ORPHA:2380
Legg-Calvé-Perthes disease
Synonyms: Aseptic necrosis of the capital femoral epiphysis · Osteochondrosis of the capital femoral epiphysis · Perthes disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Multigenic/multifactorial
- Age of onset
- Childhood
- Status
- active
A rare osteochondrosis characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Legg-Calvé-Perthes disease | Aseptic necrosis of the capital femoral epiphysis · Osteochondrosis of the capital femoral epiphysis · Perthes disease |
| fr | Maladie de Legg-Calvé-Perthes | Maladie de Perthes · Ostéochondrite des épiphyses fémorales · Ostéochondrite primitive de hanche |
| de | Legg-Calvé-Perthes-Krankheit | Osteochondritis der Femurkopfepiphyse · Osteochondrose der Hüftkopfepiphyse · Perthes-Krankheit |
| es | Enfermedad de Legg-Calvé-Perthes | Enfermedad de Perthes · Necrosis aséptica de la epífisis capital femoral · Osteocondrosis de la epífisis capital femoral |
| it | Malattia di Legg-Calvé-Perthes | Malattia di Perthes · Necrosi asettica dell'epifisi capitale del femore · Osteocondrite dell'epifisi femorale capitale · Osteocondrosi dell'epifisi femorale capitale |
| nl | Ziekte van Legg-Calvé-Perthes | Aseptische necrose van epifyse van femurkop · Osteochondrose van epifyse van femurkop · Ziekte van Perthes |
| pt | Doença de Legg-Calvé-Perthes | Doença de Perthes · Osteocondrite deformante |
| pl | Choroba Legga, Calvé i Perthesa | Aseptyczna martwica nasady głowy kości udowej · Choroba Perthesa · Osteochondroza nasady głowy kości udowej · Osteochondroza nasady głowy kości udowej |
| cs | Calvého-Leggova-Perthesova nemoc | Aseptická nekróza hlavice kosti stehenní · Perthesova nemoc · Osteochondritida epifýzy hlavice femuru · Osteochondróza epifýzy hlavice femuru · Calvé-Legg-Perthesova nemoc |
| uk | Хвороба Легга-Кальве-Пертеса | Асептичний некроз капілярного епіфізу стегнової кістки · Остеохондроз епіфіза великого вертлюга стегнової кістки · Хвороба Пертеса |
| zh | Legg-CalvÚ-Perthes病 | 股骨头无菌性坏死 |
| tr | Legg-Calvé-Perthes hastalığı | Perthes hastalığı · Femur başı epifizinin osteokondrozu · Femur başı epifizinin aseptik nekrozu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 150600 | E | validated | |
| ICD-10 | M91.1 | E | specific | validated |
| ICD-11 | FB82.1 | NTBT | index | validated |
| MONDO | 0007885 | E | validated | |
| MeSH | D007873 | E | validated | |
| UMLS | C1442965 | E | validated | |
| GARD | 6874 | E | validated | |
| MedDRA | 10034735 | 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 (2):
- ORPHA:399319Osteochondrosis
rare systemic and rheumatological diseases; rare bone diseases - ORPHA:93421Type 2 collagen-related bone disorder
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2200 | ENSG00000139219 | 120140 | 12q13.11 | collagen type II alpha 1 chain | 17394019[PMID]_18512791[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Annual incidence | 1-9 / 100 000 | 2 / 100 000 | Worldwide | Value and class | Validated | 22223709[PMID]_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.
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HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0002829 | Arthralgia | |
| HP:0010885 | Avascular necrosis | |
| HP:0100773 | Cartilage destruction | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001373 | Joint dislocation | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2380
- This record as JSON: /data/d/2380.json