B2M gene related symptoms and diseases

All the information presented here about the B2M gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to B2M gene

Symptoms // Phenotype % Cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Bronchiectasis Uncommon - Between 30% and 50% cases
Proteinuria Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Hearing impairment Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with B2M gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Recurrent respiratory infections
  • Subcutaneous nodule
  • Inflammatory abnormality of the skin
  • Sepsis
  • Diabetes mellitus
  • Bronchiolitis
  • Granulomatosis
  • Hypoplasia of the ulna

And 60 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to B2M gene

Here you will find a list of rare diseases related to the B2M. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AMYLOIDOSIS, FAMILIAL VISCERAL


Alternate names

AMYLOIDOSIS, FAMILIAL VISCERAL Is also known as german type amyloidosis, amyloidosis, systemic nonneuropathic, amyloidosis viii, amyloidosis, familial renal, ostertag type amyloidosis

Most common symptoms of AMYLOIDOSIS, FAMILIAL VISCERAL

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Peripheral neuropathy


More info about AMYLOIDOSIS, FAMILIAL VISCERAL

SOURCES: ORPHANET OMIM

IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1


Alternate names

IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1 Is also known as bls, type i, bare lymphocyte syndrome type 1, hla class i deficiency

Description

Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.

Most common symptoms of IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1

  • Diarrhea
  • Immunodeficiency
  • Abnormal lung morphology
  • Bronchiectasis
  • Skin ulcer


More info about IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1

SOURCES: OMIM ORPHANET

IMMUNODEFICIENCY 43; IMD43


Alternate names

IMMUNODEFICIENCY 43; IMD43 Is also known as beta-2-microglobulin deficiency, b2m deficiency, hypoproteinemia, hypercatabolic

Most common symptoms of IMMUNODEFICIENCY 43; IMD43

  • Immunodeficiency
  • Recurrent respiratory infections
  • Diabetes mellitus
  • Proteinuria
  • Sepsis


More info about IMMUNODEFICIENCY 43; IMD43

SOURCES: OMIM MESH

VARIANT ABETA2M AMYLOIDOSIS


Alternate names

VARIANT ABETA2M AMYLOIDOSIS Is also known as autosomal dominant beta2-microglobulinic 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.

Most common symptoms of VARIANT ABETA2M AMYLOIDOSIS

  • Constipation
  • Weight loss
  • Malabsorption
  • Vertigo
  • Gastrointestinal hemorrhage


More info about VARIANT ABETA2M AMYLOIDOSIS

SOURCES: ORPHANET


Potential gene panels for B2M gene

Hyperferritinemia Panel Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Hyperferritinemia Panel that also includes the following genes: SEC23B SLC40A1 TF TFR2 HAMP CDAN1 CP STEAP3 SLC25A38 ALAS2

More info about this panel

Hereditary amyloidosis (NGS panel of 19 genes) Panel

Portugal.

By CGC Genetics Hereditary amyloidosis (NGS panel of 19 genes) that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN

More info about this panel

Hereditary amyloidosis (NGS panel of 19 genes) Panel

Portugal.

By CGC Genetics Hereditary amyloidosis (NGS panel of 19 genes) that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN

More info about this panel

Hereditary Amyloidosis, gene sequencing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Hereditary Amyloidosis, gene sequencing panel that also includes the following genes: TTR FGA GSN LYZ B2M

More info about this panel

Custom gene seqeuncing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom gene seqeuncing panel that also includes the following genes: RYR1 SDHA SDHC EPCAM TP53 TSC1 TSC2 TTR VHL CACNA1S

More info about this panel

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Panel

United States.

By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3D CD3E CD3G

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Combined Immunodeficiency (CID) Panel Panel

United States.

By Invitae Invitae Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3G CD8A LRBA

More info about this panel

B2M Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the B2M gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

Focus::DLBCL&FL™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::DLBCL&FL™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS

More info about this panel

Focus::Lymphoma™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Lymphoma™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS

More info about this panel

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

AMYLOIDOSIS HEREDITARY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL AMYLOIDOSIS HEREDITARY NGS PANEL that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN

More info about this panel

AMYLOIDOSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL AMYLOIDOSIS that also includes the following genes: TTR IL31RA FGA GSN LYZ OSMR B2M

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Familial Amyloidosis and Related Disorders , Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Amyloidosis and Related Disorders , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: TTR IL31RA FGA GSN LYZ OSMR B2M

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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