NEDD4L gene related symptoms and diseases
All the information presented here about the NEDD4L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NEDD4L gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Cryptorchidism | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
| Heterotopia | Very Common - Between 80% and 100% cases |
| Cortical dysplasia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with NEDD4L gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Syndactyly
- Abnormality of neuronal migration
- Abnormal facial shape
- Global developmental delay
- Strabismus
Not very common - Between 30% and 50% cases
- Generalized hypotonia
- Emphysema
- Bifid uvula
And 48 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NEDD4L gene
Here you will find a list of rare diseases related to the NEDD4L. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PERIVENTRICULAR NODULAR HETEROTOPIA
Alternate names
PERIVENTRICULAR NODULAR HETEROTOPIA Is also known as heterotopia, periventricular, ehlers-danlos variant, periventricular nodular heterotopia 4, formerly, heterotopia, familial nodular, heterotopia, periventricular, x-linked dominant, pvnh4, formerly, nhbp, nodular heterotopia, bilateral periventricular, bpnh
Description
Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.
Most common symptoms of PERIVENTRICULAR NODULAR HETEROTOPIA
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Hypertelorism
More info about PERIVENTRICULAR NODULAR HETEROTOPIA
PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7
Description
Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.
Most common symptoms of PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7
SOURCES: OMIM
Search interest in NEDD4L
Potential gene panels for NEDD4L gene
NGS Epilepsy/Seizure Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Periventricular nodular heterotopia (NGS panel of 8 genes) Panel
Portugal.
By CGC Genetics Periventricular nodular heterotopia (NGS panel of 8 genes) that also includes the following genes: DCHS1 ARFGEF2 ERMARD FAT4 FLNA FMR1 LRP2 NEDD4L
More info about this panel Portugal.
Periventricular nodular heterotopia (NGS panel of 8 genes) Panel
Portugal.
By CGC Genetics Periventricular nodular heterotopia (NGS panel of 8 genes) that also includes the following genes: DCHS1 ARFGEF2 ERMARD FAT4 FLNA FMR1 LRP2 NEDD4L
More info about this panel Portugal.
Liddle syndrome Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Liddle syndrome that also includes the following genes: SCNN1B SCNN1G STK39 NEDD4 NEDD4L NR3C2 OXSR1
More info about this panel Germany.
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.
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 Germany.
Early-Onset Epileptic Encephalopathy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
NEDD4L Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NEDD4L gene.
More info about this panel United States.
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 Portugal.
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