NFTC
MCID: TMR017
MIFTS: 31

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 57 72 70
Tumoral Calcinosis, Familial, Normophosphatemic 57 29 13 6 39
Normophosphatemic Familial Tumoral Calcinosis 12 20 15
Nftc 57 20 72
Familial Normophosphatemic Tumoral Calcinosis 58
Calcinosis, Tumoral, with Normophosphatemia 57
Tumoral Calcinosis with Normophosphatemia 72

Characteristics:

Orphanet epidemiological data:

58
familial normophosphatemic tumoral calcinosis
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
present in jewish yemenite population


HPO:

31
tumoral calcinosis, normophosphatemic, familial:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080170
OMIM® 57 610455
MeSH 44 D002114
ICD10 via Orphanet 33 M11.2
UMLS via Orphanet 71 C1864861
Orphanet 58 ORPHA306658
MedGen 41 C1864861
UMLS 70 C1864861

Summaries for Tumoral Calcinosis, Normophosphatemic, Familial

UniProtKB/Swiss-Prot : 72 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 calcinosis. An important gene associated with Tumoral Calcinosis, Normophosphatemic, Familial is SAMD9 (Sterile Alpha Motif Domain Containing 9). 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 : 73 Normophosphatemic familial tumoral calcinosis is a cutaneous disorder characterized by cutaneous... more...

More information 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 31.6 SAMD9L SAMD9 RGL2
2 calcinosis 30.3 SAMD9L SAMD9 RGL2 ENPP1
3 autosomal recessive disease 10.4
4 immunodeficiency 21 10.0 SAMD9L SAMD9
5 calcification of joints and arteries 9.9 ENPP1 ABCC6
6 angioid streaks 9.9 ENPP1 ABCC6
7 tumoral calcinosis, hyperphosphatemic, familial, 1 9.9 SAMD9 ENPP1
8 arterial calcification of infancy 9.8 ENPP1 ABCC6
9 pseudoxanthoma elasticum 9.7 ENPP1 ABCC6
10 myelodysplastic syndrome 9.3 SAMD9L SAMD9 IRF1 HEPACAM2

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:

31
# Description HPO Frequency HPO Source Accession
1 gingivitis 31 HP:0000230
2 conjunctivitis 31 HP:0000509
3 abnormality of the skin 31 HP:0000951
4 calcinosis 31 HP:0003761

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Publications for Tumoral Calcinosis, Normophosphatemic, Familial

Articles related to Tumoral Calcinosis, Normophosphatemic, Familial:

(show all 14)
# Title Authors PMID Year
1
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. 57 6 61
18094730 2008
2
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. 57 6 61
16960814 2006
3
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. 6
28346228 2017
4
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. 57
15133511 2004
5
Tumoral calcinosis revisited--common and uncommon features. Report of ten cases and review. 57
3366131 1988
6
Efficacy of an email-based recording and reminding system for limiting daytime non-functional tooth contact in patients with temporomandibular disorders: A randomized controlled trial. 61
31418908 2020
7
Serum cholesterol positively associated with oxidative DNA damage: a propensity score-matched analysis. 61
30885010 2019
8
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and ╬▒Klotho). 61
22142751 2011
9
The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development. 61
21412262 2011
10
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. 61
21160498 2011
11
Comparative stability of canine and feline hemostatic proteins in freeze-thaw-cycled fresh frozen plasma. 61
20955297 2010
12
US Trauma Center Preparation for a Terrorist Attack in the Community. 61
26814901 2009
13
Tea catechins enhance the mRNA expression of uncoupling protein 1 in rat brown adipose tissue. 61
18479902 2008
14
Neuropathology of mild cognitive impairment. 61
18021380 2007

Variations for Tumoral Calcinosis, Normophosphatemic, Familial

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

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SAMD9 NM_017654.4(SAMD9):c.4483A>G (p.Lys1495Glu) SNV Pathogenic 1229 rs121918554 GRCh37: 7:92730928-92730928
GRCh38: 7:93101615-93101615
2 SAMD9 NM_017654.4(SAMD9):c.1030C>T (p.Arg344Ter) SNV Pathogenic 929259 GRCh37: 7:92734381-92734381
GRCh38: 7:93105068-93105068
3 SAMD9 NM_017654.4(SAMD9):c.132del (p.Val45fs) Deletion Likely pathogenic 556683 rs1554337424 GRCh37: 7:92735279-92735279
GRCh38: 7:93105966-93105966
4 SAMD9 NM_017654.4(SAMD9):c.2T>C (p.Met1Thr) SNV Likely pathogenic 553658 rs201122403 GRCh37: 7:92735409-92735409
GRCh38: 7:93106096-93106096
5 SAMD9 NM_017654.4(SAMD9):c.4558G>T (p.Glu1520Ter) SNV Uncertain significance 554312 rs200178876 GRCh37: 7:92730853-92730853
GRCh38: 7:93101540-93101540
6 SAMD9 NM_017654.4(SAMD9):c.4331_4333AAC[1] (p.Gln1445del) Microsatellite Uncertain significance 555093 rs755666547 GRCh37: 7:92731075-92731077
GRCh38: 7:93101762-93101764
7 SAMD9 NM_017654.4(SAMD9):c.460C>T (p.Gln154Ter) SNV Uncertain significance 225463 rs767558735 GRCh37: 7:92734951-92734951
GRCh38: 7:93105638-93105638
8 SAMD9 NM_017654.4(SAMD9):c.95del (p.His32fs) Deletion Uncertain significance 225462 rs1085307093 GRCh37: 7:92735316-92735316
GRCh38: 7:93106003-93106003
9 SAMD9 NM_017654.4(SAMD9):c.3505C>T (p.Gln1169Ter) SNV Uncertain significance 557138 rs1554336918 GRCh37: 7:92731906-92731906
GRCh38: 7:93102593-93102593
10 SAMD9 NM_017654.4(SAMD9):c.2509dup (p.Arg837fs) Duplication Uncertain significance 558150 rs1554337029 GRCh37: 7:92732901-92732902
GRCh38: 7:93103588-93103589
11 SAMD9 NM_017654.4(SAMD9):c.2198T>C (p.Ile733Thr) SNV Uncertain significance 634460 rs778749748 GRCh37: 7:92733213-92733213
GRCh38: 7:93103900-93103900
12 SAMD9 NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter) SNV Uncertain significance 552976 rs572380130 GRCh37: 7:92732030-92732030
GRCh38: 7:93102717-93102717
13 SAMD9 NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs) Deletion Uncertain significance 554815 rs375515095 GRCh37: 7:92733610-92733611
GRCh38: 7:93104297-93104298
14 SAMD9 NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter) Duplication Likely benign 554715 rs199887936 GRCh37: 7:92731759-92731760
GRCh38: 7:93102446-93102447

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

72
# Symbol AA change Variation ID SNP ID
1 SAMD9 p.Lys1495Glu VAR_031529 rs121918554

Expression for Tumoral Calcinosis, Normophosphatemic, Familial

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

Pathways for Tumoral Calcinosis, Normophosphatemic, Familial

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 Ras protein signal transduction GO:0007265 8.96 RREB1 RGL2
2 inorganic diphosphate transport GO:0030505 8.62 ENPP1 ABCC6

Sources for Tumoral Calcinosis, Normophosphatemic, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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