HFTC1
MCID: TMR018
MIFTS: 59

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 74
Hyperphosphatemic Familial Tumoral Calcinosis 12 24 53 25 15
Hyperostosis-Hyperphosphatemia Syndrome 57 24 53 74 72
Hftc 57 12 24 53 25
Cortical Hyperostosis with Hyperphosphatemia 57 12 53 74
Hyperostosis with Hyperphosphatemia 57 12 53 74
Hhs 57 12 53 74
Tumoral Calcinosis, Hyperphosphatemic, Familial 57 53 72
Primary Hyperphosphatemic Tumoral Calcinosis 12 24 25
Lipocalcinogranulomatosis 57 12 74
Morbus Teutschlaender 57 12 74
Phptc 57 12 74
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 74
Familial Tumoral Calcinosis/hyperostosis-Hyperphosphatemia Syndrome 24
Tumoral Calcinosis, Hyperphosphatemic, Familial; Hftc 57
Tumoral Calcinosis, Primary Hyperphosphatemic; Phptc 57
Familial Tumoral Calcinosis with Hyperphosphatemia 74
Calcinosis, Tumoral, Hyperphosphatemic, Familial 40
Tumoral Calcinosis, Primary Hyperphosphatemic 57
Hyperostosis-Hyperphosphatemia Syndrome; Hhs 57
Tumoral Calcinosis Primary Hyperphosphatemic 74
Calcinosis, Tumoral, with Hyperphosphatemia 57
Tumoral Calcinosis with Hyperphosphatemia 12
Teutschlaender Disease, Familial 57
Familial Teutschlaender Disease 12
Teutschlaender Disease 74
Tumoral Calcinosis 72
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:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111063
OMIM 57 211900
ICD10 33 M11.2
ICD10 via Orphanet 34 M11.2
Orphanet 59 ORPHA306661
UMLS 72 C0263628 C1853256 C1876187

Summaries for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

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. Other features of HFTC include eye abnormalities such as calcium buildup in the clear front covering of the eye (corneal calcification) or angioid streaks that occur when tiny breaks form in the layer of tissue at the back of the eye called Bruch's membrane. Inflammation of the long bones (diaphysis) or excessive bone growth (hyperostosis) may occur. Some affected individuals have dental abnormalities. In males, small crystals of cholesterol can accumulate (microlithiasis) in the testicles, which usually causes no health problems. A similar condition called hyperphosphatemia-hyperostosis syndrome (HHS) results in increased levels of phosphate in the blood, excessive bone growth, and bone lesions. This condition used to be considered a separate disorder, but it is now thought to be a mild variant of HFTC.

MalaCards based summary : Tumoral Calcinosis, Hyperphosphatemic, Familial, 1, also known as hyperphosphatemic familial tumoral calcinosis, is related to hypotrichosis 1 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 Signaling by GPCR and HIV Life Cycle. The drugs Salmon Calcitonin and Calcium have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and eye, 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.

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)

UniProtKB/Swiss-Prot : 74 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 182)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 1 32.9 SHH PPP1R12B IHH DHH
2 hyperostosis 31.1 KL GALNT3 FGF23
3 hyperphosphatemia 30.7 KL GALNT3 FGF23
4 calcinosis 30.7 SAMD9 KL GALNT3 FGF23
5 tumoral calcinosis, normophosphatemic, familial 30.5 SAMD9 GALNT3
6 familial tumoral calcinosis 30.4 SAMD9 POMGNT2 KL GALNT3 FGF23
7 tumoral calcinosis, hyperphosphatemic, familial, 2 13.0
8 tumoral calcinosis, hyperphosphatemic, familial, 3 12.9
9 hemochromatosis, type 1 11.8
10 hypogonadotropic hypogonadism 7 with or without anosmia 11.8
11 dyskeratosis congenita, x-linked 11.8
12 heart-hand syndrome, slovenian type 11.7
13 hypogonadotropic hypogonadism 11.7
14 hypogonadotropic hypogonadism 15 with or without anosmia 11.4
15 hypothalamic hamartomas 11.3
16 charge syndrome 11.3
17 dyskeratosis congenita, autosomal dominant 1 11.2
18 hypogonadotropic hypogonadism 2 with or without anosmia 11.2
19 dyskeratosis congenita, autosomal recessive 5 11.2
20 kallmann syndrome 11.2
21 hyperinsulinemic hypoglycemia, familial, 6 11.2
22 hypotrichosis simplex 11.2
23 hypogonadotropic hypogonadism 3 with or without anosmia 11.0
24 hypogonadotropic hypogonadism 4 with or without anosmia 11.0
25 hypogonadotropic hypogonadism 5 with or without anosmia 11.0
26 hypogonadotropic hypogonadism 6 with or without anosmia 11.0
27 hypogonadotropic hypogonadism 8 with or without anosmia 11.0
28 hypogonadotropic hypogonadism 9 with or without anosmia 11.0
29 hypogonadotropic hypogonadism 10 with or without anosmia 11.0
30 hypogonadotropic hypogonadism 11 with or without anosmia 11.0
31 hypogonadotropic hypogonadism 12 with or without anosmia 11.0
32 hypogonadotropic hypogonadism 13 with or without anosmia 11.0
33 hypogonadotropic hypogonadism 14 with or without anosmia 11.0
34 hypogonadotropic hypogonadism 16 with or without anosmia 11.0
35 hypogonadotropic hypogonadism 17 with or without anosmia 11.0
36 hypogonadotropic hypogonadism 18 with or without anosmia 11.0
37 hypogonadotropic hypogonadism 19 with or without anosmia 11.0
38 hypogonadotropic hypogonadism 20 with or without anosmia 11.0
39 hypogonadotropic hypogonadism 21 with or without anosmia 11.0
40 hypogonadotropic hypogonadism 22 with or without anosmia 11.0
41 hoyeraal hreidarsson syndrome 11.0
42 human immunodeficiency virus type 1 10.5
43 tracheal calcification 10.5 KL FGF23
44 hypophosphatemic rickets, x-linked dominant 10.4 KL FGF23
45 hypervitaminosis d 10.4 KL GALNT3 FGF23
46 phosphorus metabolism disease 10.4 KL GALNT3 FGF23
47 hypophosphatemic rickets with hypercalciuria, hereditary 10.3 KL GALNT3 FGF23
48 autosomal recessive hypophosphatemic rickets 10.3 GALNT3 FGF23
49 angioid streaks 10.3
50 mineral metabolism disease 10.3 KL GALNT3 FGF23

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:

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 angioid streaks of the fundus 32 HP:0001102
10 vascular calcification 32 HP:0004934
11 increased renal tubular phosphate reabsorption 32 HP:0005571
12 decreased renal tubular phosphate excretion 32 HP:0005572
13 conjunctival whitish salt-like deposits 32 HP:0007799
14 subperiosteal bone formation 32 HP:0031485

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

Head And Neck Eyes:
angioid streaks, retina
conjunctival irritation
conjunctival whitish 'salt-like' deposits

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
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

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:

46
# 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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Salmon Calcitonin Approved, Investigational Phase 2 47931-85-1 16129616
2
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
3
Calcitonin gene-related peptide Investigational Phase 2 83652-28-2
4 Hormones Phase 2
5 Katacalcin Phase 2
6 Vasodilator Agents Phase 2
7 calcitonin Phase 2
8 Calcium, Dietary Phase 2
9 Bone Density Conservation Agents Phase 2
10 Pharmaceutical Solutions Phase 2
11 Antidotes Phase 2
12 sodium thiosulfate Phase 2
13 Antioxidants Phase 2
14 Protective Agents Phase 2
15 Anti-Infective Agents Phase 2
16 Anti-Bacterial Agents Phase 2
17 Chelating Agents Phase 2
18 Antitubercular Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Study of Calcitonin for Tumoral Calcinosis Completed NCT00004358 Phase 2 calcitonin
2 Novel Drug Delivery of Sodium Thiosulfate for Calcinosis Associated With Adult and Juvenile Dermatomyositis Completed NCT01572844 Phase 2 Sodium thiosulfate
3 The Effect of Sodium Thiosulfate Treatment on Vascular Calcification in End Stage Renal Failure Patients Completed NCT00568399 sodium thiosulfate

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 GALNT3

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

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

41
Bone, Skin, Eye, Brain, Retina, Kidney

Publications for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

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

(show top 50) (show all 113)
# Title Authors PMID Year
1
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. 9 38 4 8 71
20358599 2010
2
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. 9 38 4 8 71
15599692 2005
3
Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. 9 4 8 71
16940445 2006
4
A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. 9 4 8 71
15687324 2005
5
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. 9 38 8 71
16528452 2006
6
Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis. 4 8 71
8338191 1993
7
Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis. 4 8 71
3839626 1985
8
Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity. 4 8 71
3998061 1985
9
Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina. 4 8 71
13774168 1961
10
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. 9 8 71
15133511 2004
11
Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family. 9 4 71
18618993 2008
12
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 9 4 8
17710231 2007
13
Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. 9 4 71
17311862 2007
14
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. 38 4 8
16151858 2005
15
Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. 9 38 71
17351710 2007
16
Tumoral calcinosis, diaphysitis, and hyperphosphatemia. 4 8
6718723 1984
17
Hyperphosphatemic Familial Tumoral Calcinosis 38 71
29389098 2018
18
Familial tumoral calcinosis caused by a novel FGF23 mutation: response to induction of tubular renal acidosis with acetazolamide and the non-calcium phosphate binder sevelamer. 9 38 4
19188744 2009
19
Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis? 38 4
27163355 2016
20
Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). 38 4
26337219 2015
21
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis. 38 4
25351881 2015
22
Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features. 38 4
25537063 2014
23
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. 38 4
25249269 2014
24
Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms. 38 4
24668887 2014
25
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. 38 4
21347749 2011
26
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. 9 4
19830424 2010
27
Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis. 9 4
19837926 2009
28
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. 9 4
18982401 2009
29
A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis. 9 4
19411468 2009
30
Two novel GALNT3 mutations in familial tumoral calcinosis. 9 4
17853462 2007
31
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. 9 4
16567474 2006
32
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. 9 4
15590700 2005
33
Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation. 8
10379593 1999
34
Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis. 8
9113957 1997
35
Tumoral calcinosis: successful medical treatment. A case report. 8
2777854 1989
36
Tumoral calcinosis with unusual dental radiographic findings. 8
2666895 1989
37
Hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis. 8
2656956 1989
38
Hyperostosis with hyperphosphatemia: a case report and review of the literature. 8
3284908 1988
39
Tumoral calcinosis: clinical and metabolic response to phosphorus deprivation. 8
3659264 1987
40
Hyperphosphatemic tumoral calcinosis: association with elevation of serum 1,25-dihydroxycholecalciferol concentrations. 8
6896123 1982
41
Phosphate depletion therapy in two ectopic calcification syndromes. 8
7185859 1982
42
The syndrome of hyperostosis and hyperphosphatemia. 8
6273518 1981
43
Tumoral calcinosis: scintigraphic studies of an affected family. 8
7426918 1980
44
Calcium and phosphate metabolism in tumoral calcinosis. 8
6244768 1980
45
Tumoral calcinosis: evidence for concurrent defects in renal tubular phosphorus transport and in 1 alpha,25-dihydroxycholecalciferol synthesis. 8
6775776 1980
46
Cutaneous manifestations of tumoral calcinosis. 8
485189 1979
47
Scintiscans of two siblings with tumoral calcinosis. 8
428164 1979
48
Tumoral calcinosis. A clinical and pathological study of eleven unreported cases in Turkey. 8
721867 1978
49
Treatment of tumoral calcinosis with phosphorus deprivation. 8
4538804 1972
50
Cortical hyperostosis with hyperphosphatemia. 8
5116713 1971

Variations for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

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

6 (show top 50) (show all 146)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FGF23 NM_020638.3(FGF23): c.367G> T (p.Gly123Trp) single nucleotide variant Pathogenic rs1220533001 12:4479898-4479898 12:4370732-4370732
2 GALNT3 NM_004482.4(GALNT3): c.505C> T (p.Arg169Ter) single nucleotide variant Pathogenic 2:166626706-166626706 2:165770196-165770196
3 GALNT3 NM_004482.4(GALNT3): c.1720T> G (p.Cys574Gly) single nucleotide variant Pathogenic rs267606841 2:166606311-166606311 2:165749801-165749801
4 GALNT3 NM_004482.4(GALNT3): c.677del (p.Ala226fs) deletion Pathogenic rs786205250 2:166621405-166621405 2:165764895-165764895
5 GALNT3 NM_004482.3(GALNT3): c.1525_1626del single nucleotide variant Pathogenic rs760830864 2:166611136-166611136 2:165754626-165754626
6 GALNT3 NM_004482.4(GALNT3): c.803dup (p.Thr269fs) duplication Pathogenic rs766750282 2:166618450-166618450 2:165761940-165761940
7 GALNT3 NM_004482.4(GALNT3): c.815C> A (p.Thr272Lys) single nucleotide variant Pathogenic rs137853090 2:166618438-166618438 2:165761928-165761928
8 GALNT3 NM_004482.4(GALNT3): c.1441C> T (p.Gln481Ter) single nucleotide variant Pathogenic rs137853089 2:166611525-166611525 2:165755015-165755015
9 GALNT3 NM_004482.4(GALNT3): c.966T> G (p.Tyr322Ter) single nucleotide variant Pathogenic rs137853088 2:166615953-166615953 2:165759443-165759443
10 GALNT3 NM_004482.4(GALNT3): c.1076C> A (p.Thr359Lys) single nucleotide variant Pathogenic rs137853091 2:166615372-166615372 2:165758862-165758862
11 GALNT3 NM_004482.4(GALNT3): c.1774C> T (p.Gln592Ter) single nucleotide variant Pathogenic rs137853087 2:166606257-166606257 2:165749747-165749747
12 GALNT3 NM_004482.3(GALNT3): c.516_688del single nucleotide variant Pathogenic rs761396172 2:166621568-166621568 2:165765058-165765058
13 GALNT3 NM_004482.4(GALNT3): c.1524+5G> A single nucleotide variant Pathogenic rs375879489 2:166611437-166611437 2:165754927-165754927
14 GALNT3 NM_004482.4(GALNT3): c.484C> T (p.Arg162Ter) single nucleotide variant Pathogenic rs137853086 2:166626727-166626727 2:165770217-165770217
15 GALNT3 NM_004482.4(GALNT3): c.1524+1G> A single nucleotide variant Pathogenic rs745655924 2:166611441-166611441 2:165754931-165754931
16 FGF23 NM_020638.3(FGF23): c.385T> C (p.Ser129Pro) single nucleotide variant Pathogenic rs1555096583 12:4479880-4479880 12:4370714-4370714
17 subset of 177 genes:CACNA1C NC_000012.12: g.(1_3750000)_(5250000_9000000)del deletion Pathogenic
18 KL NM_004795.4(KL): c.578A> G (p.His193Arg) single nucleotide variant Likely pathogenic rs121908423 13:33591156-33591156 13:33017018-33017018
19 FGF23 NM_020638.3(FGF23): c.260G> A (p.Gly87Asp) single nucleotide variant Likely pathogenic rs863224872 12:4481815-4481815 12:4372649-4372649
20 GALNT3 NM_004482.4(GALNT3): c.132A> G (p.Gln44=) single nucleotide variant Conflicting interpretations of pathogenicity rs149809222 2:166627079-166627079 2:165770569-165770569
21 FGF23 NM_020638.3(FGF23): c.211A> G (p.Ser71Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs104894342 12:4488538-4488538 12:4379372-4379372
22 GALNT3 NM_004482.4(GALNT3): c.*318T> G single nucleotide variant Uncertain significance rs886055013 2:166604973-166604973 2:165748463-165748463
23 GALNT3 NM_004482.4(GALNT3): c.718G> C (p.Val240Leu) single nucleotide variant Uncertain significance rs146978168 2:166618535-166618535 2:165762025-165762025
24 GALNT3 NM_004482.4(GALNT3): c.-246A> C single nucleotide variant Uncertain significance rs759149342 2:166650662-166650662 2:165794152-165794152
25 GALNT3 NM_004482.4(GALNT3): c.-252C> T single nucleotide variant Uncertain significance rs540533361 2:166650668-166650668 2:165794158-165794158
26 GALNT3 NM_004482.4(GALNT3): c.1451A> C (p.Asn484Thr) single nucleotide variant Uncertain significance rs886055014 2:166611515-166611515 2:165755005-165755005
27 GALNT3 NM_004482.4(GALNT3): c.*143G> A single nucleotide variant Uncertain significance rs771919992 2:166605148-166605148 2:165748638-165748638
28 GALNT3 NM_004482.4(GALNT3): c.851A> G (p.Tyr284Cys) single nucleotide variant Uncertain significance rs539221514 2:166616068-166616068 2:165759558-165759558
29 GALNT3 NM_004482.4(GALNT3): c.-309G> A single nucleotide variant Uncertain significance rs886055017 2:166650725-166650725 2:165794215-165794215
30 GALNT3 NM_004482.3(GALNT3): c.-358C> T single nucleotide variant Uncertain significance rs886055018 2:166650774-166650774 2:165794264-165794264
31 GALNT3 NM_004482.3(GALNT3): c.-367_-363delTCGCC deletion Uncertain significance rs886055019 2:166650779-166650783 2:165794269-165794273
32 GALNT3 NM_004482.4(GALNT3): c.*937C> T single nucleotide variant Uncertain significance rs886055009 2:166604354-166604354 2:165747844-165747844
33 GALNT3 NM_004482.4(GALNT3): c.*934dup duplication Uncertain significance rs144647329 2:166604357-166604357 2:165747847-165747847
34 GALNT3 NM_004482.4(GALNT3): c.*897T> C single nucleotide variant Uncertain significance rs886055010 2:166604394-166604394 2:165747884-165747884
35 GALNT3 NM_004482.4(GALNT3): c.*870A> T single nucleotide variant Uncertain significance rs189290881 2:166604421-166604421 2:165747911-165747911
36 FGF23 NM_020638.3(FGF23): c.*1380_*1382TTC[1] short repeat Uncertain significance rs550329870 12:4478124-4478126 12:4368958-4368960
37 FGF23 NM_020638.3(FGF23): c.*1352T> C single nucleotide variant Uncertain significance rs886049398 12:4478157-4478157 12:4368991-4368991
38 GALNT3 NM_004482.4(GALNT3): c.549C> A (p.Pro183=) single nucleotide variant Uncertain significance rs144776270 2:166621533-166621533 2:165765023-165765023
39 GALNT3 NM_004482.4(GALNT3): c.-238C> T single nucleotide variant Uncertain significance rs886055016 2:166650654-166650654 2:165794144-165794144
40 GALNT3 NM_004482.4(GALNT3): c.*308_*309TA[7] short repeat Uncertain significance rs140333197 2:166604972-166604973 2:165748462-165748463
41 GALNT3 NM_004482.4(GALNT3): c.*27G> T single nucleotide variant Uncertain significance rs775247455 2:166605264-166605264 2:165748754-165748754
42 GALNT3 NM_004482.4(GALNT3): c.507A> G (p.Arg169=) single nucleotide variant Uncertain significance rs150682922 2:166626704-166626704 2:165770194-165770194
43 GALNT3 NM_004482.4(GALNT3): c.504T> C (p.Thr168=) single nucleotide variant Uncertain significance rs183709224 2:166626707-166626707 2:165770197-165770197
44 GALNT3 NM_004482.4(GALNT3): c.493G> A (p.Gly165Arg) single nucleotide variant Uncertain significance rs147779149 2:166626718-166626718 2:165770208-165770208
45 GALNT3 NM_004482.4(GALNT3): c.-227C> T single nucleotide variant Uncertain significance rs886055015 2:166650643-166650643 2:165794133-165794133
46 KL NM_004795.4(KL): c.*722T> C single nucleotide variant Uncertain significance rs183407162 13:33639045-33639045 13:33064908-33064908
47 KL NM_004795.4(KL): c.*735G> A single nucleotide variant Uncertain significance rs527723516 13:33639058-33639058 13:33064921-33064921
48 KL NM_004795.4(KL): c.*1182T> C single nucleotide variant Uncertain significance rs886050125 13:33639505-33639505 13:33065368-33065368
49 KL NM_004795.4(KL): c.*1372T> A single nucleotide variant Uncertain significance rs189084711 13:33639695-33639695 13:33065558-33065558
50 KL NM_004795.4(KL): c.*1750T> C single nucleotide variant Uncertain significance rs886050129 13:33640073-33640073 13:33065936-33065936

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 SHH PPP1R12B KL IHH GPC6 GPC5
2
Show member pathways
13.28 SHH KL IHH GPC6 GPC5 GPC4
3
Show member pathways
12.38 GPC6 GPC5 GPC4 GPC2
4
Show member pathways
12.24 SHH IHH GPC5 DHH
5
Show member pathways
12.18 GPC6 GPC5 GPC4 GPC2
6
Show member pathways
11.95 GPC6 GPC5 GPC4 GPC2
7
Show member pathways
11.95 SHH GPC6 GPC5 GPC2
8
Show member pathways
11.71 GPC6 GPC5 GPC2
9
Show member pathways
11.42 GPC6 GPC5 GPC4 GPC2
10
Show member pathways
10.28 SHH IHH DHH

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 SHH MMP12 KL IHH GPC6 GPC5
2 extracellular region GO:0005576 9.9 SHH MMP12 LIPM KL IHH GPC6
3 collagen-containing extracellular matrix GO:0062023 9.77 SHH GPC6 GPC5 GPC4 GPC2
4 anchored component of membrane GO:0031225 9.71 GPC6 GPC5 GPC4 GPC2
5 lysosomal lumen GO:0043202 9.62 GPC6 GPC5 GPC4 GPC2
6 anchored component of plasma membrane GO:0046658 9.26 GPC6 GPC5 GPC4 GPC2
7 Golgi lumen GO:0005796 9.02 GPC6 GPC5 GPC4 GPC2 FGF23

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor signaling pathway GO:0008543 9.65 KL GALNT3 FGF23
2 smoothened signaling pathway GO:0007224 9.62 SHH IHH GPC2 DHH
3 pancreas development GO:0031016 9.6 SHH IHH
4 branching involved in blood vessel morphogenesis GO:0001569 9.59 SHH IHH
5 vasculature development GO:0001944 9.58 SHH IHH
6 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 SHH IHH
7 embryonic pattern specification GO:0009880 9.57 SHH IHH
8 regulation of muscle contraction GO:0006937 9.56 TNNT2 PPP1R12B
9 retinoid metabolic process GO:0001523 9.56 GPC6 GPC5 GPC4 GPC2
10 cell fate specification GO:0001708 9.55 SHH IHH
11 embryonic digestive tract morphogenesis GO:0048557 9.54 SHH IHH
12 somite development GO:0061053 9.52 SHH IHH
13 positive regulation of T cell differentiation in thymus GO:0033089 9.51 SHH IHH
14 positive regulation of alpha-beta T cell differentiation GO:0046638 9.49 SHH IHH
15 regulation of neurotransmitter receptor localization to postsynaptic specialization membrane GO:0098696 9.46 GPC6 GPC4
16 regulation of signal transduction GO:0009966 9.46 GPC6 GPC5 GPC4 GPC2
17 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.43 KL FGF23
18 negative regulation of alpha-beta T cell differentiation GO:0046639 9.4 SHH IHH
19 intein-mediated protein splicing GO:0016539 9.37 SHH IHH
20 glycosaminoglycan biosynthetic process GO:0006024 9.26 GPC6 GPC5 GPC4 GPC2
21 glycosaminoglycan catabolic process GO:0006027 8.92 GPC6 GPC5 GPC4 GPC2

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 9.43 TNNT2 SHH MMP12 IHH GALNT3 DHH
2 fibroblast growth factor receptor binding GO:0005104 9.26 KL FGF23
3 coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway GO:1904929 9.16 GPC6 GPC4
4 patched binding GO:0005113 8.8 SHH IHH DHH

Sources for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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