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.


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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.


Alternate names

ALZHEIMER DISEASE; AD Is also known as presenile and senile dementia


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

  • Intellectual disability
  • Seizures
  • Spasticity
  • Cognitive impairment
  • Edema



Potential gene panels for ADAMTS1 gene


United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADAMTS1 gene.

More info about this panel

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