Legg-Calvé-Perthes disease

General Information (adopted from Orphanet):

Synonyms, Signs: LEGG-PERTHES DISEASE
LCP
LCPD
Osteochondrosis of the capital femoral epiphysis
Osteochondritis of the capital femoral epiphysis
perthes disease
Aseptic necrosis of the capital femoral epiphysis
Number of Symptoms 11
OrphanetNr: 2380
OMIM Id: 150600
ICD-10: M91.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Multifactorial
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Type 2 collagen-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
2
 (HPO:0005743) Avascular necrosis of the capital femoral epiphysis 17 / 7739
3
 (HPO:0100773) Cartilage destruction Very frequent [Orphanet] 7 / 7739
4
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
5
 (HPO:0001367) Abnormal joint morphology Very frequent [Orphanet] 53 / 7739
6
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
7
 (HPO:0010885) Aseptic necrosis Very frequent [Orphanet] 24 / 7739
8
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
9
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
10
 (OMIM) Painful limp 1 / 7739
11
 (OMIM) Necrosis of capital femoral epiphysis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Legg-Calve-Perthes disease is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and ...
Clinical Description OMIM Wamoscher and Farhi (1963) described a Jewish family in which 8 members of 3 generations were affected. Boys predominate heavily in all reports of sporadic cases of the disease. In the families with multiple cases the sex ratio ...
Molecular genetics OMIM In affected members of Japanese family segregating Legg-Calve-Perthes disease, Miyamoto et al. (2007) identified a missense mutation in the COL2A1 gene (120140.0043). The same mutation had previously been identified in patients with ANFH.