MCID: TMR012
MIFTS: 15

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:45 610455

Aliases & Classifications for Tumoral Calcinosis, Familial, Normophosphatemic

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Tumoral Calcinosis, Familial, Normophosphatemic, Aliases & Descriptions:

Name: Tumoral Calcinosis, Familial, Normophosphatemic 45 10
Tumoral Calcinosis, Normophosphatemic, Familial 45 60
 
Normophosphatemic Familial Tumoral Calcinosis 41
Nftc 41


Classifications:

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


External Ids:

OMIM45 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
1calcinosis10.7
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:

31
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:

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

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

6
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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet