LCPD
MCID: LGG001
MIFTS: 65

Legg-Calve-Perthes Disease (LCPD) malady

Rare diseases, Bone diseases categories

Summaries for Legg-Calve-Perthes Disease

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9Disease Ontology, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Legg-calve-perthes disease occurs when the ball of the thighbone in the hip doesn’t get enough blood, causing the bone to die. early symptoms may include mildly painful limp, pain down the inner thigh to the knee, some restriction of hip movement, pain at extremes of movement, and tenderness over the hip joint. treatment may include a brief period of bed rest (1 to 3 days) followed by bracing. rarely bracing may be required for 2 to 3 years. chance of recovery (prognosis) varies, but tends to be better for younger patients (e.g., less than 6 years of age). some people with this syndrome go on to develop degenerative arthritis. the cause of the condition is unknown. last updated: 1/6/2011

MalaCards: Legg-Calve-Perthes Disease, also known as perthes disease, is related to thrombophilia and protein c deficiency, and has symptoms including short stature/dwarfism/nanism, polygenic/multifactorial inheritance and cartilage destruction/chondrolysis. An important gene associated with Legg-Calve-Perthes Disease is COL2A1 (collagen, type II, alpha 1), and among its related pathways are Selected targets of GCR alpha and Collagen biosynthesis and modifying enzymes. The compounds sarpogrelate hydrochloride and fibrinopeptide a have been mentioned in the context of this disorder. Affiliated tissues include hip joint and bone, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Disease Ontology:9 An osteochondrosis that results in death and fracture located in hip joint.

Description from OMIM:48 150600

Aliases & Classifications for Legg-Calve-Perthes Disease

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 23GTR, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 27ICD10 via Orphanet, 64UMLS via Orphanet, 26ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Bone diseases
Orphanet: 50 
Rare bone diseases


Characteristics (Orphanet epidemiological data):

50
perthes disease:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

legg-calve-perthes disease 9 10 44 48 11 63
perthes disease 9 44 46 50
coxa plana 9 44 23
avascular necrosis of the capital femoral epiphysis 63
aseptic necrosis of the capital femoral epiphysis 50
osteochondrosis of the capital femoral epiphysis 50
osteochondritis of the capital femoral epiphysis 50
juvenile osteochondrosis of hip and/or pelvis 9
juvenile osteochondrosis of tibial tubercle 63
juvenile osteochondrosis of hip and pelvis 9
osteochondrosis of legg-calve-perthes 9
juvenile osteochond-hip/pelvis 9
legg-calvé-perthes disease 50
legg-calve-perthes syndrome 44
osteochondritis deformans 44
calve - perthes' disease 9
perthe's disease 9
pseudocoxalgia 9
lcpd 44


External Ids:

Disease Ontology9 DOID:14415
OMIM48 150600
NCIt41 C34766
MeSH36 D007873
ICD10 via Orphanet27 M91.1
UMLS via Orphanet64 C0023234
ICD1026 M91, M91.2, M91.3

Related Diseases for Legg-Calve-Perthes Disease

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18GeneCards, 19GeneDecks
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Diseases related to Legg-Calve-Perthes Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 291)
idRelated DiseaseScoreTop Affiliating Genes
1thrombophilia30.5THBD, SERPINE1, SERPINC1, F5
2protein c deficiency30.2SERPINC1, SERPINE1, THBD, F5
3osteochondritis dissecans10.7
4upington disease10.6
5exostosis10.4
6osteochondrosis10.4
7synovitis10.4
8pandas10.4
9avascular necrosis of the femoral head10.4
10slipped capital femoral epiphysis10.4
11multiple epiphyseal dysplasia10.3
12type vi ehlers-danlos syndrome10.3
13osteoarthritis10.1
14achondroplasia10.1
15thyroiditis10.1
16coffin-siris syndrome10.1
17rubinstein-taybi syndrome10.1
18rothmund-thomson syndrome10.1
19orotic aciduria10.1
20edwards syndrome10.1
21oculocerebrorenal syndrome10.1
22aicardi syndrome10.1
23infectious mononucleosis10.1
24cutis laxa10.1
25cartilage-hair hypoplasia10.1
26trichorhinophalangeal syndrome type i10.1
27weaver syndrome10.1
28mucopolysaccharidosis iii10.1
29mucopolysaccharidosis iv10.1
30sly syndrome10.1
31mucopolysaccharidosis ii10.1
32trichorhinophalangeal syndrome type ii10.1
33camurati-engelmann disease10.1
34acrocapitofemoral dysplasia10.1
35campomelic dysplasia10.1
36spondyloepimetaphyseal dysplasia, sponastrime type10.1
37borjeson-forssman-lehmann syndrome10.1
38distal arthrogryposis10.1
39arterial tortuosity syndrome10.1
40fibular hypoplasia and complex brachydactyly10.1
41progeria10.1
42spondyloepimetaphyseal dysplasia, strudwick type10.1
43schmid metaphyseal chondrodysplasia10.1
44acromesomelic dysplasia, hunter-thompson type10.1
45albright's hereditary osteodystrophy10.1
46spondyloepimetaphyseal dysplasia, missouri type10.1
47kniest dysplasia10.1
48thrombocytopenia-absent radius syndrome10.1
49smith-lemli-opitz syndrome10.1
50diastrophic dysplasia10.1

Graphical network of the top 20 diseases related to Legg-Calve-Perthes Disease:



Diseases related to legg-calve-perthes disease

Symptoms for Legg-Calve-Perthes Disease

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

150600

Clinical features from OMIM:

150600

Symptoms:

50 (show all 9)
  • short stature/dwarfism/nanism
  • polygenic/multifactorial inheritance
  • cartilage destruction/chondrolysis
  • joint/articular deformation
  • articular/joint pain/arthralgia
  • osteonecrosis/bone infarction
  • delayed bone age
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis

Drugs & Therapeutics for Legg-Calve-Perthes Disease

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Legg-Calve-Perthes Disease

Drug clinical trials:

Search ClinicalTrials for Legg-Calve-Perthes Disease

Search NIH Clinical Center for Legg-Calve-Perthes Disease

Search CenterWatch for Legg-Calve-Perthes Disease

Genetic Tests for Legg-Calve-Perthes Disease

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23GTR
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Genetic tests related to Legg-Calve-Perthes Disease:

id Genetic test Affiliating Genes
1 Coxa Plana23

Anatomical Context for Legg-Calve-Perthes Disease

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Sources:
34MalaCards, 15FMA
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MalaCards organs/tissues related to Legg-Calve-Perthes Disease:

34
Bone

FMA organs/tissues related to Legg-Calve-Perthes Disease:

15
Hip joint

Animal Models for Legg-Calve-Perthes Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Legg-Calve-Perthes Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9COL2A1, SERPINC1, SERPINE1, THBD
2MP:00053708.1PHIP, F5, COL2A1, SERPINC1, SERPINE1, THBD
3MP:00053858.0THBD, SERPINE1, SERPINC1, COL2A1, F5, PHIP
4MP:00107687.2THBD, SERPINE1, SERPINC1, COL2A1, ERC1, F5

Publications for Legg-Calve-Perthes Disease

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Sources:
53PubMed
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Articles related to Legg-Calve-Perthes Disease:

(show top 50)    (show all 83)
idTitleAuthorsYear
1
Local delivery of recombinant human bone morphogenetic proteins and bisphosphonate via sucrose acetate isobutyrate can prevent femoral head collapse in Legg-Calve-Perthes disease: a pilot study in pigs. (24389948)
2014
2
Management of Legg-Calve-Perthes disease with acupuncture: a case report. (23234840)
2013
3
Diffusion MRI of the neck of the femur in Legg-Calve-Perthes disease: a preliminary study. (23206418)
2013
4
Combined osteotomy in patients with severe Legg-Calve-Perthes disease. (23451451)
2012
5
Natural history of early onset and late-onset Legg-Calve-Perthes disease. (21857430)
2011
6
Serum prolidase activity and oxidative-antioxidative status in Legg-Calve-Perthes disease. (21304409)
2011
7
Femoral varus osteotomy in Legg-Calve-Perthes disease. (21857437)
2011
8
Legg-Calve-Perthes disease centenary. (21857425)
2011
9
Potential for bisphosphonate treatment in Legg-Calve-Perthes disease. (21857436)
2011
10
Prognosis and prognostic factors of Legg-Calve-Perthes disease. (21857429)
2011
11
Legg-Calve-Perthes disease in a patient with Albright hereditary osteodystrophy: a case report. (20124073)
2010
12
Legg-Calve-Perthes disease and risks for cardiovascular diseases and blood diseases. (20439602)
2010
13
Triple pelvic osteotomy in Legg-Calve-Perthes disease using a single anterolateral incision: a 4-year review. (20386118)
2010
14
Varus producing osteotomy for patients with lateral pillar type B and C Legg-Calve-Perthes disease followed to skeletal maturity. Castaneda et al. JCOR (2008), 2:373-379. (19308615)
2009
15
Triple pelvic osteotomy in the treatment of Legg-Calve-Perthes disease. (19301002)
2009
16
Coxa magna quantification using MRI in Legg-Calve-Perthes disease. (18992975)
2009
17
MRI of Legg-Calve-Perthes disease. (19843759)
2009
18
Thrombomodulin and GFC levels in Legg-Calve-Perthes disease. (19055859)
2008
19
Sagittal spinal alignment in patients with Legg-Calve-Perthes disease. (17875086)
2007
20
Interruption of the blood supply of femoral head: an experimental study on the pathogenesis of Legg-Calve-Perthes Disease. (17598118)
2007
21
Outcome of cheilectomy in Legg-Calve-Perthes disease: minimum 25-year follow-up of five patients. (16557136)
2006
22
Reliability of radiological classifications used in Legg-Calve-Perthes disease. (16751735)
2006
23
Protein C levels in patients with Legg-Calve-Perthes disease: is it a true deficiency? (16557135)
2006
24
Residual shortening after Legg-Calve-Perthes disease, focusing on the response of the ipsilateral tibia. (15832141)
2005
25
Automated analysis of MR image of hip: geometrical evaluation of the Legg-Calve-Perthes disease. (15863350)
2005
26
Enhanced tissue factor pathway inhibitor response as a defense mechanism against ongoing local microvascular events of Legg-Calve-Perthes disease. (16020129)
2005
27
Usefulness of epiphyseal quotient measurement on magnetic resonance images for outcome prediction in patients with early-stage Legg-Calve-Perthes disease. (15577302)
2005
28
Arthroscopic findings of the hip in new onset hip pain in adolescents with previous Legg-Calve-Perthes disease. (15812283)
2005
29
The correlation between coxa magna and final outcome in Legg-Calve-Perthes disease. (15614054)
2005
30
Legg-Calve-Perthes disease. Part I: Classification of radiographs with use of the modified lateral pillar and Stulberg classifications. (15466719)
2004
31
Legg-Calve-Perthes disease and thrombophilia. (15590848)
2004
32
Treatment of the collapsed femoral head by containment in Legg-Calve-Perthes disease. (12499936)
2003
33
Avascular necrosis of the femoral heads in a red panda (Ailurus fulgens fulgens): possible Legg-Calve-Perthes disease. (12462497)
2002
34
Hip arthroscopy in Legg-Calve-Perthes disease. (10024039)
1999
35
Legg-Calve-Perthes Disease: Imaging Evaluation and Management. (11388931)
1999
36
Legg-Calve-Perthes Disease. (10790676)
1996
37
Legg-Calve-Perthes disease: clinical analysis of 57 cases. (1982536)
1990
38
Legg-Calve-Perthes disease associated with hereditary multiple exostosis: a case report. (306501)
1978
39
A study of the radiographic and histological changes occurring in Legg-Calve-Perthes disease (LCP) in the dog. (5531150)
1970
40
Minimal Legg-Calve-Perthes disease. (5241837)
1968
41
Developmental variation in epiphyseogenesis of the femoral head on the unaffected hip in unilateral Legg-Calve-Perthes disease. (5247151)
1968
42
The results of treatment in Legg-Calve-Perthes disease using a Thomas splint. (4870483)
1967
43
Hereditary Legg-Calve-Perthes disease. (13998760)
1963
44
Experimental production in the rabbit of coxa plana: a lesion resembling Legg-Calve-Perthes disease in man. (13950195)
1963
45
Legg-Calve-Perthes disease: the roentgenologic changes with therapy in forty patients. (14486234)
1962
46
Inherited vascular pattern of the femoral head and neck as a predisposing factor to Legg-Calve-Perthes disease. (13932250)
1962
47
Osteochondritis dissecans following Legg-Calve-Perthes disease. A report of one case. (13849850)
1960
48
Legg-Calve-Perthes disease. (13807159)
1960
49
The deformity in Legg-Calve-Perthes disease. (13716060)
1960
50
New Treatment for Bilateral Legg-Calve-Perthes Disease. (20326173)
1960

Variations for Legg-Calve-Perthes Disease

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Legg-Calve-Perthes Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1COL2A1NM_001844.4(COL2A1): c.3508G> A (p.Gly1170Ser)single nucleotide variantPathogenicrs121912891GRCh37Chr 12, 48369835: 48369835

Expression for genes affiliated with Legg-Calve-Perthes Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Legg-Calve-Perthes Disease

Search GEO for disease gene expression data for Legg-Calve-Perthes Disease.

Pathways for genes affiliated with Legg-Calve-Perthes Disease

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Sources:
51PathCards, 13EMD Millipore, 56Reactome, 54QIAGEN, 39NCBI BioSystems Database, 55R&D Systems, 31KEGG
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Compounds for genes affiliated with Legg-Calve-Perthes Disease

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Sources:
46Novoseek, 12DrugBank, 52PharmGKB, 25HMDB, 3BitterDB, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Legg-Calve-Perthes Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 87)
idCompoundScoreTop Affiliating Genes
1sarpogrelate hydrochloride4610.1SERPINC1, THBD
2fibrinopeptide a4610.0SERPINC1, THBD
3inogatran4610.0SERPINC1, F5
4ecarin4610.0F5, SERPINC1
5spectrozyme4610.0SERPINC1, F5
6danaparoid469.9SERPINC1, F5
7nafamostat mesilate469.9F5, SERPINC1
8eaca469.9SERPINC1, SERPINE1
9paricalcitol46 1210.8SERPINE1, THBD
10p-amino benzamidine469.8SERPINC1, SERPINE1
11batroxobin469.8F5, SERPINE1
12hirugen469.7THBD, F5, SERPINC1
13ximelagatran46 1210.7F5, THBD, SERPINC1
14heparinoids469.7THBD, SERPINC1, F5
15fondaparinux469.7SERPINC1, F5, THBD
16bivalirudin46 1210.7THBD, SERPINC1, F5
17argatroban46 1210.7F5, THBD, SERPINC1
18benzamidine46 1210.7SERPINC1, F5, THBD
1911-dehydrothromboxane b2469.7THBD, SERPINE1
20dermatan sulfate469.7F5, THBD, SERPINC1
21warfarin46 52 25 1212.7SERPINC1, THBD, F5
22glycosaminoglycan469.6COL2A1, THBD, SERPINC1
23desogestrel46 1210.6F5, SERPINC1
24gabexate mesilate469.6F5, SERPINC1
25mycophenolate mofetil46 52 1211.6SERPINE1, F5, THBD
26polyethylene glycol469.5THBD, F5, SERPINC1
27pge1469.5F5, THBD, SERPINE1
28tibolone469.5SERPINE1, SERPINC1, F5
29protamine469.5F5, SERPINE1, SERPINC1
30ascorbic acid46 2510.4COL2A1, SERPINC1, F5, THBD
31progestin469.4SERPINE1, SERPINC1, F5
32chloramphenicol46 3 52 1212.3SERPINC1, SERPINE1, THBD, COL2A1
33atorvastatin46 52 30 25 1213.3THBD, F5, SERPINE1
34ancrod469.2SERPINC1, SERPINE1, THBD, F5
35desmopressin46 62 30 1212.2F5, SERPINE1, THBD, SERPINC1
36hirudin469.2THBD, SERPINE1, SERPINC1, F5
37kininogen469.2F5, THBD, SERPINE1, SERPINC1
38aprotinin46 1210.2THBD, F5, SERPINC1, SERPINE1
39homocysteine46 2510.2SERPINE1, F5, SERPINC1, THBD
40prostacyclin469.2SERPINE1, SERPINC1, F5, THBD
41fibrinogen469.1F5, THBD, SERPINE1, SERPINC1
42alanine469.0SERPINC1, THBD, PEPD, F5, COL2A1
43aspartate469.0COL2A1, SERPINE1, THBD, F5
44citrate469.0F5, SERPINC1, THBD
45raloxifene46 52 30 1211.9THBD, SERPINE1, SERPINC1, F5, PEPD
46aspirin46 52 30 2511.9PEPD, THBD, F5, SERPINE1, SERPINC1
47creatinine468.8SERPINE1, F5, PEPD, SERPINC1, THBD
48heparin46 30 25 1211.7SERPINC1, SERPINE1, THBD, F5
49estrogen468.6F5, PEPD, SERPINC1, THBD, SERPINE1
50serine468.5COL2A1, SERPINC1, SERPINE1, F5, THBD, PEPD

GO Terms for genes affiliated with Legg-Calve-Perthes Disease

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17Gene Ontology
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Cellular components related to Legg-Calve-Perthes Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.2SERPINE1, F5
2extracellular spaceGO:0056158.1F5, COL2A1, ACTG2, SERPINC1, SERPINE1, THBD
3plasma membraneGO:0058867.4F5, STAG2, AMIGO2, SERPINC1, SERPINE1, THBD

Biological processes related to Legg-Calve-Perthes Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of blood coagulationGO:0301959.6SERPINE1, THBD
2negative regulation of fibrinolysisGO:0519189.5SERPINE1, THBD
3blood coagulationGO:0075968.5F5, SERPINC1, SERPINE1, THBD

Molecular functions related to Legg-Calve-Perthes Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.4PHIP, F5, ERC1, STAG2, AMIGO2, SERPINC1

Products for genes affiliated with Legg-Calve-Perthes Disease

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Legg-Calve-Perthes Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet