X-linked Emery-dreifuss Muscular Dystrophy

Table of contents:

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

Genes related to X-linked Emery-dreifuss Muscular Dystrophy

FHL1
EMD

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Clinical Features

Top most frequent phenotypes and symptoms related to X-linked Emery-dreifuss Muscular Dystrophy

Intellectual disability
Scoliosis
Muscular hypotonia
Ptosis
Gait disturbance
Ventriculomegaly
Short neck
Myopathy
Kyphosis
Obesity

And another 56 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY have a estimated prevalence of 1 per 100k in Europe.
— 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.

X-linked Emery-dreifuss Muscular Dystrophy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Myofibrillar Myopathy Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). MYOT, TTN, LDB3, SELENON, CRYAB, DES, FHL1, FLNC, BAG3 Specificity 12 % Genes 50 %
Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). SYNE2, SYNE1, TMEM43, EMD, FHL1, LMNA Specificity 34 % Genes 100 %
Muscular Dystrophy Advanced Evaluation. By Athena Diagnostics Inc (United States). SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5 , (...) View the complete list with 13 more genes Panel complete gene list SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5, DES, TMEM43, SMCHD1, DMD, DYSF, EMD, FKTN, FHL1, ISPD, LMNA, PLEC, POMT1, CAVIN1 Specificity 7 % Genes 100 %
Congenital Muscular Dystrophy Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). TCAP, RXYLT1, B4GAT1, SELENON, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, POMGNT2, B3GALNT2, DNM2, DPM2, FKTN, FHL1, ISPD, ITGA7, LAMA2 , (...) View the complete list with 3 more genes Panel complete gene list TCAP, RXYLT1, B4GAT1, SELENON, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, POMGNT2, B3GALNT2, DNM2, DPM2, FKTN, FHL1, ISPD, ITGA7, LAMA2, LARGE1, LMNA, POMT1 Specificity 5 % Genes 50 %
Comprehensive Cardiac Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...) View the complete list with 86 more genes Panel complete gene list RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, CACNA1C, CACNA2D1, PRDM16, CACNB2, JPH2, ACTC1, CALM1, CALM2, CASQ2, CAV3, CBL, SHOC2, LDB3, ANKRD1, MYLK2, ACTN2, SLMAP, HCN4, NEBL, RANGRF, TRPM4, FKRP, MTO1, SCN3B, MYPN, DOLK, CRYAB, CSRP3, NKX2-5, TMEM70, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, AGL, EMD, FKTN, FHL1, AKAP9, GAA, ALMS1, GLA, ANK2, HRAS, ABCC9, ILK, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LMNA, MAP2K1, MAP2K2, MYBPC3, MYH6, MYH7, MYL2, MYL3, NRAS, PKP2, PLN, ACADVL, PRKAG2, BAG3, PTPN11, RAF1 Specificity 2 % Genes 100 %
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...) View the complete list with 124 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, UBA1, VCP, VRK1, ACTA1, RXYLT1, FBXL4, CACNA1S, SLC5A7, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, BSCL2, SELENON, LIMS2, MGME1, TRIM32, FIG4, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, BICD2, RRM2B, FKRP, TRPV4, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, AGK, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, GNE, CRYAB, SIL1, LAS1L, TRAPPC11, REEP1, POMGNT2, MTMR14, POMK, DOK7, DAG1, DCTN1, ANO5, DES, STAC3, TMEM43, B3GALNT2, SMCHD1, PLEKHG5, DMD, TOR1AIP1, DYNC1H1, MEGF10, DNM2, DNMT1, DPM1, DPM2, DPM3, HSPB8, KLHL40, PNPLA2, DYSF, TYMP, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GAN, GARS, GLE1, SETX, AMPD1, HINT1, HNRNPDL, HSPB1, IGHMBP2, ITGA7, LAMA2, LAMP2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYF6, MYH2, MYH7, NEB, ATP2A1, PABPN1, ATP7A, PHKA1, PLEC, PMM2, POLG, POLG2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 2 % Genes 100 %
Comprehensive Neuromuscular Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3 , (...) View the complete list with 59 more genes Panel complete gene list RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3, CAV3, LDB3, BSCL2, SELENON, TRIM32, SYNE2, SYNE1, FKRP, CFL2, CHAT, POMGNT1, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, COL6A1, COL6A2, COL6A3, COLQ, GNE, CRYAB, SIL1, MTMR14, DOK7, DAG1, ANO5, DES, PLEKHG5, DMD, DNM2, DYSF, EMD, FKTN, FHL1, ISPD, FLNC, GAA, GLE1, AMPD1, IGHMBP2, ITGA7, LAMA2, LARGE1, LMNA, MTM1, MUSK, MYH2, MYH7, NEB, PABPN1, PLEC, PMM2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 3 % Genes 100 %
Limb-Girdle Muscular Dystrophy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, VCP, CAPN3, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, COL6A1, COL6A2, COL6A3, GNE , (...) View the complete list with 14 more genes Panel complete gene list SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, VCP, CAPN3, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, COL6A1, COL6A2, COL6A3, GNE, DAG1, ANO5, DES, DMD, DYSF, EMD, FKTN, FHL1, ISPD, FLNC, GAA, LMNA, PLEC, POMT1 Specificity 6 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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