Multiple epiphyseal dysplasia due to collagen 9 anomaly

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 166002
OMIM Id: 600204
600969
614135
ICD-10: Q77.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple epiphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002515) Waddling gait 56 / 7739
2
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
3
 (HPO:0005086) Knee osteoarthritis 4 / 7739
4
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
5
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
6
 (HPO:0002983) Micromelia Frequent [Orphanet] 130 / 7739
7
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
8
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
9
 (HPO:0002758) Osteoarthritis Very frequent [Orphanet] 78 / 7739
10
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
11
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
12
 (HPO:0010582) Irregular epiphyses 19 / 7739
13
 (HPO:0004279) Short palm 323 / 7739
14
 (HPO:0003071) Flattened epiphysis 14 / 7739
15
 (HPO:0002970) Genu varum Occasional [Orphanet] 60 / 7739
16
 (HPO:0001367) Abnormal joint morphology Frequent [Orphanet] 53 / 7739
17
 (HPO:0003502) Mild short stature 19 / 7739
18
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: