Blount's Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: BLN001 MIFTS: 37	Blount's Disease Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the musculoskeletal system and connective tissue

Chondropathies

Other juvenile osteochondrosis

Juvenile osteochondrosis of tibia and fibula

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

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

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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...

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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
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:

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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%)

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Drugs & Therapeutics for Blount's Disease

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

Cochrane evidence based reviews: blount disease

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Genetic Tests for Blount's Disease

Genetic tests related to Blount's Disease:

#	Genetic test	Affiliating Genes
1	Tibia Vara ²⁹

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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

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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	Delniotis I...Galanis N	31360512	2019
2	Medial Metaphyseal Slope as a Predictor of Recurrence in Blount Disease. ³⁸	Laoharojanaphand T...Eamsobhana P	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	Catonne Y...Pascal-Moussellard H	31208931	2019
4	Gradual Deformity Correction in Blount Disease. ³⁸	Mayer SW...Fitch RD	30969256	2019
5	Radiography, CT, and MRI of Hip and Lower Limb Disorders in Children and Adolescents. ³⁸	Silva MS...Aihara AY	31059403	2019
6	Tension Band Plate (TBP)-guided Hemiepiphysiodesis in Blount Disease: 10-Year Single-center Experience With a Systematic Review of Literature. ³⁸	Jain MJ...Phillips WA	31022017	2019
7	A comparative evaluation of tibial metaphyseal-diaphyseal angle changes between physiologic bowing and Blount disease. ³⁸	Park BK...Park H	31027114	2019
8	Risk factors for failure of temporary hemiepiphysiodesis in Blount disease: a systematic review. ³⁸	Fan B...Sabharwal S	30741749	2019
9	Blount disease. ³⁸	Janoyer M	29481866	2019
10	Step cut "V" osteotomy for acute correction in Blount's disease treatment: A case series. ³⁸	Miraj F...Arya Mahendra Karda IW	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	Terjesen T...Anticevic D	30328743	2018
12	Treatment failures and complications in patients with Blount disease treated with temporary hemiepiphysiodesis: a critical systematic literature review. ³⁸	Burghardt RD...Kazim MA	29889697	2018
13	Percutaneous low-energy osteotomy in treatment of pathological coronal knee deformities in pediatrics. ³⁸	Emara KM...Emara AK	30489445	2018
14	The Role of Taylor Spatial Frame in the Treatment of Blount Disease. ³⁸	Tsibidakis H...Kanellopoulos AD	30355811	2018
15	Update on treatment of adolescent Blount disease. ³⁸	de Pablos J...Arenas-Miquelez A	29315109	2018
16	Opening Wedge Osteotomy for the Correction of Adolescent Tibia Vara. ³⁸	Griswold B...Khoury J	30104937	2018
17	The challenges of a comprehensive surgical approach to Blount's disease. ³⁸	Edwards TA...Monsell F	29263762	2017
18	Evaluation of the external fixator TrueLok Hexapod System for tibial deformity correction in children. ³⁸	Pesenti S...Launay F	28428035	2017
19	Treatment of Infantile Blount Disease: An Update. ³⁸	Sabharwal S...Sabharwal S	28799991	2017
20	Simultaneous bilateral correction of genu varum with Smart frame. ³⁸	Ozkul B...Demir B	28617182	2017
21	[Functional results of open wedge osteotomies in lower limb angular deformities in teenagers]. ³⁸	Orellana-Reta C...Valdez-Jimenez LA	29216705	2017
22	Spectrum of paediatric rheumatic diseases in Nigeria. ³⁸	Olaosebikan BH...Akintayo RO	28143550	2017
23	Guided Growth Implant Failure is a Result of Cyclic Fatigue: Explant Analysis With Scanning Electron Microscopy. ³⁸	Clement AE...Noonan KJ	26523701	2017
24	Gradual Deformity Correction in Blount Disease. ³⁸	Mayer SW...Fitch RD	28027146	2016
25	Prevalence of Hypertension in Pediatric Tibia Vara and Slipped Capital Femoral Epiphysis. ³⁸	Taussig MD...Schoenecker JG	26090984	2016
26	Guided growth for tibia vara (Blount's disease). ³⁸	Heflin JA...Stevens P	27741108	2016
27	Osteotomy for deformities in blount disease: A systematic review. ³⁸	Phedy P...Siregar PU	27408479	2016
28	Solid screw insertion for tension band plates: a surgical technique tip. ³⁸	Kadhim M...Herzenberg JE	27312797	2016
29	W/M serrated osteotomy for infantile Blount's disease in Ghana: Short-term results. ³⁸	Hollman F...Staal HM	27251957	2016
30	The aetiology of rickets-like lower limb deformities in Malawian children. ³⁸	Braithwaite VS...Prentice A	27059923	2016
31	Vitamin D Status in Blount Disease. ³⁸	Lisenda L...Robertson AJ	27276637	2016
32	Blount's disease: a rickets mimicker. ³⁸	Bhattacharjee R...Biswas SN	27177940	2016
33	Unusual Case of a 13-Year-Old Male with Blount's Disease Who was Unable to Walk: A Prevention Lesson. ³⁸	AlTurki YA	30787716	2016
34	[Orthopedic Problems in Overweight and Obese Children]. ³⁸	Hoffmann S...Rupprecht M	26697739	2016
35	MANAGEMENT OF INFANTILE BLOUNT'S DISEASE WITH MOLDED ORTHOSES: A NEW PERSPECTIVE. ³⁸	de Miranda Luzo...Guarniero R	26981042	2016
36	Complete Closing Wedge Osteotomy for Correction of Blount Disease (Tibia Vara): A Technique. ³⁸	Burton A...Hennrikus W	26761912	2016
37	Total Knee Arthroplasty in Patients with Blount Disease or Blount-Like Deformity. ³⁸	Natoli RM...Rees HW	26235520	2016
38	Are patient demographics different for early-onset and late-onset Blount disease? Results based on meta-analysis. ³⁸	Rivero SM...Sabharwal S	26163867	2015
39	Treatment of Adolescent Blount Disease Using Taylor Spatial Frame With and Without Fibular Osteotomy: Is There any Difference? ³⁸	Sachs O...Eidelman M	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	Bout-Tabaku S...Inge TH	25915190	2015
41	Evaluation of complications of treatment of severe Blount's disease by circular external fixation using a novel classification scheme. ³⁸	Cherkashin AM...Da Cunha AL	25588049	2015
42	Melt-metaphyseal and diphyseal osteotomy for correction of infantile Blount's disease: a long-term follow-up study. ³⁸	Liu J...Qian YW	25932193	2015
43	Blount disease: an update. ³⁸	Sabharwal S	25435033	2015
44	Altered lower extremity fracture characteristics in obese pediatric trauma patients. ³⁸	Gilbert SR...Sawyer J	24740109	2015
45	Case Report: 'Z' osteotomy - a novel technique of treatment in Blount's disease. ³⁸	Karuppal R...S S	27583129	2015
46	Is there a difference in sagittal alignment of Blount's disease between radiographic and clinical evaluation? ³⁸	Kim SJ...Sabharwal S	24452794	2014
47	External fixation for closed pediatric femoral shaft fractures: where are we now? ³⁸	Kong H...Sabharwal S	24615424	2014
48	Magnetic resonance imaging of the pediatric knee. ³⁸	Gill KG...Davis KW	25442031	2014
49	Do we need to do overcorrection in Blount's disease? ³⁸	Eamsobhana P...Yusuwan K	24817156	2014
50	Obesity and increasing rate of infantile Blount disease. ³⁸	Guven A...Kuru LI	24419262	2014

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Genes for Blount's Disease

Genes related to Blount's Disease (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SHANK2	SH3 And Multiple Ankyrin Repeat Domains 2	Protein Coding	15.34	DISEASES inferred ¹⁵
2	TPR	Translocated Promoter Region, Nuclear Basket Protein	Protein Coding	15.06	DISEASES inferred ¹⁵
3	TBP	TATA-Box Binding Protein	Protein Coding	14.84	DISEASES inferred ¹⁵
4	HHEX	Hematopoietically Expressed Homeobox	Protein Coding	14.8	DISEASES inferred ¹⁵
5	FGF1	Fibroblast Growth Factor 1	Protein Coding	14.71	DISEASES inferred ¹⁵
6	FGF23	Fibroblast Growth Factor 23	Protein Coding	14.09	DISEASES inferred ¹⁵
7	IL24	Interleukin 24	Protein Coding	4.99	DISEASES inferred ¹⁵
8	PES1	Pescadillo Ribosomal Biogenesis Factor 1	Protein Coding	4.7	DISEASES inferred ¹⁵
9	ADIRF	Adipogenesis Regulatory Factor	Protein Coding	4.63	DISEASES inferred ¹⁵

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Variations for Blount's Disease

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Expression for Blount's Disease

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

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Pathways for Blount's Disease

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

#	Super pathways	Score	Top Affiliating Genes
1	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	11.34	IL24 FGF23 FGF1
2	Signaling by activated point mutants of FGFR3 ⁶⁶ Show member pathways FGFR3 ligand binding and activation ⁶⁶ FGFR3 mutant receptor activation ⁶⁶ FGFR3b ligand binding and activation ⁶⁶ FGFR3c ligand binding and activation ⁶⁶ t(4;14) translocations of FGFR3 ⁶⁶	10.72	FGF23 FGF1
3	FGF signaling pathway ¹	10.3	FGF23 FGF1

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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

Sources for Blount's Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia