HFTC
MCID: TMR011
MIFTS: 46

Tumoral Calcinosis, Hyperphosphatemic, Familial (HFTC) 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 52 48 70 68
Hyperphosphatemic Familial Tumoral Calcinosis 11 48 25 27
Hftc 11 48 25 70
Cortical Hyperostosis with Hyperphosphatemia 11 48 70
Hyperostosis-Hyperphosphatemia Syndrome 48 70 68
Tumoral Calcinosis, Hyperphosphatemic 52 12 50
Hyperostosis with Hyperphosphatemia 11 48 70
Hhs 11 48 70
Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome 11 54
Primary Hyperphosphatemic Tumoral Calcinosis 11 25
Hyperphosphatemia Hyperostosis Syndrome 11 25
Hyperphosphatemia Tumoral Calcinosis 11 25
 
Hypercalcemic Tumoral Calcinosis 11 54
Hyperphosphatemia Hyperostosis 11 25
Lipocalcinogranulomatosis 11 70
Morbus Teutschlaender 11 70
Phptc 11 70
Familial Tumoral Calcinosis with Hyperphosphatemia 70
Tumoral Calcinosis Primary Hyperphosphatemic 70
Tumoral Calcinosis with Hyperphosphatemia 11
Familial Teutschlaender Disease 11
Teutschlaender Disease 70
Tumoral Calcinosis 68

Characteristics:

Orphanet epidemiological data:

54

HPO:

64
tumoral calcinosis, hyperphosphatemic, familial:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM52 211900
Disease Ontology11 DOID:0111063
ICD1030 M11.2
Orphanet54 ORPHA306661
ICD10 via Orphanet31 M11.2
MedGen37 C1876187

Summaries for Tumoral Calcinosis, Hyperphosphatemic, Familial

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OMIM:52 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 calcinosis and hyperphosphatemic familial tumoral calcinosis, fgf23-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 Signaling by activated point mutants of FGFR3 and O-linked glycosylation. Affiliated tissues include skin, bone and brain, and related mouse phenotypes are limbs/digits/tail and renal/urinary system.

Disease Ontology:11 A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has material basis in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.

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.

UniProtKB/Swiss-Prot:70 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 66)
idRelated DiseaseScoreTop Affiliating Genes
1calcinosis30.7FGF23, KL
2hyperphosphatemic familial tumoral calcinosis, fgf23-related12.2
3hyperphosphatemic familial tumoral calcinosis, galnt3-related12.2
4hyperphosphatemic familial tumoral calcinosis, kl-related12.2
5hypotrichosis 111.5
6dyskeratosis congenita, x-linked11.4
7heart-hand syndrome, slovenian type11.3
8hypogonadotropic hypogonadism 7 without anosmia11.3
9hemochromatosis11.2
10hypogonadotropic hypogonadism 2 with or without anosmia10.9
11hypothalamic hamartomas10.9
12dyskeratosis congenita, autosomal dominant 110.8
13dyskeratosis congenita, autosomal recessive 510.8
14kallmann syndrome10.8
15hyperinsulinism-hyperammonemia syndrome10.7
16hypotrichosis simplex10.7
17hypogonadotropic hypogonadism 13 with or without anosmia10.6
18hypogonadotropic hypogonadism 15 with or without anosmia10.6
19hypogonadotropic hypogonadism 4 with or without anosmia10.6
20hypogonadotropic hypogonadism 18 with or without anosmia10.6
21hypogonadotropic hypogonadism 11 with or without anosmia10.6
22hypogonadotropic hypogonadism 17 with or without anosmia10.6
23hypogonadotropic hypogonadism 16 with or without anosmia10.6
24hypogonadotropic hypogonadism with or without anosmia10.6
25hypogonadotropic hypogonadism 20 with or without anosmia10.6
26hypogonadotropic hypogonadism 12 with or without anosmia10.6
27hypogonadotropic hypogonadism 5 with or without anosmia10.6
28hypogonadotropic hypogonadism 9 with or without anosmia10.6
29hypogonadotropic hypogonadism 6 with or without anosmia10.6
30hypogonadotropic hypogonadism 14 with or without anosmia10.6
31hypogonadotropic hypogonadism 10 with or without anosmia10.6
32hypogonadotropic hypogonadism 19 with or without anosmia10.6
33hypogonadotropic hypogonadism 8 with or without anosmia10.6
34hypogonadotropic hypogonadism 3 with or without anosmia10.6
35hypogonadotropic hypogonadism 21 with anosmia10.6
36familial tumoral calcinosis10.2
37oligospermia10.0FGF23, KL
38coffin-lowry syndrome9.9FGF23, KL
39peroxisome biogenesis disorder 2b9.9FGF23, GALNT3
40post-traumatic stress disorder9.8FGF23, GALNT3
41breast cancer9.8
42hyperphosphatemia9.8
43hypogonadism9.8
44hyperostosis9.8
45hypogonadotropism9.8
46saddan9.8FGF23, GALNT3
47allergic urticaria9.8FGF23, KL
48orbit lymphoma9.7FGF23, GALNT3, KL
49gastric antral vascular ectasia9.7FGF23, GALNT3, KL
50weill-marchesani syndrome9.7FGF23, GALNT3, KL

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



Diseases related to tumoral calcinosis, hyperphosphatemic, familial

Symptoms & Phenotypes for Tumoral Calcinosis, Hyperphosphatemic, Familial

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Symptoms by clinical synopsis from OMIM:

211900

Clinical features from OMIM:

211900

Human phenotypes related to Tumoral Calcinosis, Hyperphosphatemic, Familial:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 nephrocalcinosis64 HP:0000121
2 taurodontia64 HP:0000679
3 abnormality of the skin64 HP:0000951
4 angioid streaks of the retina64 HP:0001102
5 hyperphosphatemia64 HP:0002905
6 calcinosis64 HP:0003761
7 pulp stones64 HP:0003771
8 vascular calcification64 HP:0004934
9 increased renal tubular phosphate reabsorption64 HP:0005571
10 decreased renal tubular phosphate excretion64 HP:0005572
11 hypoplasia of dental enamel64 HP:0006297
12 conjunctival whitish salt-like deposits64 HP:0007799

MGI Mouse Phenotypes related to Tumoral Calcinosis, Hyperphosphatemic, Familial according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2FGF23, GALNT3, KL
2MP:00053678.5FGF23, GALNT3, KL

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):

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sevelamerapproved7452757-95-6, 152751-57-03085017
Synonyms:
Sevelamer
 
Sevelamero
Sevelamerum
Sévélamer
2
Alfacalcidolapproved, nutraceutical6141294-56-85282181
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
3Vitamins5282
4Trace Elements6001
5Hydroxycholecalciferols129
6Bone Density Conservation Agents3376
7Chelating Agents1423
8Micronutrients6001

Interventional clinical trials:

idNameStatusNCT IDPhase
1Hypophosphatemic Rickets in NorwayActive, not recruitingNCT01057186

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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, Hyperphosphatemic27

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic, Familial

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

36
Skin, Bone, Brain, Retina

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:

70
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 16)
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.287T> C (p.Met96Thr)SNVPathogenicrs104894343GRCh37Chr 12, 4481788: 4481788
3FGF23NM_ 020638.2(FGF23): c.386C> T (p.Ser129Phe)SNVPathogenicrs104894344GRCh37Chr 12, 4479879: 4479879
4GALNT3NM_ 004482.3(GALNT3): c.1524+1G> ASNVPathogenicrs745655924GRCh38Chr 2, 165754931: 165754931
5GALNT3NM_ 004482.3(GALNT3): c.484C> T (p.Arg162Ter)SNVPathogenicrs137853086GRCh37Chr 2, 166626727: 166626727
6GALNT3NM_ 004482.3(GALNT3): c.1524+5G> ASNVPathogenicrs375879489GRCh38Chr 2, 165754927: 165754927
7GALNT3NM_ 004482.3(GALNT3): c.516_ 688delSNVPathogenicrs761396172GRCh38Chr 2, 165765058: 165765058
8GALNT3NM_ 004482.3(GALNT3): c.1774C> T (p.Gln592Ter)SNVPathogenicrs137853087GRCh37Chr 2, 166606257: 166606257
9GALNT3NM_ 004482.3(GALNT3): c.1076C> A (p.Thr359Lys)SNVPathogenicrs137853091GRCh37Chr 2, 166615372: 166615372
10GALNT3NM_ 004482.3(GALNT3): c.966T> G (p.Tyr322Ter)SNVPathogenicrs137853088GRCh37Chr 2, 166615953: 166615953
11GALNT3NM_ 004482.3(GALNT3): c.1441C> T (p.Gln481Ter)SNVPathogenicrs137853089GRCh37Chr 2, 166611525: 166611525
12GALNT3NM_ 004482.3(GALNT3): c.815C> A (p.Thr272Lys)SNVPathogenicrs137853090GRCh37Chr 2, 166618438: 166618438
13GALNT3NM_ 004482.3(GALNT3): c.803dupC (p.Thr269Asnfs)duplicationPathogenicrs766750282GRCh37Chr 2, 166618450: 166618450
14GALNT3NM_ 004482.3(GALNT3): c.1525_ 1626delSNVPathogenicrs760830864GRCh38Chr 2, 165754626: 165754626
15GALNT3NM_ 004482.3(GALNT3): c.677delC (p.Ala226Valfs)deletionPathogenicrs786205250GRCh37Chr 2, 166621405: 166621405
16GALNT3NM_ 004482.3(GALNT3): c.1720T> G (p.Cys574Gly)SNVPathogenicrs267606841GRCh37Chr 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 8)
idNameGO IDScoreTop Affiliating Genes
1protein glycosylationGO:00064869.8GALNT3, POMGNT2
2phosphatidylinositol phosphorylationGO:00468549.8FGF23, KL
3phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.8FGF23, KL
4phosphatidylinositol-mediated signalingGO:00480159.7FGF23, KL
5positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:00900809.7FGF23, KL
6carbohydrate metabolic processGO:00059759.7GALNT3, KL
7fibroblast growth factor receptor signaling pathwayGO:00085439.2FGF23, GALNT3, KL
8regulation of phosphatidylinositol 3-kinase signalingGO:00140669.1FGF23, KL

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

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:00163039.8FGF23, KL
2fibroblast growth factor receptor bindingGO:00051049.8FGF23, KL
3phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.8FGF23, KL
4Ras guanyl-nucleotide exchange factor activityGO:00050889.7FGF23, KL
5transferase activity, transferring glycosyl groupsGO:00167579.3GALNT3, POMGNT2

Sources for Tumoral Calcinosis, Hyperphosphatemic, Familial

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet