NPRL3 gene related symptoms and diseases

All the information presented here about the NPRL3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NPRL3 gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Left ventricular failure Uncommon - Between 30% and 50% cases
Chronic hemolytic anemia Uncommon - Between 30% and 50% cases
Hypochromic anemia Uncommon - Between 30% and 50% cases
Chronic myelogenous leukemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NPRL3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Microalbuminuria
  • Abnormal hemoglobin
  • Night sweats
  • Abnormality of the spleen
  • Hypoxemia
  • Pure red cell aplasia
  • Increased mean corpuscular volume
  • Atelectasis

And 72 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NPRL3 gene

Here you will find a list of rare diseases related to the NPRL3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SICKLE CELL ANEMIA


Alternate names

SICKLE CELL ANEMIA Is also known as sickle cell disease

Description

Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

Most common symptoms of SICKLE CELL ANEMIA

  • Intellectual disability
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


More info about SICKLE CELL ANEMIA

SOURCES: OMIM MESH ORPHANET

FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI


Alternate names

FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI Is also known as ffevf, familial partial epilepsy with variable foci

Description

Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.


More info about FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI

SOURCES: ORPHANET

EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3; FFEVF3


Description

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016).For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (OMIM ).

Most common symptoms of EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3; FFEVF3

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Autism


More info about EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3; FFEVF3

SOURCES: OMIM


Potential gene panels for NPRL3 gene

Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) Panel

Portugal.

By CGC Genetics Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) that also includes the following genes: NPRL3 CCND2 DEPDC5 EZH2 AKT3 MTOR PIK3CA PIK3R2

More info about this panel

Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) Panel

Portugal.

By CGC Genetics Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) that also includes the following genes: NPRL3 CCND2 DEPDC5 EZH2 AKT3 MTOR PIK3CA PIK3R2

More info about this panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5

More info about this panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

NPRL3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NPRL3 gene.

More info about this panel


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