A2M gene related symptoms and diseases

All the information presented here about the A2M gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to A2M gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Edema Common - Between 50% and 80% cases
Dementia Common - Between 50% and 80% cases
Aggressive behavior Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with A2M gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Schizophrenia
  • Nephrocalcinosis
  • Leukopenia
  • Leukoencephalopathy
  • Drooling
  • Hypercalciuria
  • Abnormality of the hand
  • Back pain

And 116 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to A2M gene

Here you will find a list of rare diseases related to the A2M. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ALZHEIMER DISEASE; AD


Alternate names

ALZHEIMER DISEASE; AD Is also known as presenile and senile dementia

Description

Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT).Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease. Genetic Heterogeneity of Alzheimer DiseaseAlzheimer disease is a genetically heterogeneous disorder. See also AD2 (OMIM ), associated with the APOE*4 allele (OMIM ) on chromosome 19; AD3 (OMIM ), caused by mutation in the presenilin-1 gene (PSEN1 ) on 14q; and AD4 (OMIM ), caused by mutation in the PSEN2 gene (OMIM ) on 1q31.There is evidence for additional AD loci on other chromosomes; see AD5 (OMIM ) on 12p11, AD6 (OMIM ) on 10q24, AD7 (OMIM ) on 10p13, AD8 (OMIM ) on 20p, AD9 (OMIM ), associated with variation in the ABCA7 gene (OMIM ) on 19p13, AD10 (OMIM ) on 7q36, AD11 (OMIM ) on 9q22, AD12 (OMIM ) on 8p12-q22, AD13 (OMIM ) on 1q21, AD14 (OMIM ) on 1q25, AD15 (OMIM ) on 3q22-q24, AD16 (OMIM ) on Xq21.3, AD17 (OMIM ) on 6p21.2, and AD18 (OMIM ), associated with variation in the ADAM10 gene (OMIM ) on 15q21.Evidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease (OMIM ).Finally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; {103950.0005}), low density lipoprotein-related protein-1 (LRP1 ), the transferrin gene (TF ), the hemochromatosis gene (HFE ), the NOS3 gene (OMIM ), the vascular endothelial growth factor gene (VEGF ), the ABCA2 gene (OMIM ), and the TNF gene (OMIM ) (see MOLECULAR GENETICS).

Most common symptoms of ALZHEIMER DISEASE; AD

  • Intellectual disability
  • Seizures
  • Spasticity
  • Cognitive impairment
  • Edema


More info about ALZHEIMER DISEASE; AD

SOURCES: OMIM

WILSON DISEASE


Alternate names

WILSON DISEASE Is also known as wd, hepatolenticular degeneration, wnd

Description

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

Most common symptoms of WILSON DISEASE

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


More info about WILSON DISEASE

SOURCES: MESH OMIM ORPHANET

ALPHA-2-MACROGLOBULIN DEFICIENCY; A2MD


Most common symptoms of ALPHA-2-MACROGLOBULIN DEFICIENCY; A2MD

  • Abnormal lung morphology
  • Chronic lung disease
  • Chronic obstructive pulmonary disease


More info about ALPHA-2-MACROGLOBULIN DEFICIENCY; A2MD

SOURCES: OMIM MESH


Potential gene panels for A2M gene

Platelet Disorders Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Platelet Disorders that also includes the following genes: RUNX1 STIM1 TBXA2R TBXAS1 USF1 VPS33B VWF WAS GP6 HPS3

More info about this panel

Alpha-2-macroglobulin deficiency (sequence analysis of A2M gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the A2M gene.

More info about this panel

Alpha-2-macroglobulin deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the A2M gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Alzheimer: Apo-E, PSEN1, PSEN2, A2M and APP genes sequence analysis (select exons) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Alzheimer: Apo-E, PSEN1, PSEN2, A2M and APP genes sequence analysis (select exons) that also includes the following genes: APOE APP A2M PSEN1 PSEN2

More info about this panel

Alzheimer: Apo-E, PSEN1, PSEN2, APP, A2M and MAPT genes sequence analysis (select exons) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Alzheimer: Apo-E, PSEN1, PSEN2, APP, A2M and MAPT genes sequence analysis (select exons) that also includes the following genes: APOE APP MAPT A2M PSEN1 PSEN2

More info about this panel

Parkinson-Alzheimer-Dementia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: SLC6A3 SNCA SNCB TAF1 TH TYROBP UCHL1 VPS35 FBXO7 AAAS

More info about this panel

A2M Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the A2M gene.

More info about this panel

Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: C9orf72 GRN APOE APP MAPT A2M PSEN1 PSEN2

More info about this panel


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