NFTC
MCID: TMR012
MIFTS: 29

Tumoral Calcinosis, Familial, Normophosphatemic (NFTC) malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Metabolic diseases

Aliases & Classifications for Tumoral Calcinosis, Familial, Normophosphatemic

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Aliases & Descriptions for Tumoral Calcinosis, Familial, Normophosphatemic:

Name: Tumoral Calcinosis, Familial, Normophosphatemic 52 12
Tumoral Calcinosis, Normophosphatemic, Familial 52 70 68
Normophosphatemic Familial Tumoral Calcinosis 11 48 13
 
Familial Normophosphatemic Tumoral Calcinosis 54 27
Nftc 48 70
Tumoral Calcinosis with Normophosphatemia 70

Characteristics:

Orphanet epidemiological data:

54
familial normophosphatemic tumoral calcinosis:
Inheritance: Autosomal recessive

HPO:

64
tumoral calcinosis, familial, normophosphatemic:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 610455
Disease Ontology11 DOID:0080170
Orphanet54 ORPHA306658
ICD10 via Orphanet31 M11.2
MedGen37 C1864861
MeSH39 D002114

Summaries for Tumoral Calcinosis, Familial, Normophosphatemic

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UniProtKB/Swiss-Prot:70 Tumoral calcinosis, normophosphatemic, familial: An uncommon, life-threatening disorder characterized by progressive deposition of calcified masses in cutaneous and subcutaneous tissues. Serum phosphate levels are normal. Clinical features include painful calcified ulcerative lesions and massive calcium deposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in which tissue calcification occurs as a consequence of tissue injury/inflammation.

MalaCards based summary: Tumoral Calcinosis, Familial, Normophosphatemic, also known as tumoral calcinosis, normophosphatemic, familial, is related to calcinosis and familial tumoral calcinosis, and has symptoms including gingivitis, conjunctivitis and abnormality of the skin. An important gene associated with Tumoral Calcinosis, Familial, Normophosphatemic is SAMD9 (Sterile Alpha Motif Domain Containing 9), and among its related pathways are Glucocorticoid receptor regulatory network and Calcineurin-regulated NFAT-dependent transcription in lymphocytes. Affiliated tissues include skin and bone.

Disease Ontology:11 A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors.

Wikipedia:71 Normophosphatemic familial tumoral calcinosis is a cutaneous disorder characterized by cutaneous... more...

Description from OMIM:52 610455

Related Diseases for Tumoral Calcinosis, Familial, Normophosphatemic

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Diseases related to Tumoral Calcinosis, Familial, Normophosphatemic via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1calcinosis10.3
2familial tumoral calcinosis10.3
3pyoderma gangrenosum10.0EGR1, IFNG
4senile reticular retinal degeneration9.8CALCA, IFNG
5gonococcal seminal vesiculitis9.8CALCA, GALNT3
6indian tick typhus9.8CALCA, GALNT3
7autoimmune hemolytic anemia9.7CALCA, IFNG
8childhood absence epilepsy9.5CALCA, GALNT3, RGL2, SAMD9
9feigenbaum bergeron richardson syndrome9.5EGR1, GALNT3, RGL2, SAMD9, SAMD9L
10long qt syndrome-118.8CALCA, EGR1, GALNT3, IFNG, RGL2, RREB1

Graphical network of diseases related to Tumoral Calcinosis, Familial, Normophosphatemic:



Diseases related to tumoral calcinosis, familial, normophosphatemic

Symptoms & Phenotypes for Tumoral Calcinosis, Familial, Normophosphatemic

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Symptoms by clinical synopsis from OMIM:

610455

Clinical features from OMIM:

610455

Human phenotypes related to Tumoral Calcinosis, Familial, Normophosphatemic:

 64
id Description HPO Frequency HPO Source Accession
1 gingivitis64 HP:0000230
2 conjunctivitis64 HP:0000509
3 abnormality of the skin64 HP:0000951
4 calcinosis64 HP:0003761

Drugs & Therapeutics for Tumoral Calcinosis, Familial, Normophosphatemic

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Tumoral Calcinosis, Familial, Normophosphatemic

Genetic Tests for Tumoral Calcinosis, Familial, Normophosphatemic

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Genetic tests related to Tumoral Calcinosis, Familial, Normophosphatemic:

id Genetic test Affiliating Genes
1 Tumoral Calcinosis, Familial, Normophosphatemic27

Anatomical Context for Tumoral Calcinosis, Familial, Normophosphatemic

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

36
Skin, Bone

Publications for Tumoral Calcinosis, Familial, Normophosphatemic

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Variations for Tumoral Calcinosis, Familial, Normophosphatemic

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UniProtKB/Swiss-Prot genetic disease variations for Tumoral Calcinosis, Familial, Normophosphatemic:

70
id Symbol AA change Variation ID SNP ID
1SAMD9p.Lys1495GluVAR_031529rs121918554

Clinvar genetic disease variations for Tumoral Calcinosis, Familial, Normophosphatemic:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SAMD9NM_ 017654.3(SAMD9): c.4483A> G (p.Lys1495Glu)SNVPathogenicrs121918554GRCh37Chr 7, 92730928: 92730928

Expression for genes affiliated with Tumoral Calcinosis, Familial, Normophosphatemic

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

Pathways for genes affiliated with Tumoral Calcinosis, Familial, Normophosphatemic

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GO Terms for genes affiliated with Tumoral Calcinosis, Familial, Normophosphatemic

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Biological processes related to Tumoral Calcinosis, Familial, Normophosphatemic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endosomal vesicle fusionGO:003405810.4SAMD9, SAMD9L
2positive regulation of epithelial cell migrationGO:001063410.0IFNG, RREB1
3positive regulation of chemokine biosynthetic processGO:004508010.0EGR1, IFNG
4Ras protein signal transductionGO:00072659.6RGL2, RREB1
5negative regulation of transcription, DNA-templatedGO:00458929.2CALCA, IFNG, RREB1

Sources for Tumoral Calcinosis, Familial, Normophosphatemic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet