ORPHA:306661
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Synonyms: Hypercalcemic tumoral calcinosis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome | Hypercalcemic tumoral calcinosis |
| fr | Syndrome de calcinose tumorale hyperphosphatémique familiale/Hyperostose hyperphosphatémique | Calcinose tumorale hypercalcémique |
| de | Familiäre hyperphosphatämische tumorale Kalzinose/Hyperphosphatämische Hyperostose-Syndrom | GALNT3-CDG · GALNT3-CDG-Syndrom · Tumoröse Kalzinose, hyperkalzämische |
| es | Síndrome familiar de calcinosis tumoral hiperfosfatémica/hiperostosis hiperfosfatémica | Calcinosis tumoral hipercalcémica |
| it | Sindrome familiare calcinosi tumorale iperfosfatemica-iperostosi iperfosfatemica | Calcinosi tumorale ipercalcemica |
| nl | Familiale hyperfosfatemische tumorale calcinose/Hyperfosfatemische hyperostose-syndroom | Hypercalciëmische tumorale calcinose |
| pt | Calcinose tumoral hiperclacémica | |
| pl | Rodzinna kalcynoza guzowata | GALNT3-CDG · Hiperkalcemiczna kalcynoza guzowata |
| cs | Syndrom familiární hyperfosfatemické tumorové kalcinózy/hyperfosfatemické hyperostózy | Hyperkalcemická tumorová kalcinóza |
| uk | Сімейний гіперфосфатемічний пухлинний кальциноз/синдром гіперфосфатемічного гіперостозу | Гіперкальціємічний пухлинний кальциноз |
| zh | 家族性瘤样钙化高磷酸盐血症/高磷酸盐血症性骨肥厚综合征 | 高钙血症性肿瘤性钙质沉着症 |
| tr | Ailesel hiperfosfatemik tümöral kalsinoz / Hiperfosfatemik hiperostoz sendromu | Hiperkalsemik tümöral kalsinoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211900 | E | validated | |
| OMIM | 617993 | BTNT | validated | |
| OMIM | 617994 | BTNT | validated | |
| ICD-10 | M11.2 | NTBT | attributed | validated |
| MONDO | 0100251 | E | validated | |
| UMLS | C5679978 | E | validated | |
| GARD | 10879 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:371200Congenital disorder of glycosylation with skin involvement
rare genetic diseases; rare skin diseases - ORPHA:309458Disorder of O-N-acetylgalactosaminylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:53715Familial tumoral calcinosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare endocrine diseases; rare bone diseases; rare neoplastic diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGF23 | 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 | 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 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6344 | ENSG00000133116 | 604824 | 13q13.1 | klotho | 17710231[PMID]_22142751[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306661
- This record as JSON: /data/d/306661.json