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.

Top 5 symptoms associated to A2M gene



Symptoms // Phenotype % Cases
Autosomal dominant inheritance Common - Between 50% and 80% cases
Dementia Common - Between 50% and 80% cases
Aggressive behavior Common - Between 50% and 80% cases
Encephalopathy Common - Between 50% and 80% cases
Milia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with A2M gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Intellectual disability

Not very common - Between 30% and 50% cases

Global brain atrophy Increased body weight Ventricular tachycardia Hypercalciuria Drooling Bone pain Abnormality of the hand

And 108 more phenotypes.

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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.


ALPHA-2-MACROGLOBULIN DEFICIENCY; A2MD

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

  • Autosomal dominant inheritance


More info about ALPHA-2-MACROGLOBULIN DEFICIENCY; A2MD

SOURCES: MONDO OMIM UMLS MESH

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

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Milia
  • Cognitive impairment


More info about ALZHEIMER DISEASE; AD

SOURCES: MONDO UMLS SCTID OMIM ICD10

WILSON DISEASE

Alternate names

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

Description

Wilson disease is an autosomal recessive disorder characterized by dramatic build-up of intracellular hepatic copper with subsequent hepatic and neurologic abnormalities.De Bie et al. (2007) provided a detailed review of the molecular pathogenesis of Wilson disease.

Most common symptoms of WILSON DISEASE

  • Autosomal recessive inheritance
  • Intellectual disability
  • Pica
  • Growth delay
  • Failure to thrive


More info about WILSON DISEASE

SOURCES: ICD10 GARD OMIM MONDO MESH NCIT ORPHANET DOID SCTID

Potential gene panels for A2M gene

Platelet Disorders Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Platelet Disorders that also includes the following genes: RUNX1 DTNBP1 HPS1 HPS6 HPS5 HPS4 HPS3 AP3B1 ANKRD26 DPAGT1

More info about this panel

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

By CGC Genetics in Portugal.

This panel specifically test the A2M gene.

More info about this panel

Alpha-2-macroglobulin deficiency Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the A2M gene.

More info about this panel

AllNeuro panel Panel

By Centogene AG - the Rare Disease Company in Germany. AllNeuro panel that also includes the following genes: F2 F5 FMR1 HTT HFE MTHFR TTR UBE3A VHL PTEN

More info about this panel

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

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

More info about this panel

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

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

More info about this panel

Parkinson-Alzheimer-Dementia NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: TYROBP APP PSEN1 POLG HTRA2 GRN PARK7 PINK1 PRKN SNCB

More info about this panel

A2M Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the A2M gene.

More info about this panel

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

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

More info about this panel


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