HFTC1
MCID: TMR018
MIFTS: 60

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 72
Tumoral Calcinosis, Hyperphosphatemic, Familial 57 20 29 6 70
Hyperphosphatemic Familial Tumoral Calcinosis 12 25 20 43 15
Hyperostosis-Hyperphosphatemia Syndrome 57 25 20 72 70
Hftc 57 12 25 20 43
Cortical Hyperostosis with Hyperphosphatemia 57 12 20 72
Hyperostosis with Hyperphosphatemia 57 12 20 72
Hhs 57 12 20 72
Primary Hyperphosphatemic Tumoral Calcinosis 12 25 43
Lipocalcinogranulomatosis 57 12 72
Morbus Teutschlaender 57 12 72
Phptc 57 12 72
Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome 12 58
Hyperphosphatemic Familial Tumoral Calcinosis 1 29 6
Hyperphosphatemia Hyperostosis Syndrome 12 43
Hyperphosphatemia Tumoral Calcinosis 12 43
Hypercalcemic Tumoral Calcinosis 12 58
Hyperphosphatemia Hyperostosis 12 43
Hftc1 57 72
Familial Tumoral Calcinosis/hyperostosis-Hyperphosphatemia Syndrome 25
Tumoral Calcinosis, Hyperphosphatemic, Familial; Hftc 57
Tumoral Calcinosis, Primary Hyperphosphatemic; Phptc 57
Familial Tumoral Calcinosis with Hyperphosphatemia 72
Calcinosis, Tumoral, Hyperphosphatemic, Familial 39
Tumoral Calcinosis, Primary Hyperphosphatemic 57
Hyperostosis-Hyperphosphatemia Syndrome; Hhs 57
Tumoral Calcinosis Primary Hyperphosphatemic 72
Calcinosis, Tumoral, with Hyperphosphatemia 57
Tumoral Calcinosis with Hyperphosphatemia 12
Teutschlaender Disease, Familial 57
Familial Teutschlaender Disease 12
Teutschlaender Disease 72
Tumoral Calcinosis 70
Ftc/hhs 25

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in first decade of life
variable manifestations
high prevalence among individuals of middle eastern or african descent


HPO:

31
tumoral calcinosis, hyperphosphatemic, familial, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111063
OMIM® 57 211900
ICD10 32 M11.2
ICD10 via Orphanet 33 M11.2
Orphanet 58 ORPHA306661
UMLS 70 C0263628 C1853256 C1876187

Summaries for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

MedlinePlus Genetics : 43 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 tumoral calcinosis, hyperphosphatemic, familial, is related to hypotrichosis 1 and familial tumoral calcinosis. 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 Calcitonin gene-related peptide have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and retina, 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 130)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 1 32.7 SPIN1 SHH IHH GPC6
2 familial tumoral calcinosis 32.1 SAMD9 POMGNT2 PHEX KL GALNT3 FGF23
3 hyperostosis 31.1 KL GALNT3 FGF23
4 hypophosphatemic rickets, x-linked recessive 30.8 SLC34A3 PHEX FGF23
5 rickets 30.6 SLC34A3 PTH PHEX KL FGF23
6 calcinosis 30.3 SAMD9 PHEX KL GALNT3 FGF23
7 hyperphosphatemia 30.3 PTH PHEX KL GALNT3 FGF23
8 tumoral calcinosis, hyperphosphatemic, familial, 2 12.0
9 tumoral calcinosis, hyperphosphatemic, familial, 3 11.9
10 dyskeratosis congenita, x-linked 11.3
11 heart-hand syndrome, slovenian type 11.2
12 charge syndrome 11.1
13 dyskeratosis congenita, autosomal dominant 1 11.0
14 dyskeratosis congenita, autosomal recessive 5 11.0
15 hoyeraal hreidarsson syndrome 11.0
16 hyperinsulinemic hypoglycemia, familial, 6 10.9
17 hypotrichosis simplex 10.9
18 conjunctival deposit 10.4 KL GALNT3 FGF23
19 blount's disease 10.4 SLC34A3 FGF23
20 microcephaly and chorioretinopathy 1 10.4 FGF23 FAM20C
21 dental pulp calcification 10.4 SAMD9 GALNT3
22 opsismodysplasia 10.4 PHEX FGF23
23 pulmonary alveolar microlithiasis 10.4 SLC34A3 GALNT3 FGF23
24 raine syndrome 10.4 FGF23 FAM20C
25 tracheal calcification 10.4 PTH KL FGF23
26 acrocapitofemoral dysplasia 10.4 SHH IHH DHH
27 chronic recurrent multifocal osteomyelitis 10.4
28 angioid streaks 10.4
29 metabolic acidosis 10.4
30 holoprosencephaly 7 10.4 SHH IHH DHH
31 oncogenic osteomalacia 10.4 PTH PHEX FGF23
32 gorham's disease 10.4 PTH GALNT3
33 fanconi renotubular syndrome 2 10.3 SLC34A3 PHEX
34 hereditary multiple exostoses 10.3 POMGNT2 IHH GPC1
35 brachydactyly, type a1 10.3 SHH IHH DHH
36 parathyroid gland disease 10.3 PTH KL FGF23
37 hepatocellular clear cell carcinoma 10.3 KL FGF23
38 pancreas, annular 10.3 SHH IHH
39 infratentorial cancer 10.3 SHH IHH DHH
40 hypervitaminosis d 10.3 PTH KL GALNT3 FGF23
41 schimmelpenning-feuerstein-mims syndrome 10.3 SLC34A3 PHEX GALNT3 FGF23
42 hypophosphatasia 10.3 PTH PHEX FGF23
43 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.3 SLC34A3 PTH KL FGF23
44 bone development disease 10.3 SHH PTH IHH
45 nevus, epidermal 10.3 PHEX GALNT3 FGF23 FAM20C
46 vitamin d-dependent rickets 10.3 PTH PHEX
47 basal cell nevus syndrome 10.3 SHH IHH DHH
48 secondary hyperparathyroidism 10.3 PTH PHEX KL FGF23
49 hyperparathyroidism 10.3 PTH PHEX KL FGF23
50 calciphylaxis 10.3 PTH 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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 nephrocalcinosis 31 HP:0000121
2 taurodontia 31 HP:0000679
3 hyperostosis 31 HP:0100774
4 abnormality of the skin 31 HP:0000951
5 hypoplasia of dental enamel 31 HP:0006297
6 hyperphosphatemia 31 HP:0002905
7 angioid streaks of the fundus 31 HP:0001102
8 calcinosis 31 HP:0003761
9 pulp stones 31 HP:0003771
10 vascular calcification 31 HP:0004934
11 increased renal tubular phosphate reabsorption 31 HP:0005571
12 decreased renal tubular phosphate excretion 31 HP:0005572
13 conjunctival whitish salt-like deposits 31 HP:0007799
14 subperiosteal bone formation 31 HP:0031485

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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

Head And Neck Eyes:
angioid streaks, retina
conjunctival irritation
conjunctival whitish 'salt-like' deposits
eyelid 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
short blunt tooth roots
more
Skeletal Limbs:
cortical hyperostosis
painful swellings of the long bones, acute, recurrent attacks
periosteal reaction
diaphysitis
sclerosis

Cardiovascular Vascular:
vascular calcifications

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

Clinical features from OMIM®:

211900 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 CHSY3 FAM20C FGF23 FURIN GALNT3 GPC4
2 cellular MP:0005384 10.2 FAM20C GALNT3 GPC6 IHH KL PHEX
3 digestive/alimentary MP:0005381 10.14 DHH FAM20C FGF23 FURIN GALNT3 GPC6
4 homeostasis/metabolism MP:0005376 10.1 DHH FAM20C FGF23 GALNT3 GPC1 GPC4
5 craniofacial MP:0005382 10.09 FAM20C GALNT3 GPC4 GPC6 IHH KL
6 endocrine/exocrine gland MP:0005379 10.07 CHSY3 DHH FAM20C FGF23 GALNT3 IHH
7 limbs/digits/tail MP:0005371 9.93 FAM20C FGF23 FURIN GALNT3 GPC6 IHH
8 renal/urinary system MP:0005367 9.56 CHSY3 FAM20C FGF23 GALNT3 KL PHEX
9 skeleton MP:0005390 9.44 CHSY3 FAM20C FGF23 GALNT3 GPC6 IHH

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
Salmon calcitonin Approved, Investigational Phase 2 47931-85-1 16129616
2
Calcitonin gene-related peptide Investigational Phase 2 83652-28-2
3 Vasodilator Agents Phase 2
4 Hormones Phase 2
5 Katacalcin Phase 2
6 calcitonin Phase 2
7 Calcium, Dietary Phase 2
8
Calcium Nutraceutical Phase 2 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Study of Calcitonin for Tumoral Calcinosis Completed NCT00004358 Phase 2 calcitonin

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 Hyperphosphatemic Familial Tumoral Calcinosis 1 29 GALNT3
2 Tumoral Calcinosis, Hyperphosphatemic, Familial 29

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

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

40
Bone, Eye, Retina, Heart, Pancreas, Kidney

Publications for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

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

(show top 50) (show all 122)
# Title Authors PMID Year
1
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. 57 6 25 54 61
20358599 2010
2
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. 6 57 25 54 61
15599692 2005
3
Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. 54 6 57 25
16940445 2006
4
A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. 25 6 57 54
15687324 2005
5
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. 61 54 6 57
16528452 2006
6
Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis. 57 6 25
8338191 1993
7
Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis. 25 57 6
3839626 1985
8
Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity. 25 57 6
3998061 1985
9
Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina. 6 57 25
13774168 1961
10
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. 6 57 54
15133511 2004
11
Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family. 54 25 6
18618993 2008
12
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 57 54 25
17710231 2007
13
Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. 54 25 6
17311862 2007
14
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. 61 57 25
16151858 2005
15
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. 25 6 54
15590700 2005
16
Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing. 25 6
25378588 2014
17
Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. 54 6 61
17351710 2007
18
Tumoral calcinosis, diaphysitis, and hyperphosphatemia. 57 25
6718723 1984
19
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. 61 54 25
19188744 2009
20
Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis? 61 25
27163355 2016
21
Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). 61 25
26337219 2015
22
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis. 61 25
25351881 2015
23
Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features. 61 25
25537063 2014
24
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. 25 61
25249269 2014
25
Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms. 61 25
24668887 2014
26
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. 61 25
21347749 2011
27
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. 25 54
19830424 2010
28
Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis. 25 54
19837926 2009
29
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. 25 54
18982401 2009
30
A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis. 25 54
19411468 2009
31
Two novel GALNT3 mutations in familial tumoral calcinosis. 54 25
17853462 2007
32
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. 54 25
16567474 2006
33
Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation. 57
10379593 1999
34
Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis. 57
9113957 1997
35
Tumoral calcinosis: successful medical treatment. A case report. 57
2777854 1989
36
Tumoral calcinosis with unusual dental radiographic findings. 57
2666895 1989
37
Hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis. 57
2656956 1989
38
Hyperostosis with hyperphosphatemia: a case report and review of the literature. 57
3284908 1988
39
Tumoral calcinosis: clinical and metabolic response to phosphorus deprivation. 57
3659264 1987
40
Hyperphosphatemic tumoral calcinosis: association with elevation of serum 1,25-dihydroxycholecalciferol concentrations. 57
6896123 1982
41
Phosphate depletion therapy in two ectopic calcification syndromes. 57
7185859 1982
42
The syndrome of hyperostosis and hyperphosphatemia. 57
6273518 1981
43
Tumoral calcinosis: scintigraphic studies of an affected family. 57
7426918 1980
44
Calcium and phosphate metabolism in tumoral calcinosis. 57
6244768 1980
45
Tumoral calcinosis: evidence for concurrent defects in renal tubular phosphorus transport and in 1 alpha,25-dihydroxycholecalciferol synthesis. 57
6775776 1980
46
Cutaneous manifestations of tumoral calcinosis. 57
485189 1979
47
Scintiscans of two siblings with tumoral calcinosis. 57
428164 1979
48
Tumoral calcinosis. A clinical and pathological study of eleven unreported cases in Turkey. 57
721867 1978
49
Treatment of tumoral calcinosis with phosphorus deprivation. 57
4538804 1972
50
Cortical hyperostosis with hyperphosphatemia. 57
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 83)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGF23 NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) SNV Pathogenic 5027 rs104894342 GRCh37: 12:4488538-4488538
GRCh38: 12:4379372-4379372
2 GALNT3 NM_004482.4(GALNT3):c.803dup (p.Thr269fs) Duplication Pathogenic 7800 rs766750282 GRCh37: 2:166618449-166618450
GRCh38: 2:165761939-165761940
3 GALNT3 NM_004482.4(GALNT3):c.1626+1G>A SNV Pathogenic 7801 rs760830864 GRCh37: 2:166611136-166611136
GRCh38: 2:165754626-165754626
4 GALNT3 NM_004482.4(GALNT3):c.677del (p.Ala226fs) Deletion Pathogenic 7802 rs786205250 GRCh37: 2:166621405-166621405
GRCh38: 2:165764895-165764895
5 GALNT3 NM_004482.4(GALNT3):c.1720T>G (p.Cys574Gly) SNV Pathogenic 7803 rs267606841 GRCh37: 2:166606311-166606311
GRCh38: 2:165749801-165749801
6 GALNT3 NM_004482.4(GALNT3):c.815C>A (p.Thr272Lys) SNV Pathogenic 7799 rs137853090 GRCh37: 2:166618438-166618438
GRCh38: 2:165761928-165761928
7 GALNT3 NM_004482.4(GALNT3):c.1441C>T (p.Gln481Ter) SNV Pathogenic 7798 rs137853089 GRCh37: 2:166611525-166611525
GRCh38: 2:165755015-165755015
8 GALNT3 NM_004482.4(GALNT3):c.966T>G (p.Tyr322Ter) SNV Pathogenic 7797 rs137853088 GRCh37: 2:166615953-166615953
GRCh38: 2:165759443-165759443
9 GALNT3 NM_004482.4(GALNT3):c.1076C>A (p.Thr359Lys) SNV Pathogenic 7796 rs137853091 GRCh37: 2:166615372-166615372
GRCh38: 2:165758862-165758862
10 GALNT3 NM_004482.4(GALNT3):c.1774C>T (p.Gln592Ter) SNV Pathogenic 7795 rs137853087 GRCh37: 2:166606257-166606257
GRCh38: 2:165749747-165749747
11 GALNT3 NM_004482.4(GALNT3):c.516-2A>T SNV Pathogenic 7794 rs761396172 GRCh37: 2:166621568-166621568
GRCh38: 2:165765058-165765058
12 GALNT3 NM_004482.4(GALNT3):c.1524+5G>A SNV Pathogenic 7793 rs375879489 GRCh37: 2:166611437-166611437
GRCh38: 2:165754927-165754927
13 GALNT3 NM_004482.4(GALNT3):c.484C>T (p.Arg162Ter) SNV Pathogenic 7792 rs137853086 GRCh37: 2:166626727-166626727
GRCh38: 2:165770217-165770217
14 GALNT3 NM_004482.4(GALNT3):c.1524+1G>A SNV Pathogenic 7791 rs745655924 GRCh37: 2:166611441-166611441
GRCh38: 2:165754931-165754931
15 FGF23 NM_020638.3(FGF23):c.385T>C (p.Ser129Pro) SNV Pathogenic 444061 rs1555096583 GRCh37: 12:4479880-4479880
GRCh38: 12:4370714-4370714
16 FGF23 NM_020638.3(FGF23):c.367G>T (p.Gly123Trp) SNV Pathogenic 444062 rs1220533001 GRCh37: 12:4479898-4479898
GRCh38: 12:4370732-4370732
17 GALNT3 NM_004482.4(GALNT3):c.505C>T (p.Arg169Ter) SNV Pathogenic 561015 rs775341386 GRCh37: 2:166626706-166626706
GRCh38: 2:165770196-165770196
18 overlap with 185 genes NC_000012.12:g.(1_3750000)_(5250000_9000000)del Deletion Pathogenic 619591 GRCh37:
GRCh38: 12:1-9000000
19 KL NM_004795.4(KL):c.578A>G (p.His193Arg) SNV Pathogenic 5346 rs121908423 GRCh37: 13:33591156-33591156
GRCh38: 13:33017018-33017018
20 KL NM_004795.4(KL):c.1756C>T (p.Gln586Ter) SNV Pathogenic 1032941 GRCh37: 13:33634972-33634972
GRCh38: 13:33060835-33060835
21 FGF23 NM_020638.3(FGF23):c.260G>A (p.Gly87Asp) SNV Likely pathogenic 216929 rs863224872 GRCh37: 12:4481815-4481815
GRCh38: 12:4372649-4372649
22 FGF23 NM_020638.3(FGF23):c.*340_*344del Deletion Uncertain significance 308794 rs886049406 GRCh37: 12:4479165-4479169
GRCh38: 12:4369999-4370003
23 GALNT3 NM_004482.4(GALNT3):c.549C>A (p.Pro183=) SNV Uncertain significance 331785 rs144776270 GRCh37: 2:166621533-166621533
GRCh38: 2:165765023-165765023
24 FGF23 NM_020638.3(FGF23):c.*368_*373del Deletion Uncertain significance 308791 rs886049403 GRCh37: 12:4479136-4479141
GRCh38: 12:4369970-4369975
25 GALNT3 NM_004482.4(GALNT3):c.493G>A (p.Gly165Arg) SNV Uncertain significance 331788 rs147779149 GRCh37: 2:166626718-166626718
GRCh38: 2:165770208-165770208
26 GALNT3 NM_004482.4(GALNT3):c.-238C>T SNV Uncertain significance 331790 rs886055016 GRCh37: 2:166650654-166650654
GRCh38: 2:165794144-165794144
27 FGF23 NM_020638.3(FGF23):c.*367_*372del Deletion Uncertain significance 308793 rs58735464 GRCh37: 12:4479137-4479142
GRCh38: 12:4369971-4369976
28 GALNT3 NM_004482.3(GALNT3):c.-367_-363delTCGCC Deletion Uncertain significance 331796 rs886055019 GRCh37: 2:166650779-166650783
GRCh38: 2:165794269-165794273
29 GALNT3 NM_004482.4(GALNT3):c.*897T>C SNV Uncertain significance 331771 rs886055010 GRCh37: 2:166604394-166604394
GRCh38: 2:165747884-165747884
30 GALNT3 NM_004482.4(GALNT3):c.*318T>G SNV Uncertain significance 331777 rs886055013 GRCh37: 2:166604973-166604973
GRCh38: 2:165748463-165748463
31 GALNT3 NM_004482.4(GALNT3):c.*27G>T SNV Uncertain significance 331780 rs775247455 GRCh37: 2:166605264-166605264
GRCh38: 2:165748754-165748754
32 GALNT3 NM_004482.4(GALNT3):c.507A>G (p.Arg169=) SNV Uncertain significance 331786 rs150682922 GRCh37: 2:166626704-166626704
GRCh38: 2:165770194-165770194
33 GALNT3 NM_004482.4(GALNT3):c.718G>C (p.Val240Leu) SNV Uncertain significance 331783 rs146978168 GRCh37: 2:166618535-166618535
GRCh38: 2:165762025-165762025
34 FGF23 NM_020638.3(FGF23):c.*372_*377del Deletion Uncertain significance 308790 rs886049402 GRCh37: 12:4479132-4479137
GRCh38: 12:4369966-4369971
35 FGF23 NM_020638.3(FGF23):c.*369_*372del Deletion Uncertain significance 308792 rs58735464 GRCh37: 12:4479137-4479140
GRCh38: 12:4369971-4369974
36 FGF23 NM_020638.3(FGF23):c.*337_*340del Deletion Uncertain significance 308795 rs886049407 GRCh37: 12:4479169-4479172
GRCh38: 12:4370003-4370006
37 GALNT3 NM_004482.4(GALNT3):c.*937C>T SNV Uncertain significance 331769 rs886055009 GRCh37: 2:166604354-166604354
GRCh38: 2:165747844-165747844
38 GALNT3 NM_004482.3(GALNT3):c.-358C>T SNV Uncertain significance 331795 rs886055018 GRCh37: 2:166650774-166650774
GRCh38: 2:165794264-165794264
39 GALNT3 NM_004482.4(GALNT3):c.*934dup Duplication Uncertain significance 331770 rs144647329 GRCh37: 2:166604356-166604357
GRCh38: 2:165747846-165747847
40 GALNT3 NM_004482.4(GALNT3):c.*870A>T SNV Uncertain significance 331772 rs189290881 GRCh37: 2:166604421-166604421
GRCh38: 2:165747911-165747911
41 GALNT3 NM_004482.4(GALNT3):c.-246A>C SNV Uncertain significance 331791 rs759149342 GRCh37: 2:166650662-166650662
GRCh38: 2:165794152-165794152
42 GALNT3 NM_004482.4(GALNT3):c.1451A>C (p.Asn484Thr) SNV Uncertain significance 331781 rs886055014 GRCh37: 2:166611515-166611515
GRCh38: 2:165755005-165755005
43 GALNT3 NM_004482.4(GALNT3):c.-309G>A SNV Uncertain significance 331794 rs886055017 GRCh37: 2:166650725-166650725
GRCh38: 2:165794215-165794215
44 GALNT3 NM_004482.4(GALNT3):c.-227C>T SNV Uncertain significance 331789 rs886055015 GRCh37: 2:166650643-166650643
GRCh38: 2:165794133-165794133
45 GALNT3 NM_004482.4(GALNT3):c.-252C>T SNV Uncertain significance 331792 rs540533361 GRCh37: 2:166650668-166650668
GRCh38: 2:165794158-165794158
46 KL NM_004795.4(KL):c.*202_*205del Deletion Uncertain significance 311714 rs886050122 GRCh37: 13:33638523-33638526
GRCh38: 13:33064386-33064389
47 GALNT3 NM_004482.4(GALNT3):c.*143G>A SNV Uncertain significance 331779 rs771919992 GRCh37: 2:166605148-166605148
GRCh38: 2:165748638-165748638
48 GALNT3 NM_004482.4(GALNT3):c.851A>G (p.Tyr284Cys) SNV Uncertain significance 331782 rs539221514 GRCh37: 2:166616068-166616068
GRCh38: 2:165759558-165759558
49 GALNT3 NM_004482.4(GALNT3):c.*319A>C SNV Uncertain significance 331776 rs886055012 GRCh37: 2:166604972-166604972
GRCh38: 2:165748462-165748462
50 FGF23 NM_020638.3(FGF23):c.*1380_*1382TTC[1] Microsatellite Uncertain significance 308780 rs550329870 GRCh37: 12:4478124-4478126
GRCh38: 12:4368958-4368960

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 SHH SCUBE2 PTH KL IHH GPC6
2
Show member pathways
13.39 SHH KL IHH GPC6 GPC5 GPC4
3
Show member pathways
12.68 GPC6 GPC5 GPC4 GPC1 CHSY3
4
Show member pathways
12.39 SHH SCUBE2 IHH GPC5 DHH
5
Show member pathways
12.31 GPC6 GPC5 GPC4 GPC1 CHSY3
6
Show member pathways
12.22 SHH PTH IHH DHH
7
Show member pathways
12.14 GPC6 GPC5 GPC4 GPC1
8
Show member pathways
11.9 GPC6 GPC5 GPC4 GPC1
9 11.48 SLC34A3 PTH KL FGF23
10 11.14 SHH PTH IHH
11
Show member pathways
10.95 SHH IHH DHH
12 10.69 PTH FGF23
13 10.67 SHH SCUBE2 IHH DHH
14
Show member pathways
10.41 SHH IHH DHH
15 10.4 SHH FURIN

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 9.97 SHH SCUBE2 PTH KL IHH GPC6
2 cell surface GO:0009986 9.87 SHH SCUBE2 GPC6 GPC5 GPC4 GPC1
3 collagen-containing extracellular matrix GO:0062023 9.83 SHH GPC6 GPC5 GPC4 GPC1
4 anchored component of membrane GO:0031225 9.71 GPC6 GPC5 GPC4 GPC1
5 lysosomal lumen GO:0043202 9.67 GPC6 GPC5 GPC4 GPC1
6 anchored component of plasma membrane GO:0046658 9.56 GPC6 GPC5 GPC4 GPC1
7 extracellular space GO:0005615 9.44 SHH SCUBE2 PTH KL IHH GPC6
8 Golgi lumen GO:0005796 9.43 GPC6 GPC5 GPC4 GPC1 FURIN FGF23

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 10.04 SHH PHEX IHH FURIN DHH
2 regulation of gene expression GO:0010468 9.95 SHH PTH IHH DHH
3 cell migration GO:0016477 9.92 GPC6 GPC5 GPC4 GPC1
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.78 KL GALNT3 FGF23
5 cell-cell signaling GO:0007267 9.77 SHH PTH PHEX IHH DHH
6 smoothened signaling pathway GO:0007224 9.73 SHH IHH DHH
7 positive regulation of smoothened signaling pathway GO:0045880 9.69 SHH SCUBE2 IHH
8 cell fate specification GO:0001708 9.67 SHH IHH DHH
9 synaptic membrane adhesion GO:0099560 9.66 GPC6 GPC4
10 positive regulation of mesenchymal cell proliferation GO:0002053 9.65 SHH IHH
11 response to vitamin D GO:0033280 9.64 PTH PHEX
12 somite development GO:0061053 9.64 SHH IHH
13 embryonic digestive tract morphogenesis GO:0048557 9.63 SHH IHH
14 positive regulation of ossification GO:0045778 9.63 SCUBE2 PTH
15 cellular response to vitamin D GO:0071305 9.62 PHEX FGF23
16 retinoid metabolic process GO:0001523 9.62 GPC6 GPC5 GPC4 GPC1
17 smooth muscle tissue development GO:0048745 9.61 SHH IHH
18 positive regulation of alpha-beta T cell differentiation GO:0046638 9.6 SHH IHH
19 positive regulation of T cell differentiation in thymus GO:0033089 9.59 SHH IHH
20 regulation of neurotransmitter receptor localization to postsynaptic specialization membrane GO:0098696 9.58 GPC6 GPC4
21 cellular response to parathyroid hormone stimulus GO:0071374 9.58 PHEX FGF23
22 protein autoprocessing GO:0016540 9.58 SHH IHH DHH
23 cellular phosphate ion homeostasis GO:0030643 9.57 SLC34A3 FGF23
24 glycosaminoglycan biosynthetic process GO:0006024 9.56 GPC6 GPC5 GPC4 GPC1
25 phosphate ion homeostasis GO:0055062 9.55 PTH FGF23
26 chondrocyte differentiation involved in endochondral bone morphogenesis GO:0003413 9.54 SCUBE2 IHH
27 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.52 KL FGF23
28 response to sodium phosphate GO:1904383 9.48 PHEX FGF23
29 negative regulation of alpha-beta T cell differentiation GO:0046639 9.46 SHH IHH
30 glycosaminoglycan catabolic process GO:0006027 9.46 GPC6 GPC5 GPC4 GPC1
31 intein-mediated protein splicing GO:0016539 9.43 SHH IHH
32 regulation of signal transduction GO:0009966 9.35 GPC6 GPC5 GPC4 GPC1 FURIN
33 regulation of protein localization to membrane GO:1905475 8.92 GPC6 GPC5 GPC4 GPC1

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.55 SHH PHEX IHH FURIN DHH
2 fibroblast growth factor binding GO:0017134 9.26 KL GPC1
3 coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway GO:1904929 8.96 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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