HFTC
MCID: HYP172
MIFTS: 53

Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) malady

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

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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 based summary: Hyperphosphatemic Familial Tumoral Calcinosis, also known as tumoral calcinosis, hyperphosphatemic, familial, is related to hyperostosis and tumoral calcinosis, hyperphosphatemic, and has symptoms including subcutaneous nodules/lipomas/tumefaction/swelling, muscle ossification and bone pain. An important gene associated with Hyperphosphatemic Familial Tumoral Calcinosis is FGF23 (fibroblast growth factor 23), and among its related pathways are PI-3K cascade 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.

Descriptions from OMIM:46 211900,610455

Aliases & Classifications for Hyperphosphatemic Familial Tumoral Calcinosis

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Sources:
48Orphanet, 42NIH Rare Diseases, 21Genetics Home Reference, 62UMLS, 22GTR, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Hyperphosphatemic Familial Tumoral Calcinosis, Aliases & Descriptions:

Name: Hyperphosphatemic Familial Tumoral Calcinosis 42 21 62
Tumoral Calcinosis, Hyperphosphatemic, Familial 42 22 46 62
Hyperphosphatemia Hyperostosis Syndrome 21 62
Hyperphosphatemia Tumoral Calcinosis 21 62
Hyperphosphatemia Hyperostosis 21 62
Tumoral Calcinosis 48 62
 
Hftc 42 21
Primary Hyperphosphatemic Tumoral Calcinosis 21
Hypercalcemic Tumoral Calcinosis 48
Familial Tumoral Calcinosis 48
Galnt3-Cdg 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
hypercalcemic tumoral calcinosis:
Inheritance: Autosomal recessive
tumoral calcinosis:
Inheritance: Autosomal recessive,Sporadic; Age of onset: Childhood


External Ids:

ICD10 via Orphanet26 M11.2
UMLS via Orphanet63 C0263628

Related Diseases for Hyperphosphatemic Familial Tumoral Calcinosis

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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 49)
idRelated DiseaseScoreTop Affiliating Genes
1hyperostosis30.6FGF23, GALNT3
2tumoral calcinosis, hyperphosphatemic30.6KL, FGF23
3hyperphosphatemia30.5KL, GALNT3, FGF23
4calcinosis30.5FGF23, GALNT3, KL, SAMD9
5hyperparathyroidism30.4FGF23, KL
6familial tumoral calcinosis10.8
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
13angioid streaks10.4
14osteomyelitis10.4
15chronic recurrent multifocal osteomyelitis10.4
16hyperostosis-hyperphosphatemia syndrome10.3
17pseudogout10.2
18hypercalcemia10.2
19calciphylaxis10.2
20scleroderma10.2
21cerebritis10.2
22aneurysm10.2
23hypervitaminosis d10.1KL, FGF23
24pulmonary emphysema10.1FGF23, KL
25alopecia10.0
26arthritis10.0
27keratopathy10.0
28rheumatoid arthritis10.0
29sinusitis10.0
30gout10.0
31renal osteodystrophy10.0
32caffey disease10.0
33thoracic outlet syndrome10.0
34band keratopathy10.0
35crest syndrome10.0
36arthropathy10.0
37lipomatosis10.0
38myositis10.0
39osteosarcoma10.0
40tuberculosis10.0
41castleman's disease10.0
42desmoid tumor10.0
43osteochondroma10.0
44atlantoaxial subluxation10.0
45hypophosphatemia10.0FGF23, KL
46osteomalacia10.0KL, FGF23
47osteoporosis10.0FGF23, KL
48primary hyperoxaluria9.9FGF23, KL
49x-linked hypophosphatemia9.8FGF23, 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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Symptoms by clinical synopsis from OMIM:

211900

Clinical features from OMIM:

211900,610455

Symptoms:

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

HPO human phenotypes related to Hyperphosphatemic Familial Tumoral Calcinosis:

(show all 31)
id Description Frequency HPO Source Accession
1 chondrocalcinosis hallmark (90%) HP:0000934
2 bone pain hallmark (90%) HP:0002653
3 hyperphosphatemia hallmark (90%) HP:0002905
4 skin rash typical (50%) HP:0000988
5 osteomyelitis typical (50%) HP:0002754
6 hyperostosis typical (50%) HP:0100774
7 nephrocalcinosis occasional (7.5%) HP:0000121
8 abnormality of the teeth occasional (7.5%) HP:0000164
9 abnormality of the palate occasional (7.5%) HP:0000174
10 gingivitis occasional (7.5%) HP:0000230
11 hyperhidrosis occasional (7.5%) HP:0000975
12 hypopigmented skin patches occasional (7.5%) HP:0001053
13 abnormality of the voice occasional (7.5%) HP:0001608
14 splenomegaly occasional (7.5%) HP:0001744
15 hepatomegaly occasional (7.5%) HP:0002240
16 neoplasm of the skin occasional (7.5%) HP:0008069
17 arteriovenous malformation occasional (7.5%) HP:0100026
18 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
19 autosomal recessive inheritance HP:0000007
20 nephrocalcinosis HP:0000121
21 taurodontia HP:0000679
22 abnormality of the skin HP:0000951
23 angioid streaks of the retina HP:0001102
24 hyperphosphatemia HP:0002905
25 juvenile onset HP:0003621
26 pulp stones HP:0003771
27 vascular calcification HP:0004934
28 increased renal tubular phosphate reabsorption HP:0005571
29 decreased renal tubular phosphate excretion HP:0005572
30 hypoplasia of dental enamel HP:0006297
31 conjunctival whitish salt-like deposits HP:0007799

Drugs & Therapeutics for Hyperphosphatemic Familial Tumoral Calcinosis

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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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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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MalaCards organs/tissues related to Hyperphosphatemic Familial Tumoral Calcinosis:

32
Skin, Bone, Brain, Kidney, Liver, Tongue

Animal Models for Hyperphosphatemic Familial Tumoral Calcinosis or affiliated genes

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MGI Mouse Phenotypes related to Hyperphosphatemic Familial Tumoral Calcinosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.2GALNT3, KL
2MP:00053719.0FGF23, GALNT3, KL
3MP:00053679.0KL, GALNT3, FGF23
4MP:00053818.9FGF23, GALNT3, KL
5MP:00053908.9KL, GALNT3, FGF23
6MP:00107718.8FGF23, GALNT3, KL
7MP:00053858.8FGF23, GALNT3, KL
8MP:00053898.5KL, GALNT3, FGF23

Publications for Hyperphosphatemic Familial Tumoral Calcinosis

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Articles related to Hyperphosphatemic Familial Tumoral Calcinosis:

idTitleAuthorsYear
1
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis. (25351881)
2014
2
Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms. (24668887)
2014
3
Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature. (25249269)
2014
4
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and I+Klotho). (22142751)
2011
5
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. (21347749)
2011
6
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. (18976705)
2009
7
Angioid streaks and optic nerve head drusen in hyperphosphatemic familial tumoral calcinosis. (25390839)
2009
8
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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UniProtKB/Swiss-Prot genetic disease variations for Hyperphosphatemic Familial Tumoral Calcinosis:

64
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 Hyperphosphatemic Familial Tumoral Calcinosis:

6 (show all 17)
id Gene Name Type Significance SNP ID Assembly Location
1SAMD9NM_017654.3(SAMD9): c.4483A> G (p.Lys1495Glu)single nucleotide variantPathogenicrs121918554GRCh37Chr 7, 92730928: 92730928
2FGF23NM_020638.2(FGF23): c.211A> G (p.Ser71Gly)single nucleotide variantPathogenicrs104894342GRCh37Chr 12, 4488538: 4488538
3FGF23NM_020638.2(FGF23): c.287T> C (p.Met96Thr)single nucleotide variantPathogenicrs104894343GRCh37Chr 12, 4481788: 4481788
4FGF23NM_020638.2(FGF23): c.386C> T (p.Ser129Phe)single nucleotide variantPathogenicrs104894344GRCh37Chr 12, 4479879: 4479879
5GALNT3GALNT3, IVS7, G-A, +1single nucleotide variantPathogenic
6GALNT3NM_004482.3(GALNT3): c.484C> T (p.Arg162Ter)single nucleotide variantPathogenicrs137853086GRCh37Chr 2, 166626727: 166626727
7GALNT3GALNT3, IVS7DS, G-A, +5single nucleotide variantPathogenic
8GALNT3GALNT3, IVS1AS, A-T, -2single nucleotide variantPathogenic
9GALNT3NM_004482.3(GALNT3): c.1774C> T (p.Gln592Ter)single nucleotide variantPathogenicrs137853087GRCh37Chr 2, 166606257: 166606257
10GALNT3NM_004482.3(GALNT3): c.1076C> A (p.Thr359Lys)single nucleotide variantPathogenicrs137853091GRCh37Chr 2, 166615372: 166615372
11GALNT3NM_004482.3(GALNT3): c.966T> G (p.Tyr322Ter)single nucleotide variantPathogenicrs137853088GRCh37Chr 2, 166615953: 166615953
12GALNT3NM_004482.3(GALNT3): c.1441C> T (p.Gln481Ter)single nucleotide variantPathogenicrs137853089GRCh37Chr 2, 166611525: 166611525
13GALNT3NM_004482.3(GALNT3): c.815C> A (p.Thr272Lys)single nucleotide variantPathogenicrs137853090GRCh37Chr 2, 166618438: 166618438
14GALNT3GALNT3, 1-BP INS, 803CinsertionPathogenic
15GALNT3GALNT3, IVS8, G-A, +1single nucleotide variantPathogenic
16GALNT3GALNT3, 1-BP DEL, 677CdeletionPathogenic
17GALNT3NM_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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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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Pathways related to Hyperphosphatemic Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4FGF23, KL
2
Show member pathways
9.4FGF23, KL
3
Show member pathways
9.4KL, FGF23
4
Show member pathways
9.4FGF23, KL
5
Show member pathways
9.4FGF23, KL
6
Show member pathways
9.4FGF23, KL

Compounds for genes affiliated with Hyperphosphatemic Familial Tumoral Calcinosis

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Sources:
44Novoseek, 50PharmGKB, 24HMDB, 11DrugBank
See all sources

Compounds related to Hyperphosphatemic Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium44 50 24 1111.8FGF23, GALNT3, KL

GO Terms for genes affiliated with Hyperphosphatemic Familial Tumoral Calcinosis

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.6FGF23, KL
2phosphatidylinositol-mediated signalingGO:0480159.6FGF23, KL
3insulin receptor signaling pathwayGO:0082869.5FGF23, KL
4fibroblast growth factor receptor signaling pathwayGO:0085439.5FGF23, KL
5Fc-epsilon receptor signaling pathwayGO:0380959.4KL, FGF23
6epidermal growth factor receptor signaling pathwayGO:0071739.3FGF23, KL
7carbohydrate metabolic processGO:0059759.3GALNT3, KL
8neurotrophin TRK receptor signaling pathwayGO:0480119.1FGF23, KL

Products for genes affiliated with Hyperphosphatemic Familial Tumoral Calcinosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hyperphosphatemic Familial Tumoral Calcinosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet