NFTC
MCID: NRM010
MIFTS: 30

Normophosphatemic Familial Tumoral Calcinosis (NFTC) malady

Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Cancer diseases categories
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Summaries for Normophosphatemic Familial Tumoral Calcinosis

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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:47 610455

Aliases & Classifications for Normophosphatemic Familial Tumoral Calcinosis

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43NIH Rare Diseases, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:



Aliases & Descriptions:

normophosphatemic familial tumoral calcinosis 43
tumoral calcinosis, familial, normophosphatemic 47
tumoral calcinosis, normophosphatemic, familial 62
normocalcemic tumoral calcinosis 49
nftc 43


External Ids:

OMIM47 610455
ICD10 via Orphanet26 M11.2

Related Diseases for Normophosphatemic Familial Tumoral Calcinosis

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

Symptoms for Normophosphatemic Familial Tumoral Calcinosis

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47OMIM
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Normophosphatemic Familial Tumoral Calcinosis

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Normophosphatemic Familial Tumoral Calcinosis:

33
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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52PubMed
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Normophosphatemic Familial Tumoral Calcinosis:

64
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, 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

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50PathCards, 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
19.6EGR1, TNF
2
Show member pathways
Calcium signaling in the CD4+ TCR pathway38
9.6EGR1, TNF
3
Show member pathways
Ras signaling in the CD4+ TCR pathway38
9.6EGR1, TNF

Compounds for genes affiliated with Normophosphatemic Familial Tumoral Calcinosis

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45Novoseek, 61Tocris Bioscience, 11DrugBank
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Compounds related to Normophosphatemic Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tpck459.7EGR1, TNF
2l-nmma459.6EGR1, TNF
3manganese superoxide459.6EGR1, TNF
4sp 60012545 6110.6EGR1, TNF
515-deoxy-delta-12,14-prostaglandin j2459.5TNF, EGR1
6anisomycin45 1110.3EGR1, TNF

GO Terms for genes affiliated with Normophosphatemic Familial Tumoral Calcinosis

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Normophosphatemic Familial Tumoral Calcinosis

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet