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.
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
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
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
Search interest in TREM2
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 United States.
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 United States.
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 United States.
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 Spain.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
Single gene testing TREM2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the TREM2 gene.
More info about this panel Germany.
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 Germany.
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 Poland.
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 Spain.
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 Netherlands.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
TREM2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TREM2 gene.
More info about this panel United States.
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 Finland.
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 Spain.
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 Spain.
Nasu-Hakola Disease , Sequencing TREM2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TREM2 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Canada.
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