Details of Disease

General Information of Disease (ID: DISE7BRZ)

Disease Name Legg-Calve-Perthes disease
Synonyms
LCPD; osteochondritis deformans; Lcp; Calve - Perthes' disease; Osteochondrosis of the capital femoral epiphysis; Legg-CALVE-Perthes disease; Legg-Calve-Perthes syndrome; aseptic necrosis of the capital femoral epiphysis; coxa plana; juvenile osteochond-hip/pelvis; Legg-Perthes disease; Legg Calv Perthes Disease; Legg-Calv-Perthes disease; Legg-Calve-Perthes disease; juvenile osteochondrosis of hip and/or pelvis; pseudocoxalgia; Perthes disease; juvenile osteochondrosis of hip and pelvis; Perthe's disease; Legg-Calve-Perthes symptom; Pseudocoxalgia; osteochondrosis of Legg-Calve-Perthes; osteochondritis of the capital femoral epiphysis
Definition
A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.
Disease Hierarchy
DISJ79ZP: Osteochondrosis
DIS8WIDY: Type 2 collagenopathy
DISKV001: Osteonecrosis of genetic origin
DISE7BRZ: Legg-Calve-Perthes disease
Disease Identifiers
MONDO ID
MONDO_0007885
MESH ID
D007873
UMLS CUI
C0023234
OMIM ID
150600
MedGen ID
6035
HPO ID
HP:0005743
Orphanet ID
2380
SNOMED CT ID
240241003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CREBBP TTFRCTK Strong Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL2A1 OT5E59C8 Strong Autosomal dominant [2]
FGB OT6RKLI9 Strong Genetic Variation [3]
SRCAP OT82P6CN Strong Genetic Variation [1]
------------------------------------------------------------------------------------

References

1 Perthes disease: A new finding in Floating-Harbor syndrome.Am J Med Genet A. 2018 Mar;176(3):703-706. doi: 10.1002/ajmg.a.38605. Epub 2018 Jan 31.
2 Relationship between somatic mutation and neoplastic transformation. Proc Natl Acad Sci U S A. 1978 Jul;75(7):3297-301. doi: 10.1073/pnas.75.7.3297.
3 The beta fibrinogen gene G-455-A polymorphism is a risk factor for Legg-Perthes disease.J Thromb Haemost. 2003 Nov;1(11):2317-21. doi: 10.1046/j.1538-7836.2003.00416.x.