MCID: TMR011
MIFTS: 46

Tumoral Calcinosis, Hyperphosphatemic, Familial malady

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

Aliases & Classifications for Tumoral Calcinosis, Hyperphosphatemic, Familial

About this section

Aliases & Descriptions for Tumoral Calcinosis, Hyperphosphatemic, Familial:

Name: Tumoral Calcinosis, Hyperphosphatemic, Familial 51 47 69 67
Hyperphosphatemic Familial Tumoral Calcinosis 47 25 26
Hyperostosis-Hyperphosphatemia Syndrome 47 69 67
Tumoral Calcinosis, Hyperphosphatemic 51 12 49
Hftc 47 25 69
Cortical Hyperostosis with Hyperphosphatemia 47 69
Hyperostosis with Hyperphosphatemia 47 69
Hhs 47 69
Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome 53
Familial Tumoral Calcinosis with Hyperphosphatemia 69
Tumoral Calcinosis Primary Hyperphosphatemic 69
 
Primary Hyperphosphatemic Tumoral Calcinosis 25
Hyperphosphatemia Hyperostosis Syndrome 25
Hyperphosphatemia Tumoral Calcinosis 25
Hypercalcemic Tumoral Calcinosis 53
Hyperphosphatemia Hyperostosis 25
Lipocalcinogranulomatosis 69
Teutschlaender Disease 69
Morbus Teutschlaender 69
Tumoral Calcinosis 67
Phptc 69

Characteristics:

Orphanet epidemiological data:

53

HPO:

63
tumoral calcinosis, hyperphosphatemic, familial:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM51 211900
Orphanet53 ORPHA306661
ICD10 via Orphanet30 M11.2
MedGen36 C1876187

Summaries for Tumoral Calcinosis, Hyperphosphatemic, Familial

About this section
OMIM:51 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 Negative regulation of FGFR1 signaling. Affiliated tissues include skin, bone and brain, and related mouse phenotypes are digestive/alimentary and endocrine/exocrine gland.

UniProtKB/Swiss-Prot:69 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.

Genetics Home Reference:25 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.

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 top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphosphatemic familial tumoral calcinosis, fgf23-related12.2
2hyperphosphatemic familial tumoral calcinosis, galnt3-related12.2
3hyperphosphatemic familial tumoral calcinosis, kl-related12.2
4hypotrichosis 111.4
5dyskeratosis congenita, x-linked11.4
6heart-hand syndrome, slovenian type11.3
7hypogonadotropic hypogonadism 7 without anosmia11.3
8hemochromatosis11.2
9hypogonadotropic hypogonadism 2 with or without anosmia10.9
10dyskeratosis congenita, autosomal dominant 110.8
11dyskeratosis congenita, autosomal recessive 510.8
12hyperinsulinism-hyperammonemia syndrome10.7
13hypotrichosis simplex10.7
14hypogonadotropic hypogonadism 13 with or without anosmia10.6
15hypogonadotropic hypogonadism 15 with or without anosmia10.6
16hypogonadotropic hypogonadism 4 with or without anosmia10.6
17hypogonadotropic hypogonadism 18 with or without anosmia10.6
18hypogonadotropic hypogonadism 11 with or without anosmia10.6
19hypogonadotropic hypogonadism 17 with or without anosmia10.6
20hypogonadotropic hypogonadism 16 with or without anosmia10.6
21hypogonadotropic hypogonadism with or without anosmia10.6
22hypogonadotropic hypogonadism 20 with or without anosmia10.6
23hypogonadotropic hypogonadism 12 with or without anosmia10.6
24hypogonadotropic hypogonadism 5 with or without anosmia10.6
25hypogonadotropic hypogonadism 9 with or without anosmia10.6
26hypogonadotropic hypogonadism 6 with or without anosmia10.6
27hypogonadotropic hypogonadism 14 with or without anosmia10.6
28hypogonadotropic hypogonadism 10 with or without anosmia10.6
29hypogonadotropic hypogonadism 19 with or without anosmia10.6
30hypogonadotropic hypogonadism 8 with or without anosmia10.6
31hypogonadotropic hypogonadism 3 with or without anosmia10.6
32hypogonadotropic hypogonadism 21 with anosmia10.6
33hyperphosphatemia10.4
34hyperostosis10.4
35calcinosis10.0
36familial tumoral calcinosis10.0
37peroxisome biogenesis disorder 2a9.9FGF23, GALNT3
38atelosteogenesis9.9FGF23, GALNT3
39mild pre-eclampsia9.9FGF23, GALNT3
40breast cancer9.8
41hypogonadism9.8
42thanatophoric dysplasia, type ii9.8FGF23, GALNT3
43azoospermia9.7FGF23, KL
44angelucci's syndrome9.6FGF23, KL
45commensal bacterial infectious disease9.6FGF23, KL
46chronic myelomonocytic leukemia9.5FGF23, KL
47interval angle-closure glaucoma9.4FGF23, KL
48substance dependence9.3FGF23, GALNT3, KL
49familial wilms tumor 29.3FGF23, GALNT3, KL
50capillariasis9.3FGF23, GALNT3, 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

About this section

Symptoms by clinical synopsis from OMIM:

211900

Clinical features from OMIM:

211900

Human phenotypes related to Tumoral Calcinosis, Hyperphosphatemic, Familial:

 63 (show all 12)
id Description HPO Frequency HPO Source Accession
1 nephrocalcinosis63 HP:0000121
2 taurodontia63 HP:0000679
3 abnormality of the skin63 HP:0000951
4 angioid streaks of the retina63 HP:0001102
5 hyperphosphatemia63 HP:0002905
6 calcinosis63 HP:0003761
7 pulp stones63 HP:0003771
8 vascular calcification63 HP:0004934
9 increased renal tubular phosphate reabsorption63 HP:0005571
10 decreased renal tubular phosphate excretion63 HP:0005572
11 hypoplasia of dental enamel63 HP:0006297
12 conjunctival whitish salt-like deposits63 HP:0007799

Drugs & Therapeutics for Tumoral Calcinosis, Hyperphosphatemic, Familial

About this section

Drugs for Tumoral Calcinosis, Hyperphosphatemic, Familial (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
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

Genetic tests related to Tumoral Calcinosis, Hyperphosphatemic, Familial:

id Genetic test Affiliating Genes
1 Tumoral Calcinosis, Familial, Hyperphosphatemic26

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic, Familial

About this section

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

35
Skin, Bone, Brain, Retina

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

About this section

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.3FGF23, GALNT3, KL
2MP:00053799.3FGF23, GALNT3, KL
3MP:00107719.3FGF23, GALNT3, KL
4MP:00053719.3FGF23, GALNT3, KL
5MP:00053679.3FGF23, GALNT3, KL
6MP:00053899.3FGF23, GALNT3, KL
7MP:00053908.5FGF23, GALNT3, KL

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:

69
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)SNVLikely pathogenicrs863224872GRCh38Chr 12, 4372649: 4372649
2FGF23NM_020638.2(FGF23): c.211A> G (p.Ser71Gly)SNVPathogenicrs104894342GRCh37Chr 12, 4488538: 4488538
3FGF23NM_020638.2(FGF23): c.287T> C (p.Met96Thr)SNVPathogenicrs104894343GRCh37Chr 12, 4481788: 4481788
4FGF23NM_020638.2(FGF23): c.386C> T (p.Ser129Phe)SNVPathogenicrs104894344GRCh37Chr 12, 4479879: 4479879
5GALNT3NM_004482.3(GALNT3): c.1524+1G> ASNVPathogenicrs745655924GRCh38Chr 2, 165754931: 165754931
6GALNT3NM_004482.3(GALNT3): c.484C> T (p.Arg162Ter)SNVPathogenicrs137853086GRCh37Chr 2, 166626727: 166626727
7GALNT3NM_004482.3(GALNT3): c.1524+5G> ASNVPathogenicrs375879489GRCh38Chr 2, 165754927: 165754927
8GALNT3NM_004482.3(GALNT3): c.516_688delSNVPathogenicrs761396172GRCh38Chr 2, 165765058: 165765058
9GALNT3NM_004482.3(GALNT3): c.1774C> T (p.Gln592Ter)SNVPathogenicrs137853087GRCh37Chr 2, 166606257: 166606257
10GALNT3NM_004482.3(GALNT3): c.1076C> A (p.Thr359Lys)SNVPathogenicrs137853091GRCh37Chr 2, 166615372: 166615372
11GALNT3NM_004482.3(GALNT3): c.966T> G (p.Tyr322Ter)SNVPathogenicrs137853088GRCh37Chr 2, 166615953: 166615953
12GALNT3NM_004482.3(GALNT3): c.1441C> T (p.Gln481Ter)SNVPathogenicrs137853089GRCh37Chr 2, 166611525: 166611525
13GALNT3NM_004482.3(GALNT3): c.815C> A (p.Thr272Lys)SNVPathogenicrs137853090GRCh37Chr 2, 166618438: 166618438
14GALNT3NM_004482.3(GALNT3): c.803dupC (p.Thr269Asnfs)duplicationPathogenicrs766750282GRCh37Chr 2, 166618450: 166618450
15GALNT3NM_004482.3(GALNT3): c.1525_1626delSNVPathogenicrs760830864GRCh38Chr 2, 165754626: 165754626
16GALNT3NM_004482.3(GALNT3): c.677delC (p.Ala226Valfs)deletionPathogenicrs786205250GRCh37Chr 2, 166621405: 166621405
17GALNT3NM_004482.3(GALNT3): c.1720T> G (p.Cys574Gly)SNVPathogenicrs267606841GRCh37Chr 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 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:00468549.8FGF23, KL
4regulation of phosphatidylinositol 3-kinase signalingGO:00140669.8FGF23, KL
5phosphatidylinositol-mediated signalingGO:00480159.6FGF23, KL
6carbohydrate metabolic processGO:00059759.1GALNT3, KL
7MAPK cascadeGO:00001659.0FGF23, KL
8fibroblast growth factor receptor signaling pathwayGO:00085438.8FGF23, 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

About this section
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