MCID: LGG001
MIFTS: 58

Legg-Calve-Perthes Disease malady

Genetic diseases, Rare diseases, Bone diseases categories

Aliases & Classifications for Legg-Calve-Perthes Disease

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 11DISEASES, 60UMLS, 22GTR, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 55SNOMED-CT, 33MeSH, 38NCIt, 61UMLS via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Legg-Calve-Perthes Disease, Aliases & Descriptions:

Name: Legg-Calve-Perthes Disease 45 9 10 41 11 60
Perthes Disease 9 41 21 43 47
Legg-Calvé-Perthes Disease 41 21 47
Coxa Plana 9 41 22
Aseptic Necrosis of the Capital Femoral Epiphysis 41 47
Osteochondritis of the Capital Femoral Epiphysis 41 47
Osteochondrosis of the Capital Femoral Epiphysis 41 47
Lcpd 41 21
Avascular Necrosis of the Capital Femoral Epiphysis 60
Juvenile Osteochondrosis of Hip and/or Pelvis 9
 
Juvenile Osteochondrosis of Hip and Pelvis 9
Osteochondrosis of Legg-Calve-Perthes 9
Juvenile Osteochond-Hip/pelvis 9
Legg-Calve-Perthes Syndrome 41
Osteochondritis Deformans 41
Calve - Perthes' Disease 9
Calve-Perthes Disease 21
Perthe's Disease 9
Pseudocoxalgia 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases
Orphanet: 47 
Rare bone diseases


Characteristics (Orphanet epidemiological data):

47
perthes disease:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM45 150600
Disease Ontology9 DOID:14415
MeSH33 D007873
NCIt38 C34766
Orphanet47 2380
UMLS via Orphanet61 C0023234
ICD10 via Orphanet26 M91.1
ICD1025 M91, M91.2, M91.3

Summaries for Legg-Calve-Perthes Disease

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NIH Rare Diseases:41 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 based summary: Legg-Calve-Perthes Disease, also known as perthes disease, is related to osteogenesis imperfecta and thrombophilia, and has symptoms including abnormality of the teeth, delayed skeletal maturation and arthralgia. 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.

Genetics Home Reference:21 Legg-Calvé-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calvé-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls.

OMIM:45 Legg-Calve-Perthes disease is characterized by loss of circulation to the femoral head, resulting in avascular necrosis... (150600) more...

Related Diseases for Legg-Calve-Perthes Disease

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Diseases related to Legg-Calve-Perthes Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 272)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta30.5COL2A1, PEPD
2thrombophilia30.1SERPINC1, THBD, SERPINE1, F5
3protein c deficiency29.9F5, THBD, SERPINE1, SERPINC1
4osteochondritis dissecans10.7
5upington disease10.6
6cerebral palsy10.4AMIGO2
7avascular necrosis of the femoral head10.4
8osteochondrosis10.4
9exostosis10.4
10synovitis10.4
11pandas10.4
12slipped capital femoral epiphysis10.4
13sneddon syndrome10.4SERPINC1
14central retinal vein occlusion10.4F5
15multiple epiphyseal dysplasia10.4
16branch retinal artery occlusion10.4F5
17purpura10.3SERPINC1
18factor xi deficiency, autosomal recessive10.3F5
19collagen disease10.3THBD, COL2A1
20eclampsia10.3SERPINC1, THBD
21carotid artery thrombosis10.3SERPINE1
22vascular disease10.2THBD, SERPINC1
23achondroplasia10.2
24osteoarthritis10.2
25thyroiditis10.2
26post-thrombotic syndrome10.1SERPINC1, F5
27placental abruption10.1F5, SERPINC1
28hypoprothrombinemia10.1F5, SERPINC1
29budd-chiari syndrome10.1F5, SERPINC1
30sagittal sinus thrombosis10.1F5, SERPINC1
31retinal vein occlusion10.1SERPINC1, F5
32blood protein disease10.1F5, SERPINC1
33intracranial thrombosis10.1F5, SERPINC1
34ehlers-danlos syndrome, type vi10.1
35schwartz-jampel syndrome, type 110.1
36epiphyseal dysplasia, multiple, 210.1
37thrombocytopenia-absent radius syndrome10.1
38chromosome 1q21.1 duplication syndrome10.1
39epiphyseal dysplasia, multiple, 510.1
40ehlers-danlos syndrome, type iii10.1
41acrocapitofemoral dysplasia10.1
42robinow syndrome, autosomal dominant10.1
43orotic aciduria10.1
44spondylometaphyseal dysplasia with cone-rod dystrophy10.1
45thanatophoric dysplasia, type i10.1
46hip dysplasia, beukes type10.1
47short syndrome10.1
48marinesco-sjogren syndrome10.1
49diastrophic dysplasia10.1
50epiphyseal dysplasia, multiple, 410.1

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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Symptoms by clinical synopsis from OMIM:

150600

Clinical features from OMIM:

150600

Symptoms:

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

HPO human phenotypes related to Legg-Calve-Perthes Disease:

(show all 10)
id Description Frequency HPO Source Accession
1 abnormality of the teeth hallmark (90%) HP:0000164
2 delayed skeletal maturation hallmark (90%) HP:0002750
3 arthralgia hallmark (90%) HP:0002829
4 amyotrophy hallmark (90%) HP:0003202
5 short stature hallmark (90%) HP:0004322
6 aseptic necrosis hallmark (90%) HP:0010885
7 cartilage destruction hallmark (90%) HP:0100773
8 delayed skeletal maturation HP:0002750
9 short stature HP:0004322
10 avascular necrosis of the capital femoral epiphysis HP:0005743

Drugs & Therapeutics for Legg-Calve-Perthes Disease

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Drug clinical trials:

Search ClinicalTrials for Legg-Calve-Perthes Disease

Search NIH Clinical Center for Legg-Calve-Perthes Disease

Genetic Tests for Legg-Calve-Perthes Disease

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Genetic tests related to Legg-Calve-Perthes Disease:

id Genetic test Affiliating Genes
1 Coxa Plana22

Anatomical Context for Legg-Calve-Perthes Disease

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

31
Bone

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

14
Hip joint

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

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

35
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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Articles related to Legg-Calve-Perthes Disease:

(show top 50)    (show all 93)
idTitleAuthorsYear
1
TAPnnis triple pelvic osteotomy for Legg-Calve-Perthes disease. (25417791)
2015
2
Guided growth of the trochanteric apophysis combined with soft tissue release for Legg-Calve-Perthes disease. (24563149)
2014
3
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
4
"Femoroacetabular impingement". Legg-Calve-Perthes disease: from childhood to adulthood. (25217031)
2014
5
Increased soluble selectins as a reflection of activated platelets and endothelium in Legg-Calve-Perthes disease. (25000467)
2014
6
Management of Legg-Calve-Perthes disease with acupuncture: a case report. (23234840)
2013
7
Diffusion MRI of the neck of the femur in Legg-Calve-Perthes disease: a preliminary study. (23206418)
2013
8
Combined osteotomy in patients with severe Legg-Calve-Perthes disease. (23451451)
2012
9
Natural history of early onset and late-onset Legg-Calve-Perthes disease. (21857430)
2011
10
Serum prolidase activity and oxidative-antioxidative status in Legg-Calve-Perthes disease. (21304409)
2011
11
Femoral varus osteotomy in Legg-Calve-Perthes disease. (21857437)
2011
12
Legg-Calve-Perthes disease centenary. (21857425)
2011
13
Potential for bisphosphonate treatment in Legg-Calve-Perthes disease. (21857436)
2011
14
Legg-Calve-Perthes disease in a patient with Albright hereditary osteodystrophy: a case report. (20124073)
2010
15
Legg-Calve-Perthes disease and risks for cardiovascular diseases and blood diseases. (20439602)
2010
16
Triple pelvic osteotomy in Legg-Calve-Perthes disease using a single anterolateral incision: a 4-year review. (20386118)
2010
17
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
18
Triple pelvic osteotomy in the treatment of Legg-Calve-Perthes disease. (19301002)
2009
19
Coxa magna quantification using MRI in Legg-Calve-Perthes disease. (18992975)
2009
20
MRI of Legg-Calve-Perthes disease. (19843759)
2009
21
Thrombomodulin and GFC levels in Legg-Calve-Perthes disease. (19055859)
2008
22
Sagittal spinal alignment in patients with Legg-Calve-Perthes disease. (17875086)
2007
23
Interruption of the blood supply of femoral head: an experimental study on the pathogenesis of Legg-Calve-Perthes Disease. (17598118)
2007
24
Outcome of cheilectomy in Legg-Calve-Perthes disease: minimum 25-year follow-up of five patients. (16557136)
2006
25
Reliability of radiological classifications used in Legg-Calve-Perthes disease. (16751735)
2006
26
Protein C levels in patients with Legg-Calve-Perthes disease: is it a true deficiency? (16557135)
2006
27
Residual shortening after Legg-Calve-Perthes disease, focusing on the response of the ipsilateral tibia. (15832141)
2005
28
Automated analysis of MR image of hip: geometrical evaluation of the Legg-Calve-Perthes disease. (15863350)
2005
29
Enhanced tissue factor pathway inhibitor response as a defense mechanism against ongoing local microvascular events of Legg-Calve-Perthes disease. (16020129)
2005
30
Usefulness of epiphyseal quotient measurement on magnetic resonance images for outcome prediction in patients with early-stage Legg-Calve-Perthes disease. (15577302)
2005
31
Arthroscopic findings of the hip in new onset hip pain in adolescents with previous Legg-Calve-Perthes disease. (15812283)
2005
32
The correlation between coxa magna and final outcome in Legg-Calve-Perthes disease. (15614054)
2005
33
Legg-Calve-Perthes disease. Part I: Classification of radiographs with use of the modified lateral pillar and Stulberg classifications. (15466719)
2004
34
Legg-Calve-Perthes disease and thrombophilia. (15590848)
2004
35
Treatment of the collapsed femoral head by containment in Legg-Calve-Perthes disease. (12499936)
2003
36
Avascular necrosis of the femoral heads in a red panda (Ailurus fulgens fulgens): possible Legg-Calve-Perthes disease. (12462497)
2002
37
Hip arthroscopy in Legg-Calve-Perthes disease. (10024039)
1999
38
Legg-Calve-Perthes Disease: Imaging Evaluation and Management. (11388931)
1999
39
Legg-Calve-Perthes disease: clinical analysis of 57 cases. (1982536)
1990
40
Legg-Calve-Perthes disease associated with hereditary multiple exostosis: a case report. (306501)
1978
41
A study of the radiographic and histological changes occurring in Legg-Calve-Perthes disease (LCP) in the dog. (5531150)
1970
42
Minimal Legg-Calve-Perthes disease. (5241837)
1968
43
The results of treatment in Legg-Calve-Perthes disease using a Thomas splint. (4870483)
1967
44
Hereditary Legg-Calve-Perthes disease. (13998760)
1963
45
Experimental production in the rabbit of coxa plana: a lesion resembling Legg-Calve-Perthes disease in man. (13950195)
1963
46
Legg-Calve-Perthes disease: the roentgenologic changes with therapy in forty patients. (14486234)
1962
47
Inherited vascular pattern of the femoral head and neck as a predisposing factor to Legg-Calve-Perthes disease. (13932250)
1962
48
Osteochondritis dissecans following Legg-Calve-Perthes disease. A report of one case. (13849850)
1960
49
Legg-Calve-Perthes disease. (13807159)
1960
50
The deformity in Legg-Calve-Perthes disease. (13716060)
1960

Variations for Legg-Calve-Perthes Disease

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Clinvar genetic disease variations for Legg-Calve-Perthes Disease:

6
id Gene Variation 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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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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Pathways related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0THBD, SERPINC1, COL2A1, F5
2
Show member pathways
8.8F5, SERPINC1, SERPINE1, THBD
3
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
8.8THBD, SERPINE1, SERPINC1, F5
4
Show member pathways
8.8THBD, F5, SERPINC1, SERPINE1

Compounds for genes affiliated with Legg-Calve-Perthes Disease

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Compounds related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 87)
idCompoundScoreTop Affiliating Genes
1sarpogrelate hydrochloride4310.1SERPINC1, THBD
2fibrinopeptide a4310.0SERPINC1, THBD
3inogatran4310.0SERPINC1, F5
4ecarin4310.0F5, SERPINC1
5spectrozyme4310.0SERPINC1, F5
6danaparoid439.9SERPINC1, F5
7nafamostat mesilate439.9F5, SERPINC1
8eaca439.9SERPINC1, SERPINE1
9paricalcitol43 1210.8SERPINE1, THBD
10p-amino benzamidine439.8SERPINC1, SERPINE1
11batroxobin439.8F5, SERPINE1
12hirugen439.7THBD, F5, SERPINC1
13ximelagatran43 1210.7F5, THBD, SERPINC1
14heparinoids439.7THBD, SERPINC1, F5
15fondaparinux439.7SERPINC1, F5, THBD
16bivalirudin43 1210.7THBD, SERPINC1, F5
17argatroban43 1210.7F5, THBD, SERPINC1
18benzamidine43 1210.7SERPINC1, F5, THBD
1911-dehydrothromboxane b2439.7THBD, SERPINE1
20dermatan sulfate439.7F5, THBD, SERPINC1
21warfarin43 49 24 1212.7SERPINC1, THBD, F5
22glycosaminoglycan439.6COL2A1, THBD, SERPINC1
23desogestrel43 1210.6F5, SERPINC1
24gabexate mesilate439.6F5, SERPINC1
25mycophenolate mofetil43 49 1211.6SERPINE1, F5, THBD
26polyethylene glycol439.5THBD, F5, SERPINC1
27pge1439.5F5, THBD, SERPINE1
28tibolone439.5SERPINE1, SERPINC1, F5
29protamine439.5F5, SERPINE1, SERPINC1
30ascorbic acid43 2410.4COL2A1, SERPINC1, F5, THBD
31progestin439.4SERPINE1, SERPINC1, F5
32chloramphenicol43 2 49 1212.3SERPINC1, SERPINE1, THBD, COL2A1
33atorvastatin43 49 28 24 1213.3THBD, F5, SERPINE1
34ancrod439.2SERPINC1, SERPINE1, THBD, F5
35desmopressin43 59 28 1212.2F5, SERPINE1, THBD, SERPINC1
36hirudin439.2THBD, SERPINE1, SERPINC1, F5
37kininogen439.2F5, THBD, SERPINE1, SERPINC1
38aprotinin43 1210.2THBD, F5, SERPINC1, SERPINE1
39homocysteine43 2410.2SERPINE1, F5, SERPINC1, THBD
40prostacyclin439.2SERPINE1, SERPINC1, F5, THBD
41fibrinogen439.1F5, THBD, SERPINE1, SERPINC1
42alanine439.0SERPINC1, THBD, PEPD, F5, COL2A1
43aspartate439.0COL2A1, SERPINE1, THBD, F5
44citrate439.0F5, SERPINC1, THBD
45raloxifene43 49 28 1211.9THBD, SERPINE1, SERPINC1, F5, PEPD
46aspirin43 49 28 2411.9PEPD, THBD, F5, SERPINE1, SERPINC1
47creatinine438.8SERPINE1, F5, PEPD, SERPINC1, THBD
48heparin43 28 24 1211.7SERPINC1, SERPINE1, THBD, F5
49estrogen438.6F5, PEPD, SERPINC1, THBD, SERPINE1
50serine438.5COL2A1, SERPINC1, SERPINE1, F5, THBD, PEPD

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

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Cellular components related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.2F5, SERPINE1
2extracellular spaceGO:00056158.1F5, COL2A1, ACTG2, SERPINC1, SERPINE1, THBD
3plasma membraneGO:00058867.4AMIGO2, SERPINC1, SERPINE1, THBD, F5, STAG2

Biological processes related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of blood coagulationGO:00301959.6SERPINE1, THBD
2negative regulation of fibrinolysisGO:00519189.5SERPINE1, THBD
3blood coagulationGO:00075968.5F5, SERPINC1, SERPINE1, THBD

Molecular functions related to Legg-Calve-Perthes Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055156.4PHIP, F5, ERC1, STAG2, AMIGO2, SERPINC1

Products for genes affiliated with Legg-Calve-Perthes Disease

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Sources for Legg-Calve-Perthes Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet