NFTC
MCID: TMR017
MIFTS: 34

Tumoral Calcinosis, Normophosphatemic, Familial (NFTC)

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

Aliases & Classifications for Tumoral Calcinosis, Normophosphatemic, Familial

MalaCards integrated aliases for Tumoral Calcinosis, Normophosphatemic, Familial:

Name: Tumoral Calcinosis, Normophosphatemic, Familial 58 76 74
Tumoral Calcinosis, Familial, Normophosphatemic 58 30 13 6 41
Normophosphatemic Familial Tumoral Calcinosis 12 54 15
Nftc 58 54 76
Familial Normophosphatemic Tumoral Calcinosis 60
Calcinosis, Tumoral, with Normophosphatemia 58
Tumoral Calcinosis with Normophosphatemia 76

Characteristics:

Orphanet epidemiological data:

60
familial normophosphatemic tumoral calcinosis
Inheritance: Autosomal recessive;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
present in jewish yemenite population


HPO:

33
tumoral calcinosis, normophosphatemic, familial:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080170
OMIM 58 610455
MeSH 45 D002114
ICD10 via Orphanet 35 M11.2
UMLS via Orphanet 75 C1864861
Orphanet 60 ORPHA306658
MedGen 43 C1864861
UMLS 74 C1864861

Summaries for Tumoral Calcinosis, Normophosphatemic, Familial

UniProtKB/Swiss-Prot : 76 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 calcinosis and familial tumoral calcinosis. An important gene associated with Tumoral Calcinosis, Normophosphatemic, Familial is SAMD9 (Sterile Alpha Motif Domain Containing 9), and among its related pathways/superpathways are Spinal Cord Injury and Glucocorticoid receptor regulatory network. 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 : 77 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 calcinosis 29.6 CALCA GALNT3 RGL2 SAMD9 SAMD9L
2 familial tumoral calcinosis 29.1 EGR1 GALNT3 RGL2 SAMD9 SAMD9L
3 tumoral calcinosis, hyperphosphatemic, familial, 1 9.9 GALNT3 SAMD9
4 secondary hypertrophic osteoarthropathy 9.9 CALCA GALNT3
5 mineral metabolism disease 9.7 CALCA GALNT3
6 aseptic meningitis 9.7 CALCA IFNG
7 hashimoto thyroiditis 9.5 CALCA IFNG

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

Human phenotypes related to Tumoral Calcinosis, Normophosphatemic, Familial:

33
# Description HPO Frequency HPO Source Accession
1 gingivitis 33 HP:0000230
2 conjunctivitis 33 HP:0000509
3 abnormality of the skin 33 HP:0000951
4 calcinosis 33 HP:0003761

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
gingivitis

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

Laboratory Abnormalities:
normal serum phosphate

Head And Neck Eyes:
conjunctivitis

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

Clinical features from OMIM:

610455

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 30 SAMD9

Anatomical Context for Tumoral Calcinosis, Normophosphatemic, Familial

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

42
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:

76
# Symbol AA change Variation ID SNP ID
1 SAMD9 p.Lys1495Glu VAR_031529 rs121918554

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

6 (show all 24)
# 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
7 SAMD9 NM_017654.3(SAMD9): c.4558G> T (p.Glu1520Ter) single nucleotide variant Uncertain significance rs200178876 GRCh37 Chromosome 7, 92730853: 92730853
8 SAMD9 NM_017654.3(SAMD9): c.4558G> T (p.Glu1520Ter) single nucleotide variant Uncertain significance rs200178876 GRCh38 Chromosome 7, 93101540: 93101540
9 SAMD9 NM_017654.3(SAMD9): c.4334_4336delAAC (p.Gln1445del) deletion Uncertain significance rs755666547 GRCh37 Chromosome 7, 92731074: 92731077
10 SAMD9 NM_017654.3(SAMD9): c.4334_4336delAAC (p.Gln1445del) deletion Uncertain significance rs755666547 GRCh38 Chromosome 7, 93101762: 93101764
11 SAMD9 NM_017654.3(SAMD9): c.3651dup (p.Asp1218Terfs) duplication Likely benign rs199887936 GRCh37 Chromosome 7, 92731759: 92731759
12 SAMD9 NM_017654.3(SAMD9): c.3651dup (p.Asp1218Terfs) duplication Likely benign rs199887936 GRCh38 Chromosome 7, 93102447: 93102447
13 SAMD9 NM_017654.3(SAMD9): c.3505C> T (p.Gln1169Ter) single nucleotide variant Uncertain significance rs1554336918 GRCh37 Chromosome 7, 92731906: 92731906
14 SAMD9 NM_017654.3(SAMD9): c.3505C> T (p.Gln1169Ter) single nucleotide variant Uncertain significance rs1554336918 GRCh38 Chromosome 7, 93102593: 93102593
15 SAMD9 NM_017654.3(SAMD9): c.3381C> A (p.Tyr1127Ter) single nucleotide variant Uncertain significance rs572380130 GRCh37 Chromosome 7, 92732030: 92732030
16 SAMD9 NM_017654.3(SAMD9): c.3381C> A (p.Tyr1127Ter) single nucleotide variant Uncertain significance rs572380130 GRCh38 Chromosome 7, 93102717: 93102717
17 SAMD9 NM_017654.3(SAMD9): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs201122403 GRCh37 Chromosome 7, 92735409: 92735409
18 SAMD9 NM_017654.3(SAMD9): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs201122403 GRCh38 Chromosome 7, 93106096: 93106096
19 SAMD9 NM_017654.3(SAMD9): c.2509dup (p.Arg837Lysfs) duplication Uncertain significance rs1554337029 GRCh37 Chromosome 7, 92732901: 92732901
20 SAMD9 NM_017654.3(SAMD9): c.2509dup (p.Arg837Lysfs) duplication Uncertain significance rs1554337029 GRCh38 Chromosome 7, 93103589: 93103589
21 SAMD9 NM_017654.3(SAMD9): c.1800_1801delAA (p.Glu600Aspfs) deletion Uncertain significance rs375515095 GRCh37 Chromosome 7, 92733609: 92733611
22 SAMD9 NM_017654.3(SAMD9): c.1800_1801delAA (p.Glu600Aspfs) deletion Uncertain significance rs375515095 GRCh38 Chromosome 7, 93104297: 93104298
23 SAMD9 NM_017654.3(SAMD9): c.132delA (p.Val45Serfs) deletion Likely pathogenic rs1554337424 GRCh37 Chromosome 7, 92735278: 92735279
24 SAMD9 NM_017654.3(SAMD9): c.132delA (p.Val45Serfs) deletion Likely pathogenic rs1554337424 GRCh38 Chromosome 7, 93105966: 93105966

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 11.4 EGR1 IFNG
2 11.17 EGR1 IFNG
3
Show member pathways
11.04 EGR1 IFNG
4
Show member pathways
10.74 EGR1 IFNG
5 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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