HFTC
MCID: HYP172
MIFTS: 50

Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) malady

Skin diseases, Metabolic diseases, Endocrine diseases, Cancer diseases, Genetic diseases categories

Summaries for Hyperphosphatemic Familial Tumoral Calcinosis

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21Genetics Home Reference, 46OMIM, 32MalaCards
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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 irregular/patchy skin hypopigmentation, hepatomegaly/liver enlargement (excluding storage disease) and splenomegaly. 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, bone and brain, and related mouse phenotypes are other and limbs/digits/tail.

Description from OMIM:46 211900,610455

Aliases & Classifications for Hyperphosphatemic Familial Tumoral Calcinosis

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 22GTR, 46OMIM, 60UMLS, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

hyperphosphatemic familial tumoral calcinosis 42 21
tumoral calcinosis, hyperphosphatemic, familial 42 22 46 60
tumoral calcinosis 48 60
hftc 42 21
primary hyperphosphatemic tumoral calcinosis 21
hyperphosphatemia hyperostosis syndrome 21
hyperphosphatemia tumoral calcinosis 21
hypercalcemic tumoral calcinosis 48
hyperphosphatemia hyperostosis 21
galnt3-cdg 48


External Ids:

ICD10 via Orphanet26 M11.2
SNOMED-CT via Orphanet57 61778004
UMLS via Orphanet61 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 47)
idRelated DiseaseScoreTop Affiliating Genes
1calcinosis30.9FGF23, GALNT3, KL
2hyperphosphatemia30.7KL, FGF23, GALNT3
3hyperostosis30.5FGF23, GALNT3
4tumoral calcinosis, hyperphosphatemic30.3FGF23, KL
5hyperparathyroidism30.3KL, FGF23
6hypercalcemia30.2FGF23
7hyperphosphatemic familial tumoral calcinosis, galnt3-related10.5
8hyperphosphatemic familial tumoral calcinosis, fgf23-related10.5
9hyperphosphatemic familial tumoral calcinosis, kl-related10.5
10cervicitis10.4
11normophosphatemic familial tumoral calcinosis10.4
12peritonitis10.4
13familial tumoral calcinosis10.3
14hyperostosis-hyperphosphatemia syndrome10.1
15calciphylaxis10.1
16pseudogout10.1
17giant cell tumor10.1
18osteomyelitis10.1
19scleroderma10.1
20gout10.0
21renal osteodystrophy10.0
22ulnar neuropathy10.0
23band keratopathy10.0
24cerebritis10.0
25granular cell tumor10.0
26caffey disease10.0
27renal tubular acidosis10.0
28thoracic outlet syndrome10.0
29alopecia10.0
30arthritis10.0
31arthropathy10.0
32chronic cervicitis10.0
33keratopathy10.0
34lipomatosis10.0
35multiple sclerosis10.0
36myositis10.0
37neuropathy10.0
38osteosarcoma10.0
39rheumatoid arthritis10.0
40tuberculosis10.0
41rickets10.0FGF23
42hypervitaminosis d10.0FGF23, KL
43hypophosphatemia10.0KL, FGF23
44osteomalacia10.0KL, FGF23
45pulmonary emphysema10.0KL, FGF23
46osteoporosis10.0KL, FGF23
47x-linked hypophosphatemia10.0FGF23, 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

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

211900,610455

Clinical synopsis from OMIM:

211900

Symptoms:

48 (show all 23)
  • 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)
  • hyperhidrosis/increased sweating
  • anomalies of teeth and dentition
  • palate anomalies
  • 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
  • subcutaneous nodules/lipomas/tumefaction/swelling

Drugs & Therapeutics for Hyperphosphatemic Familial Tumoral Calcinosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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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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32MalaCards
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MalaCards organs/tissues related to Hyperphosphatemic Familial Tumoral Calcinosis:

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

Animal Models for Hyperphosphatemic Familial Tumoral Calcinosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hyperphosphatemic Familial Tumoral Calcinosis:

36
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

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Genetic Variations for Hyperphosphatemic Familial Tumoral Calcinosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hyperphosphatemic Familial Tumoral Calcinosis:

62
id Symbol AA change Variation ID SNP ID
1FGF23p.Ser71GlyVAR_023831
2KLp.His193ArgVAR_064554

Expression for genes affiliated with Hyperphosphatemic Familial Tumoral Calcinosis

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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

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53Reactome
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Pathways related to Hyperphosphatemic Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.3KL, FGF23
2
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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
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9.3KL, FGF23
7
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9.3KL, FGF23
8
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9.3KL, FGF23

Compounds for genes affiliated with Hyperphosphatemic Familial Tumoral Calcinosis

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Hyperphosphatemic Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium44 49 11 2411.5FGF23, 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 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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet