NFTC
MCID: NRM010
MIFTS: 27

Normophosphatemic Familial Tumoral Calcinosis (NFTC) malady

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

Summaries for Normophosphatemic Familial Tumoral Calcinosis

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 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. Affiliated tissues include skin.

Description from OMIM:46 610455

Aliases & Classifications for Normophosphatemic Familial Tumoral Calcinosis

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Sources:
42NIH Rare Diseases, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

normophosphatemic familial tumoral calcinosis 42
tumoral calcinosis, familial, normophosphatemic 46
tumoral calcinosis, normophosphatemic, familial 60
normocalcemic tumoral calcinosis 48
nftc 42


External Ids:

OMIM46 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
1calcinosis30.9GALNT3, SAMD9
2familial tumoral calcinosis10.4
3malignant glioma10.0EGR1
4silicosis10.0EGR1

Clinical Features for Normophosphatemic Familial Tumoral Calcinosis

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46OMIM
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Clinical features from OMIM:

610455

Clinical synopsis from OMIM:

610455

Drugs & Therapeutics for Normophosphatemic Familial Tumoral Calcinosis

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Normophosphatemic Familial Tumoral Calcinosis

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32MalaCards
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MalaCards organs/tissues related to Normophosphatemic Familial Tumoral Calcinosis:

32
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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Genetic Variations for Normophosphatemic Familial Tumoral Calcinosis

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Normophosphatemic Familial Tumoral Calcinosis:

62
id Symbol AA change Variation ID SNP ID
1SAMD9p.Lys1495GluVAR_031529

Expression for genes affiliated with Normophosphatemic Familial Tumoral Calcinosis

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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

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37NCBI 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
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9.6EGR1, TNF
29.6EGR1, TNF

Compounds for genes affiliated with Normophosphatemic Familial Tumoral Calcinosis

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44Novoseek
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Compounds related to Normophosphatemic Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tpck449.6EGR1, TNF
215-deoxy-delta-12,14-prostaglandin j2449.6EGR1, TNF
3l-nmma449.5EGR1, TNF
4manganese superoxide449.3EGR1, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet