EPIPHYSEAL DYSPLASIA, MULTIPLE, 6

General Information (adopted from Orphanet):

Synonyms, Signs: EDM6
Number of Symptoms 19
OrphanetNr:
OMIM Id: 614135
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003301) Irregular vertebral endplates 25 / 7739
2
(HPO:0006407) Irregular distal femoral epiphysis 2 / 7739
3
(HPO:0002654) Multiple epiphyseal dysplasia 8 / 7739
4
(HPO:0003370) Flat capital femoral epiphysis 15 / 7739
5
(HPO:0002815) Abnormality of the knee 19 / 7739
6
(HPO:0003365) Arthralgia of the hip 10 / 7739
7
(HPO:0002758) Osteoarthritis 78 / 7739
8
(HPO:0010585) Small epiphyses 16 / 7739
9
(HPO:0006398) Flat distal femoral epiphysis 2 / 7739
10
(HPO:0002829) Arthralgia 79 / 7739
11
(HPO:0010582) Irregular epiphyses 11565064 IBIS 19 / 7739
12
(OMIM) Early onset osteoarthritis 3 / 7739
13
(OMIM) Knee arthralgia 1 / 7739
14
(HPO:0030041) Schmorl's node 2 / 7739
15
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
(OMIM) Anterior osteophytes 2 / 7739
17
(OMIM) Hip arthralgia 1 / 7739
18
(OMIM) Schmorl nodes 3 / 7739
19
(HPO:0011463) Childhood onset 65 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Czarny-Ratajczak et al. (2001) reported a family with multiple epiphyseal dysplasia. The 30-year-old proband had knee pains and difficulty walking since 10 years of age. Radiographs showed early osteoarthritis of one knee, Schmorl's nodes, endplate irregularities, anterior osteophytes ...
Molecular genetics OMIM In a proband with multiple epiphyseal dysplasia, Czarny-Ratajczak et al. (2001) identified a heterozygous mutation in the COL9A1 gene (120210.0001). His affected mother had the same mutation, which was not found in his unaffected sister or in 600 ...