HFTC2
MCID: TMR019
MIFTS: 16

Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 (HFTC2)

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

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

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

Name: Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 58 76 6 17
Hftc2 58 76

Classifications:



External Ids:

OMIM 58 617993
MedGen 43 CN248506

Summaries for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

OMIM : 58 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.

UniProtKB/Swiss-Prot : 76 Tumoral calcinosis, hyperphosphatemic, familial, 2: 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, 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:

42
Skin, Bone

Publications for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

Articles related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 2:

# Title Authors Year
1
A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis. ( 16030159 )
2005
2
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. ( 16151858 )
2005
3
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. ( 15590700 )
2005

Variations for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

UniProtKB/Swiss-Prot genetic disease variations for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2:

76
# Symbol AA change Variation ID SNP ID
1 FGF23 p.Ser71Gly VAR_023831 rs104894342
2 FGF23 p.Met96Thr VAR_071711 rs104894343
3 FGF23 p.Ser129Phe VAR_071712 rs104894344
4 FGF23 p.Phe157Leu VAR_071713 rs772964687

ClinVar genetic disease variations for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGF23 NM_020638.2(FGF23): c.211A> G (p.Ser71Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs104894342 GRCh37 Chromosome 12, 4488538: 4488538
2 FGF23 NM_020638.2(FGF23): c.211A> G (p.Ser71Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs104894342 GRCh38 Chromosome 12, 4379372: 4379372
3 FGF23 NM_020638.2(FGF23): c.287T> C (p.Met96Thr) single nucleotide variant Pathogenic rs104894343 GRCh37 Chromosome 12, 4481788: 4481788
4 FGF23 NM_020638.2(FGF23): c.287T> C (p.Met96Thr) single nucleotide variant Pathogenic rs104894343 GRCh38 Chromosome 12, 4372622: 4372622
5 FGF23 NM_020638.2(FGF23): c.386C> T (p.Ser129Phe) single nucleotide variant Pathogenic rs104894344 GRCh37 Chromosome 12, 4479879: 4479879
6 FGF23 NM_020638.2(FGF23): c.386C> T (p.Ser129Phe) single nucleotide variant Pathogenic rs104894344 GRCh38 Chromosome 12, 4370713: 4370713

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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