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

Aliases & Descriptions for Tumoral Calcinosis, Hyperphosphatemic, Familial:

Name: Tumoral Calcinosis, Hyperphosphatemic, Familial 54 50 66 69
Hyperphosphatemic Familial Tumoral Calcinosis 12 50 25 29
Hftc 12 50 25 66
Cortical Hyperostosis with Hyperphosphatemia 12 50 66
Hyperostosis-Hyperphosphatemia Syndrome 50 66 69
Tumoral Calcinosis, Hyperphosphatemic 54 13 52
Hyperostosis with Hyperphosphatemia 12 50 66
Hhs 12 50 66
Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome 12 56
Primary Hyperphosphatemic Tumoral Calcinosis 12 25
Hyperphosphatemia Hyperostosis Syndrome 12 25
Hyperphosphatemia Tumoral Calcinosis 12 25
Hypercalcemic Tumoral Calcinosis 12 56
Hyperphosphatemia Hyperostosis 12 25
Lipocalcinogranulomatosis 12 66
Morbus Teutschlaender 12 66
Phptc 12 66
Familial Tumoral Calcinosis with Hyperphosphatemia 66
Tumoral Calcinosis Primary Hyperphosphatemic 66
Tumoral Calcinosis with Hyperphosphatemia 12
Familial Teutschlaender Disease 12
Teutschlaender Disease 66
Tumoral Calcinosis 69

Characteristics:

Orphanet epidemiological data:

56

HPO:

32
tumoral calcinosis, hyperphosphatemic, familial:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 54 211900
Disease Ontology 12 DOID:0111063
ICD10 33 M11.2
Orphanet 56 ORPHA306661
ICD10 via Orphanet 34 M11.2
MedGen 40 C1876187

Summaries for Tumoral Calcinosis, Hyperphosphatemic, Familial

OMIM : 54 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/superpathways are mTOR signalling and Negative regulation of FGFR1 signaling. The drugs Sevelamer and Alfacalcidol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related phenotypes are limbs/digits/tail and renal/urinary system

Disease Ontology : 12 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 : 66 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

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)
id Related Disease Score Top Affiliating Genes
1 calcinosis 30.7 FGF23 KL
2 hyperphosphatemic familial tumoral calcinosis, fgf23-related 12.2
3 hyperphosphatemic familial tumoral calcinosis, galnt3-related 12.2
4 hyperphosphatemic familial tumoral calcinosis, kl-related 12.2
5 hypotrichosis 1 11.5
6 dyskeratosis congenita, x-linked 11.4
7 hypogonadotropic hypogonadism 7 without anosmia 11.3
8 heart-hand syndrome, slovenian type 11.3
9 hemochromatosis 11.2
10 hypothalamic hamartomas 10.9
11 hypogonadotropic hypogonadism 2 with or without anosmia 10.9
12 kallmann syndrome 10.8
13 dyskeratosis congenita, autosomal recessive 5 10.8
14 dyskeratosis congenita, autosomal dominant 1 10.8
15 hyperinsulinism-hyperammonemia syndrome 10.7
16 hypotrichosis simplex 10.7
17 hypogonadotropic hypogonadism 8 with or without anosmia 10.6
18 hypogonadotropic hypogonadism 11 with or without anosmia 10.6
19 hypogonadotropic hypogonadism 3 with or without anosmia 10.6
20 hypogonadotropic hypogonadism 17 with or without anosmia 10.6
21 hypogonadotropic hypogonadism 21 with anosmia 10.6
22 hypogonadotropic hypogonadism 16 with or without anosmia 10.6
23 hypogonadotropic hypogonadism with or without anosmia 10.6
24 hypogonadotropic hypogonadism 20 with or without anosmia 10.6
25 hypogonadotropic hypogonadism 12 with or without anosmia 10.6
26 hypogonadotropic hypogonadism 5 with or without anosmia 10.6
27 hypogonadotropic hypogonadism 13 with or without anosmia 10.6
28 hypogonadotropic hypogonadism 9 with or without anosmia 10.6
29 hypogonadotropic hypogonadism 6 with or without anosmia 10.6
30 hypogonadotropic hypogonadism 15 with or without anosmia 10.6
31 hypogonadotropic hypogonadism 14 with or without anosmia 10.6
32 hypogonadotropic hypogonadism 10 with or without anosmia 10.6
33 hypogonadotropic hypogonadism 4 with or without anosmia 10.6
34 hypogonadotropic hypogonadism 19 with or without anosmia 10.6
35 hypogonadotropic hypogonadism 18 with or without anosmia 10.6
36 familial tumoral calcinosis 10.2
37 oligospermia 10.0 FGF23 KL
38 coffin-lowry syndrome 9.9 FGF23 KL
39 peroxisome biogenesis disorder 2b 9.9 FGF23 GALNT3
40 post-traumatic stress disorder 9.8 FGF23 GALNT3
41 hyperostosis 9.8
42 hypogonadotropism 9.8
43 hyperphosphatemia 9.8
44 breast cancer 9.8
45 hypogonadism 9.8
46 saddan 9.8 FGF23 GALNT3
47 allergic urticaria 9.8 FGF23 KL
48 orbit lymphoma 9.7 FGF23 GALNT3 KL
49 gastric antral vascular ectasia 9.7 FGF23 GALNT3 KL
50 weill-marchesani syndrome 9.7 FGF23 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

Symptoms by clinical synopsis from OMIM:

211900

Clinical features from OMIM:

211900

Human phenotypes related to Tumoral Calcinosis, Hyperphosphatemic, Familial:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 nephrocalcinosis 32 HP:0000121
2 taurodontia 32 HP:0000679
3 abnormality of the skin 32 HP:0000951
4 hypoplasia of dental enamel 32 HP:0006297
5 hyperphosphatemia 32 HP:0002905
6 angioid streaks of the retina 32 HP:0001102
7 calcinosis 32 HP:0003761
8 pulp stones 32 HP:0003771
9 vascular calcification 32 HP:0004934
10 increased renal tubular phosphate reabsorption 32 HP:0005571
11 decreased renal tubular phosphate excretion 32 HP:0005572
12 conjunctival whitish salt-like deposits 32 HP:0007799

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.13 FGF23 GALNT3 KL
2 renal/urinary system MP:0005367 8.8 FGF23 GALNT3 KL

Drugs & Therapeutics for Tumoral Calcinosis, Hyperphosphatemic, Familial

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

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sevelamer Approved 52757-95-6, 152751-57-0 3085017
2
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
3 Chelating Agents
4 Trace Elements
5 Hydroxycholecalciferols
6 Vitamins
7 Micronutrients
8 Bone Density Conservation Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Hypophosphatemic Rickets in Norway Active, not recruiting NCT01057186

Search NIH Clinical Center for Tumoral Calcinosis, Hyperphosphatemic, Familial

Genetic Tests for Tumoral Calcinosis, Hyperphosphatemic, Familial

Genetic tests related to Tumoral Calcinosis, Hyperphosphatemic, Familial:

id Genetic test Affiliating Genes
1 Tumoral Calcinosis, Familial, Hyperphosphatemic 29

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic, Familial

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

39
Skin, Bone, Brain, Retina

Publications for Tumoral Calcinosis, Hyperphosphatemic, Familial

Variations for Tumoral Calcinosis, Hyperphosphatemic, Familial

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

66
id Symbol AA change Variation ID SNP ID
1 FGF23 p.Ser71Gly VAR_023831 rs104894342
2 FGF23 p.Met96Thr VAR_071711 rs104894343
3 FGF23 p.Ser129Phe VAR_071712 rs104894344
4 FGF23 p.Phe157Leu VAR_071713 rs772964687
5 KL p.His193Arg VAR_064554 rs121908423

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

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 FGF23 NM_020638.2(FGF23): c.287T> C (p.Met96Thr) single nucleotide variant Pathogenic rs104894343 GRCh37 Chromosome 12, 4481788: 4481788
2 FGF23 NM_020638.2(FGF23): c.386C> T (p.Ser129Phe) single nucleotide variant Pathogenic rs104894344 GRCh37 Chromosome 12, 4479879: 4479879
3 KL NM_004795.3(KL): c.578A> G (p.His193Arg) single nucleotide variant Pathogenic rs121908423 GRCh37 Chromosome 13, 33591156: 33591156
4 GALNT3 NM_004482.3(GALNT3): c.1524+1G> A single nucleotide variant Pathogenic rs745655924 GRCh38 Chromosome 2, 165754931: 165754931
5 GALNT3 NM_004482.3(GALNT3): c.484C> T (p.Arg162Ter) single nucleotide variant Pathogenic rs137853086 GRCh37 Chromosome 2, 166626727: 166626727
6 GALNT3 NM_004482.3(GALNT3): c.1524+5G> A single nucleotide variant Pathogenic rs375879489 GRCh38 Chromosome 2, 165754927: 165754927
7 GALNT3 NM_004482.3(GALNT3): c.516_688del single nucleotide variant Pathogenic rs761396172 GRCh38 Chromosome 2, 165765058: 165765058
8 GALNT3 NM_004482.3(GALNT3): c.1774C> T (p.Gln592Ter) single nucleotide variant Pathogenic rs137853087 GRCh37 Chromosome 2, 166606257: 166606257
9 GALNT3 NM_004482.3(GALNT3): c.1076C> A (p.Thr359Lys) single nucleotide variant Pathogenic rs137853091 GRCh37 Chromosome 2, 166615372: 166615372
10 GALNT3 NM_004482.3(GALNT3): c.966T> G (p.Tyr322Ter) single nucleotide variant Pathogenic rs137853088 GRCh37 Chromosome 2, 166615953: 166615953
11 GALNT3 NM_004482.3(GALNT3): c.1441C> T (p.Gln481Ter) single nucleotide variant Pathogenic rs137853089 GRCh37 Chromosome 2, 166611525: 166611525
12 GALNT3 NM_004482.3(GALNT3): c.815C> A (p.Thr272Lys) single nucleotide variant Pathogenic rs137853090 GRCh37 Chromosome 2, 166618438: 166618438
13 GALNT3 NM_004482.3(GALNT3): c.803dupC (p.Thr269Asnfs) duplication Pathogenic rs766750282 GRCh37 Chromosome 2, 166618450: 166618450
14 GALNT3 NM_004482.3(GALNT3): c.1525_1626del single nucleotide variant Pathogenic rs760830864 GRCh38 Chromosome 2, 165754626: 165754626
15 GALNT3 NM_004482.3(GALNT3): c.677delC (p.Ala226Valfs) deletion Pathogenic rs786205250 GRCh37 Chromosome 2, 166621405: 166621405
16 GALNT3 NM_004482.3(GALNT3): c.1720T> G (p.Cys574Gly) single nucleotide variant Pathogenic rs267606841 GRCh37 Chromosome 2, 166606311: 166606311
17 FGF23 NM_020638.2(FGF23): c.260G> A (p.Gly87Asp) single nucleotide variant Likely pathogenic rs863224872 GRCh38 Chromosome 12, 4372649: 4372649

Expression for Tumoral Calcinosis, Hyperphosphatemic, Familial

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

Pathways for Tumoral Calcinosis, Hyperphosphatemic, Familial

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.72 FGF23 KL
2
Show member pathways
11.66 FGF23 GALNT3 KL
3
Show member pathways
11.52 GALNT3 POMGNT2
4
Show member pathways
11.09 FGF23 GALNT3 KL
5
Show member pathways
10.92 FGF23 GALNT3

GO Terms for Tumoral Calcinosis, Hyperphosphatemic, Familial

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

id Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.43 GALNT3 KL
2 protein glycosylation GO:0006486 9.4 GALNT3 POMGNT2
3 phosphatidylinositol-mediated signaling GO:0048015 9.37 FGF23 KL
4 phosphatidylinositol phosphorylation GO:0046854 9.32 FGF23 KL
5 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.26 FGF23 KL
6 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.16 FGF23 KL
7 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 8.96 FGF23 KL
8 fibroblast growth factor receptor signaling pathway GO:0008543 8.8 FGF23 GALNT3 KL

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.32 GALNT3 POMGNT2
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.26 FGF23 KL
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.16 FGF23 KL
4 1-phosphatidylinositol-3-kinase activity GO:0016303 8.96 FGF23 KL
5 fibroblast growth factor receptor binding GO:0005104 8.62 FGF23 KL

Sources for Tumoral Calcinosis, Hyperphosphatemic, Familial

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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