NOS2 gene related symptoms and diseases

All the information presented here about the NOS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NOS2 gene

Symptoms // Phenotype % Cases
Anemia Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Nausea and vomiting Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Elevated C-reactive protein level Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NOS2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Pseudohypoaldosteronism
  • Esophageal stricture
  • Acantholysis
  • Abnormality of neutrophils
  • Abnormality of the urethra
  • Hypokalemic metabolic alkalosis
  • Dyspareunia
  • Hypertension

And 53 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NOS2 gene

Here you will find a list of rare diseases related to the NOS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


STEVENS-JOHNSON SYNDROME


Alternate names

STEVENS-JOHNSON SYNDROME Is also known as dermatostomatitis, stevens johnson type

Description

Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.

Most common symptoms of STEVENS-JOHNSON SYNDROME

  • Anemia
  • Visual impairment
  • Fever
  • Fatigue
  • Dysphagia


More info about STEVENS-JOHNSON SYNDROME

SOURCES: MESH OMIM ORPHANET

HYPERTENSION, ESSENTIAL


Alternate names

HYPERTENSION, ESSENTIAL Is also known as eht

Description

The Pickering school held that blood pressure has a continuous distribution, that multiple genes and multiple environmental factors determine the level of one's blood pressure just as the determination of stature and intelligence is multifactorial, and that 'essential hypertension' is merely the upper end of the distribution (Pickering, 1978). In this view the person with essential hypertension is one who happens to inherit an aggregate of genes determining hypertension (and also is exposed to exogenous factors that favor hypertension). The Platt school took the view that essential hypertension is a simple mendelian dominant trait (Platt, 1963). McDonough et al. (1964) defended the monogenic idea. See McKusick (1960) and Kurtz and Spence (1993) for reviews. Swales (1985) reviewed the Platt-Pickering controversy as an 'episode in recent medical history.' The Pickering point of view appears to be more consistent with the observations.

Most common symptoms of HYPERTENSION, ESSENTIAL

  • Hypertension
  • Hypertonia
  • Small for gestational age
  • Hypotension
  • Malnutrition


More info about HYPERTENSION, ESSENTIAL

SOURCES: OMIM

MALARIA


Description

Malaria is a preventable life-threatening parasitic disease caused by Plasmodium (P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.

Most common symptoms of MALARIA

  • Cognitive impairment
  • Anemia
  • Fever
  • Respiratory distress
  • Headache


More info about MALARIA

SOURCES: OMIM ORPHANET


Potential gene panels for NOS2 gene

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

NOS2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NOS2 gene.

More info about this panel

Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) Panel

Portugal.

By HeartGenetics, Genetics and Biotechnology, SA Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) that also includes the following genes: SCNN1A SCNN1B SLC12A3 CALCA WNK1 STK39 CLCNKA CLCNKB ADD1 ADRA1A

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RPS6KA3 CDKN1B PRKD2 SOST DNAJB11 PDGFRA

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