HFTC
MCID: HYP172
MIFTS: 51

Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) malady

Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Cancer diseases categories
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Summaries for Hyperphosphatemic Familial Tumoral Calcinosis

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Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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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.

MalaCards: Hyperphosphatemic Familial Tumoral Calcinosis, also known as tumoral calcinosis, hyperphosphatemic, familial, is related to calcinosis and hyperphosphatemia, and has symptoms including renal/kidney calcifications/nephrocalcinosis, chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis and hyperostosis. An important gene associated with Hyperphosphatemic Familial Tumoral Calcinosis 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 kidney, and related mouse phenotypes are other and limbs/digits/tail.

Description from OMIM:47 211900,610455

Aliases & Classifications for Hyperphosphatemic Familial Tumoral Calcinosis

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49Orphanet, 43NIH Rare Diseases, 21Genetics Home Reference, 22GTR, 47OMIM, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
hypercalcemic tumoral calcinosis:
Inheritance: Autosomal recessive
tumoral calcinosis:
Inheritance: Autosomal recessive,Sporadic; Age of onset: Childhood


Aliases & Descriptions:

hyperphosphatemic familial tumoral calcinosis 43 21
tumoral calcinosis, hyperphosphatemic, familial 43 22 47 62
tumoral calcinosis 49 62
hftc 43 21
primary hyperphosphatemic tumoral calcinosis 21
hyperphosphatemia hyperostosis syndrome 21
hyperphosphatemia tumoral calcinosis 21
hypercalcemic tumoral calcinosis 49
hyperphosphatemia hyperostosis 21
familial tumoral calcinosis 49
galnt3-cdg 49


External Ids:

ICD10 via Orphanet26 M11.2
SNOMED-CT via Orphanet59 61778004
UMLS via Orphanet63 C0263628

Related Diseases for Hyperphosphatemic Familial Tumoral Calcinosis

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17GeneCards, 18GeneDecks
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Diseases in the Hyperphosphatemic Familial Tumoral Calcinosis family:

Hyperphosphatemic Familial Tumoral Calcinosis, Galnt3-Related Hyperphosphatemic Familial Tumoral Calcinosis, Fgf23-Related
Hyperphosphatemic Familial Tumoral Calcinosis, Kl-Related Tumoral Calcinosis, Hyperphosphatemic

Diseases related to Hyperphosphatemic Familial Tumoral Calcinosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1calcinosis30.9GALNT3, KL, FGF23
2hyperphosphatemia30.6FGF23, KL, GALNT3
3hyperostosis30.5FGF23, GALNT3
4tumoral calcinosis, hyperphosphatemic30.4KL, FGF23
5hyperparathyroidism30.4FGF23, KL
6familial tumoral calcinosis10.7
7normophosphatemic familial tumoral calcinosis10.6
8hyperphosphatemic familial tumoral calcinosis, galnt3-related10.5
9hyperphosphatemic familial tumoral calcinosis, fgf23-related10.5
10hyperphosphatemic familial tumoral calcinosis, kl-related10.5
11cervicitis10.5
12peritonitis10.4
13hyperostosis-hyperphosphatemia syndrome10.3
14pseudogout10.2
15hypercalcemia10.2
16calciphylaxis10.2
17osteomyelitis10.2
18scleroderma10.2
19chronic recurrent multifocal osteomyelitis10.2
20cerebritis10.1
21aneurysm10.1
22testicular microlithiasis10.1
23caffey disease10.0
24thoracic outlet syndrome10.0
25ulnar neuropathy10.0
26band keratopathy10.0
27gout10.0
28renal osteodystrophy10.0
29alopecia10.0
30arthritis10.0
31arthropathy10.0
32keratopathy10.0
33lipomatosis10.0
34myositis10.0
35neuropathy10.0
36osteosarcoma10.0
37rheumatoid arthritis10.0
38tuberculosis10.0
39castleman's disease10.0
40desmoid tumor10.0
41osteochondroma10.0
42sinusitis10.0
43atlantoaxial subluxation10.0
44hypervitaminosis d10.0FGF23, KL
45pulmonary emphysema10.0KL, FGF23
46hypophosphatemia10.0FGF23, KL
47osteomalacia10.0FGF23, KL
48osteoporosis10.0FGF23, KL
49primary hyperoxaluria10.0KL, FGF23
50x-linked hypophosphatemia9.9FGF23, GALNT3, KL

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



Diseases related to hyperphosphatemic familial tumoral calcinosis

Symptoms for Hyperphosphatemic Familial Tumoral Calcinosis

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

211900

Clinical features from OMIM:

211900,610455

Symptoms:

49 (show all 23)
  • renal/kidney calcifications/nephrocalcinosis
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • hyperostosis
  • bone pain
  • muscle ossification
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • palate anomalies
  • hyperphosphtemia
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • hyperhidrosis/increased sweating
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • anomalies of teeth and dentition
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • abnormal cry/voice/phonation disorder/nasal speech
  • cutaneous rash
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • anomalies of tongue, gingiva and oral mucosa
  • gingivitis
  • irregular/patchy skin hypopigmentation
  • periarticular tissue anomaly/extraarticular calcifications
  • autosomal recessive inheritance

Drugs & Therapeutics for Hyperphosphatemic Familial Tumoral Calcinosis

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hyperphosphatemic Familial Tumoral Calcinosis

Search NIH Clinical Center for Hyperphosphatemic Familial Tumoral Calcinosis

Genetic Tests for Hyperphosphatemic Familial Tumoral Calcinosis

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22GTR
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Genetic tests related to Hyperphosphatemic Familial Tumoral Calcinosis:

id Genetic test Affiliating Genes
1 Tumoral Calcinosis, Familial, Hyperphosphatemic22

Anatomical Context for Hyperphosphatemic Familial Tumoral Calcinosis

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33MalaCards
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MalaCards organs/tissues related to Hyperphosphatemic Familial Tumoral Calcinosis:

33
Skin, Bone, Kidney, Tongue, Liver

Animal Models for Hyperphosphatemic Familial Tumoral Calcinosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hyperphosphatemic Familial Tumoral Calcinosis:

37
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 Hyperphosphatemic Familial Tumoral Calcinosis

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52PubMed
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Articles related to Hyperphosphatemic Familial Tumoral Calcinosis:

idTitleAuthorsYear
1
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and I+Klotho). (22142751)
2011
2
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. (21347749)
2011
3
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. (18976705)
2009
4
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. (16528452)
2006

Variations for Hyperphosphatemic Familial Tumoral Calcinosis

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hyperphosphatemic Familial Tumoral Calcinosis:

64
id Symbol AA change Variation ID SNP ID
1FGF23p.Ser71GlyVAR_023831
2KLp.His193ArgVAR_064554

Clinvar genetic disease variations for Hyperphosphatemic Familial Tumoral Calcinosis:

1 (show all 16)
id Gene Name 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 Hyperphosphatemic Familial Tumoral Calcinosis

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperphosphatemic Familial Tumoral Calcinosis

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

Pathways for genes affiliated with Hyperphosphatemic Familial Tumoral Calcinosis

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Sources:
50PathCards, 55Reactome, 60Thomson Reuters, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Hyperphosphatemic Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

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 Hyperphosphatemic Familial Tumoral Calcinosis

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Sources:
45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Hyperphosphatemic Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium45 51 24 1111.5FGF23, GALNT3, KL

GO Terms for genes affiliated with Hyperphosphatemic Familial Tumoral Calcinosis

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16Gene Ontology
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Biological processes related to Hyperphosphatemic Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.5FGF23, KL
2phosphatidylinositol-mediated signalingGO:0480159.5FGF23, KL
3insulin receptor signaling pathwayGO:0082869.5FGF23, KL
4fibroblast growth factor receptor signaling pathwayGO:0085439.4FGF23, KL
5Fc-epsilon receptor signaling pathwayGO:0380959.4KL, FGF23
6epidermal growth factor receptor signaling pathwayGO:0071739.3FGF23, KL
7innate immune responseGO:0450879.3FGF23, KL
8neurotrophin TRK receptor signaling pathwayGO:0480119.2FGF23, KL
9carbohydrate metabolic processGO:0059758.8GALNT3, KL

Products for genes affiliated with Hyperphosphatemic Familial Tumoral Calcinosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperphosphatemic Familial Tumoral Calcinosis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet