TREM2 gene related symptoms and diseases

All the information presented here about the TREM2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TREM2 gene

Symptoms // Phenotype % Cases
Memory impairment Common - Between 50% and 80% cases
Dysgraphia Common - Between 50% and 80% cases
Dementia Common - Between 50% and 80% cases
Apraxia Uncommon - Between 30% and 50% cases
Myoclonus Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TREM2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Frontotemporal dementia
  • Behavioral abnormality
  • Personality changes
  • Disinhibition
  • Neurofibrillary tangles
  • Aphasia
  • Parkinsonism
  • Mental deterioration

And 139 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TREM2 gene

Here you will find a list of rare diseases related to the TREM2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AMYOTROPHIC LATERAL SCLEROSIS


Alternate names

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als, amyotrophic lateral sclerosis 1, autosomal dominant, fals, lou gehrig disease, charcot disease, amyotrophic lateral sclerosis 1, familial

Description

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


More info about AMYOTROPHIC LATERAL SCLEROSIS

SOURCES: OMIM MESH ORPHANET

NASU-HAKOLA DISEASE


Alternate names

NASU-HAKOLA DISEASE Is also known as plosl, dementia, prefrontal, with bone cysts, plo-sl, dementia, progressive, with lipomembranous polycystic osteodysplasia, nasu-hakola disease, polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, brain-bone-fat disease, nhd, presenile d

Description

Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

Most common symptoms of NASU-HAKOLA DISEASE

  • Seizures
  • Pain
  • Spasticity
  • Gait disturbance
  • Ventriculomegaly


More info about NASU-HAKOLA DISEASE

SOURCES: ORPHANET MESH OMIM

SEMANTIC DEMENTIA


Alternate names

SEMANTIC DEMENTIA Is also known as semantic primary progressive aphasia, semantic variant ppa

Description

Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.

Most common symptoms of SEMANTIC DEMENTIA

  • Dementia
  • Neurological speech impairment
  • Brain atrophy
  • Aphasia
  • Dyslexia


More info about SEMANTIC DEMENTIA

SOURCES: ORPHANET

PROGRESSIVE NON-FLUENT APHASIA


Alternate names

PROGRESSIVE NON-FLUENT APHASIA Is also known as agramatic variant of primary progressive aphasia, agramatic variant of ppa, non-fluent variant ppa

Description

Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.

Most common symptoms of PROGRESSIVE NON-FLUENT APHASIA

  • Behavioral abnormality
  • Depressivity
  • Anxiety
  • Mental deterioration
  • Stroke


More info about PROGRESSIVE NON-FLUENT APHASIA

SOURCES: ORPHANET

EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE


Alternate names

EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE Is also known as early-onset familial autosomal dominant alzheimer disease, eofad, familial alzheimer disease

Description

Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.

Most common symptoms of EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE

  • Intellectual disability
  • Seizures
  • Ataxia
  • Hypertonia
  • Dementia


More info about EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE

SOURCES: ORPHANET

BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA


Alternate names

BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA Is also known as bv-ftd

Description

Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.

Most common symptoms of BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

  • Hyperreflexia
  • Gait disturbance
  • Behavioral abnormality
  • Aggressive behavior
  • Mental deterioration


More info about BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

SOURCES: ORPHANET


Potential gene panels for TREM2 gene

Dementia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dementia that also includes the following genes: SORL1 TARDBP VCP FIG4 OPTN TREM2 CSF1R CHMP2B DCTN1 C9orf72

More info about this panel

Dystonia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel

Movement Disorders Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX

More info about this panel

TREM2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TREM2 gene.

More info about this panel

Nasu-Hakola disease (sequence analysis of TREM2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TREM2 gene.

More info about this panel

Hereditary dementias (NGS panel for 28 genes) Panel

Portugal.

By CGC Genetics Hereditary dementias (NGS panel for 28 genes) that also includes the following genes: SNCA SNCB SORL1 TARDBP TIMM8A TUBA4A TYROBP UBQLN2 VCP CHCHD10

More info about this panel

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection that also includes the following genes: SOD1 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP OPTN CDH13 TREM2

More info about this panel

TREM2-Related Disorders via TREM2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TREM2 gene.

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11

More info about this panel

Dementia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Dementia Sequencing Panel with CNV Detection that also includes the following genes: SQSTM1 TARDBP TYROBP UBQLN2 TREM2 CHMP2B C9orf72 FUS GRN APP

More info about this panel

Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: TYROBP TREM2

More info about this panel

Alzheimer dementia and dementia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Alzheimer dementia and dementia panel that also includes the following genes: SORL1 TREM2 APOE APP PRNP PSEN1 PSEN2

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

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TREM2 gene.

More info about this panel

Frontotemporal Dementia (FTD) Panel Panel

Germany.

By CeGaT GmbH Frontotemporal Dementia (FTD) Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VCP CHCHD10 OPTN TREM2

More info about this panel

Basal ganglia calcification Panel Panel

Germany.

By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2

More info about this panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10

More info about this panel

Dementia all Panel Panel

Germany.

By CeGaT GmbH Dementia all Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TBP TUBA4A UBQLN2 VCP VPS35 MARK4

More info about this panel

Single gene testing TREM2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the TREM2 gene.

More info about this panel

Leukodystrophy / Leukoencephalopathy Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: SCP2 AIMP1 SLC16A2 SLC17A5 SOX10 ACOX1 TREX1 TYROBP VPS11 SAMHD1

More info about this panel

Alzheimer disease Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Alzheimer disease that also includes the following genes: SORL1 TREM2 GRN APP PSEN1 PSEN2

More info about this panel

Leukodistrophy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leukodistrophy that also includes the following genes: SCP2 AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1

More info about this panel

NGS panel - dementia Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - dementia that also includes the following genes: SNCA SNCB SOD1 SORL1 SQSTM1 TARDBP TYROBP UBAP1 UBQLN2 VAPB

More info about this panel

Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel that also includes the following genes: TNFRSF11A TYROBP ZMPSTE24 CASR SERPINH1 ANKH IFITM5 SP7 TREM2 FKBP10

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Dystonia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

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

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

TREM2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TREM2 gene.

More info about this panel

Dementia Panel Panel

Finland.

By Blueprint Genetics Dementia Panel that also includes the following genes: SNCA SORL1 TARDBP TUBA4A UBE3A UBQLN2 VCP TREM2 RNF216 CSF1R

More info about this panel

NASU-HAKOLA DISEASE (POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA) Panel

Spain.

By Laboratorio de Genetica Clinica SL NASU-HAKOLA DISEASE (POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA) that also includes the following genes: TYROBP TREM2

More info about this panel

DEMENTIA & ALZHEIMER: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DEMENTIA & ALZHEIMER: NGS PANEL that also includes the following genes: SORL1 TARDBP VCP TREM2 CSF1R CHMP2B FUS GRN APOE ITM2B

More info about this panel

Nasu-Hakola Disease , Sequencing TREM2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TREM2 gene.

More info about this panel

Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel

Spain.

By Reference Laboratory Genetics Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes that also includes the following genes: AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1 GJC2

More info about this panel

Osteolysis and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Osteolysis and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SQSTM1 TNFRSF11A TYROBP BANF1 TREM2 MMP2

More info about this panel

Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): gene sequencing panel that also includes the following genes: TYROBP TREM2

More info about this panel


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