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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Wikipedia:65 Normophosphatemic familial tumoral calcinosis is a cutaneous disorder characterized by cutaneous... more...

MalaCards based summary: Normophosphatemic Familial Tumoral Calcinosis, also known as tumoral calcinosis, familial, normophosphatemic, is related to calcinosis and familial tumoral calcinosis, and has symptoms including 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:46 610455

Aliases & Classifications for Normophosphatemic Familial Tumoral Calcinosis

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Sources:
42NIH Rare Diseases, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Normophosphatemic Familial Tumoral Calcinosis, Aliases & Descriptions:

Name: Normophosphatemic Familial Tumoral Calcinosis 42
Tumoral Calcinosis, Familial, Normophosphatemic 46
Tumoral Calcinosis, Normophosphatemic, Familial 62
 
Normocalcemic Tumoral Calcinosis 48
Nftc 42


Classifications:



External Ids:

OMIM46 610455
ICD10 via Orphanet26 M11.2

Related Diseases for Normophosphatemic Familial Tumoral Calcinosis

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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 calcinosis10.8
3monocytic leukemia9.9EGR1, TNF

Symptoms for Normophosphatemic Familial Tumoral Calcinosis

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Symptoms by clinical synopsis from OMIM:

610455

Clinical features from OMIM:

610455

HPO human phenotypes related to Normophosphatemic Familial Tumoral Calcinosis:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 gingivitis HP:0000230
3 conjunctivitis HP:0000509
4 abnormality of the skin HP:0000951

Drugs & Therapeutics for Normophosphatemic Familial Tumoral Calcinosis

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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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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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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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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:

6
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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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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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 pathway37
9.6EGR1, TNF
3
Show member pathways
Ras signaling in the CD4+ TCR pathway37
9.6EGR1, TNF

Compounds for genes affiliated with Normophosphatemic Familial Tumoral Calcinosis

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

idCompoundScoreTop Affiliating Genes
1tpck449.7TNF, EGR1
2l-nmma449.6EGR1, TNF
3manganese superoxide449.6TNF, EGR1
4sp 60012544 6110.6TNF, EGR1
515-deoxy-delta-12,14-prostaglandin j2449.5EGR1, TNF
6anisomycin44 1110.3TNF, EGR1

GO Terms for genes affiliated with Normophosphatemic Familial Tumoral Calcinosis

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet