MCID: BLN001
MIFTS: 39

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 76 53 15
Blount Disease 12 53 59 44
Tibia Vara 53 29 73
Osteochondrosis Deformans Tibiae, Familial Infantile Type 53 73
Osteochondrosis Deformans Tibiae 53 59
Familial Infantile Type Osteochondrosis Deformans Tibiae 12
Blount Disease, Infantile 73
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
Orphanet 59 ORPHA2768
ICD10 via Orphanet 34 M92.5
MESH via Orphanet 45 C536237
UMLS via Orphanet 74 C0175756

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 blount disease, adolescent and blount disease, infantile. An important gene associated with Blount's Disease is SLC26A2 (Solute Carrier Family 26 Member 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 bone and tibia, and related phenotypes are abnormality of the metaphysis and homeostasis/metabolism

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

Wikipedia : 76 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

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:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944

MGI Mouse Phenotypes related to Blount's Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.17 FGF1 FGF23 HHEX IL24 PTH1R TBP

Drugs & Therapeutics for Blount's Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Medial Compartmental Osteoarthritis Grade 1-4 With TomoFix™ Small or Conservatively Completed NCT01048710
2 Focused Registry on the Conservative Treatment of Osteoarthritis of the Knee Active, not recruiting NCT02077647

Search 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

MalaCards organs/tissues related to Blount's Disease:

41
Bone

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

19
Tibia

Publications for Blount's Disease

Articles related to Blount's Disease:

(show top 50) (show all 127)
# Title Authors Year
1
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. ( 30328743 )
2018
2
Update on treatment of adolescent Blount disease. ( 29315109 )
2018
3
Blount disease. ( 29481866 )
2018
4
Treatment failures and complications in patients with Blount disease treated with temporary hemiepiphysiodesis: a critical systematic literature review. ( 29889697 )
2018
5
The Role of Taylor Spatial Frame in the Treatment of Blount Disease. ( 30355811 )
2018
6
The challenges of a comprehensive surgical approach to Blount's disease. ( 29263762 )
2017
7
Treatment of Infantile Blount Disease: An Update. ( 28799991 )
2017
8
Blount's disease: a rickets mimicker. ( 27177940 )
2016
9
MANAGEMENT OF INFANTILE BLOUNT'S DISEASE WITH MOLDED ORTHOSES: A NEW PERSPECTIVE. ( 26981042 )
2016
10
W/M serrated osteotomy for infantile Blount's disease in Ghana: Short-term results. ( 27251957 )
2016
11
Guided growth for tibia vara (Blount's disease). ( 27741108 )
2016
12
Total Knee Arthroplasty in Patients with Blount Disease or Blount-Like Deformity. ( 26235520 )
2016
13
Complete Closing Wedge Osteotomy for Correction of Blount Disease (Tibia Vara): A Technique. ( 26761912 )
2016
14
Vitamin D Status in Blount Disease. ( 27276637 )
2016
15
Osteotomy for deformities in blount disease: A systematic review. ( 27408479 )
2016
16
Gradual Deformity Correction in Blount Disease. ( 28027146 )
2016
17
Melt-metaphyseal and diphyseal osteotomy for correction of infantile Blount's disease: a long-term follow-up study. ( 25932193 )
2015
18
Case Report: 'Z' osteotomy - a novel technique of treatment in Blount's disease. ( 27583129 )
2015
19
Evaluation of complications of treatment of severe Blount's disease by circular external fixation using a novel classification scheme. ( 25588049 )
2015
20
Treatment of Adolescent Blount Disease Using Taylor Spatial Frame With and Without Fibular Osteotomy: Is There any Difference? ( 25321881 )
2015
21
Blount disease: an update. ( 25435033 )
2015
22
Are patient demographics different for early-onset and late-onset Blount disease? Results based on meta-analysis. ( 26163867 )
2015
23
Do we need to do overcorrection in Blount's disease? ( 24817156 )
2014
24
Is There a Difference in Sagittal Alignment of Blount's Disease Between Radiographic and Clinical Evaluation? ( 24452794 )
2014
25
Do children with Blount disease have lower body mass index after lower limb realignment? ( 23872804 )
2014
26
Multicenter study of Blount disease in Japan by the Japanese Pediatric Orthopaedic Association. ( 24218063 )
2014
27
Obesity and increasing rate of infantile Blount disease. ( 24419262 )
2014
28
Triple tibial osteotomy for the correction of severe bilateral varus deformity in a patient with late-onset Blount's disease. ( 22644074 )
2013
29
Combined distal tibial rotational osteotomy and proximal growth plate modulation for treatment of infantile Blount's disease. ( 23610758 )
2013
30
MRI evaluation of the knee in children with infantile Blount disease: tibial and extra-tibial findings. ( 23615630 )
2013
31
Advanced bone age in children with Blount disease: a case-control study. ( 23752155 )
2013
32
Blount disease. ( 23818028 )
2013
33
Treatment of infantile Blount disease with lateral tension band plating. ( 22173384 )
2012
34
Adolescent Blount disease in obese children treated by eight-plate hemiepiphysiodesis. ( 22448825 )
2012
35
Intra-articular morphology of the knee joint in children with Blount disease: a case-control study using MRI. ( 22617915 )
2012
36
Radiolucent tissue and the straight child: commentary on an article by Sanjeev Sabharwal, MD, et al.: "Intra-articular morphology of the knee joint in children with Blount disease: a case-control study using MRI". ( 22617937 )
2012
37
Outcome analysis of surgical treatment of Blount disease in Nigeria. ( 22718165 )
2012
38
Management of neglected Blount disease using double corrective tibia osteotomy and medial plateau elevation. ( 24082956 )
2012
39
Fixator-assisted medial tibial plateau elevation to treat severe Blount's disease: outcomes at maturity. ( 21349783 )
2011
40
Can Blount's disease heal spontaneously? ( 20609637 )
2010
41
Increased risk of Blount disease in obese children and adolescents with vitamin D deficiency. ( 21102216 )
2010
42
Femoral torsion in patients with Blount's disease: a previously unrecognised component. ( 19794178 )
2009
43
Correction of Blount's disease by a multi-axial external fixation system. ( 19370370 )
2009
44
Failure of Orthofix eight-Plate for the treatment of Blount disease. ( 19098648 )
2009
45
Treatment of Blount disease: a comparison between the multiaxial correction system and other external fixators. ( 19352232 )
2009
46
Double osteotomy for the treatment of severe Blount disease. ( 19352234 )
2009
47
Blount disease. ( 19571101 )
2009
48
Outcome analysis of surgery for Blount disease. ( 20104154 )
2009
49
Infantile blount disease: a case report. ( 25606156 )
2009
50
The use of the Taylor spatial frame in adolescent Blount's disease: is fibular osteotomy necessary? ( 19308577 )
2008

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

GO Terms for Blount's Disease

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

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.8 PTH1R SLC26A2 TRPV4

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 9.16 FGF1 FGF23
2 cellular response to heat GO:0034605 8.96 FGF1 TRPV4
3 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 8.62 FGF1 FGF23

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.26 FGF1 FGF23
2 1-phosphatidylinositol-3-kinase activity GO:0016303 9.16 FGF1 FGF23
3 repressing transcription factor binding GO:0070491 8.96 HHEX TBP
4 fibroblast growth factor receptor binding GO:0005104 8.62 FGF1 FGF23

Sources for Blount's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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