ORPHA:321
Multiple osteochondromas
Synonyms: Bessel-Hagen disease · Multiple cartilaginous exostoses
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A primary bone disorder characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) at the surface of the bones.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple osteochondromas | Bessel-Hagen disease · Multiple cartilaginous exostoses |
| fr | Maladie des exostoses multiples | Maladie de Bessel-Hagen · Ostéochondromes multiples |
| de | Osteochondrome, multiple | Bessel-Hagen-Krankheit · Multiple kartilaginären Exostosen |
| es | Osteocondromas múltiples | Enfermedad de Bessel-Hagen · Exostosis cartilaginosa múltiple |
| it | Osteocondromi multipli | EXT1/EXT2-CDG · Esostosi cartilaginee multiple · Malattia di Bessel-Hagen |
| nl | Multipele osteochondromen | Meervoudige kraakbeenexostosen · Ziekte van Bessel-Hagen |
| pt | Osteocondromas múltiplos | Exostoses cartilagíneas múltiplas |
| pl | Mnogie kostniakochrzęstniaki | Choroba Bessela i Hagena · Mnogie wyrośla chrzęstne |
| cs | Mnohočetná osteochondromatóza | Bessel-Hagenova nemoc · EXT1/EXT2-CDG · Mnohočetné kartilaginózní exostózy |
| uk | Множинні остеохондроми | Хвороба Бесселя-Хагена · Множинні хрящові екзостози |
| zh | 多发性骨软骨瘤 | 多发性软骨外生骨疣 |
| tr | Çoklu osteokondrom | Bessel-Hagen hastalığı · çoklu kıkırdak ekzostozlar |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133700 | E | validated | |
| OMIM | 133701 | BTNT | validated | |
| OMIM | 600209 | BTNT | validated | |
| ICD-10 | Q78.6 | E | specific | validated |
| ICD-11 | LD24.20 | E | specific | validated |
| MONDO | 0005508 | E | validated | |
| MONDO | 5508 | E | validated | |
| UMLS | C0206641 | E | validated | |
| GARD | 7035 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:371195Congenital disorder of glycosylation-related bone disorder
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:309450Disorder of O-xylosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183527Genetic bone tumor
rare genetic diseases - ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:68411Rare bone tumor
rare bone diseases; rare neoplastic diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EXT2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3513 | ENSG00000151348 | 608210 | 11p11.2 | exostosin glycosyltransferase 2 | 20301413[PMID] |
| EXT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3512 | ENSG00000182197 | 608177 | 8q24.11 | exostosin glycosyltransferase 1 | 20301413[PMID] |
5
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 100 / 100 000 | Specific population | Value and class | Validated | 13754517[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.9 / 100 000 | United Kingdom | Value and class | Validated | 6417335[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.35 / 100 000 | Netherlands | Value and class | Validated | 1856833[PMID] |
| Point prevalence | 1-9 / 100 000 | 3 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2018[OTHER] |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | United States | Value and class | Validated | 8027127[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.
6
HPO phenotypes
56 annotations · validated 2021-09-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0030431 | Osteochondroma | |
| Frequent (79-30%) | ||
| HP:0003330 | Abnormal bone structure | |
| HP:0002763 | Abnormal cartilage morphology | |
| HP:0040069 | Abnormal lower limb bone morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0002815 | Abnormality of the knee | |
| HP:0003959 | Deformed forearm bones | |
| HP:0004302 | Functional motor deficit | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0012531 | Pain | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0005922 | Abnormal hand morphology | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0001369 | Arthritis | |
| HP:0100555 | Asymmetric growth | |
| HP:0006487 | Bowing of the long bones | |
| HP:0025232 | Bursitis | |
| HP:0002673 | Coxa valga | |
| HP:0003977 | Deformed radius | |
| HP:0030883 | Femoroacetabular impingement | |
| HP:0009821 | Forearm undergrowth | |
| HP:0002857 | Genu valgum | |
| HP:0009826 | Limb undergrowth | |
| HP:0010501 | Limitation of knee mobility | |
| HP:0008800 | Limited hip movement | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0003016 | Metaphyseal widening | |
| HP:0003326 | Myalgia | |
| HP:0003026 | Short long bone | |
| HP:0006385 | Short lower limbs | |
| HP:0010049 | Short metacarpal | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0032510 | Tendon pain | |
| Very rare (<4-1%) | ||
| HP:0001191 | Abnormal carpal morphology | |
| HP:0040163 | Abnormal pelvis bone morphology | |
| HP:0001850 | Abnormality of the tarsal bones | |
| HP:0020110 | Bone fracture | |
| HP:0002318 | Cervical myelopathy | |
| HP:0100749 | Chest pain | |
| HP:0006765 | Chondrosarcoma | |
| HP:0002015 | Dysphagia | |
| HP:0012151 | Hemothorax | |
| HP:0005214 | Intestinal obstruction | |
| HP:0003406 | Peripheral nerve compression | |
| HP:0002107 | Pneumothorax | |
| HP:0031625 | Pseudoaneurysm | |
| HP:0000896 | Rib exostoses | |
| HP:0000918 | Scapular exostoses | |
| HP:0002176 | Spinal cord compression | |
| HP:0008443 | Spinal deformities | |
| HP:0003396 | Syringomyelia | |
| HP:0004684 | Talipes valgus | |
| HP:0002144 | Tethered cord | |
| HP:0000016 | Urinary retention | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 32253147[PMID]_20301413[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/321
- This record as JSON: /data/d/321.json