MCID: BLN021
MIFTS: 13

Blount Disease, Adolescent

Categories: Bone diseases

Aliases & Classifications for Blount Disease, Adolescent

MalaCards integrated aliases for Blount Disease, Adolescent:

Name: Blount Disease, Adolescent 57 29
Osteochondrosis Deformans Tibiae, Adolescent 57
Tibia Vara, Adolescent 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive vs. multifactorial


HPO:

31
blount disease, adolescent:
Inheritance autosomal recessive inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM® 57 259200
MedGen 41 C3151572
SNOMED-CT via HPO 68 258211005 299331007 82562007

Summaries for Blount Disease, Adolescent

OMIM® : 57 Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by Sabharwal, 2009). (259200) (Updated 05-Apr-2021)

MalaCards based summary : Blount Disease, Adolescent, also known as osteochondrosis deformans tibiae, adolescent, is related to blount's disease. Related phenotypes are genu varum and osteochondritis dissecans

Related Diseases for Blount Disease, Adolescent

Diseases related to Blount Disease, Adolescent via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 blount's disease 10.1

Symptoms & Phenotypes for Blount Disease, Adolescent

Human phenotypes related to Blount Disease, Adolescent:

31
# Description HPO Frequency HPO Source Accession
1 genu varum 31 HP:0002970
2 osteochondritis dissecans 31 HP:0010886

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skel:
tibia vara
bowlegs
osteochondrosis deformans tibiae

Clinical features from OMIM®:

259200 (Updated 05-Apr-2021)

Drugs & Therapeutics for Blount Disease, Adolescent

Search Clinical Trials , NIH Clinical Center for Blount Disease, Adolescent

Genetic Tests for Blount Disease, Adolescent

Genetic tests related to Blount Disease, Adolescent:

# Genetic test Affiliating Genes
1 Blount Disease, Adolescent 29

Anatomical Context for Blount Disease, Adolescent

Publications for Blount Disease, Adolescent

Articles related to Blount Disease, Adolescent:

# Title Authors PMID Year
1
Blount disease. 57
19571101 2009
2
Blount disease (tibia vara) in Bardet-Biedl syndrome. 57
14608655 2003
3
Tibia vara in a patient with Bardet-Biedl syndrome. 57
1434882 1992
4
Familial osteochondritis dissecans with associated tibia vara. 57
13475409 1957
5
Late Onset Tibia Vara (Adolescent Blount's Disease). 61
24823192 1984
6
Late-onset tibia vara: a comparative analysis. 61
6699160 1984

Variations for Blount Disease, Adolescent

Expression for Blount Disease, Adolescent

Search GEO for disease gene expression data for Blount Disease, Adolescent.

Pathways for Blount Disease, Adolescent

GO Terms for Blount Disease, Adolescent

Sources for Blount Disease, Adolescent

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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