MCID: EPP013
MIFTS: 25

Epiphyseal Dysplasia, Multiple, 5

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 5

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 5:

Name: Epiphyseal Dysplasia, Multiple, 5 57 13 73
Multiple Epiphyseal Dysplasia 5 53 75 29 6
Edm5 57 53 59 75
Bhmed 57 59
Microepiphyseal Dysplasia, Bilateral Hereditary; Bhmed 57
Microepiphyseal Dysplasia, Bilateral Hereditary 57
Bilateral Hereditary Micro-Epiphyseal Dysplasia 59
Multiple Epiphyseal Dysplasia, Matn3-Related 57
Multiple Epiphyseal Dysplasia, Matn3 Related 53
Dysplasia, Epiphyseal, Multiple, Type 5 40
Multiple Epiphyseal Dysplasia Type 5 59
Epiphyseal Dysplasia Multiple 5 53
Polyepiphyseal Dysplasia Type 5 59
Med5 59

Characteristics:

Orphanet epidemiological data:

59
multiple epiphyseal dysplasia type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see edm1 )
allelic to spondyloepimetaphyseal dysplasia, matn-3 related
allelic to hand osteoarthritis


HPO:

32
epiphyseal dysplasia, multiple, 5:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 607078
Orphanet 59 ORPHA93311
UMLS via Orphanet 74 C1846843
ICD10 via Orphanet 34 Q77.3
MESH via Orphanet 45 C535505
MedGen 42 C1846843
MeSH 44 D010009
UMLS 73 C1846843

Summaries for Epiphyseal Dysplasia, Multiple, 5

UniProtKB/Swiss-Prot : 75 Multiple epiphyseal dysplasia 5: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis.

MalaCards based summary : Epiphyseal Dysplasia, Multiple, 5, also known as multiple epiphyseal dysplasia 5, is related to multiple epiphyseal dysplasia and med23, and has symptoms including hip pain and knee pain. An important gene associated with Epiphyseal Dysplasia, Multiple, 5 is MATN3 (Matrilin 3). Affiliated tissues include bone, and related phenotypes are osteoarthritis and genu valgum

Description from OMIM: 607078

Related Diseases for Epiphyseal Dysplasia, Multiple, 5

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 5

Symptoms via clinical synopsis from OMIM:

57
Skeletal Pelvis:
coxa vara
broad, short femoral neck
small proximal femoral epiphyses
arthralgia (hip)
high greater trochanter

Growth Height:
normal stature

Skeletal Hands:
delayed carpal ossification
small, irregular epiphyses (first metacarpal)

Skeletal:
multiple epiphyseal dysplasia
early onset osteoarthritis

Skeletal Limbs:
genua valga
small, irregular epiphyses (distal femoral, proximal tibiae, distal radii, distal ulnae)
mild metaphyseal irregularities (distal femoral, proximal tibiae, proximal humeri, distal radii, distal ulnae)
arthralgias (knees)
submetaphyseal vertical striations

Skeletal Feet:
delayed tarsal ossification


Clinical features from OMIM:

607078

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002758
2 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
3 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
4 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
5 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
6 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
7 epiphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002656
8 genu varum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002970
9 limitation of joint mobility 59 Frequent (79-30%)
10 coxa vara 32 HP:0002812
11 multiple epiphyseal dysplasia 32 HP:0002654
12 small epiphyses 32 HP:0010585
13 irregular epiphyses 32 HP:0010582
14 broad femoral neck 32 HP:0006429
15 short femoral neck 32 HP:0100864
16 arthralgia of the hip 32 HP:0003365
17 metaphyseal irregularity 32 HP:0003025
18 hypoplasia of the capital femoral epiphysis 32 HP:0003090
19 premature osteoarthritis 32 HP:0003088
20 delayed tarsal ossification 32 HP:0008103
21 delayed ossification of carpal bones 32 HP:0001216

UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 5:


hip pain, knee pain

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 5

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 5

Genetic Tests for Epiphyseal Dysplasia, Multiple, 5

Genetic tests related to Epiphyseal Dysplasia, Multiple, 5:

# Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 5 29 MATN3

Anatomical Context for Epiphyseal Dysplasia, Multiple, 5

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 5:

41
Bone

Publications for Epiphyseal Dysplasia, Multiple, 5

Variations for Epiphyseal Dysplasia, Multiple, 5

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

75 (show all 15)
# Symbol AA change Variation ID SNP ID
1 MATN3 p.Arg121Trp VAR_013691 rs104893637
2 MATN3 p.Val194Asp VAR_013692 rs104893645
3 MATN3 p.Thr120Met VAR_019882 rs397515546
4 MATN3 p.Ala128Pro VAR_019883 rs104893641
5 MATN3 p.Glu134Lys VAR_019884
6 MATN3 p.Ile192Asn VAR_019885
7 MATN3 p.Ala219Asp VAR_019886 rs28939677
8 MATN3 p.Phe105Ser VAR_020844
9 MATN3 p.Arg70His VAR_054807 rs104893640
10 MATN3 p.Thr195Lys VAR_054808
11 MATN3 p.Tyr218Asn VAR_054809
12 MATN3 p.Ala173Asp VAR_066831 rs779413744
13 MATN3 p.Arg209Pro VAR_066832 rs749845872
14 MATN3 p.Lys231Asn VAR_066833 rs773642745
15 MATN3 p.Val245Met VAR_066834 rs182164052

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 MATN3 NM_002381.4(MATN3): c.581T> A (p.Val194Asp) single nucleotide variant Pathogenic rs104893645 GRCh37 Chromosome 2, 20205714: 20205714
2 MATN3 NM_002381.4(MATN3): c.581T> A (p.Val194Asp) single nucleotide variant Pathogenic rs104893645 GRCh38 Chromosome 2, 20005953: 20005953
3 MATN3 NM_002381.4(MATN3): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic rs104893637 GRCh37 Chromosome 2, 20205934: 20205934
4 MATN3 NM_002381.4(MATN3): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic rs104893637 GRCh38 Chromosome 2, 20006173: 20006173
5 MATN3 NM_002381.4(MATN3): c.656C> A (p.Ala219Asp) single nucleotide variant Pathogenic rs28939677 GRCh37 Chromosome 2, 20205639: 20205639
6 MATN3 NM_002381.4(MATN3): c.656C> A (p.Ala219Asp) single nucleotide variant Pathogenic rs28939677 GRCh38 Chromosome 2, 20005878: 20005878
7 MATN3 NM_002381.4(MATN3): c.209G> A (p.Arg70His) single nucleotide variant Pathogenic rs104893640 GRCh37 Chromosome 2, 20212184: 20212184
8 MATN3 NM_002381.4(MATN3): c.209G> A (p.Arg70His) single nucleotide variant Pathogenic rs104893640 GRCh38 Chromosome 2, 20012423: 20012423
9 MATN3 NM_002381.4(MATN3): c.382G> C (p.Ala128Pro) single nucleotide variant Pathogenic rs104893641 GRCh37 Chromosome 2, 20205913: 20205913
10 MATN3 NM_002381.4(MATN3): c.382G> C (p.Ala128Pro) single nucleotide variant Pathogenic rs104893641 GRCh38 Chromosome 2, 20006152: 20006152
11 MATN3 NM_002381.4(MATN3): c.359C> T (p.Thr120Met) single nucleotide variant Pathogenic rs397515546 GRCh37 Chromosome 2, 20205936: 20205936
12 MATN3 NM_002381.4(MATN3): c.359C> T (p.Thr120Met) single nucleotide variant Pathogenic rs397515546 GRCh38 Chromosome 2, 20006175: 20006175

Expression for Epiphyseal Dysplasia, Multiple, 5

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 5.

Pathways for Epiphyseal Dysplasia, Multiple, 5

GO Terms for Epiphyseal Dysplasia, Multiple, 5

Sources for Epiphyseal Dysplasia, Multiple, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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