MCID: TMR012
MIFTS: 29

Tumoral Calcinosis, Familial, Normophosphatemic

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

Aliases & Classifications for Tumoral Calcinosis, Familial, Normophosphatemic

MalaCards integrated aliases for Tumoral Calcinosis, Familial, Normophosphatemic:

Name: Tumoral Calcinosis, Familial, Normophosphatemic 54 29 13
Normophosphatemic Familial Tumoral Calcinosis 12 50 14
Tumoral Calcinosis, Normophosphatemic, Familial 71 69
Nftc 50 71
Familial Normophosphatemic Tumoral Calcinosis 56
Tumoral Calcinosis with Normophosphatemia 71

Characteristics:

Orphanet epidemiological data:

56
familial normophosphatemic tumoral calcinosis
Inheritance: Autosomal recessive;

OMIM:

54
Miscellaneous:
present in jewish yemenite population

Inheritance:
autosomal recessive


HPO:

32
tumoral calcinosis, familial, normophosphatemic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 610455
Disease Ontology 12 DOID:0080170
Orphanet 56 ORPHA306658
UMLS via Orphanet 70 C1864861
ICD10 via Orphanet 34 M11.2
MedGen 40 C1864861
MeSH 42 D002114

Summaries for Tumoral Calcinosis, Familial, Normophosphatemic

UniProtKB/Swiss-Prot : 71 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 normophosphatemic familial tumoral calcinosis, is related to calcinosis and familial tumoral calcinosis, and has symptoms including gingivitis, conjunctivitis and calcinosis. An important gene associated with Tumoral Calcinosis, Familial, Normophosphatemic is SAMD9 (Sterile Alpha Motif Domain Containing 9), and among its related pathways/superpathways are Glucocorticoid receptor regulatory network and Calcineurin-regulated NFAT-dependent transcription in lymphocytes. Affiliated tissues include skin and bone.

Disease Ontology : 12 A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors.

Wikipedia : 72 Normophosphatemic familial tumoral calcinosis is a cutaneous disorder characterized by cutaneous... more...

Description from OMIM: 610455

Related Diseases for Tumoral Calcinosis, Familial, Normophosphatemic

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

id Related Disease Score Top Affiliating Genes
1 calcinosis 10.3
2 familial tumoral calcinosis 10.3
3 diabetes mellitus, insulin-dependent, 12 9.5 CALCA IFNG
4 seminal vesicle chronic gonorrhea 9.4 CALCA GALNT3
5 astrakhan spotted fever 9.3 CALCA GALNT3
6 cloacogenic carcinoma 9.2 CALCA IFNG
7 fatal infantile encephalomyopathy 8.7 EGR1 GALNT3 RGL2 SAMD9 SAMD9L
8 childhood absence epilepsy 8.3 CALCA GALNT3 RGL2 SAMD9 SAMD9L
9 mirage syndrome 6.9 CALCA EGR1 GALNT3 IFNG RGL2 RREB1

Graphical network of the top 20 diseases related to Tumoral Calcinosis, Familial, Normophosphatemic:



Diseases related to Tumoral Calcinosis, Familial, Normophosphatemic

Symptoms & Phenotypes for Tumoral Calcinosis, Familial, Normophosphatemic

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
normal serum phosphate

Skin Nails & Hair- Skin:
calcified, ulcerating nodules
erythematous papular skin eruption (infancy)

Head And Neck- Eyes:
conjunctivitis

Skin Nails & Hair- Skin Histology:
massive calcium deposition in mid- and lower dermis

Head And Neck- Mouth:
gingivitis


Clinical features from OMIM:

610455

Human phenotypes related to Tumoral Calcinosis, Familial, Normophosphatemic:

32
id Description HPO Frequency HPO Source Accession
1 gingivitis 32 HP:0000230
2 conjunctivitis 32 HP:0000509
3 calcinosis 32 HP:0003761
4 abnormality of the skin 32 HP:0000951

Drugs & Therapeutics for Tumoral Calcinosis, Familial, Normophosphatemic

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

Genetic Tests for Tumoral Calcinosis, Familial, Normophosphatemic

Genetic tests related to Tumoral Calcinosis, Familial, Normophosphatemic:

id Genetic test Affiliating Genes
1 Tumoral Calcinosis, Familial, Normophosphatemic 29

Anatomical Context for Tumoral Calcinosis, Familial, Normophosphatemic

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

39
Skin, Bone

Publications for Tumoral Calcinosis, Familial, Normophosphatemic

Variations for Tumoral Calcinosis, Familial, Normophosphatemic

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

71
id Symbol AA change Variation ID SNP ID
1 SAMD9 p.Lys1495Glu VAR_031529 rs121918554

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SAMD9 NM_017654.3(SAMD9): c.4483A> G (p.Lys1495Glu) single nucleotide variant Pathogenic rs121918554 GRCh37 Chromosome 7, 92730928: 92730928

Expression for Tumoral Calcinosis, Familial, Normophosphatemic

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

Pathways for Tumoral Calcinosis, Familial, Normophosphatemic

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

id Super pathways Score Top Affiliating Genes
1 11.17 EGR1 IFNG
2
Show member pathways
11.04 EGR1 IFNG
3
Show member pathways
10.74 EGR1 IFNG
4 10.28 CALCA IFNG

GO Terms for Tumoral Calcinosis, Familial, Normophosphatemic

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.5 CALCA IFNG RREB1
2 Ras protein signal transduction GO:0007265 9.26 RGL2 RREB1
3 positive regulation of epithelial cell migration GO:0010634 9.16 IFNG RREB1
4 positive regulation of chemokine biosynthetic process GO:0045080 8.96 EGR1 IFNG
5 endosomal vesicle fusion GO:0034058 8.62 SAMD9 SAMD9L

Sources for Tumoral Calcinosis, Familial, Normophosphatemic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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