MCID: TMR018
MIFTS: 50

Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Metabolic diseases, Endocrine diseases, Fetal 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
Hftc 57 12 24 53 25 75
Hyperostosis-Hyperphosphatemia Syndrome 57 24 53 75 73
Tumoral Calcinosis, Hyperphosphatemic, Familial 57 53 75 73
Hyperphosphatemic Familial Tumoral Calcinosis 12 24 53 25
Cortical Hyperostosis with Hyperphosphatemia 57 12 53 75
Hyperostosis with Hyperphosphatemia 57 12 53 75
Hhs 57 12 53 75
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
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
Hftc1 57

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable manifestations
onset in first decade of life
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 hftc, is related to hyperphosphatemia and hyperostosis. An important gene associated with Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 is GALNT3 (Polypeptide N-Acetylgalactosaminyltransferase 3), and among its related pathways/superpathways are mTOR signalling and Negative regulation of FGFR3 signaling. 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

UniProtKB/Swiss-Prot : 75 Tumoral calcinosis, hyperphosphatemic, familial: A severe metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients manifest recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement.

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.

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.

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 all 49)
# Related Disease Score Top Affiliating Genes
1 hyperphosphatemia 28.8 FGF23 GALNT3 KL
2 hyperostosis 28.8 FGF23 GALNT3 KL
3 familial tumoral calcinosis 28.7 FGF23 GALNT3 KL
4 calcinosis 28.6 FGF23 GALNT3 KL
5 tumoral calcinosis, hyperphosphatemic, familial, 2 12.3
6 tumoral calcinosis, hyperphosphatemic, familial, 3 12.3
7 hypotrichosis 1 11.7
8 hemochromatosis, type 1 11.5
9 dyskeratosis congenita, x-linked 11.5
10 hypogonadotropic hypogonadism 7 with or without anosmia 11.4
11 heart-hand syndrome, slovenian type 11.4
12 hypothalamic hamartomas 11.0
13 charge syndrome 11.0
14 dyskeratosis congenita, autosomal dominant 1 10.9
15 hypogonadotropic hypogonadism 2 with or without anosmia 10.9
16 dyskeratosis congenita, autosomal recessive 5 10.9
17 kallmann syndrome 10.9
18 hyperinsulinemic hypoglycemia, familial, 6 10.9
19 hypotrichosis simplex 10.9
20 hypogonadotropic hypogonadism 3 with or without anosmia 10.7
21 hypogonadotropic hypogonadism 4 with or without anosmia 10.7
22 hypogonadotropic hypogonadism 5 with or without anosmia 10.7
23 hypogonadotropic hypogonadism 6 with or without anosmia 10.7
24 hypogonadotropic hypogonadism 8 with or without anosmia 10.7
25 hypogonadotropic hypogonadism 9 with or without anosmia 10.7
26 hypogonadotropic hypogonadism 10 with or without anosmia 10.7
27 hypogonadotropic hypogonadism 11 with or without anosmia 10.7
28 hypogonadotropic hypogonadism 12 with or without anosmia 10.7
29 hypogonadotropic hypogonadism 13 with or without anosmia 10.7
30 hypogonadotropic hypogonadism 14 with or without anosmia 10.7
31 hypogonadotropic hypogonadism 15 with or without anosmia 10.7
32 hypogonadotropic hypogonadism 16 with or without anosmia 10.7
33 hypogonadotropic hypogonadism 17 with or without anosmia 10.7
34 hypogonadotropic hypogonadism 18 with or without anosmia 10.7
35 hypogonadotropic hypogonadism 19 with or without anosmia 10.7
36 hypogonadotropic hypogonadism 20 with or without anosmia 10.7
37 hypogonadotropic hypogonadism 21 with or without anosmia 10.7
38 hypogonadotropic hypogonadism 22 with or without anosmia 10.7
39 tracheal calcification 9.6 FGF23 KL
40 hypophosphatemic rickets, x-linked dominant 9.4 FGF23 KL
41 hypophosphatemic rickets, autosomal dominant 9.4 FGF23 GALNT3
42 arterial calcification of infancy 9.4 FGF23 GALNT3
43 lacrimoauriculodentodigital syndrome 9.2 FGF23 GALNT3
44 urinary system disease 9.2 FGF23 KL
45 autosomal dominant polycystic kidney disease 9.0 FGF23 KL
46 hypervitaminosis d 9.0 FGF23 GALNT3 KL
47 phosphorus metabolism disease 8.9 FGF23 GALNT3 KL
48 hypophosphatemic rickets with hypercalciuria, hereditary 8.9 FGF23 GALNT3 KL
49 mineral metabolism disease 8.9 FGF23 GALNT3 KL

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
Head And Neck Teeth:
pulp stones
taurodontism
thin dental enamel
obliterated tooth pulp cavities
disturbed root development
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

Laboratory Abnormalities:
hyperphosphatemia
normal serum calcium
normal serum parathyroid hormone (pth)
normal to elevated serum 1,25-dihydroxycholecalciferol (calcitriol)
increased serum fgf23
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 12)
# Description HPO Frequency HPO Source Accession
1 nephrocalcinosis 32 HP:0000121
2 taurodontia 32 HP:0000679
3 abnormality of the skin 32 HP:0000951
4 pulp stones 32 HP:0003771
5 hypoplasia of dental enamel 32 HP:0006297
6 hyperphosphatemia 32 HP:0002905
7 calcinosis 32 HP:0003761
8 increased renal tubular phosphate reabsorption 32 HP:0005571
9 decreased renal tubular phosphate excretion 32 HP:0005572
10 angioid streaks of the fundus 32 HP:0001102
11 vascular calcification 32 HP:0004934
12 conjunctival whitish salt-like deposits 32 HP:0007799

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.54 FGF23 GALNT3 KL
2 integument MP:0010771 9.5 FGF23 GALNT3 KL
3 limbs/digits/tail MP:0005371 9.43 FGF23 GALNT3 KL
4 renal/urinary system MP:0005367 9.33 FGF23 GALNT3 KL
5 reproductive system MP:0005389 9.13 FGF23 GALNT3 KL
6 skeleton MP:0005390 8.8 KL FGF23 GALNT3

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hypophosphatemic Rickets in Norway Active, not recruiting 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 29 FGF23 GALNT3 KL

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

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

41
Skin, Bone, Brain, Retina

Publications for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

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

# Title Authors Year
1
Phenotypic and Genotypic Characterization and Treatment of a Cohort with Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome. ( 27164190 )
2016
2
A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS). ( 24680727 )
2014
3
Hyperostosis-hyperphosphatemia syndrome (HHS): report of two cases with a recurrent mutation and review of the literature. ( 25153226 )
2014
4
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome. ( 19297793 )
2009
5
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. ( 18982401 )
2009
6
Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. ( 17311862 )
2007
7
Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23. ( 17129170 )
2007
8
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. ( 15599692 )
2005

Variations for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

UniProtKB/Swiss-Prot genetic disease variations for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1:

75
# 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
5 KL p.His193Arg VAR_064554 rs121908423

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.287T> C (p.Met96Thr) single nucleotide variant Pathogenic rs104894343 GRCh37 Chromosome 12, 4481788: 4481788
2 FGF23 NM_020638.2(FGF23): c.287T> C (p.Met96Thr) single nucleotide variant Pathogenic rs104894343 GRCh38 Chromosome 12, 4372622: 4372622
3 FGF23 NM_020638.2(FGF23): c.386C> T (p.Ser129Phe) single nucleotide variant Pathogenic rs104894344 GRCh37 Chromosome 12, 4479879: 4479879
4 FGF23 NM_020638.2(FGF23): c.386C> T (p.Ser129Phe) single nucleotide variant Pathogenic rs104894344 GRCh38 Chromosome 12, 4370713: 4370713
5 GALNT3 NM_004482.3(GALNT3): c.1524+1G> A single nucleotide variant Pathogenic rs745655924 GRCh38 Chromosome 2, 165754931: 165754931
6 GALNT3 NM_004482.3(GALNT3): c.1524+1G> A single nucleotide variant Pathogenic rs745655924 GRCh37 Chromosome 2, 166611441: 166611441
7 GALNT3 NM_004482.3(GALNT3): c.484C> T (p.Arg162Ter) single nucleotide variant Pathogenic rs137853086 GRCh37 Chromosome 2, 166626727: 166626727
8 GALNT3 NM_004482.3(GALNT3): c.484C> T (p.Arg162Ter) single nucleotide variant Pathogenic rs137853086 GRCh38 Chromosome 2, 165770217: 165770217
9 GALNT3 NM_004482.3(GALNT3): c.1524+5G> A single nucleotide variant Pathogenic rs375879489 GRCh38 Chromosome 2, 165754927: 165754927
10 GALNT3 NM_004482.3(GALNT3): c.1524+5G> A single nucleotide variant Pathogenic rs375879489 GRCh37 Chromosome 2, 166611437: 166611437
11 GALNT3 NM_004482.3(GALNT3): c.516_688del single nucleotide variant Pathogenic rs761396172 GRCh37 Chromosome 2, 166621568: 166621568
12 GALNT3 NM_004482.3(GALNT3): c.516_688del single nucleotide variant Pathogenic rs761396172 GRCh38 Chromosome 2, 165765058: 165765058
13 GALNT3 NM_004482.3(GALNT3): c.1774C> T (p.Gln592Ter) single nucleotide variant Pathogenic rs137853087 GRCh37 Chromosome 2, 166606257: 166606257
14 GALNT3 NM_004482.3(GALNT3): c.1774C> T (p.Gln592Ter) single nucleotide variant Pathogenic rs137853087 GRCh38 Chromosome 2, 165749747: 165749747
15 GALNT3 NM_004482.3(GALNT3): c.1076C> A (p.Thr359Lys) single nucleotide variant Pathogenic rs137853091 GRCh37 Chromosome 2, 166615372: 166615372
16 GALNT3 NM_004482.3(GALNT3): c.1076C> A (p.Thr359Lys) single nucleotide variant Pathogenic rs137853091 GRCh38 Chromosome 2, 165758862: 165758862
17 GALNT3 NM_004482.3(GALNT3): c.966T> G (p.Tyr322Ter) single nucleotide variant Pathogenic rs137853088 GRCh37 Chromosome 2, 166615953: 166615953
18 GALNT3 NM_004482.3(GALNT3): c.966T> G (p.Tyr322Ter) single nucleotide variant Pathogenic rs137853088 GRCh38 Chromosome 2, 165759443: 165759443
19 GALNT3 NM_004482.3(GALNT3): c.1441C> T (p.Gln481Ter) single nucleotide variant Pathogenic rs137853089 GRCh37 Chromosome 2, 166611525: 166611525
20 GALNT3 NM_004482.3(GALNT3): c.1441C> T (p.Gln481Ter) single nucleotide variant Pathogenic rs137853089 GRCh38 Chromosome 2, 165755015: 165755015
21 GALNT3 NM_004482.3(GALNT3): c.815C> A (p.Thr272Lys) single nucleotide variant Pathogenic rs137853090 GRCh37 Chromosome 2, 166618438: 166618438
22 GALNT3 NM_004482.3(GALNT3): c.815C> A (p.Thr272Lys) single nucleotide variant Pathogenic rs137853090 GRCh38 Chromosome 2, 165761928: 165761928
23 GALNT3 NM_004482.3(GALNT3): c.803dupC (p.Thr269Asnfs) duplication Pathogenic rs766750282 GRCh37 Chromosome 2, 166618450: 166618450
24 GALNT3 NM_004482.3(GALNT3): c.803dupC (p.Thr269Asnfs) duplication Pathogenic rs766750282 GRCh38 Chromosome 2, 165761940: 165761940
25 GALNT3 NM_004482.3(GALNT3): c.1525_1626del single nucleotide variant Pathogenic rs760830864 GRCh37 Chromosome 2, 166611136: 166611136
26 GALNT3 NM_004482.3(GALNT3): c.1525_1626del single nucleotide variant Pathogenic rs760830864 GRCh38 Chromosome 2, 165754626: 165754626
27 GALNT3 NM_004482.3(GALNT3): c.677delC (p.Ala226Valfs) deletion Pathogenic rs786205250 GRCh37 Chromosome 2, 166621405: 166621405
28 GALNT3 NM_004482.3(GALNT3): c.677delC (p.Ala226Valfs) deletion Pathogenic rs786205250 GRCh38 Chromosome 2, 165764895: 165764895
29 GALNT3 NM_004482.3(GALNT3): c.1720T> G (p.Cys574Gly) single nucleotide variant Pathogenic rs267606841 GRCh37 Chromosome 2, 166606311: 166606311
30 GALNT3 NM_004482.3(GALNT3): c.1720T> G (p.Cys574Gly) single nucleotide variant Pathogenic rs267606841 GRCh38 Chromosome 2, 165749801: 165749801
31 GALNT3 NM_004482.3(GALNT3): c.132A> G (p.Gln44=) single nucleotide variant Conflicting interpretations of pathogenicity rs149809222 GRCh37 Chromosome 2, 166627079: 166627079
32 GALNT3 NM_004482.3(GALNT3): c.132A> G (p.Gln44=) single nucleotide variant Conflicting interpretations of pathogenicity rs149809222 GRCh38 Chromosome 2, 165770569: 165770569
33 FGF23 NM_020638.2(FGF23): c.260G> A (p.Gly87Asp) single nucleotide variant Likely pathogenic rs863224872 GRCh38 Chromosome 12, 4372649: 4372649
34 FGF23 NM_020638.2(FGF23): c.260G> A (p.Gly87Asp) single nucleotide variant Likely pathogenic rs863224872 GRCh37 Chromosome 12, 4481815: 4481815
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

GO Terms for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.4 FGF23 KL
2 carbohydrate metabolic process GO:0005975 9.37 GALNT3 KL
3 positive regulation of protein kinase B signaling GO:0051897 9.32 FGF23 KL
4 phosphatidylinositol phosphorylation GO:0046854 9.26 FGF23 KL
5 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.16 FGF23 KL
6 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 8.96 FGF23 KL
7 fibroblast growth factor receptor signaling pathway GO:0008543 8.8 FGF23 GALNT3 KL

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

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.26 FGF23 KL
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.16 FGF23 KL
3 1-phosphatidylinositol-3-kinase activity GO:0016303 8.96 FGF23 KL
4 fibroblast growth factor receptor binding GO:0005104 8.62 FGF23 KL

Sources for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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