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 74 52 15
Blount Disease 12 52 58 43
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:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:14798
MeSH 43 C536237
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

Summaries for Blount's Disease

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 leptin deficiency or dysfunction. 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, bone and liver, 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 78)
# Related Disease Score Top Affiliating Genes
1 osteochondrosis 30.8 PES1 GALNS
2 leptin deficiency or dysfunction 29.7 MC4R LEP FTO
3 body mass index quantitative trait locus 1 10.3
4 blount disease, infantile 10.3
5 osteomyelitis 10.3
6 peroneal nerve paralysis 10.3
7 rickets 10.2
8 compartment syndrome 10.2
9 slipped capital femoral epiphysis 10.2
10 achondroplasia 10.1
11 coxa vara 10.1
12 hypochondroplasia 10.1
13 legg-calve-perthes disease 10.1
14 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 10.1
15 pseudoachondroplasia 10.1
16 intracranial hypertension, idiopathic 10.1
17 retinitis pigmentosa 10.1
18 polydactyly 10.1
19 sleep apnea 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 hypogonadotropism 10.1
36 fatty liver disease 10.1
37 muscular dystrophy 10.1
38 familial osteochondritis dissecans 10.1
39 idiopathic avascular necrosis 10.1
40 pik3ca-related overgrowth syndrome 10.1
41 rare tumor 10.1
42 overgrowth syndrome 10.1
43 endocrine pancreas disease 10.1 MC4R LEP
44 poliomyelitis 10.1 PES1 LEP
45 slipped femoral capital epiphyses 10.0
46 chondrodysplasia punctata syndrome 10.0
47 blount disease, adolescent 10.0
48 bone disease 10.0
49 renal osteodystrophy 10.0
50 cellulitis 10.0

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 osteochondrosis 58 31 frequent (33%) Frequent (79-30%) HP:0040188
4 abnormality of the tibial metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0006491
5 abnormality of the proximal tibial epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0010591

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

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.64 SLC34A3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.64 SLC34A3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.64 MC4R
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.64 MC4R
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.64 GALNS
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 GALNS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.64 GALNS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.64 GALNS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.64 GALNS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.64 MC4R
11 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.64 SLC34A3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.64 MC4R
13 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.64 SLC34A3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.64 MC4R
15 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.64 MC4R
16 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.64 MC4R
17 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.64 GALNS MC4R SLC34A3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.64 GALNS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.64 GALNS

MGI Mouse Phenotypes related to Blount's Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.76 FTO LEP MC4R MRAP2 NFIC PES1
2 renal/urinary system MP:0005367 9.35 FTO GALNS LEP PPP1R12A SLC34A3
3 skeleton MP:0005390 9.17 FTO GALNS LEP MC4R MRAP2 NFIC

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:

40
Bone, Liver, Pancreas

Publications for Blount's Disease

Articles related to Blount's Disease:

(show top 50) (show all 291)
# Title Authors PMID Year
1
Tension Band Plate (TBP)-guided Hemiepiphysiodesis in Blount Disease: 10-Year Single-center Experience With a Systematic Review of Literature. 61
31022017 2020
2
Risk factors for failure of temporary hemiepiphysiodesis in Blount disease: a systematic review. 61
30741749 2020
3
An Assessment of International Classification of Diseases, 10th Revision, Clinical Modification, Codes Used to Describe Common Pediatric Orthopedic Conditions. 61
31930410 2020
4
Percutaneous low-energy osteotomy in treatment of pathological coronal knee deformities in pediatrics. 61
30489445 2020
5
Musculoskeletal Pain, Physical Function, and Quality of Life After Bariatric Surgery. 61
31744891 2019
6
Assessment of the reliability and reproducibility of the Langenskiöld classification in Blount's disease. 61
31725534 2019
7
Comment on: Slipped capital femoral epiphysis and Blount's disease as indicators for early metabolic surgical intervention. 61
31521565 2019
8
Insight into the possible aetiologies of Blount's disease: a systematic review of the literature. 61
31651748 2019
9
Slipped capital femoral epiphysis and Blount disease as indicators for early metabolic surgical intervention. 61
31519488 2019
10
Same-stage total knee arthroplasty and osteotomy for osteoarthritis with extra-articular deformity. Part I: Tibial osteotomy, prospective study of 26 cases. 61
31208931 2019
11
Gradual correction of proximal tibia deformity for Blount disease in adolescent and young adults. 61
31530084 2019
12
Langenskiöld Classification for Blount Disease: Is It Reliable? 61
31488937 2019
13
Blount's disease: The importance of early diagnosis and early treatment. 61
31360512 2019
14
Medial Metaphyseal Slope as a Predictor of Recurrence in Blount Disease. 61
31243919 2019
15
Gradual Deformity Correction in Blount Disease. 61
30969256 2019
16
Radiography, CT, and MRI of Hip and Lower Limb Disorders in Children and Adolescents. 61
31059403 2019
17
A comparative evaluation of tibial metaphyseal-diaphyseal angle changes between physiologic bowing and Blount disease. 61
31027114 2019
18
Blount disease. 61
29481866 2019
19
The role of PPARĪ³ in childhood obesity-induced fractures. 61
31798753 2019
20
Step cut "V" osteotomy for acute correction in Blount's disease treatment: A case series. 61
31005701 2019
21
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
22
Treatment failures and complications in patients with Blount disease treated with temporary hemiepiphysiodesis: a critical systematic literature review. 61
29889697 2018
23
The Role of Taylor Spatial Frame in the Treatment of Blount Disease. 61
30355811 2018
24
Update on treatment of adolescent Blount disease. 61
29315109 2018
25
Opening Wedge Osteotomy for the Correction of Adolescent Tibia Vara. 61
30104937 2018
26
The challenges of a comprehensive surgical approach to Blount's disease. 61
29263762 2017
27
Evaluation of the external fixator TrueLok Hexapod System for tibial deformity correction in children. 61
28428035 2017
28
Treatment of Infantile Blount Disease: An Update. 61
28799991 2017
29
Simultaneous bilateral correction of genu varum with Smart frame. 61
28617182 2017
30
[Functional results of open wedge osteotomies in lower limb angular deformities in teenagers]. 61
29216705 2017
31
Spectrum of paediatric rheumatic diseases in Nigeria. 61
28143550 2017
32
Guided Growth Implant Failure is a Result of Cyclic Fatigue: Explant Analysis With Scanning Electron Microscopy. 61
26523701 2017
33
Prevalence of Hypertension in Pediatric Tibia Vara and Slipped Capital Femoral Epiphysis. 61
26090984 2016
34
Gradual Deformity Correction in Blount Disease. 61
28027146 2016
35
Guided growth for tibia vara (Blount's disease). 61
27741108 2016
36
Osteotomy for deformities in blount disease: A systematic review. 61
27408479 2016
37
Solid screw insertion for tension band plates: a surgical technique tip. 61
27312797 2016
38
W/M serrated osteotomy for infantile Blount's disease in Ghana: Short-term results. 61
27251957 2016
39
The aetiology of rickets-like lower limb deformities in Malawian children. 61
27059923 2016
40
Vitamin D Status in Blount Disease. 61
27276637 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
[Orthopedic Problems in Overweight and Obese Children]. 61
26697739 2016
44
MANAGEMENT OF INFANTILE BLOUNT'S DISEASE WITH MOLDED ORTHOSES: A NEW PERSPECTIVE. 61
26981042 2016
45
Complete Closing Wedge Osteotomy for Correction of Blount Disease (Tibia Vara): A Technique. 61
26761912 2016
46
Total Knee Arthroplasty in Patients with Blount Disease or Blount-Like Deformity. 61
26235520 2016
47
Are patient demographics different for early-onset and late-onset Blount disease? Results based on meta-analysis. 61
26163867 2015
48
Treatment of Adolescent Blount Disease Using Taylor Spatial Frame With and Without Fibular Osteotomy: Is There any Difference? 61
25321881 2015
49
Musculoskeletal Pain, Self-reported Physical Function, and Quality of Life in the Teen-Longitudinal Assessment of Bariatric Surgery (Teen-LABS) Cohort. 61
25915190 2015
50
Evaluation of complications of treatment of severe Blount's disease by circular external fixation using a novel classification scheme. 61
25588049 2015

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 regulation of catalytic activity GO:0050790 9.43 PPP1R12A LEP
2 response to insulin GO:0032868 9.4 MC4R LEP
3 insulin secretion GO:0030073 9.37 MC4R LEP
4 feeding behavior GO:0007631 9.32 MRAP2 MC4R
5 adipose tissue development GO:0060612 9.26 LEP FTO
6 regulation of brown fat cell differentiation GO:0090335 9.16 LEP FTO
7 regulation of metabolic process GO:0019222 8.96 MC4R LEP
8 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
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
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