Variant Abeta2m Amyloidosis

Table of contents:

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

Description

Autosomal dominant beta 2-microglobulinic amyloidosis is a form of amyloidosis (see this term), characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin (D76N variant β2M) leading to progressive gastrointestinal dysfunction, Sjögren syndrome (see this term) and autonomic neuropathy.

Genes related to Variant Abeta2m Amyloidosis

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Variant Abeta2m Amyloidosis

Constipation
Weight loss
Malabsorption
Vertigo
Gastrointestinal hemorrhage
Chronic diarrhea
Abnormal autonomic nervous system physiology
Bowel incontinence
Keratoconjunctivitis sicca
Xerostomia

And another 6 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Variant Abeta2m Amyloidosis Is also known as autosomal dominant beta2-microglobulinic amyloidosis.

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.

Variant Abeta2m Amyloidosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hyperferritinemia Panel. By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina). SEC23B, SLC40A1, TF, TFR2, HAMP, CDAN1, CP, STEAP3, SLC25A38, ALAS2, FTH1, FTL, HFE, HJV, B2M Specificity 7 % Genes 100 %
Hereditary amyloidosis (NGS panel of 19 genes). By CGC Genetics (Portugal). TACSTD2, TGFBI, TNFRSF1A, TTR, NLRP3, IL31RA, CST3, F10, FGA, GSN, APP, LYZ, MEFV, OSMR, B2M, PRNP, RET Specificity 6 % Genes 100 %
Hereditary amyloidosis (NGS panel of 19 genes). By CGC Genetics (Portugal). TACSTD2, TGFBI, TNFRSF1A, TTR, NLRP3, IL31RA, CST3, F10, FGA, GSN, APP, LYZ, MEFV, OSMR, B2M, PRNP, RET Specificity 6 % Genes 100 %
Hereditary Amyloidosis, gene sequencing panel. By Molecular Diagnostics Laboratory University of Toledo Medical Center (United States). TTR, FGA, GSN, LYZ, B2M Specificity 20 % Genes 100 %
Custom gene seqeuncing panel. By Molecular Diagnostics Laboratory University of Toledo Medical Center (United States). RYR1, SDHA, SDHC, EPCAM, TP53, TSC1, TSC2, TTR, VHL, CACNA1S, POT1, CDK4, CDKN2A, ACD, FLCN, FGA, FH, GSN, LYZ, MC1R , (...) View the complete list with 9 more genes Panel complete gene list RYR1, SDHA, SDHC, EPCAM, TP53, TSC1, TSC2, TTR, VHL, CACNA1S, POT1, CDK4, CDKN2A, ACD, FLCN, FGA, FH, GSN, LYZ, MC1R, MET, MITF, MLH1, MSH2, MSH6, PMS2, B2M, BAP1, PTEN Specificity 4 % Genes 100 %
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel. By Invitae (United States). STK4, TAPBP, TNFRSF4, CD27, CD40LG, ZAP70, CARD11, CD3D, CD3E, CD3G, CD247, CD8A, LRBA, DCLRE1C, ADA, DOCK8, CORO1A, CTPS1, NHEJ1, MAGT1 , (...) View the complete list with 29 more genes Panel complete gene list STK4, TAPBP, TNFRSF4, CD27, CD40LG, ZAP70, CARD11, CD3D, CD3E, CD3G, CD247, CD8A, LRBA, DCLRE1C, ADA, DOCK8, CORO1A, CTPS1, NHEJ1, MAGT1, DOCK2, AK2, TAP1, TAP2, ICOS, IKBKB, IL21, IL21R, IL2RG, IL7R, ITK, JAK3, LCK, LIG4, MALT1, MAP3K14, RHOH, CIITA, PNP, B2M, PRKDC, PTPRC, RAC2, RAG1, RAG2, BCL10, RFX5, RFXANK, RFXAP Specificity 3 % Genes 100 %
Invitae Primary Immunodeficiency Panel. By Invitae (United States). RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...) View the complete list with 187 more genes Panel complete gene list RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2, TERC, TERT, TINF2, TLR3, TNFRSF1A, TNFRSF4, FAS, CD27, TNFSF12, CD40LG, FASLG, TPP2, TRAF3, TREX1, ACP5, TYK2, UNG, WAS, WIPF1, FOXN1, ZAP70, ACTB, AICDA, TRAF3IP2, UNC93B1, ITCH, BLNK, NHP2, NOP10, LPIN2, VPS45, CASP10, CASP8, SPINK5, IL36RN, RBCK1, RTEL1, SAMHD1, CARD9, CARD11, NLRP3, IL17F, NLRC4, CARD14, CD3D, CD3E, CD3G, CD247, HAX1, CD79A, CD79B, CD8A, TRNT1, LRBA, DCLRE1B, DCLRE1C, TNFRSF13C, IRAK4, TMC6, TNFRSF13B, TICAM1, IL17RC, CEBPE, ADA2, RNASEH2A, ADA, IFIH1, DOCK8, ADAM17, LYST, TTC7A, SLC35C1, TMC8, CHD7, ZBTB24, VPS13B, COPA, ADAR, CORO1A, NLRP12, SLC29A3, UNC13D, FERMT3, CR2, RNASEH2C, CSF2RA, CSF3R, G6PC3, MOGS, CTLA4, ACD, CTPS1, CTSC, CXCR4, RNASEH2B, NHEJ1, CYBA, CYBB, ORAI1, CTC1, JAGN1, TMEM173, MAGT1, DKC1, EPG5, DNMT3B, LAMTOR2, DOCK2, CLPB, ELANE, FADD, AIRE, AK2, FPR1, ISG15, SLC37A4, GATA2, GFI1, TAP1, TAP2, NOD2, ICOS, IRF8, SP110, IFNGR1, IFNGR2, AP3B1, IGLL1, XIAP, IKBKB, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL7R, FOXP3, IRF7, ITGB2, ITK, JAK3, LCK, LIG4, MALT1, MAP3K14, RHOH, MEFV, CIITA, MVK, MYD88, NBN, NCF2, NCF4, NFAT5, NFKB2, NFKBIA, PNP, ATM, BLOC1S6, PARN, PGM3, PIK3CD, PIK3R1, PLCG2, PMS2, B2M, POLE, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, BCL10, RFX5, RFXANK, RFXAP Specificity 1 % Genes 100 %
Invitae Combined Immunodeficiency (CID) Panel. By Invitae (United States). STK4, TAPBP, TNFRSF4, CD27, CD40LG, ZAP70, CARD11, CD3G, CD8A, LRBA, DOCK8, CTPS1, MAGT1, DOCK2, TAP1, TAP2, ICOS, IKBKB, IL21, IL21R , (...) View the complete list with 12 more genes Panel complete gene list STK4, TAPBP, TNFRSF4, CD27, CD40LG, ZAP70, CARD11, CD3G, CD8A, LRBA, DOCK8, CTPS1, MAGT1, DOCK2, TAP1, TAP2, ICOS, IKBKB, IL21, IL21R, ITK, LCK, MALT1, MAP3K14, RHOH, CIITA, B2M, RAC2, BCL10, RFX5, RFXANK, RFXAP Specificity 4 % Genes 100 %

You can get up to 11 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTOPENIA 3; THC3 METHYLMALONIC ACIDURIA, cblB TYPE EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1; FAME1