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 56 73
Hyperphosphatemic Familial Tumoral Calcinosis 12 24 52 25 15
Hyperostosis-Hyperphosphatemia Syndrome 56 24 52 73 71
Hftc 56 12 24 52 25
Tumoral Calcinosis, Hyperphosphatemic, Familial 56 52 6 71
Cortical Hyperostosis with Hyperphosphatemia 56 12 52 73
Hyperostosis with Hyperphosphatemia 56 12 52 73
Hhs 56 12 52 73
Primary Hyperphosphatemic Tumoral Calcinosis 12 24 25
Lipocalcinogranulomatosis 56 12 73
Morbus Teutschlaender 56 12 73
Phptc 56 12 73
Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome 12 58
Hyperphosphatemia Hyperostosis Syndrome 12 25
Hyperphosphatemia Tumoral Calcinosis 12 25
Hypercalcemic Tumoral Calcinosis 12 58
Hyperphosphatemia Hyperostosis 12 25
Hftc1 56 73
Familial Tumoral Calcinosis/hyperostosis-Hyperphosphatemia Syndrome 24
Tumoral Calcinosis, Hyperphosphatemic, Familial; Hftc 56
Tumoral Calcinosis, Primary Hyperphosphatemic; Phptc 56
Familial Tumoral Calcinosis with Hyperphosphatemia 73
Calcinosis, Tumoral, Hyperphosphatemic, Familial 39
Tumoral Calcinosis, Familial, Hyperphosphatemic 29
Hyperphosphatemic Familial Tumoral Calcinosis 1 6
Tumoral Calcinosis, Primary Hyperphosphatemic 56
Hyperostosis-Hyperphosphatemia Syndrome; Hhs 56
Tumoral Calcinosis Primary Hyperphosphatemic 73
Calcinosis, Tumoral, with Hyperphosphatemia 56
Tumoral Calcinosis with Hyperphosphatemia 12
Teutschlaender Disease, Familial 56
Familial Teutschlaender Disease 12
Teutschlaender Disease 73
Tumoral Calcinosis 71
Ftc/hhs 24

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
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:

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 56 211900
ICD10 32 M11.2
ICD10 via Orphanet 33 M11.2
Orphanet 58 ORPHA306661
UMLS 71 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 Chondroitin sulfate/dermatan sulfate metabolism and Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. 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 : 56 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 : 73 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 222)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 1 33.7 SPIN1 SHH IHH CD2AP
2 hyperostosis 31.4 KL GALNT3 FGF23
3 hyperphosphatemia 31.0 PHEX KL GALNT3 FGF23
4 hypophosphatemic rickets, x-linked recessive 30.9 SLC34A3 PHEX FGF23
5 calcinosis 30.9 SAMD9 PHEX KL GALNT3 FGF23
6 rickets 30.9 SLC34A3 PHEX KL FGF23
7 familial tumoral calcinosis 30.8 SAMD9 POMGNT2 PHEX KL GALNT3 FGF23
8 tumoral calcinosis, hyperphosphatemic, familial, 2 13.0
9 tumoral calcinosis, hyperphosphatemic, familial, 3 12.9
10 hemochromatosis, type 1 11.8
11 hypogonadotropic hypogonadism 7 with or without anosmia 11.8
12 dyskeratosis congenita, x-linked 11.8
13 heart-hand syndrome, slovenian type 11.7
14 hypogonadotropic hypogonadism 11.7
15 hypogonadotropic hypogonadism 15 with or without anosmia 11.4
16 hypothalamic hamartomas 11.3
17 charge syndrome 11.3
18 dyskeratosis congenita, autosomal dominant 1 11.2
19 hypogonadotropic hypogonadism 2 with or without anosmia 11.2
20 dyskeratosis congenita, autosomal recessive 5 11.2
21 kallmann syndrome 11.2
22 hoyeraal hreidarsson syndrome 11.2
23 hyperinsulinemic hypoglycemia, familial, 6 11.2
24 hypotrichosis simplex 11.2
25 hypogonadotropic hypogonadism 3 with or without anosmia 11.0
26 hypogonadotropic hypogonadism 4 with or without anosmia 11.0
27 hypogonadotropic hypogonadism 5 with or without anosmia 11.0
28 hypogonadotropic hypogonadism 6 with or without anosmia 11.0
29 hypogonadotropic hypogonadism 8 with or without anosmia 11.0
30 hypogonadotropic hypogonadism 9 with or without anosmia 11.0
31 hypogonadotropic hypogonadism 10 with or without anosmia 11.0
32 hypogonadotropic hypogonadism 11 with or without anosmia 11.0
33 hypogonadotropic hypogonadism 12 with or without anosmia 11.0
34 hypogonadotropic hypogonadism 13 with or without anosmia 11.0
35 hypogonadotropic hypogonadism 14 with or without anosmia 11.0
36 hypogonadotropic hypogonadism 16 with or without anosmia 11.0
37 hypogonadotropic hypogonadism 17 with or without anosmia 11.0
38 hypogonadotropic hypogonadism 18 with or without anosmia 11.0
39 hypogonadotropic hypogonadism 19 with or without anosmia 11.0
40 hypogonadotropic hypogonadism 20 with or without anosmia 11.0
41 hypogonadotropic hypogonadism 21 with or without anosmia 11.0
42 hypogonadotropic hypogonadism 22 with or without anosmia 11.0
43 bombay phenotype 11.0
44 conjunctival deposit 10.6 KL GALNT3 FGF23
45 hypervitaminosis d 10.6 KL GALNT3 FGF23
46 dental pulp calcification 10.5 SAMD9 KL GALNT3
47 human immunodeficiency virus type 1 10.5
48 pulmonary alveolar microlithiasis 10.5 SLC34A3 GALNT3 FGF23
49 opsismodysplasia 10.5 PHEX FGF23
50 oncogenic osteomalacia 10.5 PHEX 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 hyperphosphatemia 31 HP:0002905
6 hypoplasia of dental enamel 31 HP:0006297
7 pulp stones 31 HP:0003771
8 calcinosis 31 HP:0003761
9 angioid streaks of the fundus 31 HP:0001102
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:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 CD2AP CHSY3 FAM20C FGF23 GALNT3 GPC6
2 homeostasis/metabolism MP:0005376 10.17 CD2AP DHH FAM20C FGF23 GALNT3 GPC1
3 digestive/alimentary MP:0005381 10.13 DHH FAM20C FGF23 GALNT3 GPC6 IHH
4 endocrine/exocrine gland MP:0005379 10.1 CD2AP CHSY3 DHH FAM20C FGF23 GALNT3
5 craniofacial MP:0005382 10 FAM20C GALNT3 GPC6 IHH KL PHEX
6 limbs/digits/tail MP:0005371 9.91 FAM20C FGF23 GALNT3 GPC6 IHH KL
7 renal/urinary system MP:0005367 9.81 CD2AP CHSY3 FAM20C FGF23 GALNT3 KL
8 reproductive system MP:0005389 9.61 CHSY3 DHH FAM20C FGF23 GALNT3 KL
9 skeleton MP:0005390 9.44 CHSY3 FAM20C FGF23 GALNT3 GPC5 GPC6

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 17)
# 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 Vasodilator Agents Phase 2
5 Katacalcin Phase 2
6 Hormones Phase 2
7 Calcium, Dietary Phase 2
8 calcitonin Phase 2
9 Anti-Bacterial Agents Phase 2
10 Anti-Infective Agents Phase 2
11 Antitubercular Agents Phase 2
12 Antioxidants Phase 2
13 Chelating Agents Phase 2
14 Protective Agents Phase 2
15 sodium thiosulfate Phase 2
16 Antidotes Phase 2
17 Pharmaceutical Solutions 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:

40
Bone, Skin, Eye, Brain, Heart, Myeloid, Retina

Publications for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

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

(show top 50) (show all 116)
# Title Authors PMID Year
1
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. 54 61 24 56 6
20358599 2010
2
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. 54 61 24 56 6
15599692 2005
3
Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. 54 24 56 6
16940445 2006
4
A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. 54 24 56 6
15687324 2005
5
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. 54 61 56 6
16528452 2006
6
Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis. 24 56 6
8338191 1993
7
Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis. 24 56 6
3839626 1985
8
Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity. 24 56 6
3998061 1985
9
Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina. 24 56 6
13774168 1961
10
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. 54 56 6
15133511 2004
11
Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family. 54 24 6
18618993 2008
12
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 54 24 56
17710231 2007
13
Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. 54 24 6
17311862 2007
14
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. 61 24 56
16151858 2005
15
Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. 54 61 6
17351710 2007
16
Tumoral calcinosis, diaphysitis, and hyperphosphatemia. 24 56
6718723 1984
17
Hyperphosphatemic Familial Tumoral Calcinosis 61 6
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. 54 61 24
19188744 2009
19
Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis? 61 24
27163355 2016
20
Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). 61 24
26337219 2015
21
GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis. 61 24
25351881 2015
22
Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features. 61 24
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. 61 24
25249269 2014
24
Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms. 61 24
24668887 2014
25
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. 61 24
21347749 2011
26
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. 54 24
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. 54 24
19837926 2009
28
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. 54 24
18982401 2009
29
A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis. 54 24
19411468 2009
30
Two novel GALNT3 mutations in familial tumoral calcinosis. 54 24
17853462 2007
31
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family. 54 24
16567474 2006
32
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. 54 24
15590700 2005
33
Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation. 56
10379593 1999
34
Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis. 56
9113957 1997
35
Tumoral calcinosis: successful medical treatment. A case report. 56
2777854 1989
36
Tumoral calcinosis with unusual dental radiographic findings. 56
2666895 1989
37
Hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis. 56
2656956 1989
38
Hyperostosis with hyperphosphatemia: a case report and review of the literature. 56
3284908 1988
39
Tumoral calcinosis: clinical and metabolic response to phosphorus deprivation. 56
3659264 1987
40
Hyperphosphatemic tumoral calcinosis: association with elevation of serum 1,25-dihydroxycholecalciferol concentrations. 56
6896123 1982
41
Phosphate depletion therapy in two ectopic calcification syndromes. 56
7185859 1982
42
The syndrome of hyperostosis and hyperphosphatemia. 56
6273518 1981
43
Tumoral calcinosis: scintigraphic studies of an affected family. 56
7426918 1980
44
Calcium and phosphate metabolism in tumoral calcinosis. 56
6244768 1980
45
Tumoral calcinosis: evidence for concurrent defects in renal tubular phosphorus transport and in 1 alpha,25-dihydroxycholecalciferol synthesis. 56
6775776 1980
46
Cutaneous manifestations of tumoral calcinosis. 56
485189 1979
47
Scintiscans of two siblings with tumoral calcinosis. 56
428164 1979
48
Tumoral calcinosis. A clinical and pathological study of eleven unreported cases in Turkey. 56
721867 1978
49
Treatment of tumoral calcinosis with phosphorus deprivation. 56
4538804 1972
50
Cortical hyperostosis with hyperphosphatemia. 56
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 147) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GALNT3 NM_004482.4(GALNT3):c.1524+1G>ASNV Pathogenic 7791 rs745655924 2:166611441-166611441 2:165754931-165754931
2 GALNT3 NM_004482.4(GALNT3):c.484C>T (p.Arg162Ter)SNV Pathogenic 7792 rs137853086 2:166626727-166626727 2:165770217-165770217
3 GALNT3 NM_004482.4(GALNT3):c.1524+5G>ASNV Pathogenic 7793 rs375879489 2:166611437-166611437 2:165754927-165754927
4 GALNT3 NM_004482.4(GALNT3):c.516-2A>TSNV Pathogenic 7794 rs761396172 2:166621568-166621568 2:165765058-165765058
5 GALNT3 NM_004482.4(GALNT3):c.1774C>T (p.Gln592Ter)SNV Pathogenic 7795 rs137853087 2:166606257-166606257 2:165749747-165749747
6 GALNT3 NM_004482.4(GALNT3):c.1076C>A (p.Thr359Lys)SNV Pathogenic 7796 rs137853091 2:166615372-166615372 2:165758862-165758862
7 GALNT3 NM_004482.4(GALNT3):c.966T>G (p.Tyr322Ter)SNV Pathogenic 7797 rs137853088 2:166615953-166615953 2:165759443-165759443
8 GALNT3 NM_004482.4(GALNT3):c.1441C>T (p.Gln481Ter)SNV Pathogenic 7798 rs137853089 2:166611525-166611525 2:165755015-165755015
9 GALNT3 NM_004482.4(GALNT3):c.815C>A (p.Thr272Lys)SNV Pathogenic 7799 rs137853090 2:166618438-166618438 2:165761928-165761928
10 GALNT3 NM_004482.4(GALNT3):c.803dup (p.Thr269fs)duplication Pathogenic 7800 rs766750282 2:166618449-166618450 2:165761939-165761940
11 GALNT3 NM_004482.4(GALNT3):c.1626+1G>ASNV Pathogenic 7801 rs760830864 2:166611136-166611136 2:165754626-165754626
12 GALNT3 NM_004482.4(GALNT3):c.677del (p.Ala226fs)deletion Pathogenic 7802 rs786205250 2:166621405-166621405 2:165764895-165764895
13 GALNT3 NM_004482.4(GALNT3):c.1720T>G (p.Cys574Gly)SNV Pathogenic 7803 rs267606841 2:166606311-166606311 2:165749801-165749801
14 FGF23 NM_020638.3(FGF23):c.385T>C (p.Ser129Pro)SNV Pathogenic 444061 rs1555096583 12:4479880-4479880 12:4370714-4370714
15 FGF23 NM_020638.3(FGF23):c.367G>T (p.Gly123Trp)SNV Pathogenic 444062 rs1220533001 12:4479898-4479898 12:4370732-4370732
16 GALNT3 NM_004482.4(GALNT3):c.505C>T (p.Arg169Ter)SNV Pathogenic 561015 rs775341386 2:166626706-166626706 2:165770196-165770196
17 subset of 185 genes: CACNA1C NC_000012.12:g.(1_3750000)_(5250000_9000000)deldeletion Pathogenic 619591 12:1-9000000
18 FGF23 NM_020638.3(FGF23):c.260G>A (p.Gly87Asp)SNV Likely pathogenic 216929 rs863224872 12:4481815-4481815 12:4372649-4372649
19 KL NM_004795.4(KL):c.578A>G (p.His193Arg)SNV Likely pathogenic 5346 rs121908423 13:33591156-33591156 13:33017018-33017018
20 GALNT3 NM_004482.4(GALNT3):c.132A>G (p.Gln44=)SNV Conflicting interpretations of pathogenicity 195225 rs149809222 2:166627079-166627079 2:165770569-165770569
21 FGF23 NM_020638.3(FGF23):c.211A>G (p.Ser71Gly)SNV Conflicting interpretations of pathogenicity 5027 rs104894342 12:4488538-4488538 12:4379372-4379372
22 GALNT3 NM_004482.4(GALNT3):c.507A>G (p.Arg169=)SNV Conflicting interpretations of pathogenicity 331786 rs150682922 2:166626704-166626704 2:165770194-165770194
23 KL NM_004795.4(KL):c.3008A>G (p.Tyr1003Cys)SNV Conflicting interpretations of pathogenicity 311709 rs35328951 13:33638292-33638292 13:33064155-33064155
24 KL NM_004795.4(KL):c.*26T>GSNV Uncertain significance 311711 rs886050120 13:33638349-33638349 13:33064212-33064212
25 KL NM_004795.4(KL):c.*771C>TSNV Uncertain significance 311720 rs886050123 13:33639094-33639094 13:33064957-33064957
26 KL NM_004795.4(KL):c.2626G>A (p.Asp876Asn)SNV Uncertain significance 311706 rs146235320 13:33635842-33635842 13:33061705-33061705
27 KL NM_004795.4(KL):c.*1509T>GSNV Uncertain significance 311727 rs886050126 13:33639832-33639832 13:33065695-33065695
28 KL NM_004795.4(KL):c.*1565T>CSNV Uncertain significance 311728 rs886050127 13:33639888-33639888 13:33065751-33065751
29 KL NM_004795.4(KL):c.*1950C>ASNV Uncertain significance 311735 rs886050130 13:33640273-33640273 13:33066136-33066136
30 KL NM_004795.4(KL):c.511C>A (p.Arg171Ser)SNV Uncertain significance 311684 rs200517420 13:33591089-33591089 13:33016951-33016951
31 FGF23 NM_020638.3(FGF23):c.331G>A (p.Glu111Lys)SNV Uncertain significance 308807 rs765478662 12:4479934-4479934 12:4370768-4370768
32 FGF23 NM_020638.3(FGF23):c.-55C>ASNV Uncertain significance 308810 rs760895385 12:4488803-4488803 12:4379637-4379637
33 FGF23 NM_020638.3(FGF23):c.*1925A>GSNV Uncertain significance 308774 rs886049397 12:4477584-4477584 12:4368418-4368418
34 FGF23 NM_020638.3(FGF23):c.*367_*372deldeletion Uncertain significance 308793 rs58735464 12:4479137-4479142 12:4369971-4369976
35 FGF23 NM_020638.3(FGF23):c.*340_*344deldeletion Uncertain significance 308794 rs886049406 12:4479165-4479169 12:4369999-4370003
36 FGF23 NM_020638.3(FGF23):c.*278G>CSNV Uncertain significance 308796 rs886049408 12:4479231-4479231 12:4370065-4370065
37 FGF23 NM_020638.3(FGF23):c.*93G>ASNV Uncertain significance 308799 rs886049410 12:4479416-4479416 12:4370250-4370250
38 FGF23 NM_020638.3(FGF23):c.*28C>GSNV Uncertain significance 308801 rs886049411 12:4479481-4479481 12:4370315-4370315
39 FGF23 NM_020638.3(FGF23):c.57G>A (p.Met19Ile)SNV Uncertain significance 308808 rs766148024 12:4488692-4488692 12:4379526-4379526
40 KL NM_004795.4(KL):c.191G>A (p.Gly64Asp)SNV Uncertain significance 311679 rs749006234 13:33590769-33590769 13:33016631-33016631
41 KL NM_004795.4(KL):c.476A>G (p.Asn159Ser)SNV Uncertain significance 311683 rs200218010 13:33591054-33591054 13:33016916-33016916
42 KL NM_004795.4(KL):c.967G>A (p.Val323Ile)SNV Uncertain significance 311689 rs143344388 13:33628051-33628051 13:33053914-33053914
43 KL NM_004795.4(KL):c.1811C>A (p.Pro604His)SNV Uncertain significance 311700 rs751229348 13:33635027-33635027 13:33060890-33060890
44 KL NM_004795.4(KL):c.2572T>A (p.Trp858Arg)SNV Uncertain significance 311704 rs757603569 13:33635788-33635788 13:33061651-33061651
45 KL NM_004795.4(KL):c.2779C>T (p.Leu927Phe)SNV Uncertain significance 311707 rs777126851 13:33638063-33638063 13:33063926-33063926
46 KL NM_004795.4(KL):c.*8C>TSNV Uncertain significance 311710 rs773877611 13:33638331-33638331 13:33064194-33064194
47 KL NM_004795.4(KL):c.*1007T>CSNV Uncertain significance 311722 rs886050124 13:33639330-33639330 13:33065193-33065193
48 KL NM_004795.4(KL):c.*1603C>ASNV Uncertain significance 311729 rs886050128 13:33639926-33639926 13:33065789-33065789
49 GALNT3 NM_004482.4(GALNT3):c.504T>C (p.Thr168=)SNV Uncertain significance 331787 rs183709224 2:166626707-166626707 2:165770197-165770197
50 GALNT3 NM_004482.4(GALNT3):c.493G>A (p.Gly165Arg)SNV Uncertain significance 331788 rs147779149 2:166626718-166626718 2:165770208-165770208

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
12.21 GPC6 GPC5 GPC1 CHSY3
2
Show member pathways
12.16 SHH GPC6 GPC5 GPC1
3
Show member pathways
12.09 SHH SCUBE2 IHH GPC5 DHH
4
Show member pathways
11.71 GPC6 GPC5 GPC1
5 11.52 SLC34A3 KL FGF23
6 11.13 SHH IHH DHH
7
Show member pathways
10.61 SHH IHH DHH
8
Show member pathways
10.08 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 cell surface GO:0009986 9.8 SHH SCUBE2 GPC6 GPC5 GPC1
2 collagen-containing extracellular matrix GO:0062023 9.73 SHH GPC6 GPC5 GPC1
3 extracellular region GO:0005576 9.7 SHH SCUBE2 MMP12 KL IHH GPC6
4 extracellular matrix GO:0031012 9.62 SHH MMP12 IHH GPC1
5 lysosomal lumen GO:0043202 9.54 GPC6 GPC5 GPC1
6 Golgi lumen GO:0005796 9.46 GPC6 GPC5 GPC1 FGF23
7 anchored component of plasma membrane GO:0046658 9.43 GPC6 GPC5 GPC1
8 extracellular space GO:0005615 9.36 SHH SCUBE2 MMP12 KL IHH GPC6

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 10 SHH PHEX MMP12 IHH DHH
2 cell migration GO:0016477 9.87 GPC6 GPC5 GPC1 CD2AP
3 cell-cell signaling GO:0007267 9.84 SHH PHEX IHH DHH
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.75 KL GALNT3 FGF23
5 smoothened signaling pathway GO:0007224 9.69 SHH IHH DHH
6 retinoid metabolic process GO:0001523 9.65 GPC6 GPC5 GPC1
7 embryonic pattern specification GO:0009880 9.61 SHH IHH
8 regulation of signal transduction GO:0009966 9.61 GPC6 GPC5 GPC1
9 embryonic digestive tract morphogenesis GO:0048557 9.6 SHH IHH
10 somite development GO:0061053 9.59 SHH IHH
11 cellular response to vitamin D GO:0071305 9.58 PHEX FGF23
12 glycosaminoglycan biosynthetic process GO:0006024 9.58 GPC6 GPC5 GPC1
13 positive regulation of alpha-beta T cell differentiation GO:0046638 9.56 SHH IHH
14 positive regulation of T cell differentiation in thymus GO:0033089 9.55 SHH IHH
15 cell fate specification GO:0001708 9.54 SHH IHH DHH
16 cellular response to parathyroid hormone stimulus GO:0071374 9.52 PHEX FGF23
17 cellular phosphate ion homeostasis GO:0030643 9.49 SLC34A3 FGF23
18 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.46 KL FGF23
19 glycosaminoglycan catabolic process GO:0006027 9.33 GPC6 GPC5 GPC1
20 response to sodium phosphate GO:1904383 9.32 PHEX FGF23
21 negative regulation of alpha-beta T cell differentiation GO:0046639 9.26 SHH IHH
22 intein-mediated protein splicing GO:0016539 8.96 SHH IHH
23 regulation of protein localization to membrane GO:1905475 8.8 GPC6 GPC5 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 MMP12 IHH DHH
2 calcium ion binding GO:0005509 9.5 SHH SCUBE2 MMP12 IHH GALNT3 FAM20C
3 fibroblast growth factor receptor binding GO:0005104 9.32 KL FGF23
4 fibroblast growth factor binding GO:0017134 9.26 KL GPC1
5 patched binding GO:0005113 8.8 SHH IHH DHH

Sources for Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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68 SNOMED-CT via HPO
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