MCID: OST076
MIFTS: 18

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

Categories: Genetic diseases, Bone diseases, Rare 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 51 24 12
Familial Osteochondritis Dissecans 53 67
Osteochondritis Dissecans Short Stature and Early-Onset Osteoarthritis 69
 
Osteochondritis Dissecans and Short Stature 53
Od 69

Characteristics:

Orphanet epidemiological data:

53
familial osteochondritis dissecans:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

63
osteochondritis dissecans, short stature, and early-onset osteoarthritis:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 165800
Orphanet53 ORPHA251262
ICD10 via Orphanet30 M93.2
MeSH38 D010008

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

About this section
OMIM:51 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 familial osteochondritis dissecans, is related to familial osteochondritis dissecans, and has symptoms including growth abnormality, waddling gait and osteoarthritis. An important gene associated with Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis is ACAN (Aggrecan). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:69 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 dissecans11.6

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

About this section

Symptoms by clinical synopsis from OMIM:

165800

Clinical features from OMIM:

165800

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

 63 (show all 6)
id Description HPO Frequency HPO Source Accession
1 growth abnormality63 HP:0001507
2 waddling gait63 HP:0002515
3 osteoarthritis63 HP:0002758
4 short stature63 HP:0004322
5 osteochondritis dissecans63 HP:0010886
6 exostoses63 HP:0100777

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


waddling gait, pain in elbow, swollen elbows

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 Osteoarthritis24 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:

35
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:

69
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)SNVPathogenicrs267606625GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet