Myopathy, X-linked, With Excessive Autophagy; Meax

Table of contents:

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

Description

X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.

Genes related to Myopathy, X-linked, With Excessive Autophagy; Meax

VMA21

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Clinical Features

Top most frequent phenotypes and symptoms related to Myopathy, X-linked, With Excessive Autophagy; Meax

Global developmental delay
Generalized hypotonia
Scoliosis
Muscle weakness
Flexion contracture
High palate
Feeding difficulties
Motor delay
Skeletal muscle atrophy
Respiratory insufficiency

And another 29 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

Myopathy, X-linked, With Excessive Autophagy; Meax Is also known as xmea.

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.

Myopathy, X-linked, With Excessive Autophagy; Meax Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Myopathy, with excessive autophagy, X-linked (sequence analysis of VMA21 gene). By CGC Genetics (Portugal). VMA21 Specificity 100 % Genes 100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes). By CGC Genetics (Portugal). SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...) View the complete list with 88 more genes Panel complete gene list SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST, CLCN7, VIPAS39, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, BLOC1S3, VMA21, PEX26, GNPTG, LMBRD1, MFF, CTNS, CTSD, CTSF, CTSK, FAR1, HGSNAT, MFSD8, DNASE1, GNPTAB, DNM1L, LAMTOR2, ATP13A2, ECM1, AGA, EHHADH, AGPS, AGXT, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GNPAT, AMACR, GRN, GUSB, HEXA, HPS1, HSD17B4, HYAL1, IDH1, IDS, IDUA, IGF2R, AP3B1, LAMP2, LIPA, ABCD3, ABCD4, MAN2B1, MANBA, ARSA, ARSB, ASAH1, TRIM37, NAGA, NAGLU, NEU1, NPC1, ATP6V1B1, ATP6V1B2, ATP6V0A4, ATP6AP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PHYH, PMVK, PPARG, CTSA, PPT1, PSAP, PEX19, PEX2, PEX5 Specificity 1 % Genes 100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes). By CGC Genetics (Portugal). SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...) View the complete list with 88 more genes Panel complete gene list SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST, CLCN7, VIPAS39, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, BLOC1S3, VMA21, PEX26, GNPTG, LMBRD1, MFF, CTNS, CTSD, CTSF, CTSK, FAR1, HGSNAT, MFSD8, DNASE1, GNPTAB, DNM1L, LAMTOR2, ATP13A2, ECM1, AGA, EHHADH, AGPS, AGXT, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GNPAT, AMACR, GRN, GUSB, HEXA, HPS1, HSD17B4, HYAL1, IDH1, IDS, IDUA, IGF2R, AP3B1, LAMP2, LIPA, ABCD3, ABCD4, MAN2B1, MANBA, ARSA, ARSB, ASAH1, TRIM37, NAGA, NAGLU, NEU1, NPC1, ATP6V1B1, ATP6V1B2, ATP6V0A4, ATP6AP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PHYH, PMVK, PPARG, CTSA, PPT1, PSAP, PEX19, PEX2, PEX5 Specificity 1 % Genes 100 %
Congenital and Distal Myopathies Panel. By CeGaT GmbH (Germany). RYR1, BIN1, STIM1, SUCLA2, TWNK, TIA1, TK2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, CCDC78, CASQ1, CAV3, MICU1, PUS1, CHCHD10 , (...) View the complete list with 53 more genes Panel complete gene list RYR1, BIN1, STIM1, SUCLA2, TWNK, TIA1, TK2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, CCDC78, CASQ1, CAV3, MICU1, PUS1, CHCHD10, LDB3, SELENON, TRIM32, SPEG, KLHL41, ACVR1, RRM2B, FKBP14, KLHL9, CFL2, CNTN1, COL12A1, VMA21, COL6A1, COL6A2, COL6A3, MYH14, GNE, CRYAB, YARS2, SIL1, ORAI1, MTMR14, ANO5, DES, STAC3, DNA2, MEGF10, DNM2, ISCU, KLHL40, DYSF, FHL1, KBTBD13, FLNC, MSTN, HNRNPA1, HNRNPA2B1, LAMP2, LMOD3, MATR3, MTM1, MYF6, MYH2, MYH7, NEB, OPA1, PABPN1, PLEC, POLG, POLG2, BAG3, HACD1 Specificity 2 % Genes 100 %
Invitae Comprehensive Neuromuscular Disorders Panel. By Invitae (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SMN1, SMN2, SQSTM1, STIM1, TAZ, TCAP, TIA1, TNNT1, TPM2, TPM3, MYOT, TTN, VCP , (...) View the complete list with 84 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SMN1, SMN2, SQSTM1, STIM1, TAZ, TCAP, TIA1, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1, CACNA1S, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, SELENON, TRIM32, KLHL41, TNPO3, FKRP, FKBP14, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, POMT2, CLCN1, CNTN1, VMA21, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, ALG2, MYPN, CPT2, GNE, CRYAB, TRAPPC11, POMGNT2, POMK, DOK7, DAG1, ANO5, DES, STAC3, B3GALNT2, DMD, MEGF10, DNM2, DPAGT1, DPM1, DPM2, DPM3, KLHL40, PNPLA2, DYSF, AGRN, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GFPT1, ITGA7, KCNJ2, LAMA2, LAMP2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYH2, MYH7, MYL2, NEB, ATP2A1, PLEC, POMT1, BAG3, RAPSN Specificity 1 % Genes 100 %
Invitae Autophagic Vacuolar Myopathy Panel. By Invitae (United States). VMA21, DES, LAMP2 Specificity 34 % Genes 100 %
VMA21. By Fulgent Genetics Fulgent Genetics (United States). VMA21 Specificity 100 % Genes 100 %
X-chromosome High Resolution microarray analysis. By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States). RP2, RPGR, RPL10, RPS6KA3, RS1, SAT1, SH2D1A, SHOX, SLC16A2, SLC35A2, SLC6A14, SLC6A8, SLC9A6, KDM5C, SMPX, SMS, SOX3, SRY, BTK, CDKL5 , (...) View the complete list with 140 more genes Panel complete gene list RP2, RPGR, RPL10, RPS6KA3, RS1, SAT1, SH2D1A, SHOX, SLC16A2, SLC35A2, SLC6A14, SLC6A8, SLC9A6, KDM5C, SMPX, SMS, SOX3, SRY, BTK, CDKL5, STS, SYN1, SYP, TAF1, TAZ, SERPINA7, TBX22, TIMM8A, TSPAN7, MED12, UBA1, UBE2A, UBQLN2, KDM6A, WAS, XK, ZIC3, ZNF41, ZNF711, ZNF81, FTSJ1, HDAC8, NSDHL, CACNA1F, PCDH19, NLGN4X, NLGN3, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, ZNF674, PORCN, ARX, PHF6, ATP6AP2, TMLHE, ZDHHC9, NAA10, CHM, GPR143, CLCN5, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, COL4A5, VMA21, COX7B, TRAPPC2, CSF2RA, ZC4H2, RAB40AL, OFD1, MAMLD1, CYBB, AMER1, DCX, CCNQ, MAGT1, DKC1, WDR45, DLG3, SHROOM4, DMD, CHRDL1, SRPX2, ALG13, EBP, EDA, EFNB1, EMD, AGTR2, F8, F9, ACSL4, FANCB, FHL1, FLNA, AFF2, ALAS2, G6PD, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GRIA3, AMELX, ABCB7, HSD17B10, HCCS, HCFC1, HPRT1, IDS, IGBP1, AP1S2, XIAP, IGSF1, IKBKG, IL1RAPL1, IL2RG, ABCD1, ANOS1, AR, L1CAM, LAMP2, MAOA, ARHGEF6, MECP2, MID1, ARSE, MTM1, NDP, NHS, NR0B1, OCRL, OPHN1, ATP2B3, OTC, PAK3, ATP7A, AIFM1, PDHA1, ATRX, CFP, PGK1, PHKA1, PHKA2, PIGA, AVPR2, PLP1, POLA1, POU3F4, PQBP1, PRPS1, RBM10 Specificity 1 % Genes 100 %

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Sources and references

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OMIM Rare Disease Symptoms Checker

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