HFTC3
MCID: TMR020
MIFTS: 14

Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 (HFTC3)

Categories: Blood diseases, Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3

MalaCards integrated aliases for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3:

Name: Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 57 75
Hftc3 57 75
Hyperphosphatemic Familial Tumoral Calcinosis 3 6

Classifications:



External Ids:

OMIM 57 617994
MedGen 42 CN248507

Summaries for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3

OMIM : 57 Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 (605380) or GALNT3 (601756) gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis. HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; 193100), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (Chefetz et al., 2005; Ichikawa et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see 211900. (617994)

MalaCards based summary : Tumoral Calcinosis, Hyperphosphatemic, Familial, 3, is also known as hftc3. An important gene associated with Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 is KL (Klotho). Affiliated tissues include skin and bone.

UniProtKB/Swiss-Prot : 75 Tumoral calcinosis, hyperphosphatemic, familial, 3: A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement.

Related Diseases for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3

Diseases in the Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 family:

Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3

Symptoms & Phenotypes for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3

Clinical features from OMIM:

617994

Drugs & Therapeutics for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3

Search Clinical Trials , NIH Clinical Center for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3

Genetic Tests for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3

MalaCards organs/tissues related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 3:

41
Skin, Bone

Publications for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3

Variations for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3

UniProtKB/Swiss-Prot genetic disease variations for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3:

75
# Symbol AA change Variation ID SNP ID
1 KL p.His193Arg VAR_064554 rs121908423

ClinVar genetic disease variations for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KL NM_004795.3(KL): c.578A> G (p.His193Arg) single nucleotide variant Pathogenic rs121908423 GRCh37 Chromosome 13, 33591156: 33591156
2 KL NM_004795.3(KL): c.578A> G (p.His193Arg) single nucleotide variant Pathogenic rs121908423 GRCh38 Chromosome 13, 33017018: 33017018

Expression for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3

Search GEO for disease gene expression data for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3.

Pathways for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3

GO Terms for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3

Sources for Tumoral Calcinosis, Hyperphosphatemic, Familial, 3

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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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