HFTC2
MCID: TMR019
MIFTS: 24

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 57 72 29 6 17
Hftc2 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
tumoral calcinosis, hyperphosphatemic, familial, 2:
Inheritance autosomal recessive inheritance


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) (Updated 20-May-2021)

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). Related phenotypes are hypercalciuria and subcutaneous calcification

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 2:

31
# Description HPO Frequency HPO Source Accession
1 hypercalciuria 31 very rare (1%) HP:0002150
2 subcutaneous calcification 31 very rare (1%) HP:0007618
3 radial bowing 31 very rare (1%) HP:0002986
4 medullary nephrocalcinosis 31 very rare (1%) HP:0012408

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
hyperphosphatemia
normal serum calcium
increased renal tubular reabsorption of phosphate
normal serum parathyroid hormone
normal-elevated serum 1,25-dihydroxyvitamin d
more
Head And Neck Eyes:
eyelid calcifications

Skeletal Limbs:
periosteal reaction
diaphysitis
sclerosis

Cardiovascular Vascular:
aortic valve calcifications
aortic arch calcifications

Head And Neck Teeth:
pulp stones
disturbed root development

Skeletal:
tumoral calcinosis
ectopic periarticular calcified masses, painful

Head And Neck Mouth:
calcific deposits in oral mucosa

Genitourinary Kidneys:
increased renal tubular reabsorption of phosphate
medullary calcinosis

Clinical features from OMIM®:

617993 (Updated 20-May-2021)

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

Genetic tests related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 2:

# Genetic test Affiliating Genes
1 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 29 FGF23

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

Publications for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

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

# Title Authors PMID Year
1
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. 6 57
16151858 2005
2
A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis. 57 6
16030159 2005
3
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. 57 6
15590700 2005
4
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. 57
20358599 2010
5
A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. 57
15687324 2005
6
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. 57
15599692 2005

Variations for Tumoral Calcinosis, Hyperphosphatemic, Familial, 2

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

6 (show top 50) (show all 59)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGF23 NM_020638.3(FGF23):c.287T>C (p.Met96Thr) SNV Pathogenic 5028 rs104894343 GRCh37: 12:4481788-4481788
GRCh38: 12:4372622-4372622
2 FGF23 NM_020638.3(FGF23):c.386C>T (p.Ser129Phe) SNV Pathogenic 5029 rs104894344 GRCh37: 12:4479879-4479879
GRCh38: 12:4370713-4370713
3 FGF23 NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) SNV Pathogenic 5027 rs104894342 GRCh37: 12:4488538-4488538
GRCh38: 12:4379372-4379372
4 FGF23 NM_020638.3(FGF23):c.414G>C (p.Leu138=) SNV Uncertain significance 880770 GRCh37: 12:4479851-4479851
GRCh38: 12:4370685-4370685
5 FGF23 NM_020638.3(FGF23):c.*1398T>A SNV Uncertain significance 880634 GRCh37: 12:4478111-4478111
GRCh38: 12:4368945-4368945
6 FGF23 NM_020638.3(FGF23):c.*460A>T SNV Uncertain significance 880706 GRCh37: 12:4479049-4479049
GRCh38: 12:4369883-4369883
7 FGF23 NM_020638.3(FGF23):c.457C>G (p.Pro153Ala) SNV Uncertain significance 880769 GRCh37: 12:4479808-4479808
GRCh38: 12:4370642-4370642
8 FGF23 NM_020638.3(FGF23):c.*28C>G SNV Uncertain significance 308801 rs886049411 GRCh37: 12:4479481-4479481
GRCh38: 12:4370315-4370315
9 FGF23 NM_020638.3(FGF23):c.*1925A>G SNV Uncertain significance 308774 rs886049397 GRCh37: 12:4477584-4477584
GRCh38: 12:4368418-4368418
10 FGF23 NM_020638.3(FGF23):c.*182G>A SNV Uncertain significance 308797 rs563817819 GRCh37: 12:4479327-4479327
GRCh38: 12:4370161-4370161
11 FGF23 NM_020638.3(FGF23):c.551A>G (p.Asp184Gly) SNV Uncertain significance 308805 rs144925325 GRCh37: 12:4479714-4479714
GRCh38: 12:4370548-4370548
12 FGF23 NM_020638.3(FGF23):c.331G>A (p.Glu111Lys) SNV Uncertain significance 308807 rs765478662 GRCh37: 12:4479934-4479934
GRCh38: 12:4370768-4370768
13 FGF23 NM_020638.3(FGF23):c.-55C>A SNV Uncertain significance 308810 rs760895385 GRCh37: 12:4488803-4488803
GRCh38: 12:4379637-4379637
14 FGF23 NM_020638.3(FGF23):c.57G>A (p.Met19Ile) SNV Uncertain significance 308808 rs766148024 GRCh37: 12:4488692-4488692
GRCh38: 12:4379526-4379526
15 FGF23 NM_020638.3(FGF23):c.*1352T>C SNV Uncertain significance 308781 rs886049398 GRCh37: 12:4478157-4478157
GRCh38: 12:4368991-4368991
16 FGF23 NM_020638.3(FGF23):c.*1049C>T SNV Uncertain significance 308783 rs13312797 GRCh37: 12:4478460-4478460
GRCh38: 12:4369294-4369294
17 FGF23 NM_020638.3(FGF23):c.*614G>A SNV Uncertain significance 308787 rs886049401 GRCh37: 12:4478895-4478895
GRCh38: 12:4369729-4369729
18 FGF23 NM_020638.3(FGF23):c.*278G>C SNV Uncertain significance 308796 rs886049408 GRCh37: 12:4479231-4479231
GRCh38: 12:4370065-4370065
19 FGF23 NM_020638.3(FGF23):c.515C>T (p.Pro172Leu) SNV Uncertain significance 308806 rs573322878 GRCh37: 12:4479750-4479750
GRCh38: 12:4370584-4370584
20 FGF23 NM_020638.3(FGF23):c.-23C>T SNV Uncertain significance 308809 rs769953313 GRCh37: 12:4488771-4488771
GRCh38: 12:4379605-4379605
21 FGF23 NM_020638.3(FGF23):c.*1772G>A SNV Uncertain significance 308777 rs13312800 GRCh37: 12:4477737-4477737
GRCh38: 12:4368571-4368571
22 FGF23 NM_020638.3(FGF23):c.*93G>A SNV Uncertain significance 308799 rs886049410 GRCh37: 12:4479416-4479416
GRCh38: 12:4370250-4370250
23 FGF23 NM_020638.3(FGF23):c.*1886C>A SNV Uncertain significance 308775 rs183802802 GRCh37: 12:4477623-4477623
GRCh38: 12:4368457-4368457
24 FGF23 NM_020638.3(FGF23):c.*856C>G SNV Uncertain significance 308785 rs886049399 GRCh37: 12:4478653-4478653
GRCh38: 12:4369487-4369487
25 FGF23 NM_020638.3(FGF23):c.*664A>T SNV Uncertain significance 308786 rs886049400 GRCh37: 12:4478845-4478845
GRCh38: 12:4369679-4369679
26 FGF23 NM_020638.3(FGF23):c.*1803C>T SNV Uncertain significance 308776 rs13312801 GRCh37: 12:4477706-4477706
GRCh38: 12:4368540-4368540
27 FGF23 NM_020638.3(FGF23):c.*1575T>C SNV Uncertain significance 308778 rs562433374 GRCh37: 12:4477934-4477934
GRCh38: 12:4368768-4368768
28 FGF23 NM_020638.3(FGF23):c.*235C>T SNV Uncertain significance 882110 GRCh37: 12:4479274-4479274
GRCh38: 12:4370108-4370108
29 FGF23 NM_020638.3(FGF23):c.249G>A (p.Val83=) SNV Uncertain significance 882162 GRCh37: 12:4481826-4481826
GRCh38: 12:4372660-4372660
30 FGF23 NM_020638.3(FGF23):c.211+12T>G SNV Uncertain significance 882163 GRCh37: 12:4488526-4488526
GRCh38: 12:4379360-4379360
31 FGF23 NM_020638.3(FGF23):c.138A>G (p.Thr46=) SNV Uncertain significance 882164 GRCh37: 12:4488611-4488611
GRCh38: 12:4379445-4379445
32 FGF23 NM_020638.3(FGF23):c.60C>T (p.Ser20=) SNV Uncertain significance 882413 GRCh37: 12:4488689-4488689
GRCh38: 12:4379523-4379523
33 FGF23 NM_020638.3(FGF23):c.*1134A>T SNV Uncertain significance 883198 GRCh37: 12:4478375-4478375
GRCh38: 12:4369209-4369209
34 FGF23 NM_020638.3(FGF23):c.*1548T>G SNV Uncertain significance 883914 GRCh37: 12:4477961-4477961
GRCh38: 12:4368795-4368795
35 FGF23 NM_020638.3(FGF23):c.*1492T>C SNV Uncertain significance 883915 GRCh37: 12:4478017-4478017
GRCh38: 12:4368851-4368851
36 FGF23 NM_020638.3(FGF23):c.*944G>A SNV Uncertain significance 883995 GRCh37: 12:4478565-4478565
GRCh38: 12:4369399-4369399
37 FGF23 NM_020638.3(FGF23):c.*784C>T SNV Uncertain significance 883996 GRCh37: 12:4478725-4478725
GRCh38: 12:4369559-4369559
38 FGF23 NM_020638.3(FGF23):c.*1292C>T SNV Uncertain significance 882047 GRCh37: 12:4478217-4478217
GRCh38: 12:4369051-4369051
39 FGF23 NM_020638.3(FGF23):c.-111C>T SNV Uncertain significance 884122 GRCh37: 12:4488859-4488859
GRCh38: 12:4379693-4379693
40 FGF23 NM_020638.3(FGF23):c.88C>T (p.Pro30Ser) SNV Uncertain significance 930793 GRCh37: 12:4488661-4488661
GRCh38: 12:4379495-4379495
41 FGF23 NM_020638.3(FGF23):c.*181T>C SNV Uncertain significance 308798 rs886049409 GRCh37: 12:4479328-4479328
GRCh38: 12:4370162-4370162
42 FGF23 NM_020638.3(FGF23):c.583C>T (p.Pro195Ser) SNV Likely benign 585858 rs13312793 GRCh37: 12:4479682-4479682
GRCh38: 12:4370516-4370516
43 FGF23 NM_020638.3(FGF23):c.-53C>G SNV Likely benign 882414 GRCh37: 12:4488801-4488801
GRCh38: 12:4379635-4379635
44 FGF23 NM_020638.3(FGF23):c.555G>C (p.Ser185=) SNV Likely benign 308804 rs115283398 GRCh37: 12:4479710-4479710
GRCh38: 12:4370544-4370544
45 FGF23 NM_020638.3(FGF23):c.*29C>G SNV Likely benign 308800 rs71534281 GRCh37: 12:4479480-4479480
GRCh38: 12:4370314-4370314
46 FGF23 NM_020638.3(FGF23):c.*388G>A SNV Likely benign 308789 rs13312795 GRCh37: 12:4479121-4479121
GRCh38: 12:4369955-4369955
47 FGF23 NM_020638.3(FGF23):c.*2062A>C SNV Likely benign 308772 rs558079364 GRCh37: 12:4477447-4477447
GRCh38: 12:4368281-4368281
48 FGF23 NM_020638.3(FGF23):c.*998C>G SNV Likely benign 308784 rs71583766 GRCh37: 12:4478511-4478511
GRCh38: 12:4369345-4369345
49 FGF23 NM_020638.3(FGF23):c.423G>T (p.Ala141=) SNV Benign 734177 rs13312792 GRCh37: 12:4479842-4479842
GRCh38: 12:4370676-4370676
50 FGF23 NM_020638.3(FGF23):c.*1316C>A SNV Benign 882046 GRCh37: 12:4478193-4478193
GRCh38: 12:4369027-4369027

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

72
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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