MCID: OST076
MIFTS: 20

Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis

Categories: Genetic diseases, Bone diseases, Rare diseases

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

MalaCards integrated aliases for Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis:

Name: Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 54 24 13
Familial Osteochondritis Dissecans 56 69
Osteochondritis Dissecans Short Stature and Early-Onset Osteoarthritis 71
Osteochondritis Dissecans and Short Stature 56
Od 71

Characteristics:

Orphanet epidemiological data:

56
familial osteochondritis dissecans
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
waddling gait (in some patients)


HPO:

32
osteochondritis dissecans, short stature, and early-onset osteoarthritis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 165800
Orphanet 56 ORPHA251262
UMLS via Orphanet 70 C3665488
ICD10 via Orphanet 34 M93.2
MeSH 42 D010008

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

OMIM : 54
Patients with SSOAD exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis (OA), as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations (Dateki et al., 2017). The term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.' Dissecans refers to the appearance of part of the bone having been cut away. (165800)

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 short stature, 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 : 71 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...

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

id Related Disease Score Top Affiliating Genes
1 familial osteochondritis dissecans 11.6

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

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Skeletal- Hands:
brachydactyly (in some patients)
numbness of 5th finger and ulnar half of 4th finger
slightly shorter metacarpal bones ii, iii, and iv
shortening of distal phalanges (in some patients)
short thumbs (in some patients)

Skeletal- Pelvis:
hip osteoarthritis

Head And Neck- Face:
midface hypoplasia, mild (in some patients)
frontal bossing (uncommon)

Skeletal- Limbs:
swelling in the elbows
pain in the elbows
loss of movement in the elbows (in some patients)
flattening of the capitulum of the humerus
broadening of the head of the radius
more
Skeletal:
advanced bone age
exostoses
osteoarthritis, early-onset (in some patients)
osteochondritis dissecans (uncommon)

Head And Neck- Nose:
flat nasal bridge (in some patients)

Growth- Other:
high ratio between sitting height and total height

Skeletal- Spine:
spondyloarthrosis
exaggerated lumbar lordosis (in some patients)
intervertebral disc disease (in some patients)

Skeletal- Feet:
broad halluces (in some patients)


Clinical features from OMIM:

165800

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

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 waddling gait 32 HP:0002515
3 osteoarthritis 32 HP:0002758
4 osteochondritis dissecans 32 HP:0010886
5 exostoses 32 HP:0100777
6 growth abnormality 32 HP:0001507

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


waddling gait, elbow pain, swelling in the elbows

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

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

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

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 Osteoarthritis 24 ACAN

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

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

39
Bone

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

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

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

71
id Symbol AA change Variation ID SNP ID
1 ACAN p.Val2303Met VAR_063765

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ACAN NM_013227.3(ACAN): c.7249G> A (p.Val2417Met) single nucleotide variant Pathogenic rs267606625 GRCh37 Chromosome 15, 89416172: 89416172

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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