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.
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
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
Search interest in ERMARD
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 United States.
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 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.
C6orf70 Panel
Denmark.
By Amplexa Genetics Amplexa Genetics A/S
This panel specifically test the ERMARD gene.
More info about this panel Denmark.
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 Estonia.
ERMARD Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ERMARD gene.
More info about this panel United States.
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