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.
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
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
Search interest in NPRL3
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 Germany.
NPRL3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NPRL3 gene.
More info about this panel United States.
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