Variant Abeta2m Amyloidosis

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.

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.

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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

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.


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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
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
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
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
Specificity
4 %
Genes
100 %

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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 TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE; PHPVAR EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA; EBSPA

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