Normocalcemic tumoral calcinosis

General Information (adopted from Orphanet):

Synonyms, Signs: CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA
NFTC
Number of Symptoms 9
OrphanetNr: 306658
OMIM Id: 610455
ICD-10: M11.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Tumoral calcinosis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000230) Gingivitis 31 / 7739
2
 (HPO:0000509) Conjunctivitis 47 / 7739
3
 (HPO:0000951) Abnormality of the skin 147 / 7739
4
 (HPO:0003761) Calcinosis 12 / 7739
5
 (OMIM) Erythematous papular skin eruption (infancy) 1 / 7739
6
 (OMIM) Calcified, ulcerating nodules 1 / 7739
7
 (OMIM) Normal serum phosphate 1 / 7739
8
 (OMIM) Massive calcium deposition in mid- and lower dermis 1 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Familial tumoral calcinosis (FTC) is an uncommon life-threatening disorder characterized by massive periarticular, and seldom visceral, deposition of calcified tumors (Metzker et al., 1988). When associated with hyperphosphatemia, the disorder is known as hyperphosphatemic FTC (HFTC; 211900). Topaz ...
Molecular genetics OMIM In 5 Jewish Yemenite families with NFTC, Topaz et al. (2006) screened the SAMD9 gene, found within the shared homozygous interval, and detected a substitution of a negatively charged glutamic acid residue for a positively charged lysine residue ...