Epiphyseal Dysplasia, Multiple, 3; Edm3
Description
Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (OMIM ).
Clinical Features
Top most frequent phenotypes and symptoms related to Epiphyseal Dysplasia, Multiple, 3; Edm3
- Short stature
- Muscle weakness
- Pain
- Fatigue
- Myopathy
- Elevated serum creatine phosphokinase
- Difficulty walking
- Proximal muscle weakness
- Limb muscle weakness
- Lower limb muscle weakness
And another 13 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.
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.Epiphyseal Dysplasia, Multiple, 3; Edm3 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() By Athena Diagnostics Inc (United States).
BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)
View the complete list with 149 more genes
Specificity
1 %
Genes
100 % |
![]() By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).
BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...)
View the complete list with 45 more genes
Specificity
2 %
Genes
100 % |
![]() By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).
COL11A1, COL11A2, COL9A1, COL9A2, COL9A3
Specificity
20 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
COL9A3
Specificity
100 %
Genes
100 % |
![]() By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
BCS1L, SIX1, SNAI2, SMPX, SOX10, SUCLA2, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CLIC5, CDH23, CABP2, PCDH15, OSBPL2 , (...)
View the complete list with 85 more genes
Specificity
1 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SOX10, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH2A, CLRN1, WFS1, CDH23, CACNA1D, PCDH15, ANKH, ABHD12, CD151 , (...)
View the complete list with 41 more genes
Specificity
2 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
SLC26A2, COL9A1, COL9A2, COL9A3, COMP, MATN3
Specificity
17 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SNAI2, SMPX, SOX10, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, TYR, USH1C, USH2A, CLRN1, TSPEAR, WFS1 , (...)
View the complete list with 105 more genes
Specificity
1 %
Genes
100 % |
You can get up to 64 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM MESH Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14