HFTC1
MCID: TMR018
MIFTS: 56

Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 (HFTC1)

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

Aliases & Classifications for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

MalaCards integrated aliases for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1:

Name: Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 58 76
Hyperphosphatemic Familial Tumoral Calcinosis 12 25 54 26 15
Hyperostosis-Hyperphosphatemia Syndrome 58 25 54 76 74
Hftc 58 12 25 54 26
Cortical Hyperostosis with Hyperphosphatemia 58 12 54 76
Hyperostosis with Hyperphosphatemia 58 12 54 76
Hhs 58 12 54 76
Tumoral Calcinosis, Hyperphosphatemic, Familial 58 54 74
Primary Hyperphosphatemic Tumoral Calcinosis 12 25 26
Lipocalcinogranulomatosis 58 12 76
Morbus Teutschlaender 58 12 76
Phptc 58 12 76
Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome 12 60
Tumoral Calcinosis, Familial, Hyperphosphatemic 30 6
Hyperphosphatemia Hyperostosis Syndrome 12 26
Hyperphosphatemia Tumoral Calcinosis 12 26
Hypercalcemic Tumoral Calcinosis 12 60
Hyperphosphatemia Hyperostosis 12 26
Hftc1 58 76
Familial Tumoral Calcinosis/hyperostosis-Hyperphosphatemia Syndrome 25
Tumoral Calcinosis, Hyperphosphatemic, Familial; Hftc 58
Tumoral Calcinosis, Primary Hyperphosphatemic; Phptc 58
Familial Tumoral Calcinosis with Hyperphosphatemia 76
Calcinosis, Tumoral, Hyperphosphatemic, Familial 41
Tumoral Calcinosis, Primary Hyperphosphatemic 58
Hyperostosis-Hyperphosphatemia Syndrome; Hhs 58
Tumoral Calcinosis Primary Hyperphosphatemic 76
Calcinosis, Tumoral, with Hyperphosphatemia 58
Tumoral Calcinosis with Hyperphosphatemia 12
Teutschlaender Disease, Familial 58
Familial Teutschlaender Disease 12
Teutschlaender Disease 76
Tumoral Calcinosis 74
Ftc/hhs 25

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in first decade of life
variable manifestations
high prevalence among individuals of middle eastern or african descent
heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol


HPO:

33
tumoral calcinosis, hyperphosphatemic, familial, 1:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

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 (605380) or GALNT3 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). (211900)

MalaCards based summary : Tumoral Calcinosis, Hyperphosphatemic, Familial, 1, also known as hyperphosphatemic familial tumoral calcinosis, is related to hypotrichosis 1 and hyperphosphatemia. An important gene associated with Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 is GALNT3 (Polypeptide N-Acetylgalactosaminyltransferase 3), and among its related pathways/superpathways are Signaling by GPCR and Metabolism. The drugs Sevelamer and Alfacalcidol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related phenotypes are nephrocalcinosis and taurodontia

Disease Ontology : 12 A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has material basis in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.

Genetics Home Reference : 26 Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. Calcinosis typically develops in early childhood to early adulthood, although in some people the deposits first appear in infancy or in late adulthood. Calcinosis usually occurs in and just under skin tissue around the joints, most often the hips, shoulders, and elbows. Calcinosis may also develop in the soft tissue of the feet, legs, and hands. Rarely, calcinosis occurs in blood vessels or in the brain and can cause serious health problems. The deposits develop over time and vary in size. Larger deposits form masses that are noticeable under the skin and can interfere with the function of joints and impair movement. These large deposits may appear tumor-like (tumoral), but they are not tumors or cancerous. The number and frequency of deposits varies among affected individuals; some develop few deposits during their lifetime, while others may develop many in a short period of time.

UniProtKB/Swiss-Prot : 76 Tumoral calcinosis, hyperphosphatemic, familial, 1: 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.

GeneReviews: NBK476672

Related Diseases for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

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

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

Diseases related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 1 32.7 DHH IHH PPP1R12B SHH
2 hyperphosphatemia 31.0 FGF23 GALNT3 KL
3 hyperostosis 31.0 FGF23 GALNT3 KL
4 familial tumoral calcinosis 30.5 FGF23 GALNT3 KL POMGNT2 SAMD9
5 calcinosis 30.2 FGF23 GALNT3 KL SAMD9
6 tumoral calcinosis, hyperphosphatemic, familial, 2 12.8
7 tumoral calcinosis, hyperphosphatemic, familial, 3 12.8
8 hemochromatosis, type 1 11.7
9 dyskeratosis congenita, x-linked 11.6
10 hypogonadotropic hypogonadism 7 with or without anosmia 11.6
11 heart-hand syndrome, slovenian type 11.6
12 hypothalamic hamartomas 11.2
13 charge syndrome 11.2
14 dyskeratosis congenita, autosomal dominant 1 11.1
15 hypogonadotropic hypogonadism 2 with or without anosmia 11.1
16 dyskeratosis congenita, autosomal recessive 5 11.1
17 kallmann syndrome 11.1
18 hyperinsulinemic hypoglycemia, familial, 6 11.0
19 hypotrichosis simplex 11.0
20 hypogonadotropic hypogonadism 3 with or without anosmia 10.9
21 hypogonadotropic hypogonadism 4 with or without anosmia 10.9
22 hypogonadotropic hypogonadism 5 with or without anosmia 10.9
23 hypogonadotropic hypogonadism 6 with or without anosmia 10.9
24 hypogonadotropic hypogonadism 8 with or without anosmia 10.9
25 hypogonadotropic hypogonadism 9 with or without anosmia 10.9
26 hypogonadotropic hypogonadism 10 with or without anosmia 10.9
27 hypogonadotropic hypogonadism 11 with or without anosmia 10.9
28 hypogonadotropic hypogonadism 12 with or without anosmia 10.9
29 hypogonadotropic hypogonadism 13 with or without anosmia 10.9
30 hypogonadotropic hypogonadism 14 with or without anosmia 10.9
31 hypogonadotropic hypogonadism 15 with or without anosmia 10.9
32 hypogonadotropic hypogonadism 16 with or without anosmia 10.9
33 hypogonadotropic hypogonadism 17 with or without anosmia 10.9
34 hypogonadotropic hypogonadism 18 with or without anosmia 10.9
35 hypogonadotropic hypogonadism 19 with or without anosmia 10.9
36 hypogonadotropic hypogonadism 20 with or without anosmia 10.9
37 hypogonadotropic hypogonadism 21 with or without anosmia 10.9
38 hypogonadotropic hypogonadism 22 with or without anosmia 10.9
39 pallister-hall syndrome 10.3
40 tracheal calcification 10.3 FGF23 KL
41 hypophosphatemic rickets, x-linked dominant 10.2 FGF23 KL
42 hypervitaminosis d 10.2 FGF23 GALNT3 KL
43 phosphorus metabolism disease 10.2 FGF23 GALNT3 KL
44 hypophosphatemic rickets with hypercalciuria, hereditary 10.2 FGF23 GALNT3 KL
45 mineral metabolism disease 10.2 FGF23 GALNT3 KL
46 influenza 10.2
47 chronic recurrent multifocal osteomyelitis 10.2
48 angioid streaks 10.2
49 osteomyelitis 10.2
50 tumoral calcinosis, normophosphatemic, familial 10.2 GALNT3 SAMD9

Graphical network of the top 20 diseases related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 1:



Diseases related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Symptoms & Phenotypes for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Human phenotypes related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 1:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 nephrocalcinosis 33 HP:0000121
2 taurodontia 33 HP:0000679
3 hyperostosis 33 HP:0100774
4 abnormality of the skin 33 HP:0000951
5 hyperphosphatemia 33 HP:0002905
6 hypoplasia of dental enamel 33 HP:0006297
7 pulp stones 33 HP:0003771
8 calcinosis 33 HP:0003761
9 increased renal tubular phosphate reabsorption 33 HP:0005571
10 decreased renal tubular phosphate excretion 33 HP:0005572
11 angioid streaks of the fundus 33 HP:0001102
12 vascular calcification 33 HP:0004934
13 conjunctival whitish salt-like deposits 33 HP:0007799
14 subperiosteal bone formation 33 HP:0031485

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
hyperphosphatemia
normal serum calcium
normal serum parathyroid hormone (pth)
normal to elevated serum 1,25-dihydroxycholecalciferol (calcitriol)
increased serum fgf23
more
Skeletal Limbs:
cortical hyperostosis
painful swellings of the long bones, acute, recurrent attacks
periosteal reaction
diaphysitis
radiography shows porotic changes
more
Cardiovascular Vascular:
vascular calcifications

Skeletal:
tumoral calcinosis
ectopic periarticular calcified masses, painful (hip, elbow, shoulder)
progressive deposition of basic calcium phosphate crystals

Head And Neck Teeth:
pulp stones
taurodontism
thin dental enamel
obliterated tooth pulp cavities
disturbed root development
more
Head And Neck Eyes:
angioid streaks, retina
conjunctival irritation
conjunctival whitish 'salt-like' deposits

Genitourinary Kidneys:
increased renal tubular phosphate reabsorption
decreased renal tubular phosphate excretion
calcinosis of the renal parenchyma

Skin Nails Hair Skin:
deposition of calcium phosphate crystals in skin and subcutaneous tissues

Clinical features from OMIM:

211900

MGI Mouse Phenotypes related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.7 DHH FGF23 GALNT3 GPC6 IHH KL
2 endocrine/exocrine gland MP:0005379 9.56 DHH FGF23 GALNT3 GPC2 HSD17B14 IHH
3 limbs/digits/tail MP:0005371 9.1 FGF23 GALNT3 GPC6 IHH KL SHH

Drugs & Therapeutics for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Drugs for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sevelamer Approved 52757-95-6
2
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
3 Bone Density Conservation Agents
4 Nutrients
5 Chelating Agents
6 Trace Elements
7 Vitamins
8 Micronutrients
9 Hydroxycholecalciferols

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer

Search NIH Clinical Center for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Genetic Tests for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Genetic tests related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 1:

# Genetic test Affiliating Genes
1 Tumoral Calcinosis, Familial, Hyperphosphatemic 30

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

MalaCards organs/tissues related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 1:

42
Skin, Bone, Brain, Retina

Publications for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Articles related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 1:

(show all 17)
# Title Authors Year
1
Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature. ( 29923062 )
2018
2
Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 gene: Experience from Southern Turkey. ( 30015621 )
2018
3
Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis. ( 27867679 )
2016
4
Topical Sodium thiosulfate: a treatment for calcifications in hyperphosphatemic familial tumoral calcinosis? ( 27163355 )
2016
5
FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients. ( 26620085 )
2015
6
Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). ( 26337219 )
2015
7
Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action. ( 25656441 )
2015
8
Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features. ( 25537063 )
2014
9
Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature. ( 25249269 )
2014
10
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis. ( 25351881 )
2014
11
Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms. ( 24668887 )
2014
12
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and I+Klotho). ( 22142751 )
2011
13
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. ( 21347749 )
2011
14
Angioid streaks and optic nerve head drusen in hyperphosphatemic familial tumoral calcinosis. ( 25390839 )
2009
15
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. ( 18976705 )
2009
16
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. ( 16528452 )
2006
17
Hyperphosphatemic Familial Tumoral Calcinosis ( 29389098 )
1993

Variations for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

ClinVar genetic disease variations for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1:

6 (show top 50) (show all 291)
# Gene Variation Type Significance SNP ID Assembly Location
1 GALNT3 NM_004482.3(GALNT3): c.132A> G (p.Gln44=) single nucleotide variant Conflicting interpretations of pathogenicity rs149809222 GRCh37 Chromosome 2, 166627079: 166627079
2 GALNT3 NM_004482.3(GALNT3): c.132A> G (p.Gln44=) single nucleotide variant Conflicting interpretations of pathogenicity rs149809222 GRCh38 Chromosome 2, 165770569: 165770569
3 FGF23 NM_020638.2(FGF23): c.260G> A (p.Gly87Asp) single nucleotide variant Likely pathogenic rs863224872 GRCh38 Chromosome 12, 4372649: 4372649
4 FGF23 NM_020638.2(FGF23): c.260G> A (p.Gly87Asp) single nucleotide variant Likely pathogenic rs863224872 GRCh37 Chromosome 12, 4481815: 4481815
5 FGF23 NM_020638.2(FGF23): c.211A> G (p.Ser71Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs104894342 GRCh37 Chromosome 12, 4488538: 4488538
6 FGF23 NM_020638.2(FGF23): c.211A> G (p.Ser71Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs104894342 GRCh38 Chromosome 12, 4379372: 4379372
7 KL NM_004795.4(KL): c.578A> G (p.His193Arg) single nucleotide variant Likely pathogenic rs121908423 GRCh37 Chromosome 13, 33591156: 33591156
8 KL NM_004795.4(KL): c.578A> G (p.His193Arg) single nucleotide variant Likely pathogenic rs121908423 GRCh38 Chromosome 13, 33017018: 33017018
9 GALNT3 NM_004482.3(GALNT3): c.1524+1G> A single nucleotide variant Pathogenic rs745655924 GRCh38 Chromosome 2, 165754931: 165754931
10 GALNT3 NM_004482.3(GALNT3): c.1524+1G> A single nucleotide variant Pathogenic rs745655924 GRCh37 Chromosome 2, 166611441: 166611441
11 GALNT3 NM_004482.3(GALNT3): c.484C> T (p.Arg162Ter) single nucleotide variant Pathogenic rs137853086 GRCh37 Chromosome 2, 166626727: 166626727
12 GALNT3 NM_004482.3(GALNT3): c.484C> T (p.Arg162Ter) single nucleotide variant Pathogenic rs137853086 GRCh38 Chromosome 2, 165770217: 165770217
13 GALNT3 NM_004482.3(GALNT3): c.1524+5G> A single nucleotide variant Pathogenic rs375879489 GRCh38 Chromosome 2, 165754927: 165754927
14 GALNT3 NM_004482.3(GALNT3): c.1524+5G> A single nucleotide variant Pathogenic rs375879489 GRCh37 Chromosome 2, 166611437: 166611437
15 GALNT3 NM_004482.3(GALNT3): c.516_688del single nucleotide variant Pathogenic rs761396172 GRCh38 Chromosome 2, 165765058: 165765058
16 GALNT3 NM_004482.3(GALNT3): c.516_688del single nucleotide variant Pathogenic rs761396172 GRCh37 Chromosome 2, 166621568: 166621568
17 GALNT3 NM_004482.3(GALNT3): c.1774C> T (p.Gln592Ter) single nucleotide variant Pathogenic rs137853087 GRCh37 Chromosome 2, 166606257: 166606257
18 GALNT3 NM_004482.3(GALNT3): c.1774C> T (p.Gln592Ter) single nucleotide variant Pathogenic rs137853087 GRCh38 Chromosome 2, 165749747: 165749747
19 GALNT3 NM_004482.3(GALNT3): c.1076C> A (p.Thr359Lys) single nucleotide variant Pathogenic rs137853091 GRCh37 Chromosome 2, 166615372: 166615372
20 GALNT3 NM_004482.3(GALNT3): c.1076C> A (p.Thr359Lys) single nucleotide variant Pathogenic rs137853091 GRCh38 Chromosome 2, 165758862: 165758862
21 GALNT3 NM_004482.3(GALNT3): c.966T> G (p.Tyr322Ter) single nucleotide variant Pathogenic rs137853088 GRCh37 Chromosome 2, 166615953: 166615953
22 GALNT3 NM_004482.3(GALNT3): c.966T> G (p.Tyr322Ter) single nucleotide variant Pathogenic rs137853088 GRCh38 Chromosome 2, 165759443: 165759443
23 GALNT3 NM_004482.3(GALNT3): c.1441C> T (p.Gln481Ter) single nucleotide variant Pathogenic rs137853089 GRCh37 Chromosome 2, 166611525: 166611525
24 GALNT3 NM_004482.3(GALNT3): c.1441C> T (p.Gln481Ter) single nucleotide variant Pathogenic rs137853089 GRCh38 Chromosome 2, 165755015: 165755015
25 GALNT3 NM_004482.3(GALNT3): c.815C> A (p.Thr272Lys) single nucleotide variant Pathogenic rs137853090 GRCh37 Chromosome 2, 166618438: 166618438
26 GALNT3 NM_004482.3(GALNT3): c.815C> A (p.Thr272Lys) single nucleotide variant Pathogenic rs137853090 GRCh38 Chromosome 2, 165761928: 165761928
27 GALNT3 NM_004482.3(GALNT3): c.803dupC (p.Thr269Asnfs) duplication Pathogenic rs766750282 GRCh37 Chromosome 2, 166618450: 166618450
28 GALNT3 NM_004482.3(GALNT3): c.803dupC (p.Thr269Asnfs) duplication Pathogenic rs766750282 GRCh38 Chromosome 2, 165761940: 165761940
29 GALNT3 NM_004482.3(GALNT3): c.1525_1626del single nucleotide variant Pathogenic rs760830864 GRCh38 Chromosome 2, 165754626: 165754626
30 GALNT3 NM_004482.3(GALNT3): c.1525_1626del single nucleotide variant Pathogenic rs760830864 GRCh37 Chromosome 2, 166611136: 166611136
31 GALNT3 NM_004482.3(GALNT3): c.677delC (p.Ala226Valfs) deletion Pathogenic rs786205250 GRCh37 Chromosome 2, 166621405: 166621405
32 GALNT3 NM_004482.3(GALNT3): c.677delC (p.Ala226Valfs) deletion Pathogenic rs786205250 GRCh38 Chromosome 2, 165764895: 165764895
33 GALNT3 NM_004482.3(GALNT3): c.1720T> G (p.Cys574Gly) single nucleotide variant Pathogenic rs267606841 GRCh37 Chromosome 2, 166606311: 166606311
34 GALNT3 NM_004482.3(GALNT3): c.1720T> G (p.Cys574Gly) single nucleotide variant Pathogenic rs267606841 GRCh38 Chromosome 2, 165749801: 165749801
35 GALNT3 NM_004482.3(GALNT3): c.*281T> A single nucleotide variant Benign rs13429321 GRCh38 Chromosome 2, 165748500: 165748500
36 GALNT3 NM_004482.3(GALNT3): c.*281T> A single nucleotide variant Benign rs13429321 GRCh37 Chromosome 2, 166605010: 166605010
37 GALNT3 NM_004482.3(GALNT3): c.*143G> A single nucleotide variant Uncertain significance rs771919992 GRCh38 Chromosome 2, 165748638: 165748638
38 GALNT3 NM_004482.3(GALNT3): c.*143G> A single nucleotide variant Uncertain significance rs771919992 GRCh37 Chromosome 2, 166605148: 166605148
39 GALNT3 NM_004482.3(GALNT3): c.851A> G (p.Tyr284Cys) single nucleotide variant Uncertain significance rs539221514 GRCh38 Chromosome 2, 165759558: 165759558
40 GALNT3 NM_004482.3(GALNT3): c.851A> G (p.Tyr284Cys) single nucleotide variant Uncertain significance rs539221514 GRCh37 Chromosome 2, 166616068: 166616068
41 GALNT3 NM_004482.3(GALNT3): c.-309G> A single nucleotide variant Uncertain significance rs886055017 GRCh38 Chromosome 2, 165794215: 165794215
42 GALNT3 NM_004482.3(GALNT3): c.-309G> A single nucleotide variant Uncertain significance rs886055017 GRCh37 Chromosome 2, 166650725: 166650725
43 GALNT3 NM_004482.3(GALNT3): c.-358C> T single nucleotide variant Uncertain significance rs886055018 GRCh38 Chromosome 2, 165794264: 165794264
44 GALNT3 NM_004482.3(GALNT3): c.-358C> T single nucleotide variant Uncertain significance rs886055018 GRCh37 Chromosome 2, 166650774: 166650774
45 GALNT3 NM_004482.3(GALNT3): c.-367_-363delTCGCC deletion Uncertain significance rs886055019 GRCh38 Chromosome 2, 165794269: 165794273
46 GALNT3 NM_004482.3(GALNT3): c.-367_-363delTCGCC deletion Uncertain significance rs886055019 GRCh37 Chromosome 2, 166650779: 166650783
47 GALNT3 NM_004482.3(GALNT3): c.*937C> T single nucleotide variant Uncertain significance rs886055009 GRCh38 Chromosome 2, 165747844: 165747844
48 GALNT3 NM_004482.3(GALNT3): c.*937C> T single nucleotide variant Uncertain significance rs886055009 GRCh37 Chromosome 2, 166604354: 166604354
49 GALNT3 NM_004482.3(GALNT3): c.*934dupT duplication Uncertain significance rs144647329 GRCh38 Chromosome 2, 165747847: 165747847
50 GALNT3 NM_004482.3(GALNT3): c.*934dupT duplication Uncertain significance rs144647329 GRCh37 Chromosome 2, 166604357: 166604357

Expression for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Search GEO for disease gene expression data for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1.

Pathways for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Pathways related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 DHH FGF23 GALNT3 GPC2 GPC4 GPC5
2
Show member pathways
13.85 CHSY3 GALNT3 GPC2 GPC4 GPC5 GPC6
3
Show member pathways
13.34 DHH FGF23 GPC2 GPC4 GPC5 GPC6
4
Show member pathways
12.55 CHSY3 GPC2 GPC4 GPC5 GPC6
5
Show member pathways
12.42 GPC2 GPC4 GPC5 GPC6
6
Show member pathways
12.27 DHH GPC5 IHH SHH
7
Show member pathways
12.05 GPC2 GPC5 GPC6 SHH
8
Show member pathways
12 GPC2 GPC4 GPC5 GPC6
9
Show member pathways
11.86 CHSY3 GPC2 GPC4 GPC5 GPC6
10
Show member pathways
11.76 DHH IHH SHH
11
Show member pathways
11.73 GPC2 GPC5 GPC6
12
Show member pathways
11.62 GPC2 GPC4 GPC5 GPC6
13
Show member pathways
10.32 DHH IHH SHH

GO Terms for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Cellular components related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.96 DHH FGF23 GPC2 GPC4 GPC5 GPC6
2 extracellular region GO:0005576 9.9 DHH FGF23 GPC2 GPC4 GPC5 GPC6
3 collagen-containing extracellular matrix GO:0062023 9.77 GPC2 GPC4 GPC5 GPC6 SHH
4 anchored component of membrane GO:0031225 9.71 GPC2 GPC4 GPC5 GPC6
5 lysosomal lumen GO:0043202 9.62 GPC2 GPC4 GPC5 GPC6
6 anchored component of plasma membrane GO:0046658 9.26 GPC2 GPC4 GPC5 GPC6
7 Golgi lumen GO:0005796 9.02 FGF23 GPC2 GPC4 GPC5 GPC6

Biological processes related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor signaling pathway GO:0008543 9.65 FGF23 GALNT3 KL
2 smoothened signaling pathway GO:0007224 9.62 DHH GPC2 IHH SHH
3 branching involved in blood vessel morphogenesis GO:0001569 9.59 IHH SHH
4 pancreas development GO:0031016 9.58 IHH SHH
5 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 IHH SHH
6 vasculature development GO:0001944 9.57 IHH SHH
7 embryonic pattern specification GO:0009880 9.56 IHH SHH
8 retinoid metabolic process GO:0001523 9.56 GPC2 GPC4 GPC5 GPC6
9 cell fate specification GO:0001708 9.55 IHH SHH
10 embryonic digestive tract morphogenesis GO:0048557 9.54 IHH SHH
11 somite development GO:0061053 9.52 IHH SHH
12 positive regulation of alpha-beta T cell differentiation GO:0046638 9.51 IHH SHH
13 positive regulation of T cell differentiation in thymus GO:0033089 9.49 IHH SHH
14 regulation of neurotransmitter receptor localization to postsynaptic specialization membrane GO:0098696 9.46 GPC4 GPC6
15 regulation of signal transduction GO:0009966 9.46 GPC2 GPC4 GPC5 GPC6
16 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.43 FGF23 KL
17 negative regulation of alpha-beta T cell differentiation GO:0046639 9.4 IHH SHH
18 intein-mediated protein splicing GO:0016539 9.37 IHH SHH
19 glycosaminoglycan biosynthetic process GO:0006024 9.26 GPC2 GPC4 GPC5 GPC6
20 glycosaminoglycan catabolic process GO:0006027 8.92 GPC2 GPC4 GPC5 GPC6

Molecular functions related to Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.55 DHH GALNT3 IHH MMP12 SHH
2 fibroblast growth factor receptor binding GO:0005104 9.26 FGF23 KL
3 coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway GO:1904929 8.96 GPC4 GPC6
4 patched binding GO:0005113 8.8 DHH IHH SHH

Sources for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
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47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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