MCID: BLN001
MIFTS: 36

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 74 20 15
Blount Disease 12 20 58
Tibia Vara 20 29 71
Osteochondrosis Deformans Tibiae, Familial Infantile Type 20 71
Osteochondrosis Deformans Tibiae 20 58
Familial Infantile Type Osteochondrosis Deformans Tibiae 12
Blount Disease, Infantile 71
Erlacher-Blount Syndrome 20
Blount-Barber Syndrome 20
Infantile Tibia Vara 58
Tibia Vara Blount 58

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:14798
MESH via Orphanet 45 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

Summaries for Blount's Disease

GARD : 20 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 sleep apnea and leptin deficiency or dysfunction. An important gene associated with Blount's Disease is FGF13-AS1 (FGF13 Antisense RNA 1), and among its related pathways/superpathways is Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics. Affiliated tissues include tibia, 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...

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 85)
# Related Disease Score Top Affiliating Genes
1 sleep apnea 29.3 MC4R LEP
2 leptin deficiency or dysfunction 29.1 MC4R LEP FTO
3 osteochondrosis 10.4
4 body mass index quantitative trait locus 1 10.2
5 blount disease, infantile 10.2
6 conjunctival deposit 10.2 FGF23 EMP1
7 osteomyelitis 10.1
8 peroneal nerve paralysis 10.1
9 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.1 SLC34A3 FGF23
10 metaphyseal chondrodysplasia, jansen type 10.1 SLC34A3 FGF23
11 osteoblastoma 10.1 FGF23 EMP1
12 pulmonary alveolar microlithiasis 10.1 SLC34A3 FGF23
13 hypophosphatemic rickets, x-linked recessive 10.1 SLC34A3 FGF23
14 osteoglophonic dysplasia 10.1 SLC34A3 FGF23
15 rickets 10.1
16 compartment syndrome 10.1
17 slipped capital femoral epiphysis 10.1
18 arterial calcification of infancy 10.1 SLC34A3 FGF23
19 schimmelpenning-feuerstein-mims syndrome 10.1 SLC34A3 FGF23
20 osteomalacia 10.0 SLC34A3 FGF23
21 coxa vara 10.0
22 legg-calve-perthes disease 10.0
23 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 10.0
24 pseudoachondroplasia 10.0
25 intracranial hypertension, idiopathic 10.0
26 retinitis pigmentosa 10.0
27 polydactyly 10.0
28 fibroma 10.0
29 scoliosis 10.0
30 neuroretinitis 10.0
31 cholelithiasis 10.0
32 glucose intolerance 10.0
33 synostosis 10.0
34 gonadal dysgenesis 10.0
35 neuritis 10.0
36 hypogonadism 10.0
37 dysostosis 10.0
38 mammary paget's disease 10.0
39 turner syndrome 10.0
40 retinitis 10.0
41 fatty liver disease 10.0
42 muscular dystrophy 10.0
43 familial osteochondritis dissecans 10.0
44 pik3ca-related overgrowth syndrome 10.0
45 rare tumor 10.0
46 overgrowth syndrome 10.0
47 dental abscess 10.0 SLC34A3 FGF23 EMP1
48 hypophosphatemia 10.0 SLC34A3 FGF23
49 hypophosphatemic rickets with hypercalciuria, hereditary 10.0 SLC34A3 FGF23 EMP1
50 enthesopathy 10.0 SLC34A3 FGF23 EMP1

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:

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

MGI Mouse Phenotypes related to Blount's Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.17 FGF23 FTO LEP MC4R MRAP2 NFIC

Drugs & Therapeutics for Blount's Disease

Search Clinical Trials , NIH Clinical Center for Blount's 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

Publications for Blount's Disease

Articles related to Blount's Disease:

(show top 50) (show all 385)
# Title Authors PMID Year
1
Anatomical risk factors of lateral ankle sprain in adolescent athletes: A prospective cohort study. 61
33352395 2021
2
Guided growth using a tension-band plate in Blount's disease. 61
33528229 2021
3
Medial Metaphyseal Beak Angle as a Predictor for Langenskiöld Stage II of Blount's Disease. 61
33000547 2020
4
Langenskiöld classification of tibia vara: a multicenter study on interrater reliability. 61
33315807 2020
5
Acute "three-in-one" surgery for the treatment of severe Blount's disease: Surgical technique and report of two cases. 61
33132813 2020
6
Influence of Intraoperative Medial Collateral Ligament Bony Avulsion Injury on the Outcome of Primary Total Knee Arthroplasty. 61
33229070 2020
7
Predictors of early recurrence following high tibial osteotomy for infantile tibia vara. 61
32936339 2020
8
Clinical and Genetic Characteristics of 23 Korean Patients with Haploinsufficiency of the Short-stature Homeobox-containing Gene. 61
32932528 2020
9
Pediatric Obesity and Sports Medicine: A Narrative Review and Clinical Recommendations. 61
32852300 2020
10
The femoral deformity in Blount's disease: a comparative study of infantile, juvenile and adolescent Blount's disease. 61
32479715 2020
11
Insight into the possible aetiologies of Blount's disease: a systematic review of the literature. 61
31651748 2020
12
Assessment of the reliability and reproducibility of the Langenskiöld classification in Blount's disease. 61
31725534 2020
13
Blount's disease - an up-to-date insight with contemporary treatment guidelines deduced from critical analysis of a large 146 surgical case series. 61
32694440 2020
14
Guided growth for the Treatment of Infantile Blount's disease: Is it a viable option? 61
32042227 2020
15
A retrospective comparative study of corrective osteotomy for tibial deformities with the multiaxial correction fixator and the circular fixator. 61
32774038 2020
16
Guided Growth with Hemiplateau Elevation as an Alternative to Epiphysiodesis for Treatment of a Young Patient with Advanced Infantile Blount Disease: A Case Report. 61
32910597 2020
17
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
18
Prognostic Reliability of a New Classification System for Blount's Disease. 61
32617226 2020
19
Tibia vara or Blount's disease: Why an early diagnosis and treatment are important? 61
32419907 2020
20
An Assessment of International Classification of Diseases, 10th Revision, Clinical Modification, Codes Used to Describe Common Pediatric Orthopedic Conditions. 61
31930410 2020
21
Improved Gait Parameters After Orthotic Treatment in Children with Infantile Tibia Vara. 61
32081856 2020
22
Tension Band Plate (TBP)-guided Hemiepiphysiodesis in Blount Disease: 10-Year Single-center Experience With a Systematic Review of Literature. 61
31022017 2020
23
Postoperative radiologic outcome comparison between conventional and computer-assisted navigation total knee arthroplasty in extra-articular tibia vara. 61
32114895 2020
24
Proximal tibia vara involves the medial shift of the tibial articular surface. 61
32067563 2020
25
Hemiepiphyseodesis for Juvenile and Adolescent Tibia Vara Utilizing Percutaneous Transphyseal Screws. 61
31815857 2020
26
Infantile Tibia Vara (Blount Disease) with Iatrogenic Changes Causing Residual Tibial Deformities. 61
33044153 2020
27
Comment on: Slipped capital femoral epiphysis and Blount's disease as indicators for early metabolic surgical intervention. 61
31521565 2019
28
Idiopathic Genu Valgum and Its Association With Obesity in Children and Adolescents. 61
31305377 2019
29
Blount's disease: The importance of early diagnosis and early treatment. 61
31360512 2019
30
Medial Metaphyseal Slope as a Predictor of Recurrence in Blount Disease. 61
31243919 2019
31
New Single-stage Double Osteotomy for Late-presenting Infantile Tibia Vara: A Comprehensive Approach. 61
30969255 2019
32
Recurrence After Surgical Intervention for Infantile Tibia Vara: Assessment of a New Modified Classification. 61
28234732 2019
33
Blount disease. 61
29481866 2019
34
Abnormal tibial alignment is a risk factor for lateral meniscus posterior root tears in patients with anterior cruciate ligament ruptures. 61
30288568 2019
35
The role of PPARĪ³ in childhood obesity-induced fractures. 61
31798753 2019
36
Step cut "V" osteotomy for acute correction in Blount's disease treatment: A case series. 61
31005701 2019
37
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
38
The Role of Taylor Spatial Frame in the Treatment of Blount Disease. 61
30355811 2018
39
Does the Surgical Correction of Tibial Torsion with Genu Varum Produce Outcomes Similar to Those in Varus Correction Alone? 61
28646823 2018
40
Opening Wedge Osteotomy for the Correction of Adolescent Tibia Vara. 61
30104937 2018
41
Chronic lateral epiphyseal separation of the proximal tibia causes late-onset tibia vara. 61
28099199 2018
42
Inverted V-shaped high tibial osteotomy for severe tibia vara associated with Turner syndrome: A case report and review of literature. 61
29245097 2018
43
Lateralization of Tibial Plateau Reference Point Improves Accuracy of Tibial Resection in Total Knee Arthroplasty in Patients with Proximal Tibia Vara. 61
29201298 2017
44
The challenges of a comprehensive surgical approach to Blount's disease. 61
29263762 2017
45
The failing medial compartment in the varus knee and its association with CAM deformity of the hip. 61
28974401 2017
46
Evaluation of the external fixator TrueLok Hexapod System for tibial deformity correction in children. 61
28428035 2017
47
Simultaneous bilateral correction of genu varum with Smart frame. 61
28617182 2017
48
Open Wedge High Tibial Osteotomy with Distal Tubercle Osteotomy Lessens Change in Patellar Position. 61
28804716 2017
49
Prevalence of Hypertension in Pediatric Tibia Vara and Slipped Capital Femoral Epiphysis. 61
26090984 2016
50
Management of adolescent tibia vara using Taylor spatial frame. 61
29182115 2016

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 9.92 MC4R LEP

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 feeding behavior GO:0007631 9.4 MRAP2 MC4R
2 adipose tissue development GO:0060612 9.37 LEP FTO
3 regulation of metabolic process GO:0019222 9.32 MC4R LEP
4 cellular response to leptin stimulus GO:0044320 9.26 LEP FGF23
5 cellular phosphate ion homeostasis GO:0030643 9.16 SLC34A3 FGF23
6 regulation of brown fat cell differentiation GO:0090335 8.96 LEP FTO
7 energy reserve metabolic process GO:0006112 8.8 MRAP2 MC4R LEP

Sources for Blount's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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