661
ICD10 via Orphanet29 M11.2
MedGen35 C1876187

Summaries for Tumoral Calcinosis, Hyperphosphatemic, Familial

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OMIM:50 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 hyperphosphatemic familial tumoral calcinosis, fgf23-related and hyperphosphatemic familial tumoral calcinosis, galnt3-related, and has symptoms including nephrocalcinosis, taurodontia and abnormality of the skin. 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-FGFR4. Affiliated tissues include skin, bone and brain, and related mouse phenotypes are integument and reproductive system.

Genetics Home Reference:24 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:68 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 all 39)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphosphatemic familial tumoral calcinosis, fgf23-related12.3
2hyperphosphatemic familial tumoral calcinosis, galnt3-related12.3
3hyperphosphatemic familial tumoral calcinosis, kl-related12.3
4hemochromatosis11.3
5hypotrichosis 111.2
6dyskeratosis congenita, x-linked11.2
7heart-hand syndrome, slovenian type11.2
8hypogonadotropic hypogonadism 7 without anosmia11.2
9hyperinsulinism-hyperammonemia syndrome10.9
10hypotrichosis simplex10.9
11hyperphosphatemia10.5
12hyperostosis10.5
13calcinosis10.1
14familial tumoral calcinosis10.1
15hypogonadotropic hypogonadism 2 with or without anosmia10.0
16hypothalamic hamartomas10.0
17breast cancer9.9
18hypogonadism9.9
19peroxisome biogenesis disorder 2a9.9FGF23, GALNT3
20atelosteogenesis9.9FGF23, GALNT3
21mild pre-eclampsia9.9FGF23, GALNT3
22thanatophoric dysplasia, type ii9.8FGF23, GALNT3
23azoospermia9.7FGF23, KL
24angelucci's syndrome9.6FGF23, KL
25commensal bacterial infectious disease9.5FGF23, KL
26chronic myelomonocytic leukemia9.4FGF23, KL
27chylomicron retention disease9.4FGF23, KL
28mononeuritis9.3FGF23, KL
29substance dependence9.2FGF23, GALNT3, KL
30tumoral calcinosis, hyperphosphatemic, familial9.2FGF23, GALNT3, KL
31familial wilms tumor 29.2FGF23, GALNT3, KL
32capillariasis9.2FGF23, GALNT3, KL
33sensory peripheral neuropathy9.2FGF23, GALNT3, KL
34loeys-dietz syndrome9.2FGF23, GALNT3, KL
35astrakhan spotted fever9.2FGF23, GALNT3, KL
36tuberous sclerosis-19.2FGF23, GALNT3, KL
37maxillary sinusitis9.2FGF23, GALNT3, KL
38status epilepticus9.2FGF23, GALNT3, KL
39interval angle-closure glaucoma9.1FGF23, KL

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 12)
id Description Frequency HPO Source Accession
1 nephrocalcinosis HP:0000121
2 taurodontia HP:0000679
3 abnormality of the skin HP:0000951
4 angioid streaks of the retina HP:0001102
5 hyperphosphatemia HP:0002905
6 calcinosis HP:0003761
7 pulp stones HP:0003771
8 vascular calcification HP:0004934
9 increased renal tubular phosphate reabsorption HP:0005571
10 decreased renal tubular phosphate excretion HP:0005572
11 hypoplasia of dental enamel HP:0006297
12 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
Sevelamer7352757-95-6, 152751-57-03085017
Synonyms:
Sevelamer
 
Sevelamero
Sevelamerum
Sévélamer
2
Alfacalcidol5041294-56-85282181
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

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, Hyperphosphatemic25

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic, Familial

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

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8FGF23, GALNT3, KL
2MP:00053898.7FGF23, GALNT3, KL
3MP:00053818.6FGF23, GALNT3, KL
4MP:00053798.5FGF23, GALNT3, KL
5MP:00053908.5FGF23, GALNT3, KL
6MP:00053678.4FGF23, GALNT3, KL
7MP:00053718.2FGF23, 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:

68
id Symbol AA change Variation ID SNP ID
1FGF23p.Ser71GlyVAR_023831rs104894342
2FGF23p.Met96ThrVAR_071711rs104894343
3FGF23p.Ser129PheVAR_071712rs104894344
4FGF23p.Phe157LeuVAR_071713rs772964687
5KLp.His193ArgVAR_064554rs121908423

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 pathogenicrs863224872GRCh38Chr 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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Pathways related to Tumoral Calcinosis, Hyperphosphatemic, Familial according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3FGF23, KL
2
Show member pathways
9.3FGF23, KL
3
Show member pathways
9.3FGF23, KL
4
Show member pathways
9.0FGF23, GALNT3

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 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.0FGF23, KL
2phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.8FGF23, KL
3phosphatidylinositol phosphorylationGO:00468549.7FGF23, KL
4regulation of phosphatidylinositol 3-kinase signalingGO:00140669.7FGF23, KL
5phosphatidylinositol-mediated signalingGO:00480159.6FGF23, KL
6carbohydrate metabolic processGO:00059759.1GALNT3, KL
7MAPK cascadeGO:00001659.0FGF23, KL
8fibroblast growth factor receptor signaling pathwayGO:00085438.7FGF23, GALNT3, KL

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

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:00163039.7FGF23, KL
2phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.4FGF23, KL
3Ras guanyl-nucleotide exchange factor activityGO:00050889.3FGF23, KL

Sources for Tumoral Calcinosis, Hyperphosphatemic, Familial

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet