BIVM-ERCC5 gene related symptoms and diseases

All the information presented here about the BIVM-ERCC5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BIVM-ERCC5 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Erythema Very Common - Between 80% and 100% cases
Bilateral microphthalmos Very Common - Between 80% and 100% cases
Infantile spasms Very Common - Between 80% and 100% cases
Neoplasm of the skin Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with BIVM-ERCC5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Broad-based gait
  • Cutaneous photosensitivity
  • Intention tremor
  • Congenital cataract
  • Small for gestational age
  • Mental deterioration
  • Hearing impairment
  • Pes cavus

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to BIVM-ERCC5 gene

Here you will find a list of rare diseases related to the BIVM-ERCC5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG


Alternate names

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG Is also known as xp, group g, xpgc, xeroderma pigmentosum vii, xp7

Description

For a general description of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ). Complementation group G has one of the smallest series of cases (Arlett et al., 1980).

Most common symptoms of XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay


More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG

SOURCES: MESH OMIM




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