MCID: OST076
MIFTS: 19

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

Categories: Genetic diseases (common), Bone diseases

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
 
Familial Osteochondritis Dissecans 65
Od 67

Characteristics:

HPO:

61
osteochondritis dissecans, short stature, and early-onset osteoarthritis:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 165800
MeSH36 D010008
UMLS65 C3665488

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 exostoses, osteochondritis dissecans and short stature. 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 dissecans11.8

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 6)
id Description Frequency HPO Source Accession
1 exostoses HP:0100777
2 osteochondritis dissecans HP:0010886
3 short stature HP:0004322
4 osteoarthritis HP:0002758
5 waddling gait HP:0002515
6 growth abnormality HP:0001507

UMLS symptoms related to Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis:


swollen elbows, pain in elbow, waddling gait

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