MCID: TMR019
MIFTS: 11

Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

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

Aliases & Classifications for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

MalaCards integrated aliases for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2:

Name: Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 57
Hftc2 57

Classifications:



External Ids:

OMIM 57 617993

Summaries for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

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 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. (617993)

MalaCards based summary : Tumoral Calcinosis, Hyperphosphatemic, Familial, 2, is also known as hftc2. An important gene associated with Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 is FGF23 (Fibroblast Growth Factor 23). Affiliated tissues include skin and bone.

Related Diseases for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

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, 2

Clinical features from OMIM:

617993

Drugs & Therapeutics for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

Search Clinical Trials , NIH Clinical Center for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

Genetic Tests for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

MalaCards organs/tissues related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 2:

41
Skin, Bone

Publications for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

Variations for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

Expression for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

Search GEO for disease gene expression data for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2.

Pathways for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

GO Terms for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

Sources for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

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