MCID: TMR012
MIFTS: 17

Tumoral Calcinosis, Familial, Normophosphatemic malady

Genetic diseases, Rare diseases, Cancer diseases categories

Summaries for Tumoral Calcinosis, Familial, Normophosphatemic

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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 autosomal recessive inheritance, gingivitis and conjunctivitis. An important gene associated with Tumoral Calcinosis, Familial, Normophosphatemic is SAMD9 (sterile alpha motif domain containing 9). Affiliated tissues include skin.

Description from OMIM:47 610455

Aliases & Classifications for Tumoral Calcinosis, Familial, Normophosphatemic

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Tumoral Calcinosis, Familial, Normophosphatemic, Aliases & Descriptions:

Name: Tumoral Calcinosis, Familial, Normophosphatemic 47 11
Tumoral Calcinosis, Normophosphatemic, Familial 47
 
Normophosphatemic Familial Tumoral Calcinosis 43
Nftc 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases


External Ids:

OMIM47 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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1calcinosis10.7
2familial tumoral calcinosis10.7

Symptoms for Tumoral Calcinosis, Familial, Normophosphatemic

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Symptoms by clinical synopsis from OMIM:

610455

Clinical features from OMIM:

610455

HPO human phenotypes related to Tumoral Calcinosis, Familial, Normophosphatemic:

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 Tumoral Calcinosis, Familial, Normophosphatemic

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Drug clinical trials:

Search ClinicalTrials for Tumoral Calcinosis, Familial, Normophosphatemic

Search NIH Clinical Center for Tumoral Calcinosis, Familial, Normophosphatemic

Genetic Tests for Tumoral Calcinosis, Familial, Normophosphatemic

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Anatomical Context for Tumoral Calcinosis, Familial, Normophosphatemic

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

33
Skin

Animal Models for Tumoral Calcinosis, Familial, Normophosphatemic or affiliated genes

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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:

64
id Symbol AA change Variation ID SNP ID
1SAMD9p.Lys1495GluVAR_031529

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

7
id Gene Variation 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 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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Compounds 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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Products for genes affiliated with Tumoral Calcinosis, Familial, Normophosphatemic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Tumoral Calcinosis, Familial, Normophosphatemic

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet