NFTC
MCID: NRM010
MIFTS: 30

Normophosphatemic Familial Tumoral Calcinosis (NFTC) malady

Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Cancer diseases categories

Summaries for Normophosphatemic Familial Tumoral Calcinosis

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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 calcinosis and familial tumoral calcinosis. An important gene associated with Normophosphatemic Familial Tumoral Calcinosis is SAMD9 (sterile alpha motif domain containing 9), and among its related pathways are Spinal Cord Injury and Calcineurin-regulated NFAT-dependent transcription in lymphocytes. The compounds tpck and l-nmma have been mentioned in the context of this disorder. Affiliated tissues include skin.

Description from OMIM:48 610455

Aliases & Classifications for Normophosphatemic Familial Tumoral Calcinosis

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44NIH Rare Diseases, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Aliases & Descriptions:

normophosphatemic familial tumoral calcinosis 44
tumoral calcinosis, familial, normophosphatemic 48
tumoral calcinosis, normophosphatemic, familial 63
normocalcemic tumoral calcinosis 50
nftc 44


External Ids:

OMIM48 610455
ICD10 via Orphanet27 M11.2

Related Diseases for Normophosphatemic Familial Tumoral Calcinosis

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18GeneCards, 19GeneDecks
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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
1calcinosis31.0GALNT3, SAMD9
2familial tumoral calcinosis10.7
3monocytic leukemia10.0EGR1, TNF

Symptoms for Normophosphatemic Familial Tumoral Calcinosis

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48OMIM
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Symptoms by clinical synopsis from OMIM:

610455

Clinical features from OMIM:

610455

Drugs & Therapeutics for Normophosphatemic Familial Tumoral Calcinosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Normophosphatemic Familial Tumoral Calcinosis

Search CenterWatch for Normophosphatemic Familial Tumoral Calcinosis

Genetic Tests for Normophosphatemic Familial Tumoral Calcinosis

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Anatomical Context for Normophosphatemic Familial Tumoral Calcinosis

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34MalaCards
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MalaCards organs/tissues related to Normophosphatemic Familial Tumoral Calcinosis:

34
Skin

Animal Models for Normophosphatemic Familial Tumoral Calcinosis or affiliated genes

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Publications for Normophosphatemic Familial Tumoral Calcinosis

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53PubMed
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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

Variations for Normophosphatemic Familial Tumoral Calcinosis

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Normophosphatemic Familial Tumoral Calcinosis:

65
id Symbol AA change Variation ID SNP ID
1SAMD9p.Lys1495GluVAR_031529

Clinvar genetic disease variations for Normophosphatemic Familial Tumoral Calcinosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1SAMD9NM_017654.3(SAMD9): c.4483A> G (p.Lys1495Glu)single nucleotide variantPathogenicrs121918554GRCh37Chr 7, 92730928: 92730928

Expression for genes affiliated with Normophosphatemic Familial Tumoral Calcinosis

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2BioGPS, 16Gene 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

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51PathCards, 39NCBI 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
19.6EGR1, TNF
2
Show member pathways
Calcium signaling in the CD4+ TCR pathway39
9.6EGR1, TNF
3
Show member pathways
Ras signaling in the CD4+ TCR pathway39
9.6EGR1, TNF

Compounds for genes affiliated with Normophosphatemic Familial Tumoral Calcinosis

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46Novoseek, 62Tocris Bioscience, 12DrugBank
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Compounds related to Normophosphatemic Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tpck469.7EGR1, TNF
2l-nmma469.6EGR1, TNF
3manganese superoxide469.6EGR1, TNF
4sp 60012546 6210.6EGR1, TNF
515-deoxy-delta-12,14-prostaglandin j2469.5TNF, EGR1
6anisomycin46 1210.3EGR1, TNF

GO Terms for genes affiliated with Normophosphatemic Familial Tumoral Calcinosis

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17Gene 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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Normophosphatemic Familial Tumoral Calcinosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet