Familial tumoral calcinosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A phosphocalcic metabolism anomaly, occuring particularly among younger age groups, characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification. Two forms have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial tumoral calcinosis | |
| fr | Calcinose tumorale familiale | |
| de | Tumorale Kalzinose, familiäre | |
| es | Calcinosis tumoral familiar | |
| it | Calcinosi tumorale familiare | |
| nl | Familiale tumorale calcinose | |
| pt | Calcinose tumoral | |
| pl | Wapnienie guzowate | |
| cs | Familiární nádorová kalcinóza | |
| uk | Сімейний пухлинний кальциноз | |
| zh | 家族性瘤样钙化症 | |
| tr | Ailesel tümöral kalsinoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211900 | BTNT | validated | |
| OMIM | 610455 | BTNT | validated | |
| ICD-10 | E83.3 | NTBT | attributed | validated |
| ICD-11 | 5C64.5 | NTBT | attributed | validated |
| MONDO | 0018891 | E | validated | |
| UMLS | C0263628 | E | validated | |
| GARD | 10877 | E | validated | |
| MedDRA | 10059364 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:498445Genetic inflammatory or rheumatoid-like osteoarthropathy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:183634Rare genetic parathyroid disease and phosphocalcic metabolism disorder
rare genetic diseases - ORPHA:68415Rare parathyroid disease and phosphocalcic metabolism anomaly
rare endocrine diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases - ORPHA:182130Tumor of endocrine glands
rare neoplastic diseases
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| FGF23 | ORPHA:306661Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3680 | ENSG00000118972 | 605380 | 12p13.32 | fibroblast growth factor 23 | 15590700[PMID]_22142751[PMID]_19188744[PMID] |
| GALNT3 | ORPHA:306661Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4125 | ENSG00000115339 | 601756 | 2q24.3 | polypeptide N-acetylgalactosaminyltransferase 3 | 15133511[PMID]_21347749[PMID] |
| KL | ORPHA:306661Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6344 | ENSG00000133116 | 604824 | 13q13.1 | klotho | 17710231[PMID]_22142751[PMID] |
| SAMD9 | ORPHA:306658Familial normophosphatemic tumoral calcinosis | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1348 | ENSG00000205413 | 610456 | 7q21.2 | sterile alpha motif domain containing 9 | 16960814[PMID]_18094730[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002653 | Bone pain | |
| HP:0100249 | Calcification of muscles | |
| HP:0007470 | Periarticular subcutaneous nodules | |
| HP:0001482 | Subcutaneous nodule | |
| Frequent (79-30%) | ||
| HP:0010783 | Erythema | |
| HP:0100774 | Hyperostosis | |
| HP:0000988 | Skin rash | |
| Occasional (29-5%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000168 | Abnormality of the gingiva | |
| HP:0000230 | Gingivitis | |
| HP:0002240 | Hepatomegaly | |
| HP:0001609 | Hoarse voice | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 7171486[PMID]_8139834[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/53715
- This record as JSON: /data/d/53715.json