MCID: TMR011
MIFTS: 43

Tumoral Calcinosis, Hyperphosphatemic, Familial malady

Categories: Genetic diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Tumoral Calcinosis, Hyperphosphatemic, Familial

About this section

Aliases & Descriptions for Tumoral Calcinosis, Hyperphosphatemic, Familial:

Name: Tumoral Calcinosis, Hyperphosphatemic, Familial 49 45 67 65
Hyperphosphatemic Familial Tumoral Calcinosis 45 23 24
Hyperostosis-Hyperphosphatemia Syndrome 45 67 65
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
Primary Hyperphosphatemic Tumoral Calcinosis 23
 
Tumoral Calcinosis Primary Hyperphosphatemic 67
Hyperphosphatemia Hyperostosis Syndrome 23
Hyperphosphatemia Tumoral Calcinosis 23
Hyperphosphatemia Hyperostosis 23
Lipocalcinogranulomatosis 67
Teutschlaender Disease 67
Morbus Teutschlaender 67
Tumoral Calcinosis 65
Phptc 67

Characteristics:

HPO:

61
tumoral calcinosis, hyperphosphatemic, familial:
Onset and clinical course: juvenile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 211900
MedGen34 C1876187
UMLS65 C1853256, C1876187, C0263628

Summaries for Tumoral Calcinosis, Hyperphosphatemic, Familial

About this section
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 hyperphosphatemic familial tumoral calcinosis, fgf23-related and hyperphosphatemic familial tumoral calcinosis, galnt3-related, and has symptoms including conjunctival whitish salt-like deposits, hypoplasia of dental enamel and decreased renal tubular phosphate excretion. An important gene associated with Tumoral Calcinosis, Hyperphosphatemic, Familial is FGF23 (Fibroblast Growth Factor 23), and among its related pathways are FGFR3 mutant receptor activation and SHC-mediated cascade-FGFR4. Affiliated tissues include skin, bone and brain, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

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

About this section

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 33)
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
4familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome12.2
5hemochromatosis11.3
6hypotrichosis 111.2
7dyskeratosis congenita, x-linked11.2
8heart-hand syndrome, slovenian type11.2
9hypogonadotropic hypogonadism 7 without anosmia11.2
10hyperinsulinism-hyperammonemia syndrome10.9
11hypotrichosis simplex10.9
12hyperphosphatemia10.5
13hyperostosis10.5
14calcinosis10.1
15familial tumoral calcinosis10.1
16hypogonadotropic hypogonadism 2 with or without anosmia10.0
17breast cancer9.9
18hypogonadism9.9
19ossifying fibroma9.7FGF23, KL
20peroxisome biogenesis disorder 2a9.6FGF23, GALNT3
21distal arthrogryposis9.5FGF23, GALNT3
22leukodystrophy9.4FGF23, GALNT3
23thanatophoric dysplasia, type ii9.3FGF23, GALNT3
24sodium channelopathy-related small fiber neuropathy9.2FGF23, GALNT3, KL
25hypervitaminosis a9.2FGF23, GALNT3, KL
26familial visceral myopathy with external ophthalmoplegia9.2FGF23, GALNT3, KL
27congenital nervous system abnormality9.2FGF23, GALNT3, KL
28african tick-bite fever9.2FGF23, GALNT3, KL
29antley-bixler syndrome9.1FGF23, GALNT3, KL
30tuberous sclerosis-19.1FGF23, GALNT3, KL
31acute maxillary sinusitis9.1FGF23, GALNT3, KL
32secondary lacrimal atrophy9.1FGF23, GALNT3, KL
33tumoral calcinosis, hyperphosphatemic, familial8.7FGF23, GALNT3, KL, POMGNT2

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

About this section

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 conjunctival whitish salt-like deposits HP:0007799
2 hypoplasia of dental enamel HP:0006297
3 decreased renal tubular phosphate excretion HP:0005572
4 increased renal tubular phosphate reabsorption HP:0005571
5 vascular calcification HP:0004934
6 pulp stones HP:0003771
7 calcinosis HP:0003761
8 hyperphosphatemia HP:0002905
9 angioid streaks of the retina HP:0001102
10 abnormality of the skin HP:0000951
11 taurodontia HP:0000679
12 nephrocalcinosis HP:0000121

Drugs & Therapeutics for Tumoral Calcinosis, Hyperphosphatemic, Familial

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sevelamerapproved72152751-57-03085017
Synonyms:
Renagel
Renvela
Sevelamer
Sevelamer Carbonate
 
Sevelamero
Sevelamerum
Sévélamer
sevelamer carbonate
sevelamer hydrochloride
2
Alfacalcidolapproved, nutraceutical4341294-56-85282181
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
3Hydroxycholecalciferols92
4Contraceptives, Oral3734
5Bone Density Conservation Agents2600

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

About this section

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic, Familial

About this section

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

33
Skin, Bone, Brain, Retina, Breast, Heart, Myeloid

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

About this section

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7FGF23, GALNT3, KL
2MP:00053818.5FGF23, GALNT3, KL
3MP:00053678.4FGF23, GALNT3, KL
4MP:00053788.0FGF23, GALNT3, KL, POMGNT2

Publications for Tumoral Calcinosis, Hyperphosphatemic, Familial

About this section

Variations for Tumoral Calcinosis, Hyperphosphatemic, Familial

About this section

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 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

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

Pathways for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic, Familial

About this section

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

About this section

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathwayGO:00085439.6FGF23, GALNT3
2phosphatidylinositol-mediated signalingGO:00480159.6FGF23, KL
3epidermal growth factor receptor signaling pathwayGO:00071739.5FGF23, KL
4activation of MAPKK activityGO:00001869.1FGF23, KL
5Fc-epsilon receptor signaling pathwayGO:00380959.1FGF23, KL
6vascular endothelial growth factor receptor signaling pathwayGO:00480109.0FGF23, KL
7insulin receptor signaling pathwayGO:00082868.8FGF23, KL

Sources for Tumoral Calcinosis, Hyperphosphatemic, Familial

About this section
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