ADAMTS1 gene related symptoms and diseases
All the information presented here about the ADAMTS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ADAMTS1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Brain atrophy | Very Common - Between 80% and 100% cases |
Long-tract signs | Very Common - Between 80% and 100% cases |
Cerebral amyloid angiopathy | Very Common - Between 80% and 100% cases |
Stroke-like episode | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ADAMTS1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Senile plaques
- Lewy bodies
- Neurofibrillary tangles
- Alzheimer disease
- Neuronal loss in central nervous system
- Memory impairment
- Parkinsonism
- Seizures
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ADAMTS1 gene
Here you will find a list of rare diseases related to the ADAMTS1. 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
Search interest in ADAMTS1
Potential gene panels for ADAMTS1 gene
ADAMTS1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ADAMTS1 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PCSK9 MECOM CYP2C9 TCHH MAGED2 GDF2 TNNT1