MCID: TMR011
MIFTS: 41

Tumoral Calcinosis, Hyperphosphatemic, Familial malady

Genetic diseases, Rare diseases, Cancer diseases categories

Summaries for Tumoral Calcinosis, Hyperphosphatemic, Familial

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OMIM:45 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 hyperostosis and hyperphosphatemia, and has symptoms including autosomal recessive inheritance, nephrocalcinosis and taurodontia. An important gene associated with Tumoral Calcinosis, Hyperphosphatemic, Familial is FGF23 (fibroblast growth factor 23), and among its related pathways are Ca-dependent events and Signaling by FGFR. The compound calcium have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related mouse phenotypes are other and limbs/digits/tail.

Genetics Home Reference:21 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.

Aliases & Classifications for Tumoral Calcinosis, Hyperphosphatemic, Familial

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Tumoral Calcinosis, Hyperphosphatemic, Familial, Aliases & Descriptions:

Name: Tumoral Calcinosis, Hyperphosphatemic, Familial 45 41 60
Hyperphosphatemic Familial Tumoral Calcinosis 41 21 22
Tumoral Calcinosis, Hyperphosphatemic 45 10 43
Hyperostosis-Hyperphosphatemia Syndrome 41 60
Hftc 41 21
Cortical Hyperostosis with Hyperphosphatemia 41
 
Primary Hyperphosphatemic Tumoral Calcinosis 21
Hyperphosphatemia Hyperostosis Syndrome 21
Hyperphosphatemia Tumoral Calcinosis 21
Hyperostosis with Hyperphosphatemia 41
Hyperphosphatemia Hyperostosis 21
Hhs 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases


External Ids:

OMIM45 211900

Related Diseases for Tumoral Calcinosis, Hyperphosphatemic, Familial

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Diseases in the Tumoral Calcinosis, Hyperphosphatemic, Familial family:

Hyperphosphatemic Familial Tumoral Calcinosis, Galnt3-Related Hyperphosphatemic Familial Tumoral Calcinosis, Fgf23-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 59)
idRelated DiseaseScoreTop Affiliating Genes
1hyperostosis30.9FGF23, GALNT3
2hyperphosphatemia30.6FGF23, KL, GALNT3
3familial tumoral calcinosis30.5FGF23, GALNT3
4calcinosis30.1GALNT3, KL, FGF23
5hyperphosphatemic familial tumoral calcinosis, galnt3-related10.6
6hyperphosphatemic familial tumoral calcinosis, fgf23-related10.6
7hyperphosphatemic familial tumoral calcinosis, kl-related10.6
8osteomyelitis10.4
9chronic recurrent multifocal osteomyelitis10.4
10hypogonadotropic hypogonadism 2 with or without anosmia10.2
11hypotrichosis 110.2
12dyskeratosis congenita, x-linked10.1
13hemochromatosis10.1
14dyskeratosis congenita, autosomal dominant 110.1
15dyskeratosis congenita, autosomal recessive 510.1
16hypogonadotropism10.1
17kallmann syndrome10.1
18hypogonadism10.1
19isolated gonadotropin-releasing hormone deficiency10.1
20hypervitaminosis d10.0FGF23, KL
21pulmonary emphysema10.0KL, FGF23
22hypophosphatemia10.0FGF23, KL
23osteomalacia10.0FGF23, KL
24osteoporosis10.0FGF23, KL
25hypogonadotropic hypogonadism 13 with or without anosmia9.9
26hypogonadotropic hypogonadism 15 with or without anosmia9.9
27breast cancer9.9
28hypogonadotropic hypogonadism 4 with or without anosmia9.9
29hypogonadotropic hypogonadism 18 with or without anosmia9.9
30hypogonadotropic hypogonadism 11 with or without anosmia9.9
31hypogonadotropic hypogonadism 17 with or without anosmia9.9
32hypogonadotropic hypogonadism 16 with or without anosmia9.9
33hypogonadotropic hypogonadism 20 with or without anosmia9.9
34hypogonadotropic hypogonadism 12 with or without anosmia9.9
35hypogonadotropic hypogonadism 5 with or without anosmia9.9
36hypogonadotropic hypogonadism 9 with or without anosmia9.9
37hypogonadotropic hypogonadism 6 with or without anosmia9.9
38hypogonadotropic hypogonadism 14 with or without anosmia9.9
39hypogonadotropic hypogonadism 10 with or without anosmia9.9
40hypogonadotropic hypogonadism 19 with or without anosmia9.9
41pancreatic cancer9.9
42hypogonadotropic hypogonadism 8 with or without anosmia9.9
43hypogonadotropic hypogonadism 3 with or without anosmia9.9
44hiv-19.9
45hypogonadotropic hypogonadism 7 without anosmia9.9
46hypogonadotropic hypogonadism with or without anosmia9.9
47hypogonadotropic hypogonadism 21 with anosmia9.9
48hepatitis9.9
49diabetic ketoacidosis9.9
50siderosis9.9

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 13)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 nephrocalcinosis HP:0000121
3 taurodontia HP:0000679
4 abnormality of the skin HP:0000951
5 angioid streaks of the retina HP:0001102
6 hyperphosphatemia HP:0002905
7 juvenile onset HP:0003621
8 pulp stones HP:0003771
9 vascular calcification HP:0004934
10 increased renal tubular phosphate reabsorption HP:0005571
11 decreased renal tubular phosphate excretion HP:0005572
12 hypoplasia of dental enamel HP:0006297
13 conjunctival whitish salt-like deposits HP:0007799

Drugs & Therapeutics for Tumoral Calcinosis, Hyperphosphatemic, Familial

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Drug clinical trials:

Search ClinicalTrials for Tumoral Calcinosis, Hyperphosphatemic, Familial

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, Hyperphosphatemic22

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic, Familial

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

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.0KL, GALNT3
2MP:00053718.7FGF23, GALNT3, KL
3MP:00053678.7FGF23, GALNT3, KL
4MP:00053818.7KL, GALNT3, FGF23
5MP:00053908.7FGF23, GALNT3, KL
6MP:00107718.6KL, GALNT3, FGF23
7MP:00053898.6FGF23, GALNT3, KL
8MP:00053858.5FGF23, GALNT3, KL
9MP:00053768.5FGF23, GALNT3, KL
10MP:00053788.2FGF23, 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:

62
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:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1FGF23NM_020638.2(FGF23): c.211A> G (p.Ser71Gly)single nucleotide variantPathogenicrs104894342GRCh37Chr 12, 4488538: 4488538
2FGF23NM_020638.2(FGF23): c.287T> C (p.Met96Thr)single nucleotide variantPathogenicrs104894343GRCh37Chr 12, 4481788: 4481788
3FGF23NM_020638.2(FGF23): c.386C> T (p.Ser129Phe)single nucleotide variantPathogenicrs104894344GRCh37Chr 12, 4479879: 4479879
4GALNT3GALNT3, IVS7, G-A, +1single nucleotide variantPathogenic
5GALNT3NM_004482.3(GALNT3): c.484C> T (p.Arg162Ter)single nucleotide variantPathogenicrs137853086GRCh37Chr 2, 166626727: 166626727
6GALNT3GALNT3, IVS7DS, G-A, +5single nucleotide variantPathogenic
7GALNT3GALNT3, IVS1AS, A-T, -2single nucleotide variantPathogenic
8GALNT3NM_004482.3(GALNT3): c.1774C> T (p.Gln592Ter)single nucleotide variantPathogenicrs137853087GRCh37Chr 2, 166606257: 166606257
9GALNT3NM_004482.3(GALNT3): c.1076C> A (p.Thr359Lys)single nucleotide variantPathogenicrs137853091GRCh37Chr 2, 166615372: 166615372
10GALNT3NM_004482.3(GALNT3): c.966T> G (p.Tyr322Ter)single nucleotide variantPathogenicrs137853088GRCh37Chr 2, 166615953: 166615953
11GALNT3NM_004482.3(GALNT3): c.1441C> T (p.Gln481Ter)single nucleotide variantPathogenicrs137853089GRCh37Chr 2, 166611525: 166611525
12GALNT3NM_004482.3(GALNT3): c.815C> A (p.Thr272Lys)single nucleotide variantPathogenicrs137853090GRCh37Chr 2, 166618438: 166618438
13GALNT3GALNT3, 1-BP INS, 803CinsertionPathogenic
14GALNT3GALNT3, IVS8, G-A, +1single nucleotide variantPathogenic
15GALNT3GALNT3, 1-BP DEL, 677CdeletionPathogenic
16GALNT3NM_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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3KL, FGF23
2
Show member pathways
9.3FGF23, KL
3
Show member pathways
9.3FGF23, KL
4
Show member pathways
9.3FGF23, KL
5
Show member pathways
9.3FGF23, KL
6
Show member pathways
9.3FGF23, KL
7
Show member pathways
9.3FGF23, KL

Compounds for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic, Familial

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Sources:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank
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Compounds related to Tumoral Calcinosis, Hyperphosphatemic, Familial according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1calcium43 49 24 1211.5FGF23, GALNT3, KL

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 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:00900809.5FGF23, KL
2phosphatidylinositol-mediated signalingGO:00480159.5FGF23, KL
3insulin receptor signaling pathwayGO:00082869.5FGF23, KL
4fibroblast growth factor receptor signaling pathwayGO:00085439.4FGF23, KL
5Fc-epsilon receptor signaling pathwayGO:00380959.4KL, FGF23
6epidermal growth factor receptor signaling pathwayGO:00071739.3FGF23, KL
7innate immune responseGO:00450879.3FGF23, KL
8neurotrophin TRK receptor signaling pathwayGO:00480119.2FGF23, KL
9carbohydrate metabolic processGO:00059758.8GALNT3, KL

Products for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic, Familial

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Sources for Tumoral Calcinosis, Hyperphosphatemic, Familial

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet