Hyperostosis corticalis generalisata
Synonyms: Hyperphosphatasemia tarda · Van Buchem disease
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperostosis corticalis generalisata | Hyperphosphatasemia tarda · Van Buchem disease |
| fr | Hyperostose corticale généralisée | Hyperphosphatasémie tardive · Maladie de Van Buchem |
| de | Hyperostosis corticalis generalisata | Hyperphosphatasemia tarda · Van Buchem-Krankheit · Van Buchem-Syndrom |
| es | Hiperostosis cortical generalizada | Enfermedad de Van Buchem · Hiperfosfatasemia tardía |
| it | Iperostosi corticale generalizzata | Malattia di Van Buchem |
| nl | Hyperostosis corticalis generalisata | Hyperphosphatasemia tarda · Ziekte van Van Buchem |
| pt | Hiperostose cortical generalizada | |
| pl | Uogólniona hiperostoza korowa | Choroba Van Buchema · Choroba Van Buchema · Hiperfosfatemia późna |
| cs | Familiární generalizovaná kortikální hyperostóza | Van Buchemova nemoc · Hyperostosis corticalis generalisata · Van Buchemův syndrom |
| uk | Гіперостоз кортикальний генералізований (Hyperostosis corticalis generalisata) | Пізня гіперфосфатаземія · Хвороба Ван Бюхема |
| zh | 全身性骨皮质增厚 | 迟发性高磷酸盐血症 |
| tr | Jeneralize kortikal hiperostoz | Van Buchem hastalığı · Hiperfosfatazemi tarda |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 144750 | BTNT | validated | |
| OMIM | 239100 | E | validated | |
| ICD-10 | M89.8 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0009395 | E | validated | |
| UMLS | C0432272 | E | validated | |
| GARD | 2833 | 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 |
|---|---|---|---|---|---|---|---|---|
| LRP5 | Disease-causing germline mutation(s) in | Assessed | HGNC:6697 | ENSG00000162337 | 603506 | 11q13.2 | LDL receptor related protein 5 | 12579474[PMID] |
| SOST | Disease-causing germline mutation(s) in | Assessed | HGNC:13771 | ENSG00000167941 | 605740 | 17q21.31 | sclerostin | 11836356[PMID]_20301406[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 26968112[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26968112[PMID] |
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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0004437 | Cranial hyperostosis | |
| HP:0005019 | Diaphyseal thickening | |
| HP:0005789 | Generalized osteosclerosis | |
| HP:0000303 | Mandibular prognathia | |
| Frequent (79-30%) | ||
| HP:0010628 | Facial palsy | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3416
- This record as JSON: /data/d/3416.json