1. Mendelian
  2. Genes
  3. EXOSC2

EXOSC2 gene related symptoms and diseases

All the information presented here about the EXOSC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to EXOSC2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Sparse hair Very Common - Between 80% and 100% cases
Diabetes mellitus Very Common - Between 80% and 100% cases
Glaucoma Very Common - Between 80% and 100% cases
Hypothyroidism Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with EXOSC2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • High forehead
  • Thin upper lip vermilion
  • Deeply set eye
  • Low-set, posteriorly rotated ears
  • Broad nasal tip
  • Posteriorly rotated ears
  • Delayed myelination
  • Short palpebral fissure

And 29 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to EXOSC2 gene

Here you will find a list of rare diseases related to the EXOSC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Alternate names

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Description

SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

Most common symptoms of RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Nystagmus


More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for EXOSC2 gene

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

EXOSC2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EXOSC2 gene.

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CYP11B1 ATXN3 BCL10 TBX4 MLXIPL MUT SMC1A