SORL1 gene related symptoms and diseases
All the information presented here about the SORL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SORL1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Myoclonus | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
| Neurofibrillary tangles | Very Common - Between 80% and 100% cases |
| Alzheimer disease | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SORL1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Memory impairment
- Parkinsonism
- Dementia
Not very common - Between 30% and 50% cases
- Neurodevelopmental abnormality
- Apraxia
- Deposits immunoreactive to beta-amyloid protein
- Hallucinations
- Oculomotor apraxia
And 30 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SORL1 gene
Here you will find a list of rare diseases related to the SORL1. 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.
Most common symptoms of ALZHEIMER DISEASE; AD
- Intellectual disability
- Seizures
- Spasticity
- Cognitive impairment
- Edema
More info about ALZHEIMER DISEASE; AD
SOURCES: OMIM
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
Search interest in SORL1
Potential gene panels for SORL1 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.
Alzheimers disease, early onset AD (sequence analysis of SORL1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SORL1 gene.
More info about this panel Portugal.
Alzheimer disease (NGS panel for 8 genes) Panel
Portugal.
By CGC Genetics Alzheimer disease (NGS panel for 8 genes) that also includes the following genes: SNCA SNCB SORL1 APOE APP PRNP PSEN1 PSEN2
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.
Alzheimers disease, early onset, autosomal dominant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SORL1 gene.
More info about this panel Germany.
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.
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.
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.
SORL1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SORL1 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.
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.
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