MCID: LGG001
MIFTS: 56

Legg-Calve-Perthes Disease malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Legg-Calve-Perthes Disease

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 12DISEASES, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 24GTR, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
See all MalaCards sources

Aliases & Descriptions for Legg-Calve-Perthes Disease:

Name: Legg-Calve-Perthes Disease 49 10 11 45 12 67 36 65
Perthes Disease 10 45 23 47 51 67
Coxa Plana 10 45 24
Lcpd 45 23 67
Legg-Calvé-Perthes Disease 23 51
Avascular Necrosis of the Capital Femoral Epiphysis 65
Aseptic Necrosis of the Capital Femoral Epiphysis 51
Osteochondrosis of the Capital Femoral Epiphysis 51
Osteochondritis of the Capital Femoral Epiphysis 51
Juvenile Osteochondrosis of Hip and/or Pelvis 10
Juvenile Osteochondrosis of Hip and Pelvis 10
 
Osteochondrosis of Legg-Calve-Perthes 10
Juvenile Osteochond-Hip/pelvis 10
Legg-Calve-Perthes Syndrome 45
Legg-Calve-Perthes Symptom 10
Osteochondritis Deformans 45
Calve - Perthes' Disease 10
Calve-Perthes Disease 23
Legg-Perthes Disease 67
Perthe's Disease 10
Pseudocoxalgia 10

Characteristics:

Orphanet epidemiological data:

51
perthes disease:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Age of onset: Childhood; Age of death: normal life expectancy

Classifications:



External Ids:

OMIM49 150600
Disease Ontology10 DOID:14415
ICD1027 M91.2, M91.3, M91
MeSH36 D007873
NCIt42 C34766
Orphanet51 2380
ICD10 via Orphanet28 M91.1
UMLS via Orphanet66 C0023234
MedGen34 C0023234
UMLS65 C0022441, C0023234, C1442965

Summaries for Legg-Calve-Perthes Disease

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NIH Rare Diseases:45 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 thyroid cancer and garret tripp syndrome, and has symptoms including cartilage destruction, short stature and skeletal muscle atrophy. An important gene associated with Legg-Calve-Perthes Disease is COL2A1 (Collagen Type II Alpha 1), and among its related pathways are Cell adhesion_ECM remodeling and Malaria. Affiliated tissues include hip joint, bone and skeletal muscle, and related mouse phenotypes are embryo and respiratory system.

Disease Ontology:10 An osteochondrosis that results in death and fracture located in hip joint.

UniProtKB/Swiss-Prot:67 Legg-Calve-Perthes disease: 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 collapse, and repair and remodeling of the bone.

Genetics Home Reference:23 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:49 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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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:

 51 (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 9)
id Description Frequency HPO Source Accession
1 cartilage destruction hallmark (90%) HP:0100773
2 short stature hallmark (90%) HP:0004322
3 skeletal muscle atrophy hallmark (90%) HP:0003202
4 arthralgia hallmark (90%) HP:0002829
5 delayed skeletal maturation hallmark (90%) HP:0002750
6 abnormality of the teeth hallmark (90%) HP:0000164
7 avascular necrosis of the capital femoral epiphysis HP:0005743
8 short stature HP:0004322
9 delayed skeletal maturation HP:0002750

Drugs & Therapeutics for Legg-Calve-Perthes Disease

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Drugs for Legg-Calve-Perthes Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Triamcinoloneapproved448124-94-731307
Synonyms:
(8S,9R,10S,11S,13S,14S,16R,17S)-9-fluoro-11,16,17-trihydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,11,12,14,15,16-octahydrocyclopenta[a]phenanthren-3-one
11-beta,16-alpha,17-alpha,21-Tetrahydroxy-9-alpha-fluoro-1,4-pregnadiene-3,20-dione
11.Beta.,16.alpha.,17.alpha., 21-Tetrahydroxy-9.alpha.-fluoro-1,4-pregnadiene-3,20-dione
11.beta.,16.alpha.,17.alpha.,21-Tetrahydroxy-9.alpha.-fluoro-1,4-pregnadiene-3,20-dione
11beta,16alpha,17alpha,21-Tetrahydroxy-9alpha-fluoro-1,4-pregnadiene-3,20-dione
124-94-7
4-08-00-03629 (Beilstein Handbook Reference)
83474-03-7
9-Fluoro-11,16,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9-Fluoro-11beta,16alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9-alpha-Fluoro-11-beta,16-alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9-alpha-Fluoro-16-alpha-hydroxyprednisolone
9.Alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahy
9.Alpha.-Fluoro-11.beta.,16.alpha.,17.alpha., 21-tetrahydroxypregna-1,4-diene-3,20-d
9.alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahydroxy-1,4-pregnadiene-3,20-dione
9.alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9.alpha.-Fluoro-11.beta.,16.alpha.,17.alpha.,21-tetrahydroxypregna-1,4-diene-3,20-dione
9.alpha.-Fluoro-16.alpha.-hydroxyprednisolone
9alpha-Fluoro-11beta,16alpha,17,21-tetrahydroxy-1,4-pregnadiene-3,20-dione
9alpha-Fluoro-11beta,16alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9alpha-Fluoro-11beta,16alpha,17alpha,21-tetrahydroxypregna-1,4-diene-3,20-dione
9alpha-Fluoro-16alpha-hydroxyprednisolone
9α-fluoro-16α-hydroxyprednisolone
AC-2072
AC1L1LDH
AC1Q5HJC
Adcortyl
Allernaze
Aristocort
Aristocort A
Aristocort Tablets
Aristogel
Aristospan
Azmacort
BPBio1_000154
BRD-K77554836-001-03-3
BRN 2341955
BSPBio_000140
Bio-0662
C21H27FO6
CHEMBL1451
CID31307
CL 19823
Celeste
Cinolone
Cinolone-T
D00385
D014221
DB00620
Delphicort
EINECS 204-718-7
EU-0101179
Fluoxiprednisolone
Fluoxyprednisolone
Flutex
Fougera
HMS1568G22
HMS2090D12
HSDB 3194
Kenacort
Kenacort (TN)
Kenacort-A
Kenacort-AG
Kenacort-Ag
Kenalog
Kenalog in Orabase
Kenalog-10
Kenalog-40
Kenalog-H
LS-698
Ledercort
Lopac0_001179
MLS000028542
MLS001066543
 
MLS002695935
MolPort-002-528-981
Mycolog
NCGC00021580-03
NCGC00021580-04
NCGC00021580-05
NCGC00021580-06
NCGC00021580-07
NCI60_000750
NSC 13397
NSC13397
Nasacort
Nasacort Aq
Nasacort Hfa
Omcilon
Omicilon
Oracort
Oralone
Orion
Polcortolon
Pregna-1,4-diene-3,20-dio
Pregna-1,4-diene-3,20-dione, 9-fluoro-11,16,17,21-tetrahydroxy-, (11beta,16alpha)
Pregna-1,4-diene-3,20-dione, 9-fluoro-11beta,16alpha,17,21-tetrahydroxy- (8CI)
Prestwick0_000120
Prestwick1_000120
Prestwick2_000120
Prestwick3_000120
Prestwick_438
Rodinolone
S1933_Selleck
SK-Triamcinolone
SMP1_000300
SMR000058333
SPBio_002079
Sk-Triamcinolone
T6376_SIGMA
TRIAMCINOLONE (SEE ALSO TRIAMCINOLONE ACETONIDE (76-25-5) AND TRIAMCINOLONE DIACETATE (67-78-7))
Tiamcinolonum
Tiamcinolonum [INN-Latin]
Tri-Nasal
Triacet
Triacort
Triam-Tablinen
Triamcet
Triamcinalone
Triamcinlon
Triamcinolon
Triamcinolona
Triamcinolona [INN-Spanish]
Triamcinolone (JP15/USP/INN)
Triamcinolone Acetonide
Triamcinolone [USAN:INN:BAN:JAN]
Triamcinolone acetonide
Triamcinolone diacetate
Triamcinolone hexacetonide
Triamcinolonum
Triamcinolonum [INN]
Trianex
Triatex
Tricortale
Triderm
Triesence
Trilone
Tristoject
Trymex
UNII-1ZK20VI6TY
Vetalog
Volon
Volon A
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ GQ
ZINC03882036
droxypregna-1,4-diene-3,20-dione
ione
nchembio.2007.53-comp7
triamcinolone
2
Vitamin Eapproved, nutraceutical37159-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
3Tocopherols376
4Vitamins3857
5Tocotrienols372
6Immunosuppressive Agents10422
7triamcinolone acetonide448
8Triamcinolone diacetate448
9Triamcinolone hexacetonide448
10Immunologic Factors18483
11Hormone Antagonists10002
12Anti-Inflammatory Agents8478
13glucocorticoids3896
14Hormones, Hormone Substitutes, and Hormone Antagonists9988
15Hormones11748
16TocotrienolNutraceutical372
17TocopherolNutraceutical376

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Randomised Multi-centre Study to Compare the Long-term Performance of the Future Hip to 3 Other Implants in Primary Total Hip ReplacementTerminatedNCT00208468Phase 3
2The Long Term Outcome of Varus Derotational Osteotomy for Legg-Calvé-Perthes' DiseaseCompletedNCT02676271
3Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip DiseaseCompletedNCT01707433
4Multicenter Prospective Cohort Study on Current Treatments of Legg-Calvé-Perthes DiseaseRecruitingNCT02040714
5Evaluate E1 Wear, Clinical Performance of E1 Liner in THA in Korean Patient PopulationRecruitingNCT02087449
6Taperloc Complete Microplasty vs Taperloc Complete Standard: Randomized Controlled Study on Bone Mineral DensityActive, not recruitingNCT02087436
7The Effect of Perthes' Disease on Hip CartilageSuspendedNCT00958464
8Intraarticular Corticosteroid Therapy in Perthes Disease.TerminatedNCT01026909

Search NIH Clinical Center for Legg-Calve-Perthes Disease


Cochrane evidence based reviews: legg-calve-perthes disease

Genetic Tests for Legg-Calve-Perthes Disease

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Anatomical Context for Legg-Calve-Perthes Disease

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

33
Bone, Skeletal muscle, Breast, Skin, Liver, Colon, Prostate

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

16
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:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.8COL2A1, F5, PEPD, SERPINC1, THBD
2MP:00053888.0COL2A1, SELE, SELP, SERPINE1, THBD
3MP:00036317.8COL2A1, F5, PEPD, SELP, SERPINC1, THBD
4MP:00053677.6COL2A1, PEPD, SELP, SERPINC1, SERPINE1, THBD
5MP:00107717.5F5, PEPD, SELE, SELP, SERPINE1, THBD
6MP:00053707.2COL2A1, F5, SELE, SELP, SERPINC1, SERPINE1
7MP:00053877.0COL2A1, SELE, SELP, SERPINC1, SERPINE1, THBD
8MP:00053786.8COL2A1, F5, PEPD, SELE, SELP, SERPINE1
9MP:00053766.5COL2A1, F5, PEPD, SELE, SELP, SERPINC1
10MP:00107686.5COL2A1, F5, PEPD, SELE, SELP, SERPINC1
11MP:00053856.3COL2A1, F5, PEPD, SELE, SELP, SERPINC1

Publications for Legg-Calve-Perthes Disease

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Articles related to Legg-Calve-Perthes Disease:

(show top 50)    (show all 96)
idTitleAuthorsYear
1
IgG4-related orbital disease mass lesion. (27085284)
2016
2
6C.03: A CASE OF SEVERE HYPERALDOSTERONISM CAUSED BY A DE NOVO KCNJ5 MUTATION. (26102935)
2015
3
Enteric mucosa integrity in the presence of a preserved innate interleukin 22 compartment in HIV type 1-treated individuals. (24604817)
2014
4
Identification of both MT-RNR1 m.1555A>G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss. (24507663)
2014
5
The intracellular carboxyl terminal domain of Vangl proteins contains plasma membrane targeting signals. (24452931)
2014
6
A pan-cancer analysis of transcriptome changes associated with somatic mutations in U2AF1 reveals commonly altered splicing events. (24498085)
2014
7
Herpes simplex hepatitis after liver transplantation: case report and literature review. (24383552)
2014
8
Repressor element-1 silencing transcription factor (REST) is present in human control and Huntington's disease neurones. (24634989)
2014
9
A prospective randomized study comparing two different expander approaches in implant-based breast reconstruction: one stage versus two stages. (23542287)
2013
10
Ex Vivo Tolerogenic F4/80(+) antigen presenting cells (APC) induce efferent CD8(+) Treg cell dependent suppression of Experimental Autoimmune Uveitis. (24266626)
2013
11
Fine level epitope mapping and conservation analysis of two novel linear B-cell epitopes of the avian infectious bronchitis coronavirus nucleocapsid protein. (23123213)
2013
12
Parental Awareness and Coverage of Mass Measles Vaccination Drive 2011: Cross-Sectional Survey in the Metropolitan City of Karachi, Pakistan. (23165488)
2012
13
Electrophysiological evaluation in lumbosacral radiculopathy. (24250870)
2012
14
Inflammatory macrophages induce Nrf2 transcription factor-dependent proteasome activity in colonic NCM460 cells and thereby confer anti-apoptotic protection. (21990354)
2011
15
A single amino acid substitution in the C4 region in gp120 confers enhanced neutralization of HIV-1 by modulating CD4 binding sites and V3 loop. (21851958)
2011
16
Development of subacute cutaneous lupus erythematosus associated with the use of imiquimod to treat actinic keratoses. (20684157)
2010
17
Pulmonary metastases from parachordoma. (19632372)
2009
18
Histopathologic characteristics of choroidal melanoma in eyes enucleated after iodine 125 brachytherapy in the collaborative ocular melanoma study. (18268211)
2008
19
Coordinated induction of drug transporters and phase I and II metabolism in human liver slices. (18328680)
2008
20
Expression of p16INK4a and MIB-1 in relation to histopathology and HPV types in cervical adenocarcinoma. (18202755)
2008
21
Excessive gas exchange impairment during exercise in a subject with a history of bronchopulmonary dysplasia and high altitude pulmonary edema. (17394419)
2007
22
Alexithymia and interpersonal problems. (17016830)
2007
23
Ush1c216A knock-in mouse survives Katrina. (17174357)
2007
24
Dorsal simultanagnosia: An impairment of visual processing or visual awareness? (16909634)
2006
25
Skin grafting as a therapeutic approach in pretibially restricted junctional epidermolysis bullosa. (16403119)
2006
26
PAX2: a reliable marker for nephrogenic adenoma. (16400326)
2006
27
Vaccination with polysaccharide-conjugate-vaccines in adult patients with specific antibody deficiency. (16507328)
2006
28
Resistin regulates human choriocarcinoma cell invasive behaviour and endothelial cell angiogenic processes. (16731799)
2006
29
PC cell-derived growth factor mediates tamoxifen resistance and promotes tumor growth of human breast cancer cells. (14996734)
2004
30
Substrate specificity of Xenopus matrix metalloproteinase stromelysin-3. (15254771)
2004
31
L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers. (12892307)
2003
32
Alteration of large-scale chromatin structure by estrogen receptor. (11971975)
2002
33
Statin therapy is associated with reduced mortality across all age groups of individuals with significant coronary disease, including very elderly patients. (12446061)
2002
34
3alpha-Hydroxysteroid dehydrogenase in animal and human tissues. (11333148)
2001
35
Phenotype and genotype variation in primary carnitine deficiency. (11715001)
2001
36
The c-Src tyrosine kinase regulates signaling of the human DF3/MUC1 carcinoma-associated antigen with GSK3 beta and beta-catenin. (11152665)
2001
37
The replicator of the nopaline-type Ti plasmid pTiC58 is a member of the repABC family and is influenced by the TraR-dependent quorum-sensing regulatory system. (10613878)
2000
38
Expression of an estrogen receptor alpha variant protein in cell lines and tumors. (10854710)
2000
39
Resistance to botulinum toxin injections for spasmodic dysphonia. (10772310)
2000
40
A rippled-pattern trichoblastoma: an immunohistochemical study. (11028817)
2000
41
Properties of excitatory amino acid transport in the human U373 astrocytoma cell line. (10519046)
1999
42
Melorheostosis. (9040882)
1997
43
Detection of bladder tumor by urine cytology in cases of prostatic hypertrophy. (8989544)
1996
44
Papillary cystadenocarcinoma of salivary-glands - an immunohistochemical study. (21566964)
1994
45
A search for the primary abnormality in adult-onset type II citrullinemia. (8105687)
1993
46
Architecture of the vir regulons of group A streptococci parallels opacity factor phenotype and M protein class. (1385809)
1992
47
Detection of mutant adenine phosphoribosyltransferase genes by polymerase chain reaction-single strand conformation polymorphism analysis]. (1632317)
1992
48
Association of the human spasmolytic polypeptide and an estrogen-induced breast cancer protein (pS2) with human pancreatic carcinoma. (1735955)
1992
49
Transient anticardiolipin antibodies, functional protein S deficiency, and deep vein thrombosis. (1825446)
1991
50
Transfer of the human HPRT and GART genes from yeast to mammalian cells by microinjection of YAC DNA. (1767336)
1991

Variations for Legg-Calve-Perthes Disease

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

5
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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GO Terms for genes affiliated with Legg-Calve-Perthes Disease

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of blood coagulationGO:00301959.4SERPINE1, THBD
2heterophilic cell-cell adhesion via plasma membrane cell adhesion moleculesGO:00071579.3SELE, SELP
3blood coagulationGO:00075968.9F5, SELE, SERPINE1

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

idNameGO IDScoreTop Affiliating Genes
1oligosaccharide bindingGO:00704929.1SELE, SELP

Sources for Legg-Calve-Perthes Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet