MCID: BLN001
MIFTS: 42

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 77 54 15
Blount Disease 12 54 60 45
Tibia Vara 54 30 74
Osteochondrosis Deformans Tibiae, Familial Infantile Type 54 74
Osteochondrosis Deformans Tibiae 54 60
Familial Infantile Type Osteochondrosis Deformans Tibiae 12
Blount Disease, Infantile 74
Erlacher-Blount Syndrome 54
Blount-Barber Syndrome 54
Infantile Tibia Vara 60
Tibia Vara Blount 60

Characteristics:

Orphanet epidemiological data:

60
blount disease
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:14798
MeSH 45 C536237
MESH via Orphanet 46 C536237
ICD10 via Orphanet 35 M92.5
UMLS via Orphanet 75 C0175756
Orphanet 60 ORPHA2768

Summaries for Blount's Disease

NIH Rare Diseases : 54 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 rickets and renal osteodystrophy. An important gene associated with Blount's Disease is HHEX (Hematopoietically Expressed Homeobox), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Pathways in cancer. 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 : 77 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 all 47)
# Related Disease Score Top Affiliating Genes
1 rickets 29.7 FGF23 PTH
2 renal osteodystrophy 29.6 FGF23 PTH
3 blount disease, infantile 12.4
4 epiphysiolysis of the hip 10.4
5 body mass index quantitative trait locus 1 10.3
6 osteochondrosis 10.2
7 8p11 myeloproliferative syndrome 10.1 FGF1 TPR
8 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 10.1
9 osteochondritis dissecans 10.1
10 fibroma 10.1
11 synostosis 10.1
12 mammary paget's disease 10.1
13 turner syndrome 10.1
14 compartment syndrome 10.1
15 familial osteochondritis dissecans 10.1
16 prader-willi syndrome 10.0
17 bardet-biedl syndrome 2 10.0
18 bardet-biedl syndrome 10 10.0
19 bardet-biedl syndrome 11 10.0
20 bardet-biedl syndrome 12 10.0
21 bardet-biedl syndrome 10.0
22 chondrodysplasia punctata syndrome 10.0
23 blount disease, adolescent 10.0
24 osteoarthritis 10.0
25 slipped capital femoral epiphysis 10.0
26 depression 10.0
27 hypervitaminosis d 9.8 FGF23 PTH
28 calciphylaxis 9.8 FGF23 PTH
29 oncogenic osteomalacia 9.8 FGF23 PTH
30 osteomalacia 9.8 FGF23 PTH
31 hypophosphatemic rickets, x-linked dominant 9.8 FGF23 PTH
32 impaired renal function disease 9.8 FGF23 PTH
33 pulmonary alveolar microlithiasis 9.8 FGF23 PTH
34 phosphorus metabolism disease 9.8 FGF23 PTH
35 secondary hyperparathyroidism of renal origin 9.8 FGF23 PTH
36 hyperparathyroidism 9.8 FGF23 PTH
37 metaphyseal chondrodysplasia, jansen type 9.8 FGF23 PTH
38 parathyroid gland disease 9.8 FGF23 PTH
39 hypophosphatemic rickets with hypercalciuria, hereditary 9.7 FGF23 PTH
40 mineral metabolism disease 9.7 FGF23 PTH
41 hypocalcemia, autosomal dominant 1 9.7 FGF23 PTH
42 hyperphosphatemia 9.7 FGF23 PTH
43 bone remodeling disease 9.7 FGF23 PTH
44 hypophosphatemia 9.7 FGF23 PTH
45 hypoparathyroidism 9.6 FGF23 PTH
46 urinary system disease 9.6 FGF23 PTH
47 primary hyperparathyroidism 9.4 FGF23 PTH

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:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944

MGI Mouse Phenotypes related to Blount's Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.1 FGF1 FGF23 HHEX IL24 PTH 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 30

Anatomical Context for Blount's Disease

MalaCards organs/tissues related to Blount's Disease:

42
Bone

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

20
Tibia

Publications for Blount's Disease

Articles related to Blount's Disease:

(show top 50) (show all 129)
# Title Authors Year
1
Blount disease. ( 29481866 )
2019
2
Risk factors for failure of temporary hemiepiphysiodesis in Blount disease: a systematic review. ( 30741749 )
2019
3
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
4
Update on treatment of adolescent Blount disease. ( 29315109 )
2018
5
Treatment failures and complications in patients with Blount disease treated with temporary hemiepiphysiodesis: a critical systematic literature review. ( 29889697 )
2018
6
The Role of Taylor Spatial Frame in the Treatment of Blount Disease. ( 30355811 )
2018
7
The challenges of a comprehensive surgical approach to Blount's disease. ( 29263762 )
2017
8
Treatment of Infantile Blount Disease: An Update. ( 28799991 )
2017
9
Blount's disease: a rickets mimicker. ( 27177940 )
2016
10
MANAGEMENT OF INFANTILE BLOUNT'S DISEASE WITH MOLDED ORTHOSES: A NEW PERSPECTIVE. ( 26981042 )
2016
11
W/M serrated osteotomy for infantile Blount's disease in Ghana: Short-term results. ( 27251957 )
2016
12
Guided growth for tibia vara (Blount's disease). ( 27741108 )
2016
13
Unusual Case of a 13-Year-Old Male with Blount's Disease Who was Unable to Walk: A Prevention Lesson. ( 30787716 )
2016
14
Total Knee Arthroplasty in Patients with Blount Disease or Blount-Like Deformity. ( 26235520 )
2016
15
Complete Closing Wedge Osteotomy for Correction of Blount Disease (Tibia Vara): A Technique. ( 26761912 )
2016
16
Vitamin D Status in Blount Disease. ( 27276637 )
2016
17
Osteotomy for deformities in blount disease: A systematic review. ( 27408479 )
2016
18
Gradual Deformity Correction in Blount Disease. ( 28027146 )
2016
19
Melt-metaphyseal and diphyseal osteotomy for correction of infantile Blount's disease: a long-term follow-up study. ( 25932193 )
2015
20
Case Report: 'Z' osteotomy - a novel technique of treatment in Blount's disease. ( 27583129 )
2015
21
Evaluation of complications of treatment of severe Blount's disease by circular external fixation using a novel classification scheme. ( 25588049 )
2015
22
Treatment of Adolescent Blount Disease Using Taylor Spatial Frame With and Without Fibular Osteotomy: Is There any Difference? ( 25321881 )
2015
23
Blount disease: an update. ( 25435033 )
2015
24
Are patient demographics different for early-onset and late-onset Blount disease? Results based on meta-analysis. ( 26163867 )
2015
25
Do we need to do overcorrection in Blount's disease? ( 24817156 )
2014
26
Is There a Difference in Sagittal Alignment of Blount's Disease Between Radiographic and Clinical Evaluation? ( 24452794 )
2014
27
Do children with Blount disease have lower body mass index after lower limb realignment? ( 23872804 )
2014
28
Multicenter study of Blount disease in Japan by the Japanese Pediatric Orthopaedic Association. ( 24218063 )
2014
29
Obesity and increasing rate of infantile Blount disease. ( 24419262 )
2014
30
Triple tibial osteotomy for the correction of severe bilateral varus deformity in a patient with late-onset Blount's disease. ( 22644074 )
2013
31
Combined distal tibial rotational osteotomy and proximal growth plate modulation for treatment of infantile Blount's disease. ( 23610758 )
2013
32
MRI evaluation of the knee in children with infantile Blount disease: tibial and extra-tibial findings. ( 23615630 )
2013
33
Advanced bone age in children with Blount disease: a case-control study. ( 23752155 )
2013
34
Blount disease. ( 23818028 )
2013
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
Treatment of infantile Blount disease with lateral tension band plating. ( 22173384 )
2012
40
Adolescent Blount disease in obese children treated by eight-plate hemiepiphysiodesis. ( 22448825 )
2012
41
Fixator-assisted medial tibial plateau elevation to treat severe Blount's disease: outcomes at maturity. ( 21349783 )
2011
42
Can Blount's disease heal spontaneously? ( 20609637 )
2010
43
Increased risk of Blount disease in obese children and adolescents with vitamin D deficiency. ( 21102216 )
2010
44
Femoral torsion in patients with Blount's disease: a previously unrecognised component. ( 19794178 )
2009
45
Correction of Blount's disease by a multi-axial external fixation system. ( 19370370 )
2009
46
Failure of Orthofix eight-Plate for the treatment of Blount disease. ( 19098648 )
2009
47
Treatment of Blount disease: a comparison between the multiaxial correction system and other external fixators. ( 19352232 )
2009
48
Double osteotomy for the treatment of severe Blount disease. ( 19352234 )
2009
49
Blount disease. ( 19571101 )
2009
50
Outcome analysis of surgery for Blount disease. ( 20104154 )
2009

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

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

# Name GO ID Score Top Affiliating Genes
1 mRNA export from nucleus GO:0006406 9.37 HHEX TPR
2 fibroblast growth factor receptor signaling pathway GO:0008543 9.32 FGF1 FGF23
3 cellular response to heat GO:0034605 9.26 FGF1 TPR
4 regulation of signaling receptor activity GO:0010469 9.26 FGF1 FGF23 IL24 PTH
5 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.16 FGF1 FGF23
6 phosphate ion homeostasis GO:0055062 8.62 FGF23 PTH

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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