MCID: FML091
MIFTS: 44

Familial Tumoral Calcinosis

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

Aliases & Classifications for Familial Tumoral Calcinosis

MalaCards integrated aliases for Familial Tumoral Calcinosis:

Name: Familial Tumoral Calcinosis 20 58 36 17

Characteristics:

Orphanet epidemiological data:

58
familial tumoral calcinosis
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Familial Tumoral Calcinosis

KEGG : 36 Familial tumoral calcinosis (FTC) refers to a group of disorders inherited in an autosomal recessive fashion, distinguished by the development of ectopic and vascular calcified masses that occur in settings of hyperphosphatemia (hFTC) and normophosphatemia (nFTC). hFTC is characterized by increased re-absorption of phosphate through the renal proximal tubule, resulting in elevated phosphate concentration and deposition of calcified deposits in cutaneous and subcutaneous tissues, occasionally, in visceral organs. hFTC has been shown to result from mutations in three genes: fibroblast growth factor-23 (FGF23), KL encoding Klotho, and GALNT3, which encodes a glycosyltransferase responsible for FGF23 O-glycosylation; defective function of any one of these three proteins results in hyperphosphatemia and ectopic calcification. nFTC is characterized by absence of metabolic abnormalities. nFTC has been found to be associated with absence of functional SAMD9, a putative tumor suppressor and anti-inflammatory protein.

MalaCards based summary : Familial Tumoral Calcinosis is related to tumoral calcinosis, normophosphatemic, familial and tumoral calcinosis, hyperphosphatemic, familial, 1. An important gene associated with Familial Tumoral Calcinosis is SAMD9 (Sterile Alpha Motif Domain Containing 9), and among its related pathways/superpathways are Mucin type O-glycan biosynthesis and MAPK signaling pathway. Affiliated tissues include bone and retina, and related phenotypes are bone pain and periarticular subcutaneous nodules

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 53715 Definition Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.

Related Diseases for Familial Tumoral Calcinosis

Diseases related to Familial Tumoral Calcinosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 tumoral calcinosis, normophosphatemic, familial 32.4 SAMD9L SAMD9 RGL2
2 tumoral calcinosis, hyperphosphatemic, familial, 1 31.8 SAMD9 POMGNT2 PHEX KL GALNT3 FGF23
3 hyperostosis 30.8 KL GALNT3 FGF23
4 hyperphosphatemia 30.6 PHEX KL GALNT3 FGF23
5 hypervitaminosis d 30.3 KL GALNT3 FGF23
6 hypophosphatemic rickets, x-linked recessive 30.1 PHEX FGF23
7 rickets 30.0 PHEX KL FGF23
8 hypophosphatemic rickets, autosomal dominant 29.7 PHEX KL GALNT3 FGF23
9 hyperparathyroidism 29.6 PHEX KL FGF23
10 hypophosphatemia 29.6 PHEX KL FGF23
11 calcinosis 28.8 TNF SAMD9L SAMD9 RGL2 PHEX KL
12 tumoral calcinosis, hyperphosphatemic, familial, 3 11.7
13 tumoral calcinosis, hyperphosphatemic, familial, 2 11.3
14 autosomal recessive disease 10.6
15 angioid streaks 10.2
16 dental pulp calcification 10.2 SAMD9 GALNT3
17 tracheal calcification 10.2 KL FGF23
18 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.2 KL FGF23
19 hepatocellular clear cell carcinoma 10.2 KL FGF23
20 pulmonary alveolar microlithiasis 10.2 GALNT3 FGF23
21 chronic recurrent multifocal osteomyelitis 10.2
22 testicular microlithiasis 10.2
23 metabolic acidosis 10.2
24 osteomyelitis 10.2
25 hyperlipoproteinemia, type v 10.1 KL FGF23
26 skin atrophy 10.1 KL FGF23
27 conjunctival deposit 10.1 KL GALNT3 FGF23
28 immunodeficiency 21 10.0 SAMD9L SAMD9
29 arterial calcification, generalized, of infancy, 1 10.0
30 corneal dystrophy, band-shaped 10.0
31 pseudoxanthoma elasticum 10.0
32 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
33 pica disease 10.0
34 keratopathy 10.0
35 subclavian artery aneurysm 10.0
36 dentin dysplasia 10.0
37 oncogenic osteomalacia 9.9 PHEX FGF23
38 ureteral disease 9.9 TNF KL
39 opsismodysplasia 9.9 PHEX FGF23
40 end stage renal disease 9.9 TNF KL FGF23
41 parathyroid gland disease 9.8 KL FGF23
42 hypophosphatasia 9.8 PHEX FGF23
43 schimmelpenning-feuerstein-mims syndrome 9.8 PHEX GALNT3 FGF23
44 nevus, epidermal 9.8 PHEX GALNT3 FGF23
45 autosomal dominant polycystic kidney disease 9.8 TNF KL FGF23
46 secondary hyperparathyroidism 9.7 PHEX KL FGF23
47 dental abscess 9.6 PHEX KL GALNT3 FGF23
48 hypophosphatemic rickets with hypercalciuria, hereditary 9.6 PHEX KL GALNT3 FGF23
49 metaphyseal chondrodysplasia, jansen type 9.6 PHEX KL GALNT3 FGF23
50 osteoglophonic dysplasia 9.6 PHEX KL GALNT3 FGF23

Graphical network of the top 20 diseases related to Familial Tumoral Calcinosis:



Diseases related to Familial Tumoral Calcinosis

Symptoms & Phenotypes for Familial Tumoral Calcinosis

Human phenotypes related to Familial Tumoral Calcinosis:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
2 periarticular subcutaneous nodules 58 31 hallmark (90%) Very frequent (99-80%) HP:0007470
3 calcification of muscles 58 31 hallmark (90%) Very frequent (99-80%) HP:0100249
4 erythema 58 31 frequent (33%) Frequent (79-30%) HP:0010783
5 skin rash 58 31 frequent (33%) Frequent (79-30%) HP:0000988
6 hyperostosis 58 31 frequent (33%) Frequent (79-30%) HP:0100774
7 hyperhidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000975
8 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
9 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
10 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
11 nephrocalcinosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000121
12 gingivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000230
13 neoplasm of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008069
14 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
15 hoarse voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001609
16 abnormal palate morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000174
17 subcutaneous nodule 58 Very frequent (99-80%)
18 abnormality of the gingiva 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Familial Tumoral Calcinosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.92 EGR1 FGF23 GALNT3 KL PHEX POMGNT2
2 hematopoietic system MP:0005397 9.91 EGR1 FGF23 GALNT3 KL PHEX SAMD9L
3 endocrine/exocrine gland MP:0005379 9.88 EGR1 FGF23 GALNT3 KL PHEX TNF
4 digestive/alimentary MP:0005381 9.83 FGF23 GALNT3 KL PHEX TNF
5 immune system MP:0005387 9.8 EGR1 FGF23 GALNT3 KL PHEX SAMD9L
6 integument MP:0010771 9.63 EGR1 FGF23 GALNT3 KL SAMD9L TNF
7 limbs/digits/tail MP:0005371 9.43 EGR1 FGF23 GALNT3 KL PHEX TNF
8 skeleton MP:0005390 9.1 EGR1 FGF23 GALNT3 KL PHEX TNF

Drugs & Therapeutics for Familial Tumoral Calcinosis

Search Clinical Trials , NIH Clinical Center for Familial Tumoral Calcinosis

Genetic Tests for Familial Tumoral Calcinosis

Anatomical Context for Familial Tumoral Calcinosis

MalaCards organs/tissues related to Familial Tumoral Calcinosis:

40
Bone, Retina

Publications for Familial Tumoral Calcinosis

Articles related to Familial Tumoral Calcinosis:

(show top 50) (show all 111)
# Title Authors PMID Year
1
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. 61 6
20358599 2010
2
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. 6 61
18094730 2008
3
Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family. 6 61
18618993 2008
4
Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. 61 6
17311862 2007
5
Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. 61 6
17351710 2007
6
Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. 6 61
16940445 2006
7
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. 61 6
16960814 2006
8
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. 61 6
16528452 2006
9
A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. 6 61
15687324 2005
10
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. 6 61
15590700 2005
11
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. 61 6
15599692 2005
12
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. 6 61
15133511 2004
13
Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis. 61 6
8338191 1993
14
Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis. 61 6
3839626 1985
15
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. 6
28346228 2017
16
Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing. 6
25378588 2014
17
Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity. 6
3998061 1985
18
Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina. 6
13774168 1961
19
The Successful Treatment of Deep Soft-tissue Calcifications with Topical Sodium Thiosulphate and Acetazolamide in a Boy with Hyperphosphatemic Familial Tumoral Calcinosis due to a Novel Mutation in FGF23 61
33685073 2021
20
A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India. 61
33614378 2021
21
Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23. 61
31965220 2021
22
Hyperphosphatemic familial tumoral calcinosis complicated by pica. 61
32978144 2020
23
Defective O-glycosylation of novel FGF23 mutations in a Chinese family with hyperphosphatemic familial tumoral calcinosis. 61
32360901 2020
24
Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene. 61
32125652 2020
25
Molecular basis for fibroblast growth factor 23 O-glycosylation by GalNAc-T3. 61
31932717 2020
26
Physiology of FGF23 and overview of genetic diseases associated with renal phosphate wasting. 61
30664852 2020
27
Hyperphosphataemic familial tumoral calcinosis: case report of a rare and challenging disease. 61
31213107 2020
28
Loss of the disease-associated glycosyltransferase Galnt3 alters Muc10 glycosylation and the composition of the oral microbiome. 61
31882545 2020
29
Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management. 61
32457699 2020
30
Hyperphosphatemic Familial Tumoral Calcinosis With Galnt3 Mutation: Transient Response to Anti-Interleukin-1 Treatments. 61
31372591 2019
31
Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey 61
30015621 2019
32
Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis. 61
31559735 2019
33
Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies. 61
30226830 2018
34
Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature. 61
29923062 2018
35
Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation. 61
29548779 2018
36
Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia? 61
29594503 2018
37
Hyperphosphatemic Familial Tumoral Calcinosis 61
29389098 2018
38
Giantin-knockout models reveal a feedback loop between Golgi function and glycosyltransferase expression. 61
29093022 2017
39
Efficacy of intralesional sodium thiosulfate injections for disabling tumoral calcinosis: Two cases. 61
28779847 2017
40
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts. 61
28585220 2017
41
Submucosal Colonic Masses in a Patient With Familial Tumoral Calcinosis. 61
28381848 2017
42
A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice. 61
28005411 2017
43
FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients. 61
26620085 2016
44
Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome. 61
27164190 2016
45
Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis? 61
27163355 2016
46
Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis. 61
27867679 2016
47
Development and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23. 61
27355663 2016
48
Sterile α Motif Domain Containing 9 Is a Novel Cellular Interacting Partner to Low-Risk Type Human Papillomavirus E6 Proteins. 61
26901061 2016
49
Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). 61
26337219 2015
50
From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders. 61
26244149 2015

Variations for Familial Tumoral Calcinosis

ClinVar genetic disease variations for Familial Tumoral Calcinosis:

6 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GALNT3 NM_004482.4(GALNT3):c.484C>T (p.Arg162Ter) SNV Pathogenic 7792 rs137853086 GRCh37: 2:166626727-166626727
GRCh38: 2:165770217-165770217
2 GALNT3 NM_004482.4(GALNT3):c.1524+5G>A SNV Pathogenic 7793 rs375879489 GRCh37: 2:166611437-166611437
GRCh38: 2:165754927-165754927
3 GALNT3 NM_004482.4(GALNT3):c.505C>T (p.Arg169Ter) SNV Pathogenic 561015 rs775341386 GRCh37: 2:166626706-166626706
GRCh38: 2:165770196-165770196
4 KL NM_004795.4(KL):c.578A>G (p.His193Arg) SNV Pathogenic 5346 rs121908423 GRCh37: 13:33591156-33591156
GRCh38: 13:33017018-33017018
5 GALNT3 NM_004482.4(GALNT3):c.1720T>G (p.Cys574Gly) SNV Pathogenic 7803 rs267606841 GRCh37: 2:166606311-166606311
GRCh38: 2:165749801-165749801
6 GALNT3 NM_004482.4(GALNT3):c.677del (p.Ala226fs) Deletion Pathogenic 7802 rs786205250 GRCh37: 2:166621405-166621405
GRCh38: 2:165764895-165764895
7 GALNT3 NM_004482.4(GALNT3):c.1626+1G>A SNV Pathogenic 7801 rs760830864 GRCh37: 2:166611136-166611136
GRCh38: 2:165754626-165754626
8 GALNT3 NM_004482.4(GALNT3):c.803dup (p.Thr269fs) Duplication Pathogenic 7800 rs766750282 GRCh37: 2:166618449-166618450
GRCh38: 2:165761939-165761940
9 GALNT3 NM_004482.4(GALNT3):c.815C>A (p.Thr272Lys) SNV Pathogenic 7799 rs137853090 GRCh37: 2:166618438-166618438
GRCh38: 2:165761928-165761928
10 GALNT3 NM_004482.4(GALNT3):c.1441C>T (p.Gln481Ter) SNV Pathogenic 7798 rs137853089 GRCh37: 2:166611525-166611525
GRCh38: 2:165755015-165755015
11 GALNT3 NM_004482.4(GALNT3):c.966T>G (p.Tyr322Ter) SNV Pathogenic 7797 rs137853088 GRCh37: 2:166615953-166615953
GRCh38: 2:165759443-165759443
12 GALNT3 NM_004482.4(GALNT3):c.1076C>A (p.Thr359Lys) SNV Pathogenic 7796 rs137853091 GRCh37: 2:166615372-166615372
GRCh38: 2:165758862-165758862
13 GALNT3 NM_004482.4(GALNT3):c.1774C>T (p.Gln592Ter) SNV Pathogenic 7795 rs137853087 GRCh37: 2:166606257-166606257
GRCh38: 2:165749747-165749747
14 GALNT3 NM_004482.4(GALNT3):c.516-2A>T SNV Pathogenic 7794 rs761396172 GRCh37: 2:166621568-166621568
GRCh38: 2:165765058-165765058
15 overlap with 185 genes NC_000012.12:g.(1_3750000)_(5250000_9000000)del Deletion Pathogenic 619591 GRCh37:
GRCh38: 12:1-9000000
16 SAMD9 NM_017654.4(SAMD9):c.1030C>T (p.Arg344Ter) SNV Pathogenic 929259 GRCh37: 7:92734381-92734381
GRCh38: 7:93105068-93105068
17 SAMD9 NM_017654.4(SAMD9):c.4483A>G (p.Lys1495Glu) SNV Pathogenic 1229 rs121918554 GRCh37: 7:92730928-92730928
GRCh38: 7:93101615-93101615
18 FGF23 NM_020638.3(FGF23):c.367G>T (p.Gly123Trp) SNV Pathogenic 444062 rs1220533001 GRCh37: 12:4479898-4479898
GRCh38: 12:4370732-4370732
19 FGF23 NM_020638.3(FGF23):c.385T>C (p.Ser129Pro) SNV Pathogenic 444061 rs1555096583 GRCh37: 12:4479880-4479880
GRCh38: 12:4370714-4370714
20 KL NM_004795.4(KL):c.1756C>T (p.Gln586Ter) SNV Pathogenic 1032941 GRCh37: 13:33634972-33634972
GRCh38: 13:33060835-33060835
21 GALNT3 NM_004482.4(GALNT3):c.1524+1G>A SNV Pathogenic 7791 rs745655924 GRCh37: 2:166611441-166611441
GRCh38: 2:165754931-165754931
22 FGF23 NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) SNV Pathogenic 5027 rs104894342 GRCh37: 12:4488538-4488538
GRCh38: 12:4379372-4379372
23 SAMD9 NM_017654.4(SAMD9):c.2T>C (p.Met1Thr) SNV Likely pathogenic 553658 rs201122403 GRCh37: 7:92735409-92735409
GRCh38: 7:93106096-93106096
24 SAMD9 NM_017654.4(SAMD9):c.132del (p.Val45fs) Deletion Likely pathogenic 556683 rs1554337424 GRCh37: 7:92735279-92735279
GRCh38: 7:93105966-93105966
25 SAMD9 NM_017654.4(SAMD9):c.460C>T (p.Gln154Ter) SNV Uncertain significance 225463 rs767558735 GRCh37: 7:92734951-92734951
GRCh38: 7:93105638-93105638
26 SAMD9 NM_017654.4(SAMD9):c.95del (p.His32fs) Deletion Uncertain significance 225462 rs1085307093 GRCh37: 7:92735316-92735316
GRCh38: 7:93106003-93106003
27 GALNT3 NM_004482.4(GALNT3):c.*870A>T SNV Uncertain significance 331772 rs189290881 GRCh37: 2:166604421-166604421
GRCh38: 2:165747911-165747911
28 GALNT3 NM_004482.4(GALNT3):c.-246A>C SNV Uncertain significance 331791 rs759149342 GRCh37: 2:166650662-166650662
GRCh38: 2:165794152-165794152
29 GALNT3 NM_004482.4(GALNT3):c.1451A>C (p.Asn484Thr) SNV Uncertain significance 331781 rs886055014 GRCh37: 2:166611515-166611515
GRCh38: 2:165755005-165755005
30 GALNT3 NM_004482.4(GALNT3):c.-309G>A SNV Uncertain significance 331794 rs886055017 GRCh37: 2:166650725-166650725
GRCh38: 2:165794215-165794215
31 GALNT3 NM_004482.4(GALNT3):c.549C>A (p.Pro183=) SNV Uncertain significance 331785 rs144776270 GRCh37: 2:166621533-166621533
GRCh38: 2:165765023-165765023
32 GALNT3 NM_004482.4(GALNT3):c.493G>A (p.Gly165Arg) SNV Uncertain significance 331788 rs147779149 GRCh37: 2:166626718-166626718
GRCh38: 2:165770208-165770208
33 GALNT3 NM_004482.4(GALNT3):c.-238C>T SNV Uncertain significance 331790 rs886055016 GRCh37: 2:166650654-166650654
GRCh38: 2:165794144-165794144
34 GALNT3 NM_004482.4(GALNT3):c.*897T>C SNV Uncertain significance 331771 rs886055010 GRCh37: 2:166604394-166604394
GRCh38: 2:165747884-165747884
35 GALNT3 NM_004482.4(GALNT3):c.*318T>G SNV Uncertain significance 331777 rs886055013 GRCh37: 2:166604973-166604973
GRCh38: 2:165748463-165748463
36 GALNT3 NM_004482.4(GALNT3):c.*27G>T SNV Uncertain significance 331780 rs775247455 GRCh37: 2:166605264-166605264
GRCh38: 2:165748754-165748754
37 GALNT3 NM_004482.4(GALNT3):c.507A>G (p.Arg169=) SNV Uncertain significance 331786 rs150682922 GRCh37: 2:166626704-166626704
GRCh38: 2:165770194-165770194
38 GALNT3 NM_004482.4(GALNT3):c.718G>C (p.Val240Leu) SNV Uncertain significance 331783 rs146978168 GRCh37: 2:166618535-166618535
GRCh38: 2:165762025-165762025
39 GALNT3 NM_004482.4(GALNT3):c.*937C>T SNV Uncertain significance 331769 rs886055009 GRCh37: 2:166604354-166604354
GRCh38: 2:165747844-165747844
40 GALNT3 NM_004482.3(GALNT3):c.-358C>T SNV Uncertain significance 331795 rs886055018 GRCh37: 2:166650774-166650774
GRCh38: 2:165794264-165794264
41 GALNT3 NM_004482.4(GALNT3):c.-227C>T SNV Uncertain significance 331789 rs886055015 GRCh37: 2:166650643-166650643
GRCh38: 2:165794133-165794133
42 GALNT3 NM_004482.4(GALNT3):c.-252C>T SNV Uncertain significance 331792 rs540533361 GRCh37: 2:166650668-166650668
GRCh38: 2:165794158-165794158
43 GALNT3 NM_004482.4(GALNT3):c.*143G>A SNV Uncertain significance 331779 rs771919992 GRCh37: 2:166605148-166605148
GRCh38: 2:165748638-165748638
44 GALNT3 NM_004482.4(GALNT3):c.851A>G (p.Tyr284Cys) SNV Uncertain significance 331782 rs539221514 GRCh37: 2:166616068-166616068
GRCh38: 2:165759558-165759558
45 GALNT3 NM_004482.4(GALNT3):c.*319A>C SNV Uncertain significance 331776 rs886055012 GRCh37: 2:166604972-166604972
GRCh38: 2:165748462-165748462
46 GALNT3 NM_004482.4(GALNT3):c.1691C>T (p.Ala564Val) SNV Uncertain significance 892990 GRCh37: 2:166606340-166606340
GRCh38: 2:165749830-165749830
47 GALNT3 NM_004482.4(GALNT3):c.1626+6C>T SNV Uncertain significance 892991 GRCh37: 2:166611131-166611131
GRCh38: 2:165754621-165754621
48 GALNT3 NM_004482.4(GALNT3):c.1565A>G (p.Glu522Gly) SNV Uncertain significance 892992 GRCh37: 2:166611198-166611198
GRCh38: 2:165754688-165754688
49 GALNT3 NM_004482.4(GALNT3):c.1369G>A (p.Asp457Asn) SNV Uncertain significance 892993 GRCh37: 2:166613580-166613580
GRCh38: 2:165757070-165757070
50 GALNT3 NM_004482.4(GALNT3):c.918T>C (p.Ile306=) SNV Uncertain significance 892994 GRCh37: 2:166616001-166616001
GRCh38: 2:165759491-165759491

Expression for Familial Tumoral Calcinosis

Search GEO for disease gene expression data for Familial Tumoral Calcinosis.

Pathways for Familial Tumoral Calcinosis

Pathways related to Familial Tumoral Calcinosis according to KEGG:

36
# Name Kegg Source Accession
1 Mucin type O-glycan biosynthesis hsa00512
2 MAPK signaling pathway hsa04010
3 Regulation of actin cytoskeleton hsa04810
4 Pentose and glucuronate interconversions hsa00040
5 Starch and sucrose metabolism hsa00500
6 Endocrine and other factor-regulated calcium reabsorption hsa04961

GO Terms for Familial Tumoral Calcinosis

Biological processes related to Familial Tumoral Calcinosis according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.63 TNF KL FGF23
2 positive regulation of protein kinase B signaling GO:0051897 9.54 TNF KL FGF23
3 positive regulation of interleukin-1 beta production GO:0032731 9.49 TNF EGR1
4 negative regulation of osteoblast differentiation GO:0045668 9.48 TNF FGF23
5 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.43 TNF EGR1
6 positive regulation of chemokine production GO:0032722 9.4 TNF EGR1
7 fibroblast growth factor receptor signaling pathway GO:0008543 9.33 KL GALNT3 FGF23
8 cellular response to vitamin D GO:0071305 9.32 PHEX FGF23
9 cellular response to parathyroid hormone stimulus GO:0071374 9.26 PHEX FGF23
10 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 8.96 KL FGF23
11 response to sodium phosphate GO:1904383 8.62 PHEX FGF23

Molecular functions related to Familial Tumoral Calcinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 8.62 KL FGF23

Sources for Familial Tumoral Calcinosis

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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