Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency

Description

Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.

Genes related to Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency

ITGA7

Clinical Features

Top most frequent phenotypes and symptoms related to Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency

Intellectual disability
Generalized hypotonia
Scoliosis
Motor delay
Muscle weakness
Cognitive impairment
Myopathy
Skeletal muscle atrophy
Elevated serum creatine phosphokinase
Neonatal hypotonia

And another 11 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency have a estimated prevalence of 0.03 per 100k worldwide.

Accelerate your rare disease diagnosis with us

Learn more

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Muscular Dystrophy Advanced Sequencing Evaluation. By Athena Diagnostics Inc in United States. FKTN, POMGNT1, DNM2, LMNA, FKRP, FHL1, SELENON, POMT2, POMT1, TCAP, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1 , (...) View the complete list with 3 more genes Panel GTR000552527 complete gene list FKTN, POMGNT1, DNM2, LMNA, FKRP, FHL1, SELENON, POMT2, POMT1, TCAP, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7 Specificity 5 % Genes 100 %
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...) View the complete list with 124 more genes Panel GTR000556370 complete gene list ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1, TYMP, PHKA1, CHAT, SUCLG1, PYGM, PMM2, MGME1, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, FIG4, TRPV4, HSPB8, HSPB1, DNM2, LMNA, CLCN1, PABPN1, FKRP, CAV3, UBA1, DYSF, SCN4A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BSCL2, BAG3, FHL1, SELENON, CACNA1S, RYR1, SETX, DCTN1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, VRK1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, DNMT1, CHRNG, LAMP2, LAS1L, PLEKHG5, HINT1, GAN, FBXL4, AMPD1, COL12A1, GLE1, KLHL41, LIMS2, MYF6, TNPO3, TNNI2, MTMR14, HNRNPDL, SLC5A7, TOR1AIP1, POMK, STAC3, SPEG, LMOD3, GMPPB Specificity 1 % Genes 100 %
Comprehensive Neuromuscular Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN , (...) View the complete list with 59 more genes Panel GTR000552180 complete gene list GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, PABPN1, FKRP, CAV3, DYSF, SCN4A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, SELENON, RYR1, TPM3, ACTA1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, VRK1, IGHMBP2, SYNE1, SYNE2, EMD, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, CHRNG, RYR2, PLEKHG5, AMPD1, GLE1, TNNI2, MTMR14 Specificity 2 % Genes 100 %
Congenital Muscular Dystrophy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7 Specificity 5 % Genes 100 %
Neuromuscular Disorders Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB , (...) View the complete list with 91 more genes Panel GTR000529457 complete gene list GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, FKRP, CAV3, DYSF, SCN4A, LAMB2, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BAG3, FHL1, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, TCAP, SGCD, ISPD, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, SNAP25, LAMP2, FKBP14, TNXB, CHST14, MYL2, COL12A1, KLHL41, LIMS2, MYF6, TNPO3, HNRNPDL, POMK, STAC3, SPEG, LMOD3, GMPPB, STIM1, ORAI1, COL13A1, HACD1, SYT2, PREPL, LRP4, ALG14 Specificity 1 % Genes 100 %
Congenital Muscular Dystrophy Deletion/Duplication Analysis. By Genetic Services Laboratory University of Chicago in United States. GAA, DPM3, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, SYNE1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1 , (...) View the complete list with 6 more genes Panel GTR000506307 complete gene list GAA, DPM3, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, SYNE1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, POMK Specificity 4 % Genes 100 %
Congenital Muscular Dystrophy Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. GAA, DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, SYNE1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2 , (...) View the complete list with 7 more genes Panel GTR000506308 complete gene list GAA, DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, SYNE1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, POMK Specificity 4 % Genes 100 %
Muscular dystrophy, congenital, due to ITGA7 deficiency (sequence analysis of ITGA7 gene). By CGC Genetics in Portugal. ITGA7 Specificity 100 % Genes 100 %
Congenital muscular dystrophies (NGS panel for 31 genes). By CGC Genetics in Portugal. CAVIN1, DMD, FKTN, POMGNT1, DNM2, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...) View the complete list with 11 more genes Panel GTR000525266 complete gene list CAVIN1, DMD, FKTN, POMGNT1, DNM2, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP, ISPD, SMCHD1, LAMA2, DPM2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, GMPPB Specificity 4 % Genes 100 %
Congenital Muscular Dystrophy Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. DPM3, DPM1, DMD, FKTN, POMGNT1, LMNA, FKRP, EMD, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...) View the complete list with 7 more genes Panel GTR000505633 complete gene list DPM3, DPM1, DMD, FKTN, POMGNT1, LMNA, FKRP, EMD, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, COL12A1, POMK, GMPPB Specificity 4 % Genes 100 %
Integrin Alpha 7-Related Congenital Myopathy Testing via the ITGA7 Gene. By PreventionGenetics PreventionGenetics in United States. ITGA7 Specificity 100 % Genes 100 %
Comprehensive Neuromuscular Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE , (...) View the complete list with 104 more genes Panel GTR000552444 complete gene list AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, SYNE1, TMEM43, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, SNAP25, CHRNG, COL12A1, GLE1, KLHL41, LIMS2, TNPO3, TNNI2, HNRNPDL, TOR1AIP1, POMK, STAC3, LMOD3, GMPPB, TNNT3, MYH3, ECEL1, STIM1, MICU1, COL13A1, SYT2, PREPL, ALG14, HNRNPA2B1, HNRNPA1, MYO18B Specificity 1 % Genes 100 %
Newborn: “Floppy Infant “. By MGZ Medical Genetics Center in Germany. GAA, GARS, MFN2, ALG2, CHAT, GBE1, DPAGT1, CHRNE, DOK7, FKTN, NEB, POMGNT1, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA , (...) View the complete list with 53 more genes Panel GTR000521064 complete gene list GAA, GARS, MFN2, ALG2, CHAT, GBE1, DPAGT1, CHRNE, DOK7, FKTN, NEB, POMGNT1, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA, FKRP, UBA1, SCN4A, TTN, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, BICD2, IGHMBP2, SYNE1, PLEC, POMT2, POMT1, TCAP, ISPD, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, CUL4B, LAMP2, LAS1L, FKBP14, POMK, GMPPB, ALG14, SLC52A3 Specificity 2 % Genes 100 %
Muscle Weakness (Myopathy, Muscular Dystrophy). By MGZ Medical Genetics Center in Germany. TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...) View the complete list with 159 more genes Panel GTR000521098 complete gene list TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA, VCP, MTO1, AGK, TMEM70, CAVIN1, PGM1, SLC25A3, PNPLA2, POLG2, TK2, GFM1, HADHB, ALG2, SCO2, PUS1, TAZ, ABHD5, LPIN1, COX15, ISCU, CPT1A, CHAT, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, SEPT9, KIF21A, SDHA, DPAGT1, DMD, PHOX2B, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA, CLCN1, FKRP, CAV3, UBA1, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, HSPG2, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, GOSR2, HNRNPU, SNAP25, CUL4B, MYH14, LAMP2, LAS1L, FKBP14, TNXB, HINT1, AARS, AMPD1, COL12A1, LIMS2, MYF6, TNPO3, MTMR14, TOR1AIP1, POMK, STAC3, GMPPB, PIEZO2, MYBPC1, FDX2, PGK1, HADH, STIM1, ORAI1, MICU1, PREPL, LRP4, ALG14, SLC52A3, GLRB, GLRA1, SLC6A5 Specificity 1 % Genes 100 %
Myopathy due to Integrin 7A deficiency. By Centogene AG - the Rare Disease Company in Germany. ITGA7 Specificity 100 % Genes 100 %
Muscular Dystrophies Panel. By CeGaT GmbH in Germany. CAVIN1, DPM1, DMD, FKTN, POMGNT1, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...) View the complete list with 12 more genes Panel GTR000522468 complete gene list CAVIN1, DPM1, DMD, FKTN, POMGNT1, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP, ISPD, SMCHD1, LAMA2, DPM2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, ALG13, GMPPB Specificity 4 % Genes 100 %
Invitae Comprehensive Neuromuscular Disorders Panel. By Invitae in United States. GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...) View the complete list with 84 more genes Panel GTR000551683 complete gene list GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, SMN2, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, KCNJ2, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, LAMP2, FKBP14, MYPN, MYL2, KLHL41, TNPO3, POMK, STAC3, LMOD3, GMPPB, STIM1, VMA21 Specificity 1 % Genes 100 %
Invitae Comprehensive Muscular Dystrophy Panel. By Invitae in United States. GAA, TRIM32, DPM3, PNPLA2, DPM1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT , (...) View the complete list with 26 more genes Panel GTR000551761 complete gene list GAA, TRIM32, DPM3, PNPLA2, DPM1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, FHL1, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, TNPO3, POMK, GMPPB Specificity 3 % Genes 100 %
Invitae Congenital Muscular Dystrophy Panel. By Invitae in United States. DPM3, DPM1, DMD, FKTN, POMGNT1, LMNA, FKRP, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...) View the complete list with 6 more genes Panel GTR000551774 complete gene list DPM3, DPM1, DMD, FKTN, POMGNT1, LMNA, FKRP, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, POMK, GMPPB Specificity 4 % Genes 100 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel. By Invitae in United States. TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA , (...) View the complete list with 93 more genes Panel GTR000551814 complete gene list TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, DNM2, LMNA, FKRP, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, MATR3, ATP2A1, BAG3, FHL1, SELENON, RYR1, MYBPC3, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, TMEM43, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, HCN4, SCN5A, CACNA1C, LAMP2, FKBP14, ABCC9, PKP2, RYR2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, MYPN, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, KLHL41, TNPO3, POMK, STAC3, LMOD3, GMPPB, VCL, STIM1 Specificity 1 % Genes 100 %
DYSTROPHIES, CONGENITAL MUSCULAR. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. FKTN, POMGNT1, FKRP, SELENON, POMT2, POMT1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7 Specificity 9 % Genes 100 %
Congenital Muscular Dystrophy with Integrin Alpha 7 Deficiency: ITGA7 Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ITGA7 Specificity 100 % Genes 100 %
Congenital Muscular Dystrophy with Integrin Alpha 7 Deficiency: ITGA7 Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ITGA7 Specificity 100 % Genes 100 %
Congenital Muscular Dystrophy: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...) View the complete list with 4 more genes Panel GTR000503227 complete gene list DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7 Specificity 5 % Genes 100 %
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. GAA, GNE, TRIM32, PYGM, PMM2, DMD, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES , (...) View the complete list with 26 more genes Panel GTR000512422 complete gene list GAA, GNE, TRIM32, PYGM, PMM2, DMD, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5, MYOT, SELENON, RYR1, TPM3, ACTA1, TPM2, TNNT1, EMD, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, RYR2, AMPD1, TNNI2, AMPD3 Specificity 3 % Genes 100 %
Expanded Neuromuscular Disorders: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...) View the complete list with 58 more genes Panel GTR000512597 complete gene list GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, PABPN1, FKRP, CAV3, DYSF, SCN4A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, SELENON, RYR1, TPM3, ACTA1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, VRK1, IGHMBP2, SYNE1, EMD, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, CHRNG, RYR2, PLEKHG5, AMPD1, GLE1, TNNI2, MTMR14, AMPD3 Specificity 2 % Genes 100 %
Congenital Muscular Dystrophy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...) View the complete list with 4 more genes Panel GTR000558806 complete gene list DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7 Specificity 5 % Genes 100 %
Expanded Neuromuscular Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...) View the complete list with 57 more genes Panel GTR000558837 complete gene list GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, PABPN1, FKRP, CAV3, DYSF, SCN4A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, SELENON, RYR1, TPM3, ACTA1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, VRK1, IGHMBP2, SYNE1, EMD, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, CHRNG, RYR2, PLEKHG5, AMPD1, GLE1, TNNI2, MTMR14 Specificity 2 % Genes 100 %
Intellectual Disability NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...) View the complete list with 372 more genes Panel GTR000509442 complete gene list BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2, PAX6, TUBB3, MTR, CPS1, PYCR1, GNPTAB, CC2D2A, SRD5A3, HSD17B10, ELOVL4, NDP, TMEM67, NPHP3, MKKS, CEP290, HSPD1, GCK, SLC25A13, MECP2, FBN1, PDSS1, ALDH18A1, TMEM70, PHKA2, XPNPEP3, PYGL, PHKG2, SLC25A12, GAMT, SPR, STXBP1, TUBA1A, DARS2, TUSC3, HAX1, GFM1, COG7, AP3B1, ALG12, ALG6, MPI, MYO7A, STRA6, D2HGDH, AIFM1, ACSL4, AMER1, SLC9A6, ABCD1, MMADHC, LMBRD1, GM2A, HEXB, SLC35C1, ACOX1, PAH, CTSA, GUSB, SGSH, MOCS2, NDUFA1, NDUFS1, NDUFAF5, CYB5R3, DBT, MANBA, MAN2B1, SUCLG1, ALDH4A1, SLC25A15, CBS, GBE1, GALE, GLYCTK, ASS1, CYP27A1, MGAT2, BBS9, SOX2, CLN3, PPOX, KIF21A, SLC6A8, MTFMT, PDHX, HPD, TSHR, FGFR3, AR, ARX, GBA, CDKL5, CHD7, DHCR7, DMD, FOXG1, IDS, KRAS, MEF2C, NPC1, NPC2, PCDH19, PLP1, PTPN11, RAI1, SLC2A1, TINF2, WDR62, FGFR2, HDAC8, TSC2, SYNGAP1, SMC1A, TSC1, NIPBL, ATM, NBN, CDKN1C, BRIP1, PRKAR1A, FKTN, PEX7, SGCA, SLC7A7, SACS, TH, MCOLN1, POMGNT1, PLA2G6, RAPSN, DPYD, TMEM216, MPZ, SPTLC1, ATL1, ZFYVE26, SCN1A, MAPT, AHI1, FKRP, NF1, FGFR1, KCNJ11, POU1F1, GHR, AVPR2, KIF5A, L1CAM, KIF1A, BIN1, DYNC1H1, POMT2, POMT1, SYT14, SIL1, GRM1, FGF14, LAMA2, LARGE1, ITGA7, MCPH1, ASPM, ATP1A2, CPA6, KCTD7, PRICKLE1, GRIN2B, KCNQ2, CHRNA4, GABRG2, GRIN2A, MBD5, TBC1D24, PIGO, PQBP1, TUBA8, PAFAH1B1, SRPX2, TUBB2B, MFSD8, ATP13A2, ST3GAL3, SCN8A, NRXN1, GRIN1, DYRK1A, PIGV, SPTAN1, SAMHD1, KCNJ10, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, SYP, GRIA3, PAK3, KDM5C, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, VPS13B, GFAP, TBX1, LBR, SHANK3, SHANK2, ERCC2, ERCC3, SOX10, KIRREL3, FOXP1, EHMT1, AP1S2, ARID1B, CTNNB1, NLGN3, CANT1, PHF8, IGBP1, HUWE1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RAB40AL, ZDHHC9, BRWD3, SLC16A2, SOX3, NSDHL, ARHGEF6, IL1RAPL1, TWIST1, NSUN2, TGIF1, ZIC2, PCNT, NAGA, FBN2, ABCC6, GNPTG, GLI3, GAN, LYST, SLC4A4, SDCCAG8, ERCC6, SMARCA4, SMARCB1, ARID1A, ADAR, AP4S1, AP4B1, AP4E1, AP4M1, KIF11, PGK1, LHX3, THRB, ALX4, EFNB1, GNPAT, CTC1, NHP2, GNAS, FANCG, ABCG5, SLX4, CP, SATB2, SLC6A4, RPGRIP1L, KIF7, CEP41, RBBP8, MYCN, VLDLR, ALG11, COG5, TMEM165, SLC46A1, TPK1, SLC20A2, MAT1A, APOB, SLC2A2, RFX6, DHCR24, MYO5A, INSR, ERCC8, STX11, G6PC3, NHEJ1, LIG4, STAT5B, GSS, TTC37, PIGL, HEPACAM, ZFP57, PDE4D, CCDC88C, MED17, CRADD, CACNG2, TECR, MED23, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, ORC1, WRN, SLC5A5, TBCE, ACY1, CAMTA1, ERCC5, UROC1, WDR81, BUB1B, AP1S1, AVP, NGF, HOXD10, FAM126A, TRHR, SLC5A2, GLRA1, IGF1, HDAC4, MRAP, IGF1R, AGT, IRX5, TMCO1, ZBTB16, FTO, CEP57, UPB1, KCNK9, DIP2B, GLUL, ZBTB24, SNIP1, XIST, AFP, TPH2, AQP7 Specificity 1 % Genes 100 %
Neuromuscular NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. TRIM32, PMM2, DMD, FKTN, NEB, PEX2, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5 , (...) View the complete list with 30 more genes Panel GTR000509454 complete gene list TRIM32, PMM2, DMD, FKTN, NEB, PEX2, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5, MYOT, SELENON, RYR1, TPM3, ACTA1, TPM2, TNNT1, EMD, PLEC, POMT2, POMT1, TCAP, SGCD, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, PEX6, PEX14, PEX3, PEX26, PEX12, PEX5, RYR2, AMPD1, TNNI2, AMPD3 Specificity 2 % Genes 100 %
ITGA7. By Fulgent Genetics Fulgent Genetics in United States. ITGA7 Specificity 100 % Genes 100 %
LGMD and Congenital Muscular Dystrophy Panel. By Blueprint Genetics in Finland. TRIM32, CRYAB, PNPLA2, DMD, FKTN, SGCA, SGCB, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, MYH7, ANO5, MYOT, SELENON, MEGF10 , (...) View the complete list with 22 more genes Panel GTR000552811 complete gene list TRIM32, CRYAB, PNPLA2, DMD, FKTN, SGCA, SGCB, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, MYH7, ANO5, MYOT, SELENON, MEGF10, SYNE1, TRAPPC11, DNAJB6, POMT1, TCAP, SGCD, ISPD, SMCHD1, LAMA2, POMGNT2, LARGE1, B3GALNT2, ITGA7, COL4A1, LIMS2, TNPO3, TOR1AIP1, SPEG, GMPPB, POGLUT1, COL4A2, VMA21 Specificity 3 % Genes 100 %
Comprehensive Muscular Dystrophy / Myopathy Panel. By Blueprint Genetics in Finland. GAA, TRIM32, POLG, CRYAB, PNPLA2, SEPT9, DMD, FKTN, NEB, SGCA, SGCB, SGCG, CAPN3, LMNA, PABPN1, FKRP, CAV3, DYSF, TTN, DES , (...) View the complete list with 53 more genes Panel GTR000552812 complete gene list GAA, TRIM32, POLG, CRYAB, PNPLA2, SEPT9, DMD, FKTN, NEB, SGCA, SGCB, SGCG, CAPN3, LMNA, PABPN1, FKRP, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, ATP2A1, BAG3, FHL1, SELENON, KLHL40, TPM3, ACTA1, MEGF10, KBTBD13, CFL2, TPM2, TNNT1, MTM1, SYNE1, TMEM43, EMD, TRAPPC11, DNAJB6, POMT1, TCAP, SGCD, ISPD, SMCHD1, LAMA2, POMGNT2, COL6A2, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, COL4A1, VPS13A, MME, COL12A1, KLHL41, LIMS2, TNPO3, TOR1AIP1, SPEG, LMOD3, GMPPB, MICU1, POGLUT1, RBCK1, COL4A2, VMA21, TMEM126B Specificity 2 % Genes 100 %
Congenital Muscular Dystrophies, Panel Massive Sequencing (NGS) 12 Genes. By Reference Laboratory Genetics in Spain. FKTN, POMGNT1, FKRP, SELENON, POMT2, POMT1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7 Specificity 9 % Genes 100 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes. By Reference Laboratory Genetics in Spain. GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...) View the complete list with 91 more genes Panel GTR000559873 complete gene list GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, RAPSN, TRPV4, DNM2, LMNA, CLCN1, PABPN1, FKRP, CAV3, UBA1, DYSF, SCN4A, TOR1A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, ATP2A1, BSCL2, BAG3, FHL1, SELENON, CACNA1S, RYR1, TPM3, ACTA1, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, DYNC1H1, VRK1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, PEX6, CACNA1C, PEX14, PEX3, PEX26, PEX10, PEX12, PEX5, CHRNG, LAMP2, RYR2, PLEKHG5, AMPD1, GLE1, TNNI2, MTMR14, TNNT3, PEX11B, AMPD3 Specificity 1 % Genes 100 %

Alternate names

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Is also known as myopathy, congenital, due to integrin alpha-7 deficiency;congenital muscular dystrophy with itga7 deficiency.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A FACIOSCAPULOHUMERAL DYSTROPHY DESANTO-SHINAWI SYNDROME; DESSH BIOTINIDASE DEFICIENCY SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI