1. Mendelian
  2. Rare Disease Genes
  3. NOS3

NOS3 gene related symptoms and diseases

All the information presented here about the NOS3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to NOS3 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Edema Very Common - Between 80% and 100% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Stroke-like episode Uncommon - Between 30% and 50% cases
Cerebral amyloid angiopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NOS3 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Long-tract signs
  • Decreased level of GABA in serum
  • Hypertension
  • Intrauterine growth retardation
  • Intellectual disability
  • Senile plaques
  • Elevated hepatic transaminase
  • Proteinuria

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NOS3 gene

Here you will find a list of rare diseases related to the NOS3. 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. 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


More info about ALZHEIMER DISEASE; AD

SOURCES: OMIM

HELLP SYNDROME

Alternate names

HELLP SYNDROME Is also known as hemolysis-elevated liver enzymes-low platelets syndrome, toxemia of pregnancy, hemolysis, elevated liver enzymes, low platelets in pregnancy, preg1, pee

Description

Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011).Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) (Brown et al., 2000). Genetic Heterogeneity of Preeclampsia/EclampsiaSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (OMIM ) on chromosome 2p25, and PEE3 (OMIM ) on chromosome 9p13. PEE4 (OMIM ) is caused by mutation in the STOX1 gene (OMIM ) on chromosome 10q22. PEE5 (OMIM ) is caused by mutation in the CORIN gene (OMIM ) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (OMIM ) on chromosome 1q.

Most common symptoms of HELLP SYNDROME

  • Seizures
  • Hypertension
  • Intrauterine growth retardation
  • Edema
  • Renal insufficiency


More info about HELLP SYNDROME

SOURCES: OMIM ORPHANET MESH



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BCKDHA BMS1 WISP3