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.

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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

SOURCES: OMIM ORPHANET

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


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

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

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

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

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

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

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

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

NEDD4L Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NEDD4L 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


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