EDNRB-AS1 gene related symptoms and diseases

All the information presented here about the EDNRB-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EDNRB-AS1 gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Hypopigmentation of the skin Very Common - Between 80% and 100% cases
Aganglionic megacolon Very Common - Between 80% and 100% cases
Albinism Very Common - Between 80% and 100% cases
Large for gestational age Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with EDNRB-AS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypopigmentation of the fundus
  • Abnormal auditory evoked potentials

Rare diseases associated to EDNRB-AS1 gene

Here you will find a list of rare diseases related to the EDNRB-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ABCD SYNDROME; ABCDS

Alternate names

ABCD SYNDROME; ABCDS Is also known as albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness

Most common symptoms of ABCD SYNDROME; ABCDS

  • Hearing impairment
  • Hypopigmentation of the skin
  • Aganglionic megacolon
  • Albinism
  • Large for gestational age


More info about ABCD SYNDROME; ABCDS

SOURCES: MESH OMIM ORPHANET



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