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Normophosphatemic familial tumoral calcinosis(NFTC)

MedGen UID:
355311
•Concept ID:
C1864861
•
Disease or Syndrome
Synonym: CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA
SNOMED CT: Normocalcemic tumoral calcinosis (1162852008); Familial normophosphatemic tumoral calcinosis (1162852008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): SAMD9 (7q21.2)
 
Monarch Initiative: MONDO:0012502
OMIM®: 610455
Orphanet: ORPHA306658

Clinical features

From HPO
Calcinosis cutis
MedGen UID:
472879
•Concept ID:
C0006664
•
Disease or Syndrome
Deposition of calcium in the skin.
See: Feature record | Search on this feature
Conjunctivitis
MedGen UID:
1093
•Concept ID:
C0009763
•
Disease or Syndrome
Inflammation of the conjunctiva.
See: Feature record | Search on this feature
Decreased circulating parathyroid hormone level
MedGen UID:
1630961
•Concept ID:
C0729198
•
Finding
An abnormally decreased concentration of parathyroid hormone.
See: Feature record | Search on this feature
Abnormal blood phosphate concentration
MedGen UID:
867643
•Concept ID:
C4022032
•
Finding
An abnormality of phosphate homeostasis or concentration in the body.
See: Feature record | Search on this feature
Abnormality of vitamin D metabolism
MedGen UID:
867646
•Concept ID:
C4022035
•
Finding
See: Feature record | Search on this feature
Abnormal circulating calcium concentration
MedGen UID:
868059
•Concept ID:
C4022450
•
Finding
Any deviation from the normal concentration of calcium in the blood circulation.
See: Feature record | Search on this feature
Gingivitis
MedGen UID:
4895
•Concept ID:
C0017574
•
Disease or Syndrome
Inflammation of the gingiva.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNormophosphatemic familial tumoral calcinosis
Follow this link to review classifications for Normophosphatemic familial tumoral calcinosis in Orphanet.

Professional guidelines

PubMed

Successful treatment approaches for tumoral calcinosis in children and young people: A condition of diverse pathogenesis.
Anilkumar A, Högler W, Bursell J, Nadar R, Ryan F, Randell T, Shaw NJ, Uday S
Bone 2024 May;182:117049. Epub 2024 Feb 15 doi: 10.1016/j.bone.2024.117049. PMID: 38364881

Recent clinical studies

Etiology

Sterile α Motif Domain Containing 9 Is a Novel Cellular Interacting Partner to Low-Risk Type Human Papillomavirus E6 Proteins.
Wang J, Dupuis C, Tyring SK, Underbrink MP
PLoS One 2016;11(2):e0149859. Epub 2016 Feb 22 doi: 10.1371/journal.pone.0149859. PMID: 26901061Free PMC Article

Prognosis

Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
Chefetz I, Ben Amitai D, Browning S, Skorecki K, Adir N, Thomas MG, Kogleck L, Topaz O, Indelman M, Uitto J, Richard G, Bradman N, Sprecher E
J Invest Dermatol 2008 Jun;128(6):1423-9. Epub 2007 Dec 20 doi: 10.1038/sj.jid.5701203. PMID: 18094730Free PMC Article
Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse.
Li CF, MacDonald JR, Wei RY, Ray J, Lau K, Kandel C, Koffman R, Bell S, Scherer SW, Alman BA
BMC Genomics 2007 Apr 3;8:92. doi: 10.1186/1471-2164-8-92. PMID: 17407603Free PMC Article

Clinical prediction guides

Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
Chefetz I, Ben Amitai D, Browning S, Skorecki K, Adir N, Thomas MG, Kogleck L, Topaz O, Indelman M, Uitto J, Richard G, Bradman N, Sprecher E
J Invest Dermatol 2008 Jun;128(6):1423-9. Epub 2007 Dec 20 doi: 10.1038/sj.jid.5701203. PMID: 18094730Free PMC Article
Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse.
Li CF, MacDonald JR, Wei RY, Ray J, Lau K, Kandel C, Koffman R, Bell S, Scherer SW, Alman BA
BMC Genomics 2007 Apr 3;8:92. doi: 10.1186/1471-2164-8-92. PMID: 17407603Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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