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MCID: BLN001
MIFTS: 36

Blount's Disease

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Blount's Disease

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MalaCards integrated aliases for Blount's Disease:

Name: Blount's Disease 12 74 52 15
Blount Disease 12 52 58
Tibia Vara 52 29 71
Osteochondrosis Deformans Tibiae, Familial Infantile Type 52 71
Osteochondrosis Deformans Tibiae 52 58
Familial Infantile Type Osteochondrosis Deformans Tibiae 12
Blount Disease, Infantile 71
Erlacher-Blount Syndrome 52
Blount-Barber Syndrome 52
Infantile Tibia Vara 58
Tibia Vara Blount 58

Characteristics:

Orphanet epidemiological data:

58
blount disease
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:14798
MESH via Orphanet 44 C536237
ICD10 via Orphanet 33 M92.5
UMLS via Orphanet 72 C0175756
Orphanet 58 ORPHA2768
SNOMED-CT via HPO 68 19579005
UMLS 71 C0175756 C0220757 C3150037
Sources

Summaries for Blount's Disease

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NIH Rare Diseases : 52 Blount disease is a growth disorder of the shin bone (tibia ) characterized by inward turning of the lower leg (bowing) that slowly worsens over time. While it is not uncommon for young children to have bowed legs , typically the bowing improves with age. There are two types of Blount disease (early-onset and late-onset), based on whether symptoms begin before or after four years of age. Blount disease may occur in one or both legs and can lead to shortening of the affected leg and other changes within bones of the legs. The cause of Blount disease is not well understood; however, a variety of hereditary and genetic factors are likely involved. The condition is more common among certain populations and is associated with obesity and early walking. Treatment may involve bracing and/or surgery.

MalaCards based summary : Blount's Disease, also known as blount disease, is related to osteochondrosis and body mass index quantitative trait locus 1. An important gene associated with Blount's Disease is PPP1R12A (Protein Phosphatase 1 Regulatory Subunit 12A), and among its related pathways/superpathways is Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics. Affiliated tissues include tibia and bone, and related phenotypes are tibial bowing and abnormality of the knee

Disease Ontology : 12 An osteochondrodysplasia that results in inward turning of lower leg, located in tibia, which fails to develop normally.

Wikipedia : 74 Blount's disease is a growth disorder of the tibia (shin bone) that causes the lower leg to angle... more...

Sources

Related Diseases for Blount's Disease

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Diseases in the Blount's Disease family:

Blount Disease, Infantile

Diseases related to Blount's Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 osteochondrosis 10.5
2 body mass index quantitative trait locus 1 10.3
3 blount disease, infantile 10.3
4 osteomyelitis 10.3
5 peroneal nerve paralysis 10.3
6 rickets 10.2
7 compartment syndrome 10.2
8 slipped capital femoral epiphysis 10.2
9 conjunctival deposit 10.2 FGF23 EMP1
10 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.1 SLC34A3 FGF23
11 achondroplasia 10.1
12 coxa vara 10.1
13 hypochondroplasia 10.1
14 legg-calve-perthes disease 10.1
15 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 10.1
16 pseudoachondroplasia 10.1
17 intracranial hypertension, idiopathic 10.1
18 retinitis pigmentosa 10.1
19 polydactyly 10.1
20 fibroma 10.1
21 scoliosis 10.1
22 non-alcoholic fatty liver disease 10.1
23 neuroretinitis 10.1
24 cholelithiasis 10.1
25 glucose intolerance 10.1
26 synostosis 10.1
27 multiple epiphyseal dysplasia 10.1
28 gonadal dysgenesis 10.1
29 neuritis 10.1
30 hypogonadism 10.1
31 dysostosis 10.1
32 mammary paget's disease 10.1
33 turner syndrome 10.1
34 retinitis 10.1
35 fatty liver disease 10.1
36 muscular dystrophy 10.1
37 familial osteochondritis dissecans 10.1
38 idiopathic avascular necrosis 10.1
39 pik3ca-related overgrowth syndrome 10.1
40 rare tumor 10.1
41 overgrowth syndrome 10.1
42 metaphyseal chondrodysplasia, jansen type 10.1 SLC34A3 FGF23
43 pulmonary alveolar microlithiasis 10.1 SLC34A3 FGF23
44 osteoglophonic dysplasia 10.1 SLC34A3 FGF23
45 hypophosphatemic rickets, x-linked recessive 10.1 SLC34A3 FGF23
46 slipped femoral capital epiphyses 10.1
47 chondrodysplasia punctata syndrome 10.1
48 blount disease, adolescent 10.1
49 leptin deficiency or dysfunction 10.1
50 bone disease 10.1

Graphical network of the top 20 diseases related to Blount's Disease:



Diseases related to Blount's Disease
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Symptoms & Phenotypes for Blount's Disease

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Human phenotypes related to Blount's Disease:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tibial bowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002982
2 abnormality of the knee 58 31 frequent (33%) Frequent (79-30%) HP:0002815
3 abnormality of the tibial metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0006491
4 abnormality of the proximal tibial epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0010591
5 osteochondrosis 58 31 frequent (33%) Frequent (79-30%) HP:0040188
Sources

Drugs & Therapeutics for Blount's Disease

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Search Clinical Trials , NIH Clinical Center for Blount's Disease

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Genetic Tests for Blount's Disease

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Genetic tests related to Blount's Disease:

# Genetic test Affiliating Genes
1 Tibia Vara 29
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Anatomical Context for Blount's Disease

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The Foundational Model of Anatomy Ontology organs/tissues related to Blount's Disease:

19
Tibia

MalaCards organs/tissues related to Blount's Disease:

40
Bone
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Publications for Blount's Disease

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Articles related to Blount's Disease:

(show top 50) (show all 374)
# Title Authors PMID Year
1
The femoral deformity in Blount's disease: a comparative study of infantile, juvenile and adolescent Blount's disease. 61
32479715 2020
2
Guided growth for the Treatment of Infantile Blount's disease: Is it a viable option? 61
32042227 2020
3
Insight into the possible aetiologies of Blount's disease: a systematic review of the literature. 61
31651748 2020
4
Assessment of the reliability and reproducibility of the Langenskiöld classification in Blount's disease. 61
31725534 2020
5
Neutral alignment resulting from tibial vara and opposite femoral valgus is the main morphologic pattern in healthy middle-aged patients: an exploration of a 3D-CT database. 61
32372282 2020
6
Tibia vara or Blount's disease: Why an early diagnosis and treatment are important? 61
32419907 2020
7
An Assessment of International Classification of Diseases, 10th Revision, Clinical Modification, Codes Used to Describe Common Pediatric Orthopedic Conditions. 61
31930410 2020
8
Improved Gait Parameters After Orthotic Treatment in Children with Infantile Tibia Vara. 61
32081856 2020
9
Tension Band Plate (TBP)-guided Hemiepiphysiodesis in Blount Disease: 10-Year Single-center Experience With a Systematic Review of Literature. 61
31022017 2020
10
Postoperative radiologic outcome comparison between conventional and computer-assisted navigation total knee arthroplasty in extra-articular tibia vara. 61
32114895 2020
11
Hemiepiphyseodesis for Juvenile and Adolescent Tibia Vara Utilizing Percutaneous Transphyseal Screws. 61
31815857 2020
12
Proximal tibia vara involves the medial shift of the tibial articular surface. 61
32067563 2020
13
Comment on: Slipped capital femoral epiphysis and Blount's disease as indicators for early metabolic surgical intervention. 61
31521565 2019
14
Idiopathic Genu Valgum and Its Association With Obesity in Children and Adolescents. 61
31305377 2019
15
Blount's disease: The importance of early diagnosis and early treatment. 61
31360512 2019
16
Medial Metaphyseal Slope as a Predictor of Recurrence in Blount Disease. 61
31243919 2019
17
New Single-stage Double Osteotomy for Late-presenting Infantile Tibia Vara: A Comprehensive Approach. 61
30969255 2019
18
Recurrence After Surgical Intervention for Infantile Tibia Vara: Assessment of a New Modified Classification. 61
28234732 2019
19
Blount disease. 61
29481866 2019
20
Abnormal tibial alignment is a risk factor for lateral meniscus posterior root tears in patients with anterior cruciate ligament ruptures. 61
30288568 2019
21
The role of PPARγ in childhood obesity-induced fractures. 61
31798753 2019
22
Step cut "V" osteotomy for acute correction in Blount's disease treatment: A case series. 61
31005701 2019
23
Blount's disease successfully treated with intraepiphyseal osteotomy with elevation of the medial plateau of the tibia-a case report with 65 years' follow-up. 61
30328743 2018
24
The Role of Taylor Spatial Frame in the Treatment of Blount Disease. 61
30355811 2018
25
Does the Surgical Correction of Tibial Torsion with Genu Varum Produce Outcomes Similar to Those in Varus Correction Alone? 61
28646823 2018
26
Opening Wedge Osteotomy for the Correction of Adolescent Tibia Vara. 61
30104937 2018
27
Chronic lateral epiphyseal separation of the proximal tibia causes late-onset tibia vara. 61
28099199 2018
28
Inverted V-shaped high tibial osteotomy for severe tibia vara associated with Turner syndrome: A case report and review of literature. 61
29245097 2018
29
The challenges of a comprehensive surgical approach to Blount's disease. 61
29263762 2017
30
The failing medial compartment in the varus knee and its association with CAM deformity of the hip. 61
28974401 2017
31
Lateralization of Tibial Plateau Reference Point Improves Accuracy of Tibial Resection in Total Knee Arthroplasty in Patients with Proximal Tibia Vara. 61
29201298 2017
32
Evaluation of the external fixator TrueLok Hexapod System for tibial deformity correction in children. 61
28428035 2017
33
Hemiepiphyseodesis for Juvenile and Adolescent Tibia Vara Utilizing Percutaneous Transphyseal Screws. 61
28891825 2017
34
Simultaneous bilateral correction of genu varum with Smart frame. 61
28617182 2017
35
Idiopathic Genu Valgum and Its Association With Obesity in Children and Adolescents. 61
28288078 2017
36
Open Wedge High Tibial Osteotomy with Distal Tubercle Osteotomy Lessens Change in Patellar Position. 61
28804716 2017
37
Prevalence of Hypertension in Pediatric Tibia Vara and Slipped Capital Femoral Epiphysis. 61
26090984 2016
38
Management of adolescent tibia vara using Taylor spatial frame. 61
29182115 2016
39
Guided growth for tibia vara (Blount's disease). 61
27741108 2016
40
W/M serrated osteotomy for infantile Blount's disease in Ghana: Short-term results. 61
27251957 2016
41
Blount's disease: a rickets mimicker. 61
27177940 2016
42
Unusual Case of a 13-Year-Old Male with Blount's Disease Who was Unable to Walk: A Prevention Lesson. 61
30787716 2016
43
MANAGEMENT OF INFANTILE BLOUNT'S DISEASE WITH MOLDED ORTHOSES: A NEW PERSPECTIVE. 61
26981042 2016
44
Is end-stage lateral osteoarthritic knee always valgus? Mechanical alignment analysis and radiographic severity assessment. 61
26037931 2016
45
The Efficacy of Percutaneous Lateral Hemiepiphysiodesis on Angular Correction in Idiopathic Adolescent Genu Varum. 61
26929805 2016
46
Multiplanar Deformities Correction Using Taylor Spatial Frame in Skeletally Immature Patients. 61
27347235 2016
47
A modified Puddu technique for the treatment of adolescent mild to moderate tibia vara. 61
26426507 2016
48
Complete Closing Wedge Osteotomy for Correction of Blount Disease (Tibia Vara): A Technique. 61
26761912 2016
49
Hemiepiphysiodesis Implants for Late-onset Tibia Vara: A Comparison of Cost, Surgical Success, and Implant Failure. 61
25551783 2016
50
Fixator-assisted Technique Enables Less Invasive Plate Osteosynthesis in Medial Opening-wedge High Tibial Osteotomy: A Novel Technique. 61
26022111 2015
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Variations for Blount's Disease

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Expression for Blount's Disease

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Search GEO for disease gene expression data for Blount's Disease.
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Pathways for Blount's Disease

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Pathways related to Blount's Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics 60
9.92 MC4R LEP
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GO Terms for Blount's Disease

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Biological processes related to Blount's Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of angiogenesis GO:0045765 9.37 SP100 LEP
2 insulin secretion GO:0030073 9.32 MC4R LEP
3 regulation of metabolic process GO:0019222 9.26 MC4R LEP
4 energy reserve metabolic process GO:0006112 9.16 MC4R LEP
5 cellular response to leptin stimulus GO:0044320 8.96 LEP FGF23
6 cellular phosphate ion homeostasis GO:0030643 8.62 SLC34A3 FGF23
Sources

Sources for Blount's Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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