HFTC1
MCID: TMR018
MIFTS: 57

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 57 75
Hyperphosphatemic Familial Tumoral Calcinosis 12 24 53 25 15
Hyperostosis-Hyperphosphatemia Syndrome 57 24 53 75 73
Hftc 57 12 24 53 25
Cortical Hyperostosis with Hyperphosphatemia 57 12 53 75
Hyperostosis with Hyperphosphatemia 57 12 53 75
Hhs 57 12 53 75
Tumoral Calcinosis, Hyperphosphatemic, Familial 57 53 73
Primary Hyperphosphatemic Tumoral Calcinosis 12 24 25
Lipocalcinogranulomatosis 57 12 75
Morbus Teutschlaender 57 12 75
Phptc 57 12 75
Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome 12 59
Tumoral Calcinosis, Familial, Hyperphosphatemic 29 6
Hyperphosphatemia Hyperostosis Syndrome 12 25
Hyperphosphatemia Tumoral Calcinosis 12 25
Hypercalcemic Tumoral Calcinosis 12 59
Hyperphosphatemia Hyperostosis 12 25
Hftc1 57 75
Familial Tumoral Calcinosis/hyperostosis-Hyperphosphatemia Syndrome 24
Tumoral Calcinosis, Hyperphosphatemic, Familial; Hftc 57
Tumoral Calcinosis, Primary Hyperphosphatemic; Phptc 57
Familial Tumoral Calcinosis with Hyperphosphatemia 75
Calcinosis, Tumoral, Hyperphosphatemic, Familial 40
Tumoral Calcinosis, Primary Hyperphosphatemic 57
Hyperostosis-Hyperphosphatemia Syndrome; Hhs 57
Tumoral Calcinosis Primary Hyperphosphatemic 75
Calcinosis, Tumoral, with Hyperphosphatemia 57
Tumoral Calcinosis with Hyperphosphatemia 12
Teutschlaender Disease, Familial 57
Familial Teutschlaender Disease 12
Teutschlaender Disease 75
Tumoral Calcinosis 73
Ftc/hhs 24

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
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:

32
tumoral calcinosis, hyperphosphatemic, familial, 1:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

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 (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 Hedgehog and Presynaptic function of Kainate receptors. 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 : 25 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 : 75 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 87)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 1 32.3 DHH IHH NAP1L2 PPP1R12B SCUBE2 SHH
2 hyperphosphatemia 30.9 FGF23 GALNT3 KL
3 hyperostosis 30.9 FGF23 GALNT3 KL
4 familial tumoral calcinosis 30.6 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 12.7
8 hemochromatosis, type 1 11.6
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 11.0
15 hypogonadotropic hypogonadism 2 with or without anosmia 11.0
16 dyskeratosis congenita, autosomal recessive 5 11.0
17 kallmann syndrome 11.0
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 10.2 FGF23 KL
41 chronic recurrent multifocal osteomyelitis 10.2
42 angioid streaks 10.2
43 osteomyelitis 10.2
44 dumping syndrome 10.2
45 hypophosphatemic rickets, x-linked dominant 10.1 FGF23 KL
46 hypervitaminosis d 10.1 FGF23 GALNT3 KL
47 phosphorus metabolism disease 10.1 FGF23 GALNT3 KL
48 hypophosphatemic rickets with hypercalciuria, hereditary 10.1 FGF23 GALNT3 KL
49 mineral metabolism disease 10.1 FGF23 GALNT3 KL
50 tumoral calcinosis, normophosphatemic, familial 10.1 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 nephrocalcinosis 32 HP:0000121
2 taurodontia 32 HP:0000679
3 hyperostosis 32 HP:0100774
4 abnormality of the skin 32 HP:0000951
5 hyperphosphatemia 32 HP:0002905
6 hypoplasia of dental enamel 32 HP:0006297
7 pulp stones 32 HP:0003771
8 calcinosis 32 HP:0003761
9 increased renal tubular phosphate reabsorption 32 HP:0005571
10 decreased renal tubular phosphate excretion 32 HP:0005572
11 angioid streaks of the fundus 32 HP:0001102
12 vascular calcification 32 HP:0004934
13 conjunctival whitish salt-like deposits 32 HP:0007799
14 subperiosteal bone formation 32 HP:0031485

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.7 DHH FGF23 GALNT3 IHH KL SHH
2 limbs/digits/tail MP:0005371 9.5 FGF23 GALNT3 IHH KL SCUBE2 SHH
3 respiratory system MP:0005388 9.1 EPHA3 FGF23 IHH KL SHH SMO

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

Search Clinical Trials , 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 29 FGF23 GALNT3

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

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

41
Skin, Bone, Brain, Retina, Heart, Prostate

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
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. ( 21347749 )
2011
13
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and ╬▒Klotho). ( 22142751 )
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 290)
# 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 GALNT3 NM_004482.3(GALNT3): c.1524+1G> A single nucleotide variant Pathogenic rs745655924 GRCh38 Chromosome 2, 165754931: 165754931
4 GALNT3 NM_004482.3(GALNT3): c.1524+1G> A single nucleotide variant Pathogenic rs745655924 GRCh37 Chromosome 2, 166611441: 166611441
5 GALNT3 NM_004482.3(GALNT3): c.484C> T (p.Arg162Ter) single nucleotide variant Pathogenic rs137853086 GRCh37 Chromosome 2, 166626727: 166626727
6 GALNT3 NM_004482.3(GALNT3): c.484C> T (p.Arg162Ter) single nucleotide variant Pathogenic rs137853086 GRCh38 Chromosome 2, 165770217: 165770217
7 GALNT3 NM_004482.3(GALNT3): c.1524+5G> A single nucleotide variant Pathogenic rs375879489 GRCh38 Chromosome 2, 165754927: 165754927
8 GALNT3 NM_004482.3(GALNT3): c.1524+5G> A single nucleotide variant Pathogenic rs375879489 GRCh37 Chromosome 2, 166611437: 166611437
9 GALNT3 NM_004482.3(GALNT3): c.516_688del single nucleotide variant Pathogenic rs761396172 GRCh38 Chromosome 2, 165765058: 165765058
10 GALNT3 NM_004482.3(GALNT3): c.516_688del single nucleotide variant Pathogenic rs761396172 GRCh37 Chromosome 2, 166621568: 166621568
11 GALNT3 NM_004482.3(GALNT3): c.1774C> T (p.Gln592Ter) single nucleotide variant Pathogenic rs137853087 GRCh37 Chromosome 2, 166606257: 166606257
12 GALNT3 NM_004482.3(GALNT3): c.1774C> T (p.Gln592Ter) single nucleotide variant Pathogenic rs137853087 GRCh38 Chromosome 2, 165749747: 165749747
13 GALNT3 NM_004482.3(GALNT3): c.1076C> A (p.Thr359Lys) single nucleotide variant Pathogenic rs137853091 GRCh37 Chromosome 2, 166615372: 166615372
14 GALNT3 NM_004482.3(GALNT3): c.1076C> A (p.Thr359Lys) single nucleotide variant Pathogenic rs137853091 GRCh38 Chromosome 2, 165758862: 165758862
15 GALNT3 NM_004482.3(GALNT3): c.966T> G (p.Tyr322Ter) single nucleotide variant Pathogenic rs137853088 GRCh37 Chromosome 2, 166615953: 166615953
16 GALNT3 NM_004482.3(GALNT3): c.966T> G (p.Tyr322Ter) single nucleotide variant Pathogenic rs137853088 GRCh38 Chromosome 2, 165759443: 165759443
17 GALNT3 NM_004482.3(GALNT3): c.1441C> T (p.Gln481Ter) single nucleotide variant Pathogenic rs137853089 GRCh37 Chromosome 2, 166611525: 166611525
18 GALNT3 NM_004482.3(GALNT3): c.1441C> T (p.Gln481Ter) single nucleotide variant Pathogenic rs137853089 GRCh38 Chromosome 2, 165755015: 165755015
19 GALNT3 NM_004482.3(GALNT3): c.815C> A (p.Thr272Lys) single nucleotide variant Pathogenic rs137853090 GRCh37 Chromosome 2, 166618438: 166618438
20 GALNT3 NM_004482.3(GALNT3): c.815C> A (p.Thr272Lys) single nucleotide variant Pathogenic rs137853090 GRCh38 Chromosome 2, 165761928: 165761928
21 GALNT3 NM_004482.3(GALNT3): c.803dupC (p.Thr269Asnfs) duplication Pathogenic rs766750282 GRCh37 Chromosome 2, 166618450: 166618450
22 GALNT3 NM_004482.3(GALNT3): c.803dupC (p.Thr269Asnfs) duplication Pathogenic rs766750282 GRCh38 Chromosome 2, 165761940: 165761940
23 GALNT3 NM_004482.3(GALNT3): c.1525_1626del single nucleotide variant Pathogenic rs760830864 GRCh38 Chromosome 2, 165754626: 165754626
24 GALNT3 NM_004482.3(GALNT3): c.1525_1626del single nucleotide variant Pathogenic rs760830864 GRCh37 Chromosome 2, 166611136: 166611136
25 GALNT3 NM_004482.3(GALNT3): c.677delC (p.Ala226Valfs) deletion Pathogenic rs786205250 GRCh37 Chromosome 2, 166621405: 166621405
26 GALNT3 NM_004482.3(GALNT3): c.677delC (p.Ala226Valfs) deletion Pathogenic rs786205250 GRCh38 Chromosome 2, 165764895: 165764895
27 GALNT3 NM_004482.3(GALNT3): c.1720T> G (p.Cys574Gly) single nucleotide variant Pathogenic rs267606841 GRCh37 Chromosome 2, 166606311: 166606311
28 GALNT3 NM_004482.3(GALNT3): c.1720T> G (p.Cys574Gly) single nucleotide variant Pathogenic rs267606841 GRCh38 Chromosome 2, 165749801: 165749801
29 GALNT3 NM_004482.3(GALNT3): c.132A> G (p.Gln44=) single nucleotide variant Conflicting interpretations of pathogenicity rs149809222 GRCh37 Chromosome 2, 166627079: 166627079
30 GALNT3 NM_004482.3(GALNT3): c.132A> G (p.Gln44=) single nucleotide variant Conflicting interpretations of pathogenicity rs149809222 GRCh38 Chromosome 2, 165770569: 165770569
31 FGF23 NM_020638.2(FGF23): c.260G> A (p.Gly87Asp) single nucleotide variant Likely pathogenic rs863224872 GRCh38 Chromosome 12, 4372649: 4372649
32 FGF23 NM_020638.2(FGF23): c.260G> A (p.Gly87Asp) single nucleotide variant Likely pathogenic rs863224872 GRCh37 Chromosome 12, 4481815: 4481815
33 GALNT3 NM_004482.3(GALNT3): c.*281T> A single nucleotide variant Benign rs13429321 GRCh38 Chromosome 2, 165748500: 165748500
34 GALNT3 NM_004482.3(GALNT3): c.*281T> A single nucleotide variant Benign rs13429321 GRCh37 Chromosome 2, 166605010: 166605010
35 GALNT3 NM_004482.3(GALNT3): c.*143G> A single nucleotide variant Uncertain significance rs771919992 GRCh38 Chromosome 2, 165748638: 165748638
36 GALNT3 NM_004482.3(GALNT3): c.*143G> A single nucleotide variant Uncertain significance rs771919992 GRCh37 Chromosome 2, 166605148: 166605148
37 GALNT3 NM_004482.3(GALNT3): c.851A> G (p.Tyr284Cys) single nucleotide variant Uncertain significance rs539221514 GRCh38 Chromosome 2, 165759558: 165759558
38 GALNT3 NM_004482.3(GALNT3): c.851A> G (p.Tyr284Cys) single nucleotide variant Uncertain significance rs539221514 GRCh37 Chromosome 2, 166616068: 166616068
39 GALNT3 NM_004482.3(GALNT3): c.-309G> A single nucleotide variant Uncertain significance rs886055017 GRCh38 Chromosome 2, 165794215: 165794215
40 GALNT3 NM_004482.3(GALNT3): c.-309G> A single nucleotide variant Uncertain significance rs886055017 GRCh37 Chromosome 2, 166650725: 166650725
41 GALNT3 NM_004482.3(GALNT3): c.-358C> T single nucleotide variant Uncertain significance rs886055018 GRCh38 Chromosome 2, 165794264: 165794264
42 GALNT3 NM_004482.3(GALNT3): c.-358C> T single nucleotide variant Uncertain significance rs886055018 GRCh37 Chromosome 2, 166650774: 166650774
43 GALNT3 NM_004482.3(GALNT3): c.-367_-363delTCGCC deletion Uncertain significance rs886055019 GRCh38 Chromosome 2, 165794269: 165794273
44 GALNT3 NM_004482.3(GALNT3): c.-367_-363delTCGCC deletion Uncertain significance rs886055019 GRCh37 Chromosome 2, 166650779: 166650783
45 GALNT3 NM_004482.3(GALNT3): c.*937C> T single nucleotide variant Uncertain significance rs886055009 GRCh38 Chromosome 2, 165747844: 165747844
46 GALNT3 NM_004482.3(GALNT3): c.*937C> T single nucleotide variant Uncertain significance rs886055009 GRCh37 Chromosome 2, 166604354: 166604354
47 GALNT3 NM_004482.3(GALNT3): c.*934dupT duplication Uncertain significance rs144647329 GRCh38 Chromosome 2, 165747847: 165747847
48 GALNT3 NM_004482.3(GALNT3): c.*934dupT duplication Uncertain significance rs144647329 GRCh37 Chromosome 2, 166604357: 166604357
49 GALNT3 NM_004482.3(GALNT3): c.*897T> C single nucleotide variant Uncertain significance rs886055010 GRCh38 Chromosome 2, 165747884: 165747884
50 GALNT3 NM_004482.3(GALNT3): c.*897T> C single nucleotide variant Uncertain significance rs886055010 GRCh37 Chromosome 2, 166604394: 166604394

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

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 region GO:0005576 9.23 DHH EPHA3 FGF23 IHH KL LIPM

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor signaling pathway GO:0008543 9.72 FGF23 GALNT3 KL
2 pattern specification process GO:0007389 9.71 IHH SHH SMO
3 heart looping GO:0001947 9.7 IHH SHH SMO
4 positive regulation of protein import into nucleus GO:0042307 9.64 SHH SMO
5 developmental growth GO:0048589 9.64 SHH SMO
6 branching involved in blood vessel morphogenesis GO:0001569 9.63 IHH SHH
7 pancreas development GO:0031016 9.63 IHH SHH
8 vasculature development GO:0001944 9.62 IHH SHH
9 hair follicle morphogenesis GO:0031069 9.62 SHH SMO
10 renal system development GO:0072001 9.61 SHH SMO
11 positive regulation of neuroblast proliferation GO:0002052 9.61 SHH SMO
12 embryonic pattern specification GO:0009880 9.6 IHH SHH
13 embryonic digestive tract morphogenesis GO:0048557 9.59 IHH SHH
14 dorsal/ventral neural tube patterning GO:0021904 9.58 SHH SMO
15 thalamus development GO:0021794 9.58 SHH SMO
16 positive regulation of alpha-beta T cell differentiation GO:0046638 9.57 IHH SHH
17 positive regulation of T cell differentiation in thymus GO:0033089 9.56 IHH SHH
18 positive regulation of smoothened signaling pathway GO:0045880 9.54 IHH SHH SMO
19 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.51 FGF23 KL
20 epithelial-mesenchymal cell signaling GO:0060684 9.49 SHH SMO
21 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.48 SHH SMO
22 determination of left/right asymmetry in lateral mesoderm GO:0003140 9.46 SHH SMO
23 negative regulation of alpha-beta T cell differentiation GO:0046639 9.43 IHH SHH
24 positive regulation of mesenchymal cell proliferation GO:0002053 9.43 IHH SHH SMO
25 positive regulation of hh target transcription factor activity GO:0007228 9.4 SHH SMO
26 cell fate specification GO:0001708 9.33 IHH SHH SMO
27 intein-mediated protein splicing GO:0016539 9.32 IHH SHH
28 somite development GO:0061053 9.13 IHH SHH SMO
29 smoothened signaling pathway GO:0007224 8.92 DHH IHH SHH SMO

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 9.35 DHH GALNT3 IHH SCUBE2 SHH
2 fibroblast growth factor receptor binding GO:0005104 9.16 FGF23 KL
3 patched binding GO:0005113 8.92 DHH IHH SHH SMO

Sources for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
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