MCID: FML091
MIFTS: 36

Familial Tumoral Calcinosis malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Cancer diseases

Aliases & Classifications for Familial Tumoral Calcinosis

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Sources:
45NIH Rare Diseases, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Familial Tumoral Calcinosis:

Name: Familial Tumoral Calcinosis 45 51

Characteristics:

Orphanet epidemiological data:

51
familial tumoral calcinosis:
Inheritance: Autosomal recessive,Not applicable; Age of onset: Childhood

Classifications:



External Ids:

Orphanet51 53715
ICD10 via Orphanet28 M11.2
UMLS via Orphanet66 C0263628

Summaries for Familial Tumoral Calcinosis

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MalaCards based summary: Familial Tumoral Calcinosis is related to tumoral calcinosis, hyperphosphatemic, familial and hyperphosphatemic familial tumoral calcinosis, fgf23-related, and has symptoms including chondrocalcinosis, bone pain and hyperphosphatemia. An important gene associated with Familial Tumoral Calcinosis is FGF23 (Fibroblast Growth Factor 23), and among its related pathways are FGFR3 mutant receptor activation and AGE-RAGE signaling pathway in diabetic complications. Affiliated tissues include skin, bone and kidney, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

Related Diseases for Familial Tumoral Calcinosis

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Diseases related to Familial Tumoral Calcinosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1tumoral calcinosis, hyperphosphatemic, familial33.1FGF23, GALNT3, KL
2hyperphosphatemic familial tumoral calcinosis, fgf23-related12.5
3hyperphosphatemic familial tumoral calcinosis, galnt3-related12.5
4hyperphosphatemic familial tumoral calcinosis, kl-related12.5
5tumoral calcinosis, familial, normophosphatemic11.7
6hepatocellular carcinoma10.2
7peroxisome biogenesis disorder 2a10.1FGF23, GALNT3
8distal arthrogryposis10.1FGF23, GALNT3
9leukodystrophy10.1FGF23, GALNT3
10breast cancer10.0
11obesity10.0
12sickle cell anemia10.0
13transaldolase deficiency10.0
14rett syndrome10.0
15end stage renal failure10.0
16malignant glioma10.0
17mycosis fungoides10.0
18polycystic ovary syndrome10.0
19congenital adrenal hyperplasia10.0
20lymphoma10.0
21short bowel syndrome10.0
22interstitial nephritis10.0
23hiatus hernia10.0
24gynecomastia10.0
25hypochondriasis10.0
26uveitis10.0
27porphyria10.0
28lymphangioma10.0
29acute chest syndrome10.0
30neuroaxonal dystrophy10.0
31ovarian cancer10.0
32substance abuse10.0
33churg-strauss syndrome10.0
34ischemia10.0
35cerebritis10.0
36turner syndrome10.0
37retinitis10.0
38myopathy10.0
39cerebral lymphoma10.0
40periodontitis10.0
41peritonitis10.0
42corneal ulcer10.0
43retinal artery occlusion10.0
44fasciitis10.0
45plantar fasciitis10.0
46muscular dystrophy10.0
47congenital porphyria10.0
48glioma10.0
49tricuspid atresia10.0
50cardiogenic shock10.0

Graphical network of the top 20 diseases related to Familial Tumoral Calcinosis:



Diseases related to familial tumoral calcinosis

Symptoms for Familial Tumoral Calcinosis

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Symptoms:

 51 (show all 23)
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • muscle ossification
  • bone pain
  • periarticular tissue anomaly/extraarticular calcifications
  • hyperphosphtemia
  • cutaneous rash
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • hyperostosis
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • autosomal recessive inheritance
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • anomalies of tongue, gingiva and oral mucosa
  • gingivitis
  • palate anomalies
  • anomalies of teeth and dentition
  • hyperhidrosis/increased sweating
  • irregular/patchy skin hypopigmentation
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • abnormal cry/voice/phonation disorder/nasal speech
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • renal/kidney calcifications/nephrocalcinosis
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

HPO human phenotypes related to Familial Tumoral Calcinosis:

(show all 18)
id Description Frequency HPO Source Accession
1 chondrocalcinosis hallmark (90%) HP:0000934
2 bone pain hallmark (90%) HP:0002653
3 hyperphosphatemia hallmark (90%) HP:0002905
4 skin rash typical (50%) HP:0000988
5 osteomyelitis typical (50%) HP:0002754
6 hyperostosis typical (50%) HP:0100774
7 nephrocalcinosis occasional (7.5%) HP:0000121
8 abnormality of the teeth occasional (7.5%) HP:0000164
9 abnormality of the palate occasional (7.5%) HP:0000174
10 gingivitis occasional (7.5%) HP:0000230
11 hyperhidrosis occasional (7.5%) HP:0000975
12 hypopigmented skin patches occasional (7.5%) HP:0001053
13 abnormality of the voice occasional (7.5%) HP:0001608
14 splenomegaly occasional (7.5%) HP:0001744
15 hepatomegaly occasional (7.5%) HP:0002240
16 neoplasm of the skin occasional (7.5%) HP:0008069
17 arteriovenous malformation occasional (7.5%) HP:0100026
18 inflammatory abnormality of the eye occasional (7.5%) HP:0100533

Drugs & Therapeutics for Familial Tumoral Calcinosis

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Drugs for Familial Tumoral Calcinosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sevelamerapproved72152751-57-03085017
Synonyms:
Renagel
Renvela
Sevelamer
Sevelamer Carbonate
 
Sevelamero
Sevelamerum
Sévélamer
sevelamer carbonate
sevelamer hydrochloride
2
Alfacalcidolapproved, nutraceutical4341294-56-85282181
Synonyms:
(5Z,7e)-9,10-Seco-5,7,10(19)-cholestatrien-1alpha,3beta-diol
1-Hydroxycholecalciferol
1-hydroxycholecalciferol
1alpha-Hydroxy-vitamin D3
 
1alpha-hydroxycholecalciferol
1alpha-hydroxyvitamin D3
9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta-diol
Alfacalcidolum
Alsiodol
3Hydroxycholecalciferols92
4Contraceptives, Oral3734
5Bone Density Conservation Agents2600

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluation and Treatment of Skeletal DiseasesRecruitingNCT00024804
2Hypophosphatemic Rickets in NorwayActive, not recruitingNCT01057186

Search NIH Clinical Center for Familial Tumoral Calcinosis

Genetic Tests for Familial Tumoral Calcinosis

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Anatomical Context for Familial Tumoral Calcinosis

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MalaCards organs/tissues related to Familial Tumoral Calcinosis:

33
Skin, Bone, Kidney, Liver, Tongue, Eye, Monocytes

Animal Models for Familial Tumoral Calcinosis or affiliated genes

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MGI Mouse Phenotypes related to Familial Tumoral Calcinosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6FGF23, GALNT3, KL, TNF
2MP:00053818.5FGF23, GALNT3, KL, TNF
3MP:00053888.4EGR1, FGF23, KL, TNF
4MP:00053798.0EGR1, FGF23, GALNT3, KL, TNF
5MP:00107718.0EGR1, FGF23, GALNT3, KL, TNF
6MP:00053897.9EGR1, FGF23, GALNT3, KL, TNF
7MP:00053907.7EGR1, FGF23, GALNT3, KL, TNF
8MP:00053857.6EGR1, FGF23, GALNT3, KL, TNF
9MP:00053977.4EGR1, FGF23, GALNT3, KL, TNF

Publications for Familial Tumoral Calcinosis

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Articles related to Familial Tumoral Calcinosis:

(show all 50)
idTitleAuthorsYear
1
Surgical Treatment of Cavus Foot in Charcot-Marie-Tooth Disease: A Review of Twenty-four Cases: AAOS Exhibit Selection. (25788311)
2015
2
Clinical Importance of Intraoperative Cephalic Vein Distensibility as a Predictor of Radiocephalic Arteriovenous Fistula Maturation. (26507376)
2015
3
Delayed enhancement imaging in a contemporary patient cohort following correction of tetralogy of Fallot. (25382031)
2014
4
Etrolizumab: Anti-I^7-A Novel Therapy for Ulcerative Colitis. (24269566)
2014
5
Cytoplasmic OCT4 staining is a sensitive marker of neuroendocrine differentiation. (24182453)
2014
6
Factors associated with treatment of osteoporosis in Korean postmenopausal women. (24219835)
2013
7
Clinical Application of Glucagon-Like Peptide 1 Receptor Agonists for the Treatment of Type 2 Diabetes Mellitus. (24396690)
2013
8
Wnt ligands signal in a cooperative manner to promote foregut organogenesis. (22949635)
2012
9
Downregulation of stromal BRCA1 drives breast cancer tumor growth via upregulation of HIF-1I+, autophagy and ketone body production. (23047605)
2012
10
Detection of pepsinogen in the neonatal lung and stomach by immunohistochemistry. (21970995)
2011
11
Frontal intra-axial mass lesion in an adult. Invasive aspergillosis. (22066136)
2011
12
Frontal fibrosing alopecia: to treat or not to treat? (20642984)
2010
13
Multidetector computed tomography hepatic findings in children with end-stage biliary atresia. (20016905)
2010
14
IgA anti-actin antibodies in children with celiac disease: comparison of immunofluorescence with Elisa assay in predicting severe intestinal damage. (20298549)
2010
15
Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression. (20044292)
2010
16
E2F4 expression is required for cell cycle progression of normal intestinal crypt cells and colorectal cancer cells. (19562678)
2009
17
Infantile facial palsy with exposure keratitis. (19791733)
2009
18
Childhood lichen planus pemphigoides: a case report and review of the literature. (19840313)
2009
19
Association of mannose-binding lectin gene polymorphisms with Kawasaki disease in the Japanese. (20374367)
2009
20
Self-termination of the terminator. (19008929)
2008
21
Analysis of curative effects on laryngeal carcinoma patients in the northeast region of China. (18421614)
2008
22
A randomised controlled trial of high-dose isoniazid adjuvant therapy for multidrug-resistant tuberculosis. (18230245)
2008
23
High expression of Toll-like receptor 4 on CD14+ monocytes in acute infectious diseases. (17577821)
2007
24
The sperm agglutination antigen-1 (SAGA-1) glycoforms of CD52 are O-glycosylated. (17640971)
2007
25
Molecular cloning, characterization and expression analysis of an ILF2 homologue from Tetraodon nigroviridis. (17129403)
2006
26
Polymyositis associated with infliximab treatment for rheumatoid arthritis. (17165006)
2006
27
Differential gene expression between juvenile and adult dura mater: a window into what genes play a role in the regeneration of membranous bone. (16980845)
2006
28
The 196G/A (val66met) polymorphism of the BDNF gene is significantly associated with binge eating behavior in women with bulimia nervosa or binge eating disorder. (16901635)
2006
29
Chemotherapeutic agents that induce mitochondrial apoptosis. (15578915)
2004
30
Pathophysiology of coronary thrombosis: role of plaque rupture and plaque erosion. (12024334)
2002
31
Alteration of chemoattractant receptor expression regulates human neutrophil chemotaxis in vivo. (11923612)
2002
32
cAMP-dependent protein kinase mediates activity-regulated synaptic targeting of NMDA receptors. (11438583)
2001
33
The 8-kDa dynein light chain binds to its targets via a conserved (K/R)XTQT motif. (11148209)
2001
34
Enhancement of BCG-induced hBD-1 mRNA expression in human pulmonary gland epithelial cells]. (12545809)
2000
35
Recurrence of a "primary frozen shoulder": a case report. (10717864)
2000
36
Characterization of a cDNA encoding a novel human Golgi alpha 1,2- mannosidase involved in N-glycan biosynthesis. (10915796)
2000
37
Periacetabular osteotomy in the treatment of neurogenic acetabular dysplasia. (10615968)
1999
38
Multistep regulation of DNA replication by Cdk phosphorylation of HsCdc6. (10339564)
1999
39
Inducible expression of nuclear factor IL-6 increases endogenous gene expression of macrophage inflammatory protein-1 alpha, osteopontin and CD14 in a monocytic leukemia cell line. (9885903)
1998
40
Homologous pigmentation mutations in human, mouse and other model organisms. (9300652)
1997
41
Immune evasion properties of herpes simplex virus type 1 glycoprotein gC. (8676446)
1996
42
Ha-ras rare alleles in breast cancer susceptibility. (7612910)
1995
43
Construction of an SH2 domain-binding site with mixed specificity. (7876130)
1995
44
Asymmetric periflexural exanthem of childhood: report of two new cases. (8170849)
1994
45
Characterization of human purified epithelial and stromal cells from endometrium and endometriosis in tissue culture. (1374045)
1992
46
Identification of lamin B and histones as 1,25-dihydroxyvitamin D3-regulated nuclear phosphoproteins in HL-60 cells. (1559989)
1992
47
Purification of the secretor-type beta-galactoside alpha 1----2-fucosyltransferase from human serum. (1733969)
1992
48
Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels. (1570833)
1992
49
Prognostic significance of secondary cytogenetic changes and nonspecific cross-reacting antigen (NCA) in patients with Ph-positive chronic myeloid leukemia. (2332039)
1990
50
Lithium treatment of a patient with Addison's disease and affective psychosis. (2717662)
1989

Variations for Familial Tumoral Calcinosis

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Expression for genes affiliated with Familial Tumoral Calcinosis

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Search GEO for disease gene expression data for Familial Tumoral Calcinosis.

Pathways for genes affiliated with Familial Tumoral Calcinosis

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GO Terms for genes affiliated with Familial Tumoral Calcinosis

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-mediated signalingGO:00480159.9FGF23, KL
2positive regulation of transcription, DNA-templatedGO:00458938.7EGR1, FGF23, TNF

Sources for Familial Tumoral Calcinosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet