ERMARD gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to ERMARD gene

Symptoms // Phenotype % Cases
Heterotopia Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Strabismus Very Common - Between 80% and 100% cases
Hypsarrhythmia Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ERMARD gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Intellectual disability, mild
  • Abnormality of neuronal migration
  • Cerebellar hypoplasia
  • Abnormal facial shape
  • Hypertelorism
  • Delayed speech and language development
  • Not very common - Between 30% and 50% cases

  • Low-set, posteriorly rotated ears
  • Joint laxity

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

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Rare diseases associated to ERMARD gene

Here you will find a list of rare diseases related to the ERMARD. 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 6; PVNH6


Most common symptoms of PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6

  • Seizures
  • Global developmental delay
  • Strabismus
  • Delayed speech and language development
  • Hypsarrhythmia


More info about PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6

SOURCES: OMIM

6Q TERMINAL DELETION SYNDROME


Description

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Most common symptoms of 6Q TERMINAL DELETION SYNDROME

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


More info about 6Q TERMINAL DELETION SYNDROME

SOURCES: ORPHANET


Potential gene panels for ERMARD gene

Cerebral Cortical Malformation Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformation Sequencing Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1

More info about this panel

Cerebral Cortical Malformations Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformations Deletion/Duplication Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1

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

C6orf70 Panel

Denmark.

By Amplexa Genetics Amplexa Genetics A/S

This panel specifically test the ERMARD gene.

More info about this panel

Brain malformations Panel

Estonia.

By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB

More info about this panel

ERMARD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ERMARD gene.

More info about this panel


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