Multiple Epiphyseal Dysplasia Type 5
Description
Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.
Clinical Features
Top most frequent phenotypes and symptoms related to Multiple Epiphyseal Dysplasia Type 5
- Short stature
- Pain
- Gait disturbance
- Fatigue
- Abnormality of the skeletal system
- Arthralgia
- Joint stiffness
- Genu valgum
- Limitation of joint mobility
- Waddling gait
And another 20 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Multiple Epiphyseal Dysplasia Type 5 Is also known as multiple epiphyseal dysplasia, matn3-related, polyepiphyseal dysplasia type 5, microepiphyseal dysplasia, bilateral hereditary, edm5, bhmed, med5, bilateral hereditary micro-epiphyseal dysplasia.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Multiple Epiphyseal Dysplasia Type 5 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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MATN3. Sequencing of the exon 2.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
MATN3
Specificity
100 %
Genes
100 % |
MATN3. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
MATN3
Specificity
100 %
Genes
100 % |
Epiphyseal dysplasia multiple (NGS panel for 7 gene).
By CGC Genetics (Portugal).
SLC26A2, COL9A1, COL9A2, COL9A3, COMP, MATN3
Specificity
17 %
Genes
100 % |
Multiple Epiphyseal Dysplasia via MATN3 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
MATN3
Specificity
100 %
Genes
100 % |
Multiple Epiphyseal Dysplasia Sequencing Panel.
By PreventionGenetics PreventionGenetics (United States).
SLC26A2, COL9A1, COL9A2, COL9A3, COMP, MATN3
Specificity
17 %
Genes
100 % |
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)
View the complete list with 236 more genes
Specificity
1 %
Genes
100 % |
Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel.
By Connective Tissue Gene Tests (United States).
SLC26A2, CANT1, COL9A1, COL9A2, COL9A3, COMP, MATN3
Specificity
15 %
Genes
100 % |
Multiple epiphyseal dysplasia (MED) NGS panel.
By Connective Tissue Gene Tests (United States).
SLC26A2, CANT1, COL9A1, COL9A2, COL9A3, COMP, MATN3
Specificity
15 %
Genes
100 % |
You can get up to 33 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET MESH Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STICKLER SYNDROME, TYPE I; STL1 KERATOCONUS 1; KTCN1 NEPHROGENIC DIABETES INSIPIDUS HEMIHYPERPLASIA, ISOLATED; IH ALOPECIA-MENTAL RETARDATION SYNDROME 1; APMR1 CHROMOSOME 16p12.2-p11.2 DELETION SYNDROME, 7.1- TO 8.7-MB MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID