NFTC
MCID: NRM010
MIFTS: 21

Normophosphatemic Familial Tumoral Calcinosis (NFTC) malady

Skin, Endocrine, Cancer, Genetic categories

Summaries for Normophosphatemic Familial Tumoral Calcinosis

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Normophosphatemic familial tumoral calcinosis is a cutaneous disorder characterized by cutaneous... more...

MalaCards: Normophosphatemic Familial Tumoral Calcinosis, also known as tumoral calcinosis, familial, normophosphatemic, is related to familial tumoral calcinosis and malignant glioma. An important gene associated with Normophosphatemic Familial Tumoral Calcinosis is SAMD9 (sterile alpha motif domain containing 9), and among its related pathways are Calcium signaling in the CD4+ TCR pathway and Downstream signaling in naive CD8+ T cells. The compounds tpck and 15-deoxy-delta-12,14-prostaglandin j2 have been mentioned in the context of this disorder.

Description from OMIM:47 610455

Aliases & Classifications for Normophosphatemic Familial Tumoral Calcinosis

Sources:
43NIH Rare Diseases, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer, Genetic
Anatomical: Skin, Endocrine


Aliases & Descriptions:

normophosphatemic familial tumoral calcinosis 43
tumoral calcinosis, familial, normophosphatemic 47
tumoral calcinosis, normophosphatemic, familial 61
normocalcemic tumoral calcinosis 49
nftc 43


External Ids:

OMIM47 610455
ICD10 via Orphanet26 M11.2

Related Diseases for Normophosphatemic Familial Tumoral Calcinosis

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Normophosphatemic Familial Tumoral Calcinosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1familial tumoral calcinosis10.7
2malignant glioma10.0EGR1
3silicosis10.0EGR1
4calcinosis10.0GALNT3, SAMD9

Clinical Features for Normophosphatemic Familial Tumoral Calcinosis

Sources:
47OMIM
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Clinical features from OMIM:

610455

Clinical synopsis from OMIM:

610455

Drugs & Therapeutics for Normophosphatemic Familial Tumoral Calcinosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Normophosphatemic Familial Tumoral Calcinosis

Drug clinical trials:

Search ClinicalTrials for Normophosphatemic Familial Tumoral Calcinosis

Search NIH Clinical Center for Normophosphatemic Familial Tumoral Calcinosis

Search CenterWatch for Normophosphatemic Familial Tumoral Calcinosis

Genetic Tests for Normophosphatemic Familial Tumoral Calcinosis

Anatomical Context for Normophosphatemic Familial Tumoral Calcinosis

Animal Models for Normophosphatemic Familial Tumoral Calcinosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Normophosphatemic Familial Tumoral Calcinosis

Sources:
51PubMed
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Articles related to Normophosphatemic Familial Tumoral Calcinosis:

idTitleAuthorsYear
1
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. (21160498)
2011
2
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. (18094730)
2008
3
SAMD9 mutation in normophosphatemic familial tumoral calcinosis]. (17507861)
2007
4
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. (16960814)
2006

Genetic Variations for Normophosphatemic Familial Tumoral Calcinosis

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Normophosphatemic Familial Tumoral Calcinosis:

63
id Symbol AA change Variation SNP ID
1SAMD9p.Lys1495GluVAR_031529

Expression for genes affiliated with Normophosphatemic Familial Tumoral Calcinosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Normophosphatemic Familial Tumoral Calcinosis

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

Pathways for genes affiliated with Normophosphatemic Familial Tumoral Calcinosis

Sources:
38NCBI BioSystems Database
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Pathways related to Normophosphatemic Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6EGR1, TNF
29.6EGR1, TNF

Compounds for genes affiliated with Normophosphatemic Familial Tumoral Calcinosis

Sources:
45Novoseek
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Compounds related to Normophosphatemic Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tpck459.6EGR1, TNF
215-deoxy-delta-12,14-prostaglandin j2459.6EGR1, TNF
3l-nmma459.5EGR1, TNF
4manganese superoxide459.3EGR1, TNF

GO Terms for genes affiliated with Normophosphatemic Familial Tumoral Calcinosis

Sources:
16Gene Ontology
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Biological processes related to Normophosphatemic Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of neuron apoptotic processGO:0435259.6EGR1, TNF

Products for genes affiliated with Normophosphatemic Familial Tumoral Calcinosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Normophosphatemic Familial Tumoral Calcinosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet