Multiple epiphyseal dysplasia type 5

General Information (adopted from Orphanet):

Synonyms, Signs: MULTIPLE EPIPHYSEAL DYSPLASIA, MATN3-RELATED
MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY
BHMED
MED5
EDM5
Polyepiphyseal dysplasia type 5
Number of Symptoms 33
OrphanetNr: 93311
OMIM Id: 607078
ICD-10: Q77.3
UMLs: C1846843
MeSH: C535505
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:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
2
 (HPO:0002812) Coxa vara 58 / 7739
3
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
4
 (HPO:0002983) Micromelia Frequent [Orphanet] 130 / 7739
5
 (HPO:0008103) Delayed tarsal ossification 3 / 7739
6
 (HPO:0100864) Short femoral neck 36 / 7739
7
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
8
 (HPO:0001216) Delayed ossification of carpal bones 30 / 7739
9
 (HPO:0003088) Premature osteoarthritis 10 / 7739
10
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
11
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
12
 (HPO:0002758) Osteoarthritis Very frequent [Orphanet] 78 / 7739
13
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
14
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
15
 (HPO:0010582) Irregular epiphyses 19 / 7739
16
 (HPO:0001367) Abnormal joint morphology Frequent [Orphanet] 53 / 7739
17
 (HPO:0002970) Genu varum Occasional [Orphanet] 60 / 7739
18
 (HPO:0003365) Arthralgia of the hip 10 / 7739
19
 (HPO:0003090) Hypoplasia of the capital femoral epiphysis 15 / 7739
20
 (HPO:0002654) Multiple epiphyseal dysplasia 8 / 7739
21
 (HPO:0010585) Small epiphyses 16 / 7739
22
 (HPO:0002829) Arthralgia 79 / 7739
23
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
24
 (HPO:0006429) Broad femoral neck 18 / 7739
25
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
26
 (OMIM) Normal stature 7 / 7739
27
 (OMIM) Submetaphyseal vertical striations 1 / 7739
28
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
29
 (OMIM) High greater trochanter 1 / 7739
30
 (OMIM) Irregular, small epiphyses 6 / 7739
31
 (OMIM) Broad, short femoral neck 3 / 7739
32
 (OMIM) Mild metaphyseal irregularities (distal femoral, proximal tibiae, proximal humeri, distal radii, distal ulnae) 2 / 7739
33
 (OMIM) Early onset osteoarthritis 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mortier et al. (2001) reported a 3-generation Belgian family with an autosomal dominant form of multiple epiphyseal dysplasia (MED) characterized by easy fatigue and joint pain, mainly in the knees and hips, starting in early childhood; normal stature; ...
Molecular genetics OMIM In the family originally described by Mortier et al. (2001) with MED, Chapman et al. (2001) identified mutations in the MATN3 gene (602109.0001-602109.0002). The mutations occurred within the single von Willebrand factor A (vWFA) domain.

In ...