MCID: TMR017
MIFTS: 34

Tumoral Calcinosis, Normophosphatemic, Familial

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

Aliases & Classifications for Tumoral Calcinosis, Normophosphatemic, Familial

MalaCards integrated aliases for Tumoral Calcinosis, Normophosphatemic, Familial:

Name: Tumoral Calcinosis, Normophosphatemic, Familial 57 75 73
Tumoral Calcinosis, Familial, Normophosphatemic 57 29 13 6 40
Normophosphatemic Familial Tumoral Calcinosis 12 53 15
Nftc 57 53 75
Familial Normophosphatemic Tumoral Calcinosis 59
Calcinosis, Tumoral, with Normophosphatemia 57
Tumoral Calcinosis with Normophosphatemia 75

Characteristics:

Orphanet epidemiological data:

59
familial normophosphatemic tumoral calcinosis
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
present in jewish yemenite population


HPO:

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


Classifications:



External Ids:

OMIM 57 610455
Disease Ontology 12 DOID:0080170
Orphanet 59 ORPHA306658
ICD10 via Orphanet 34 M11.2
UMLS via Orphanet 74 C1864861
MedGen 42 C1864861
MeSH 44 D002114
UMLS 73 C1864861

Summaries for Tumoral Calcinosis, Normophosphatemic, Familial

UniProtKB/Swiss-Prot : 75 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, Normophosphatemic, Familial, also known as tumoral calcinosis, familial, normophosphatemic, is related to familial tumoral calcinosis and septic arthritis. An important gene associated with Tumoral Calcinosis, Normophosphatemic, Familial 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, and related phenotypes are gingivitis and conjunctivitis

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

Wikipedia : 76 Normophosphatemic familial tumoral calcinosis is a cutaneous disorder characterized by cutaneous... more...

Description from OMIM: 610455

Related Diseases for Tumoral Calcinosis, Normophosphatemic, Familial

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

# Related Disease Score Top Affiliating Genes
1 familial tumoral calcinosis 27.7 EGR1 GALNT3 RGL2 SAMD9 SAMD9L
2 septic arthritis 9.3 CALCA IFNG
3 secondary hypertrophic osteoarthropathy 9.3 CALCA GALNT3
4 mineral metabolism disease 9.1 CALCA GALNT3
5 hashimoto thyroiditis 9.0 CALCA IFNG
6 calcinosis 8.0 CALCA GALNT3 RGL2 SAMD9 SAMD9L

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



Diseases related to Tumoral Calcinosis, Normophosphatemic, Familial

Symptoms & Phenotypes for Tumoral Calcinosis, Normophosphatemic, Familial

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
conjunctivitis

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

Laboratory Abnormalities:
normal serum phosphate

Head And Neck Mouth:
gingivitis

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


Clinical features from OMIM:

610455

Human phenotypes related to Tumoral Calcinosis, Normophosphatemic, Familial:

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

Drugs & Therapeutics for Tumoral Calcinosis, Normophosphatemic, Familial

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

Genetic Tests for Tumoral Calcinosis, Normophosphatemic, Familial

Genetic tests related to Tumoral Calcinosis, Normophosphatemic, Familial:

# Genetic test Affiliating Genes
1 Tumoral Calcinosis, Familial, Normophosphatemic 29 SAMD9

Anatomical Context for Tumoral Calcinosis, Normophosphatemic, Familial

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

41
Skin, Bone

Publications for Tumoral Calcinosis, Normophosphatemic, Familial

Articles related to Tumoral Calcinosis, Normophosphatemic, Familial:

# Title Authors Year
1
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. ( 21160498 )
2011
2
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. ( 18094730 )
2008
3
[SAMD9 mutation in normophosphatemic familial tumoral calcinosis]. ( 17507861 )
2007
4
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. ( 16960814 )
2006

Variations for Tumoral Calcinosis, Normophosphatemic, Familial

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

75
# Symbol AA change Variation ID SNP ID
1 SAMD9 p.Lys1495Glu VAR_031529 rs121918554

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

6
# 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
2 SAMD9 NM_017654.3(SAMD9): c.4483A> G (p.Lys1495Glu) single nucleotide variant Pathogenic rs121918554 GRCh38 Chromosome 7, 93101615: 93101615
3 SAMD9 NM_001193307.1(SAMD9): c.460C> T (p.Gln154Ter) single nucleotide variant Uncertain significance rs767558735 GRCh38 Chromosome 7, 93105638: 93105638
4 SAMD9 NM_001193307.1(SAMD9): c.460C> T (p.Gln154Ter) single nucleotide variant Uncertain significance rs767558735 GRCh37 Chromosome 7, 92734951: 92734951
5 SAMD9 NM_001193307.1(SAMD9): c.95delA (p.His32Profs) deletion Uncertain significance rs1085307093 GRCh37 Chromosome 7, 92735316: 92735316
6 SAMD9 NM_001193307.1(SAMD9): c.95delA (p.His32Profs) deletion Uncertain significance rs1085307093 GRCh38 Chromosome 7, 93106003: 93106003

Expression for Tumoral Calcinosis, Normophosphatemic, Familial

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

Pathways for Tumoral Calcinosis, Normophosphatemic, Familial

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

# 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, Normophosphatemic, Familial

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.43 CALCA IFNG RREB1
2 Ras protein signal transduction GO:0007265 9.16 RGL2 RREB1
3 positive regulation of epithelial cell migration GO:0010634 8.96 IFNG RREB1
4 endosomal vesicle fusion GO:0034058 8.62 SAMD9 SAMD9L

Sources for Tumoral Calcinosis, Normophosphatemic, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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