HFTC
MCID: HYP172
MIFTS: 43

Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) malady

Skin, Metabolic, Endocrine, Cancer, Genetic categories

Summaries for Hyperphosphatemic Familial Tumoral Calcinosis

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 tumoral calcinosis, hyperphosphatemic and hyperphosphatemia, and has symptoms including autosomal recessive inheritance, hyperhidrosis/increased sweating and hepatomegaly/liver enlargement (excluding storage disease). An important gene associated with Hyperphosphatemic Familial Tumoral Calcinosis is FGF23 (fibroblast growth factor 23), and among its related pathways are Signaling by the B Cell Receptor (BCR) and Fc epsilon receptor (FCERI) signaling. The compound calcium have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related mouse phenotypes are other and limbs/digits/tail.

Description from OMIM:47 211900,610455

Aliases & Classifications for Hyperphosphatemic Familial Tumoral Calcinosis

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 22GTR, 47OMIM, 61UMLS, 49Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer, Genetic
Anatomical: Skin, Metabolic, Endocrine


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 61
tumoral calcinosis 49 61
hftc 43 21
primary hyperphosphatemic tumoral calcinosis 21
hyperphosphatemia hyperostosis syndrome 21
hyperphosphatemia tumoral calcinosis 21
hypercalcemic tumoral calcinosis 49
hyperphosphatemia hyperostosis 21
galnt3-cdg 49


External Ids:

ICD10 via Orphanet26 M11.2
SNOMED-CT via Orphanet58 61778004
UMLS via Orphanet62 C0263628

Related Diseases for Hyperphosphatemic Familial Tumoral Calcinosis

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

tumoral calcinosis, hyperphosphatemic

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

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1tumoral calcinosis, hyperphosphatemic30.9FGF23, KL
2hyperphosphatemia30.8KL, FGF23, GALNT3
3hypercalcemia30.2FGF23
4familial tumoral calcinosis10.7
5normophosphatemic familial tumoral calcinosis10.5
6hyperphosphatemic familial tumoral calcinosis, galnt3-related10.5
7hyperphosphatemic familial tumoral calcinosis, fgf23-related10.5
8hyperphosphatemic familial tumoral calcinosis, kl-related10.5
9calciphylaxis10.2
10pseudogout10.2
11chronic recurrent multifocal osteomyelitis10.2
12hyperostosis-hyperphosphatemia syndrome10.2
13gout10.0
14renal osteodystrophy10.0
15ulnar neuropathy10.0
16band keratopathy10.0
17granular cell tumor10.0
18caffey disease10.0
19renal tubular acidosis10.0
20extraskeletal chondroma10.0
21thoracic outlet syndrome10.0
22alopecia10.0
23arthritis10.0
24arthropathy10.0
25tuberculosis10.0
26desmoid tumor10.0
27castleman's disease10.0
28multicentric castleman’s disease10.0
29osteochondroma10.0
30testicular microlithiasis10.0
31overlap myositis10.0
32multicentric castleman disease10.0
33atlantoaxial subluxation10.0
34rickets10.0FGF23
35hypervitaminosis d10.0FGF23, KL
36hypophosphatemia10.0KL, FGF23
37osteomalacia10.0KL, FGF23
38pulmonary emphysema10.0KL, FGF23
39hyperparathyroidism10.0KL, FGF23
40hyperostosis10.0FGF23, GALNT3
41osteoporosis10.0KL, FGF23
42x-linked hypophosphatemia10.0FGF23, GALNT3, KL
43calcinosis10.0FGF23, GALNT3, KL

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



Diseases related to hyperphosphatemic familial tumoral calcinosis

Clinical Features for Hyperphosphatemic Familial Tumoral Calcinosis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

211900,610455

Clinical synopsis from OMIM:

211900

Symptoms:

49 (show all 23)
  • autosomal recessive inheritance
  • 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
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • 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

Drugs & Therapeutics for Hyperphosphatemic Familial Tumoral Calcinosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Hyperphosphatemic Familial Tumoral Calcinosis

Drug clinical trials:

Search ClinicalTrials for Hyperphosphatemic Familial Tumoral Calcinosis

Search NIH Clinical Center for Hyperphosphatemic Familial Tumoral Calcinosis

Search CenterWatch for Hyperphosphatemic Familial Tumoral Calcinosis

Genetic Tests for Hyperphosphatemic Familial Tumoral Calcinosis

Sources:
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

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

33
Skin, Brain

Animal Models for Hyperphosphatemic Familial Tumoral Calcinosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hyperphosphatemic Familial Tumoral Calcinosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.8GALNT3, KL
2MP:00053718.7KL, FGF23, GALNT3
3MP:00053678.7FGF23, GALNT3, KL
4MP:00053818.6KL, GALNT3, FGF23
5MP:00053908.6GALNT3, KL, FGF23
6MP:00107718.5GALNT3, FGF23, KL
7MP:00053858.5KL, GALNT3, FGF23
8MP:00053898.4FGF23, GALNT3, KL

Publications for Hyperphosphatemic Familial Tumoral Calcinosis

Sources:
51PubMed
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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

Genetic Variations for Hyperphosphatemic Familial Tumoral Calcinosis

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hyperphosphatemic Familial Tumoral Calcinosis:

63
id Symbol AA change Variation SNP ID
1FGF23p.Ser71GlyVAR_023831
2KLp.His193ArgVAR_064554

Expression for genes affiliated with Hyperphosphatemic Familial Tumoral Calcinosis

Sources:
1BioGPS, 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

Sources:
54Reactome
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Pathways related to Hyperphosphatemic Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3KL, FGF23
2
Hide members
9.3KL, FGF23
3
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9.3KL, FGF23
4
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9.3KL, FGF23
5
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9.3KL, FGF23
6
Hide members
9.3KL, FGF23
7
Hide members
9.3KL, FGF23
8
Hide members
9.3KL, FGF23

Compounds for genes affiliated with Hyperphosphatemic Familial Tumoral Calcinosis

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1calcium45 50 11 2411.5FGF23, GALNT3, KL

GO Terms for genes affiliated with Hyperphosphatemic Familial Tumoral Calcinosis

Sources:
16Gene Ontology
See all sources

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:0900809.5KL, FGF23
2phosphatidylinositol-mediated signalingGO:0480159.5KL, FGF23
3insulin receptor signaling pathwayGO:0082869.4FGF23, KL
4fibroblast growth factor receptor signaling pathwayGO:0085439.4FGF23, KL
5Fc-epsilon receptor signaling pathwayGO:0380959.3KL, FGF23
6epidermal growth factor receptor signaling pathwayGO:0071739.2KL, FGF23
7carbohydrate metabolic processGO:0059759.1KL, GALNT3
8neurotrophin TRK receptor signaling pathwayGO:0480119.0FGF23, KL

Products for genes affiliated with Hyperphosphatemic Familial Tumoral Calcinosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperphosphatemic Familial Tumoral Calcinosis

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet