Multiple Epiphyseal Dysplasia Type 1

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

Genes related to Multiple Epiphyseal Dysplasia Type 1

COMP

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Clinical Features

Top most frequent phenotypes and symptoms related to Multiple Epiphyseal Dysplasia Type 1

Short stature
Brachydactyly
Gait disturbance
Severe short stature
Arthralgia
Joint stiffness
Genu valgum
Micromelia
Short palm
Limitation of joint mobility

And another 27 symptoms. If you need more information about this disease we can help you.

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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 1 Is also known as med1, edm1, multiple epiphyseal dysplasia, comp-related, polyepiphyseal dysplasia type 1.

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 1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Skeletal Dysplasia Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2 Specificity 13 % Genes 100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...) View the complete list with 17 more genes Panel complete gene list RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP, AGPS, EVC, FGFR1, FGFR2, FGFR3, FLNA, FLNB, ALPL, GNPAT, HSPG2, LBR, LIFR, ARSE, NEK1, PEX7, POR, PPIB Specificity 3 % Genes 100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...) View the complete list with 17 more genes Panel complete gene list RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP, AGPS, EVC, FGFR1, FGFR2, FGFR3, FLNA, FLNB, ALPL, GNPAT, HSPG2, LBR, LIFR, ARSE, NEK1, PEX7, POR, PPIB Specificity 3 % Genes 100 %
COMP. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). COMP Specificity 100 % Genes 100 %
FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TRIP11, EVC2, COL11A1, COL11A2, COMP, EVC, FGFR2 Specificity 15 % Genes 100 %
COMP. Sequencing of the exons 8-19. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). COMP Specificity 100 % Genes 100 %
COMP. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). COMP Specificity 100 % Genes 100 %
Pseudoachondroplasia (sequence analysis of COMP gene). By CGC Genetics (Portugal). COMP Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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