Juvenile Paget disease
Synonyms: Familial osteoectasia · Hereditary hyperphosphatasia · Hyperostosis corticalis deformans juvenilis · JPG
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile Paget disease | Familial osteoectasia · Hereditary hyperphosphatasia · Hyperostosis corticalis deformans juvenilis · JPG |
| fr | Maladie de Paget juvénile | Hyperostose corticale déformante juvénile · Hyperphosphatasie héréditaire · JPG · Ostéo-ectasie familiale |
| de | Paget-Syndrom, juveniles | Hyperostosis corticalis deformans juvenilis · Osteoektasie, familiäre |
| es | Enfermedad de Paget juvenil | Hiperfosfatasia hereditaria · Hiperostosis cortical deformante juvenil · JPG · Osteoectasia familiar |
| it | Malattia di Paget, forma giovanile | Iperfosfatasia ereditaria · Iperostosi corticale deformante giovanile · JPG · Osteoectasia familiare |
| nl | Juveniele ziekte van Paget | Erfelijke hyperfosfatasie · Familiale osteoectasie · Hyperostosis corticalis deformans juvenilis · JPG |
| pt | Doença de Paget juvenil | Hiperostose cortical deformante juvenil · Osteoectasia familiar |
| pl | Młodzieńcza postać choroby Pageta | Hyperostosid corticalis deformans juvenilis · Dziedziczna hiperfosfatazja · JPG · Młodzieńcza choroba Pageta · Osteoektazja rodzinna |
| cs | Juvenilní Pagetova choroba | Familiární osteoektasie · Vrozená hyperfosfatázie · Hyperostosis corticalis deformans juvenilis · JPG |
| uk | Ювенільна хвороба Педжета | Сімейна остеоектазія · Спадкова гіперфосфатазія · Гіперостоз кори головного мозку деформуючий ювенільний · JPG |
| zh | 青少年paget病 | 幼年骨外层肥厚畸形 |
| tr | Jüvenil Paget hastalığı | JPG · Ailesel osteoektazi · Kalıtsal hiperfosfatazi · Kortikal hiperostoz deformans jüvenilis |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 239000 | E | validated | |
| ICD-10 | M88.0 | NTBT | attributed | validated |
| ICD-10 | M88.8 | NTBT | attributed | validated |
| ICD-10 | M88.9 | NTBT | attributed | validated |
| ICD-11 | FB85.0 | E | specific | validated |
| MONDO | 0009394 | E | validated | |
| MeSH | C537701 | E | validated | |
| UMLS | C0268414 | E | validated | |
| GARD | 2831 | E | validated | |
| MedDRA | 10078977 | 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 (1):
- ORPHA:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TNFRSF11A | Candidate gene tested in | Not yet assessed | HGNC:11908 | ENSG00000141655 | 603499 | 18q21.33 | TNF receptor superfamily member 11a | 25063546[PMID] |
| TNFRSF11B | Disease-causing germline mutation(s) in | Assessed | HGNC:11909 | ENSG00000164761 | 602643 | 8q24.12 | TNF receptor superfamily member 11b | 12124406[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000889 | Abnormality of the clavicle | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0006487 | Bowing of the long bones | |
| HP:0004437 | Cranial hyperostosis | |
| HP:0002149 | Hyperuricemia | |
| HP:0000256 | Macrocephaly | |
| HP:0000939 | Osteoporosis | |
| HP:0002757 | Recurrent fractures | |
| HP:0100670 | Rough bone trabeculation | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000365 | Hearing impairment | |
| HP:0000822 | Hypertension | |
| HP:0000648 | Optic atrophy | |
| HP:0000768 | Pectus carinatum | |
| Occasional (29-5%) | ||
| HP:0000995 | Melanocytic nevus | |
| HP:0001482 | Subcutaneous nodule | |
Run the differential on the 10 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2801
- This record as JSON: /data/d/2801.json