HIVEP2 gene related symptoms and diseases

All the information presented here about the HIVEP2 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 HIVEP2 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Anxiety Uncommon - Between 30% and 50% cases
Autism Uncommon - Between 30% and 50% cases
Narrow mouth Uncommon - Between 30% and 50% cases
High forehead Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HIVEP2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Gastroesophageal reflux
  • Umbilical hernia
  • Thin upper lip vermilion
  • Autistic behavior
  • Constipation
  • Attention deficit hyperactivity disorder
  • Prominent nasal bridge
  • Poor speech

And 24 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HIVEP2 gene

Here you will find a list of rare diseases related to the HIVEP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43


Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

SOURCES: OMIM

AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY



More info about AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: ORPHANET


Potential gene panels for HIVEP2 gene

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C

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

HIVEP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HIVEP2 gene.

More info about this panel


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