MCID: OST076
MIFTS: 18

Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis malady

Genetic diseases (common), Bone diseases categories

Aliases & Classifications for Osteochondritis Dissecans, Short Stature, and Early-Onset...

About this section

Aliases & Descriptions for Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis:

Name: Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 49 11 22
Osteochondritis Dissecans Short Stature and Early-Onset Osteoarthritis 67
 
Od 67


Classifications:



External Ids:

OMIM49 165800
MeSH36 D010008

Summaries for Osteochondritis Dissecans, Short Stature, and Early-Onset...

About this section
OMIM:49 The skeletal disorder osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the... (165800) more...

MalaCards based summary: Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis, also known as osteochondritis dissecans short stature and early-onset osteoarthritis, is related to familial osteochondritis dissecans, and has symptoms including autosomal dominant inheritance, growth abnormality and waddling gait. An important gene associated with Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis is ACAN (Aggrecan). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:67 Osteochondritis dissecans short stature and early-onset osteoarthritis: A type of osteochondritis defined as a separation of cartilage and subchondral bone from the surrounding tissue, primarily affecting the knee, ankle and elbow joints. It is clinically characterized by multiple osteochondritic lesions in knees and/or hips and/or elbows, disproportionate short stature and early-onset osteoarthritis.

Related Diseases for Osteochondritis Dissecans, Short Stature, and Early-Onset...

About this section

Diseases related to Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1familial osteochondritis dissecans10.8

Symptoms for Osteochondritis Dissecans, Short Stature, and Early-Onset...

About this section

Symptoms by clinical synopsis from OMIM:

165800

Clinical features from OMIM:

165800

HPO human phenotypes related to Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 growth abnormality HP:0001507
3 waddling gait HP:0002515
4 osteoarthritis HP:0002758
5 short stature HP:0004322
6 osteochondrosis dissecans HP:0010886
7 exostoses HP:0100777

Drugs & Therapeutics for Osteochondritis Dissecans, Short Stature, and Early-Onset...

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis

Genetic Tests for Osteochondritis Dissecans, Short Stature, and Early-Onset...

About this section

Genetic tests related to Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis:

id Genetic test Affiliating Genes
1 Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis22 ACAN

Anatomical Context for Osteochondritis Dissecans, Short Stature, and Early-Onset...

About this section

MalaCards organs/tissues related to Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis:

33
Bone

Animal Models for Osteochondritis Dissecans, Short Stature, and Early-Onset... or affiliated genes

About this section

Publications for Osteochondritis Dissecans, Short Stature, and Early-Onset...

About this section

Variations for Osteochondritis Dissecans, Short Stature, and Early-Onset...

About this section

UniProtKB/Swiss-Prot genetic disease variations for Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis:

67
id Symbol AA change Variation ID SNP ID
1ACANp.Val2303MetVAR_063765

Clinvar genetic disease variations for Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ACANNM_013227.3(ACAN): c.7249G> A (p.Val2417Met)single nucleotide variantPathogenicrs267606625GRCh37Chr 15, 89416172: 89416172

Expression for genes affiliated with Osteochondritis Dissecans, Short Stature, and Early-Onset...

About this section
Search GEO for disease gene expression data for Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis.

Pathways for genes affiliated with Osteochondritis Dissecans, Short Stature, and Early-Onset...

About this section

GO Terms for genes affiliated with Osteochondritis Dissecans, Short Stature, and Early-Onset...

About this section

Sources for Osteochondritis Dissecans, Short Stature, and Early-Onset...

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet