MCID: TMR012
MIFTS: 20

Tumoral Calcinosis, Familial, Normophosphatemic malady

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

Aliases & Classifications for Tumoral Calcinosis, Familial, Normophosphatemic

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Aliases & Descriptions for Tumoral Calcinosis, Familial, Normophosphatemic:

Name: Tumoral Calcinosis, Familial, Normophosphatemic 49 11
Tumoral Calcinosis, Normophosphatemic, Familial 67 24 65
Nftc 45 67
 
Familial Normophosphatemic Tumoral Calcinosis 51
Normophosphatemic Familial Tumoral Calcinosis 45
Tumoral Calcinosis with Normophosphatemia 67

Characteristics:

HPO:

61
tumoral calcinosis, familial, normophosphatemic:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 610455
Orphanet51 306658
ICD10 via Orphanet28 M11.2
MedGen34 C1864861
MeSH36 D002114
UMLS65 C1864861

Summaries for Tumoral Calcinosis, Familial, Normophosphatemic

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UniProtKB/Swiss-Prot:67 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 substance abuse and myopathy, 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). Affiliated tissues include skin and bone.

Description from OMIM:49 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
1substance abuse10.4
2myopathy10.4
3fasciitis10.4
4plantar fasciitis10.4
5muscular dystrophy10.4

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



Diseases related to tumoral calcinosis, familial, normophosphatemic

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 gingivitis HP:0000230
2 conjunctivitis HP:0000509
3 abnormality of the skin HP:0000951
4 calcinosis 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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Anatomical Context for Tumoral Calcinosis, Familial, Normophosphatemic

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

33
Skin, Bone

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:

67
id Symbol AA change Variation ID SNP ID
1SAMD9p.Lys1495GluVAR_031529

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

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Sources for Tumoral Calcinosis, Familial, Normophosphatemic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet