MCID: TMR012
MIFTS: 19

Tumoral Calcinosis, Familial, Normophosphatemic malady

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

Aliases & Classifications for Tumoral Calcinosis, Familial, Normophosphatemic

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Aliases & Descriptions for Tumoral Calcinosis, Familial, Normophosphatemic:

Name: Tumoral Calcinosis, Familial, Normophosphatemic 50 12
Tumoral Calcinosis, Normophosphatemic, Familial 50 68 66
Familial Normophosphatemic Tumoral Calcinosis 52 25
 
Nftc 46 68
Normophosphatemic Familial Tumoral Calcinosis 46
Tumoral Calcinosis with Normophosphatemia 68

Characteristics:

Orphanet epidemiological data:

52
familial normophosphatemic tumoral calcinosis:
Inheritance: Autosomal recessive

HPO:

62
tumoral calcinosis, familial, normophosphatemic:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 610455
Orphanet52 ORPHA306658
ICD10 via Orphanet29 M11.2
MedGen35 C1864861
MeSH37 D002114

Summaries for Tumoral Calcinosis, Familial, Normophosphatemic

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UniProtKB/Swiss-Prot:68 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). Affiliated tissues include skin and bone.

Description from OMIM:50 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
1calcinosis10.4
2familial tumoral calcinosis10.4

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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Genetic tests related to Tumoral Calcinosis, Familial, Normophosphatemic:

id Genetic test Affiliating Genes
1 Tumoral Calcinosis, Familial, Normophosphatemic25

Anatomical Context for Tumoral Calcinosis, Familial, Normophosphatemic

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

34
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:

68
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)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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet