MCID: BLN001
MIFTS: 37

Blount's Disease

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Blount's Disease

MalaCards integrated aliases for Blount's Disease:

Name: Blount's Disease 12 75 53 15
Blount Disease 12 53 59 44
Tibia Vara 53 29 72
Osteochondrosis Deformans Tibiae, Familial Infantile Type 53 72
Osteochondrosis Deformans Tibiae 53 59
Familial Infantile Type Osteochondrosis Deformans Tibiae 12
Blount Disease, Infantile 72
Erlacher-Blount Syndrome 53
Blount-Barber Syndrome 53
Infantile Tibia Vara 59
Tibia Vara Blount 59

Characteristics:

Orphanet epidemiological data:

59
blount disease
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:14798
MeSH 44 C536237
MESH via Orphanet 45 C536237
ICD10 via Orphanet 34 M92.5
UMLS via Orphanet 73 C0175756
Orphanet 59 ORPHA2768
UMLS 72 C0175756 C0220757 C3150037

Summaries for Blount's Disease

NIH Rare Diseases : 53 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 SHANK2 (SH3 And Multiple Ankyrin Repeat Domains 2), and among its related pathways/superpathways are Immune response IFN gamma signaling pathway and Signaling by activated point mutants of FGFR3. Affiliated tissues include tibia and bone, and related phenotypes are abnormality of the metaphysis 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 : 75 Blount's disease is a growth disorder of the tibia (shin bone) that causes the lower leg to angle... more...

Related Diseases for Blount's Disease

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 69)
# 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 body mass index quantitative trait locus 11 10.2
10 body mass index quantitative trait locus 9 10.2
11 body mass index quantitative trait locus 8 10.2
12 body mass index quantitative trait locus 4 10.2
13 body mass index quantitative trait locus 10 10.2
14 body mass index quantitative trait locus 7 10.2
15 body mass index quantitative trait locus 12 10.2
16 body mass index quantitative trait locus 14 10.2
17 body mass index quantitative trait locus 18 10.2
18 body mass index quantitative trait locus 19 10.2
19 body mass index quantitative trait locus 20 10.2
20 achondroplasia 10.1
21 coxa vara 10.1
22 hypochondroplasia 10.1
23 legg-calve-perthes disease 10.1
24 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 10.1
25 pseudoachondroplasia 10.1
26 intracranial hypertension, idiopathic 10.1
27 retinitis pigmentosa 10.1
28 polydactyly 10.1
29 sleep apnea 10.1
30 fibroma 10.1
31 scoliosis 10.1
32 non-alcoholic fatty liver disease 10.1
33 neuroretinitis 10.1
34 cholelithiasis 10.1
35 glucose intolerance 10.1
36 synostosis 10.1
37 multiple epiphyseal dysplasia 10.1
38 gonadal dysgenesis 10.1
39 neuritis 10.1
40 hypogonadism 10.1
41 dysostosis 10.1
42 mammary paget's disease 10.1
43 turner syndrome 10.1
44 retinitis 10.1
45 hypogonadotropism 10.1
46 fatty liver disease 10.1
47 muscular dystrophy 10.1
48 familial osteochondritis dissecans 10.1
49 epiphysiolysis of the hip 10.1
50 idiopathic avascular necrosis 10.1

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



Diseases related to Blount's Disease

Symptoms & Phenotypes for Blount's Disease

Human phenotypes related to Blount's Disease:

32 59 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphysis 32 hallmark (90%) HP:0000944
2 abnormality of the knee 59 Frequent (79-30%)
3 tibial bowing 59 Very frequent (99-80%)
4 osteochondrosis 59 Frequent (79-30%)
5 abnormality of the tibial metaphysis 59 Frequent (79-30%)
6 abnormality of the proximal tibial epiphysis 59 Frequent (79-30%)

Drugs & Therapeutics for Blount's Disease

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

Cochrane evidence based reviews: blount disease

Genetic Tests for Blount's Disease

Genetic tests related to Blount's Disease:

# Genetic test Affiliating Genes
1 Tibia Vara 29

Anatomical Context for Blount's Disease

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

19
Tibia

MalaCards organs/tissues related to Blount's Disease:

41
Bone

Publications for Blount's Disease

Articles related to Blount's Disease:

(show top 50) (show all 282)
# Title Authors PMID Year
1
Blount's disease: The importance of early diagnosis and early treatment. 38
31360512 2019
2
Medial Metaphyseal Slope as a Predictor of Recurrence in Blount Disease. 38
31243919 2019
3
Same-stage total knee arthroplasty and osteotomy for osteoarthritis with extra-articular deformity. Part I: Tibial osteotomy, prospective study of 26 cases. 38
31208931 2019
4
Gradual Deformity Correction in Blount Disease. 38
30969256 2019
5
Radiography, CT, and MRI of Hip and Lower Limb Disorders in Children and Adolescents. 38
31059403 2019
6
Tension Band Plate (TBP)-guided Hemiepiphysiodesis in Blount Disease: 10-Year Single-center Experience With a Systematic Review of Literature. 38
31022017 2019
7
A comparative evaluation of tibial metaphyseal-diaphyseal angle changes between physiologic bowing and Blount disease. 38
31027114 2019
8
Risk factors for failure of temporary hemiepiphysiodesis in Blount disease: a systematic review. 38
30741749 2019
9
Blount disease. 38
29481866 2019
10
Step cut "V" osteotomy for acute correction in Blount's disease treatment: A case series. 38
31005701 2019
11
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. 38
30328743 2018
12
Treatment failures and complications in patients with Blount disease treated with temporary hemiepiphysiodesis: a critical systematic literature review. 38
29889697 2018
13
Percutaneous low-energy osteotomy in treatment of pathological coronal knee deformities in pediatrics. 38
30489445 2018
14
The Role of Taylor Spatial Frame in the Treatment of Blount Disease. 38
30355811 2018
15
Update on treatment of adolescent Blount disease. 38
29315109 2018
16
Opening Wedge Osteotomy for the Correction of Adolescent Tibia Vara. 38
30104937 2018
17
The challenges of a comprehensive surgical approach to Blount's disease. 38
29263762 2017
18
Evaluation of the external fixator TrueLok Hexapod System for tibial deformity correction in children. 38
28428035 2017
19
Treatment of Infantile Blount Disease: An Update. 38
28799991 2017
20
Simultaneous bilateral correction of genu varum with Smart frame. 38
28617182 2017
21
[Functional results of open wedge osteotomies in lower limb angular deformities in teenagers]. 38
29216705 2017
22
Spectrum of paediatric rheumatic diseases in Nigeria. 38
28143550 2017
23
Guided Growth Implant Failure is a Result of Cyclic Fatigue: Explant Analysis With Scanning Electron Microscopy. 38
26523701 2017
24
Gradual Deformity Correction in Blount Disease. 38
28027146 2016
25
Prevalence of Hypertension in Pediatric Tibia Vara and Slipped Capital Femoral Epiphysis. 38
26090984 2016
26
Guided growth for tibia vara (Blount's disease). 38
27741108 2016
27
Osteotomy for deformities in blount disease: A systematic review. 38
27408479 2016
28
Solid screw insertion for tension band plates: a surgical technique tip. 38
27312797 2016
29
W/M serrated osteotomy for infantile Blount's disease in Ghana: Short-term results. 38
27251957 2016
30
The aetiology of rickets-like lower limb deformities in Malawian children. 38
27059923 2016
31
Vitamin D Status in Blount Disease. 38
27276637 2016
32
Blount's disease: a rickets mimicker. 38
27177940 2016
33
Unusual Case of a 13-Year-Old Male with Blount's Disease Who was Unable to Walk: A Prevention Lesson. 38
30787716 2016
34
[Orthopedic Problems in Overweight and Obese Children]. 38
26697739 2016
35
MANAGEMENT OF INFANTILE BLOUNT'S DISEASE WITH MOLDED ORTHOSES: A NEW PERSPECTIVE. 38
26981042 2016
36
Complete Closing Wedge Osteotomy for Correction of Blount Disease (Tibia Vara): A Technique. 38
26761912 2016
37
Total Knee Arthroplasty in Patients with Blount Disease or Blount-Like Deformity. 38
26235520 2016
38
Are patient demographics different for early-onset and late-onset Blount disease? Results based on meta-analysis. 38
26163867 2015
39
Treatment of Adolescent Blount Disease Using Taylor Spatial Frame With and Without Fibular Osteotomy: Is There any Difference? 38
25321881 2015
40
Musculoskeletal Pain, Self-reported Physical Function, and Quality of Life in the Teen-Longitudinal Assessment of Bariatric Surgery (Teen-LABS) Cohort. 38
25915190 2015
41
Evaluation of complications of treatment of severe Blount's disease by circular external fixation using a novel classification scheme. 38
25588049 2015
42
Melt-metaphyseal and diphyseal osteotomy for correction of infantile Blount's disease: a long-term follow-up study. 38
25932193 2015
43
Blount disease: an update. 38
25435033 2015
44
Altered lower extremity fracture characteristics in obese pediatric trauma patients. 38
24740109 2015
45
Case Report: 'Z' osteotomy - a novel technique of treatment in Blount's disease. 38
27583129 2015
46
Is there a difference in sagittal alignment of Blount's disease between radiographic and clinical evaluation? 38
24452794 2014
47
External fixation for closed pediatric femoral shaft fractures: where are we now? 38
24615424 2014
48
Magnetic resonance imaging of the pediatric knee. 38
25442031 2014
49
Do we need to do overcorrection in Blount's disease? 38
24817156 2014
50
Obesity and increasing rate of infantile Blount disease. 38
24419262 2014

Variations for Blount's Disease

Expression for Blount's Disease

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

Pathways for Blount's Disease

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.34 IL24 FGF23 FGF1
2
Show member pathways
10.72 FGF23 FGF1
3 10.3 FGF23 FGF1

GO Terms for Blount's Disease

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor signaling pathway GO:0008543 9.26 FGF23 FGF1
2 cell proliferation GO:0008283 9.16 PES1 FGF1
3 cellular response to heat GO:0034605 8.96 TPR FGF1
4 cell differentiation GO:0030154 8.92 HHEX FGF23 FGF1 ADIRF

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

# Name GO ID Score Top Affiliating Genes
1 repressing transcription factor binding GO:0070491 8.96 TBP HHEX
2 fibroblast growth factor receptor binding GO:0005104 8.62 FGF23 FGF1

Sources for Blount's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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