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

MCID: BLN001 MIFTS: 36	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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the musculoskeletal system and connective tissue

Chondropathies

Other juvenile osteochondrosis

Juvenile osteochondrosis of tibia and fibula

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

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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...

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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 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:

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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

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Drugs & Therapeutics for Blount's Disease

Search Clinical Trials , NIH Clinical Center for Blount's 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

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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	Saki F...Ramezani F	33352395	2021
2	Guided growth using a tension-band plate in Blount's disease. ⁶¹	Mare PH...Marais LC	33528229	2021
3	Medial Metaphyseal Beak Angle as a Predictor for Langenskiöld Stage II of Blount's Disease. ⁶¹	Wongcharoenwatana J...Ariyawatkul T	33000547	2020
4	Langenskiöld classification of tibia vara: a multicenter study on interrater reliability. ⁶¹	Vosoughi F...Yekaninejad MS	33315807	2020
5	Acute "three-in-one" surgery for the treatment of severe Blount's disease: Surgical technique and report of two cases. ⁶¹	Abak AA...Khoshhal KI	33132813	2020
6	Influence of Intraoperative Medial Collateral Ligament Bony Avulsion Injury on the Outcome of Primary Total Knee Arthroplasty. ⁶¹	Rajkumar N...Rajasekaran S	33229070	2020
7	Predictors of early recurrence following high tibial osteotomy for infantile tibia vara. ⁶¹	Horn A...Boskovic V	32936339	2020
8	Clinical and Genetic Characteristics of 23 Korean Patients with Haploinsufficiency of the Short-stature Homeobox-containing Gene. ⁶¹	Lee JS...Ko JM	32932528	2020
9	Pediatric Obesity and Sports Medicine: A Narrative Review and Clinical Recommendations. ⁶¹	Confroy K...Skelton JA	32852300	2020
10	The femoral deformity in Blount's disease: a comparative study of infantile, juvenile and adolescent Blount's disease. ⁶¹	Firth GB...Robertson A	32479715	2020
11	Insight into the possible aetiologies of Blount's disease: a systematic review of the literature. ⁶¹	Banwarie RR...Staal HM	31651748	2020
12	Assessment of the reliability and reproducibility of the Langenskiöld classification in Blount's disease. ⁶¹	du Plessis J...Robertson A	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	Khanfour AA	32694440	2020
14	Guided growth for the Treatment of Infantile Blount's disease: Is it a viable option? ⁶¹	Griswold BG...Cearley D	32042227	2020
15	A retrospective comparative study of corrective osteotomy for tibial deformities with the multiaxial correction fixator and the circular fixator. ⁶¹	Matsushita M...Ishiguro N	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	Bolliet MP...Bauler LD	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	Micicoi G...Ollivier M	32372282	2020
18	Prognostic Reliability of a New Classification System for Blount's Disease. ⁶¹	Jardaly AH...Gilbert S	32617226	2020
19	Tibia vara or Blount's disease: Why an early diagnosis and treatment are important? ⁶¹	Vasiliadis AV...Gadikoppula S	32419907	2020
20	An Assessment of International Classification of Diseases, 10th Revision, Clinical Modification, Codes Used to Describe Common Pediatric Orthopedic Conditions. ⁶¹	Rabenhorst BM...Blasier RD	31930410	2020
21	Improved Gait Parameters After Orthotic Treatment in Children with Infantile Tibia Vara. ⁶¹	Alsancak S...Kinik H	32081856	2020
22	Tension Band Plate (TBP)-guided Hemiepiphysiodesis in Blount Disease: 10-Year Single-center Experience With a Systematic Review of Literature. ⁶¹	Jain MJ...Phillips WA	31022017	2020
23	Postoperative radiologic outcome comparison between conventional and computer-assisted navigation total knee arthroplasty in extra-articular tibia vara. ⁶¹	Cho Y...Jeong HJ	32114895	2020
24	Proximal tibia vara involves the medial shift of the tibial articular surface. ⁶¹	Kawasaki M...Suguro T	32067563	2020
25	Hemiepiphyseodesis for Juvenile and Adolescent Tibia Vara Utilizing Percutaneous Transphyseal Screws. ⁶¹	Murphy RF...Mooney JF	31815857	2020
26	Infantile Tibia Vara (Blount Disease) with Iatrogenic Changes Causing Residual Tibial Deformities. ⁶¹	Oleas-Santillan G...Bowen JR	33044153	2020
27	Comment on: Slipped capital femoral epiphysis and Blount's disease as indicators for early metabolic surgical intervention. ⁶¹	O'Donnell C...Garg S	31521565	2019
28	Idiopathic Genu Valgum and Its Association With Obesity in Children and Adolescents. ⁶¹	Walker JL...Muchow R	31305377	2019
29	Blount's disease: The importance of early diagnosis and early treatment. ⁶¹	Delniotis I...Galanis N	31360512	2019
30	Medial Metaphyseal Slope as a Predictor of Recurrence in Blount Disease. ⁶¹	Laoharojanaphand T...Eamsobhana P	31243919	2019
31	New Single-stage Double Osteotomy for Late-presenting Infantile Tibia Vara: A Comprehensive Approach. ⁶¹	Abraham E...Murphy A	30969255	2019
32	Recurrence After Surgical Intervention for Infantile Tibia Vara: Assessment of a New Modified Classification. ⁶¹	LaMont LE...Johnston CE	28234732	2019
33	Blount disease. ⁶¹	Janoyer M	29481866	2019
34	Abnormal tibial alignment is a risk factor for lateral meniscus posterior root tears in patients with anterior cruciate ligament ruptures. ⁶¹	Okoroha KR...Moutzouros V	30288568	2019
35	The role of PPARγ in childhood obesity-induced fractures. ⁶¹	McCann MR...Ratneswaran A	31798753	2019
36	Step cut "V" osteotomy for acute correction in Blount's disease treatment: A case series. ⁶¹	Miraj F...Arya Mahendra Karda IW	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	Terjesen T...Anticevic D	30328743	2018
38	The Role of Taylor Spatial Frame in the Treatment of Blount Disease. ⁶¹	Tsibidakis H...Kanellopoulos AD	30355811	2018
39	Does the Surgical Correction of Tibial Torsion with Genu Varum Produce Outcomes Similar to Those in Varus Correction Alone? ⁶¹	Fragomen AT...Rozbruch SR	28646823	2018
40	Opening Wedge Osteotomy for the Correction of Adolescent Tibia Vara. ⁶¹	Griswold B...Khoury J	30104937	2018
41	Chronic lateral epiphyseal separation of the proximal tibia causes late-onset tibia vara. ⁶¹	Hasegawa S...Ishiguro N	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	Abe D...Nakashima Y	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	Thippana RK...Kumar MN	29201298	2017
44	The challenges of a comprehensive surgical approach to Blount's disease. ⁶¹	Edwards TA...Monsell F	29263762	2017
45	The failing medial compartment in the varus knee and its association with CAM deformity of the hip. ⁶¹	Palmer JS...Price AJ	28974401	2017
46	Evaluation of the external fixator TrueLok Hexapod System for tibial deformity correction in children. ⁶¹	Pesenti S...Launay F	28428035	2017
47	Simultaneous bilateral correction of genu varum with Smart frame. ⁶¹	Ozkul B...Demir B	28617182	2017
48	Open Wedge High Tibial Osteotomy with Distal Tubercle Osteotomy Lessens Change in Patellar Position. ⁶¹	Park H...Lee DH	28804716	2017
49	Prevalence of Hypertension in Pediatric Tibia Vara and Slipped Capital Femoral Epiphysis. ⁶¹	Taussig MD...Schoenecker JG	26090984	2016
50	Management of adolescent tibia vara using Taylor spatial frame. ⁶¹	Meselhy MA	29182115	2016

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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	FGF13-AS1	FGF13 Antisense RNA 1	RNA Gene	5.86	DISEASES inferred ¹⁵
2	EMP1	Epithelial Membrane Protein 1	Protein Coding	5.58	DISEASES inferred ¹⁵
3	SLC34A3	Solute Carrier Family 34 Member 3	Protein Coding	5.31	DISEASES inferred ¹⁵
4	FGF23	Fibroblast Growth Factor 23	Protein Coding	5.31	DISEASES inferred ¹⁵
5	NFIC	Nuclear Factor I C	Protein Coding	5.09	DISEASES inferred ¹⁵
6	MC4R	Melanocortin 4 Receptor	Protein Coding	5.04	DISEASES inferred ¹⁵
7	LEP	Leptin	Protein Coding	4.83	DISEASES inferred ¹⁵
8	FTO	FTO Alpha-Ketoglutarate Dependent Dioxygenase	Protein Coding	4.7	DISEASES inferred ¹⁵
9	MRAP2	Melanocortin 2 Receptor Accessory Protein 2	Protein Coding	4.68	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	Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics ⁶⁰	9.92	MC4R LEP

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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	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

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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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia