LURAP1L-AS1 gene related symptoms and diseases

All the information presented here about the LURAP1L-AS1 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 LURAP1L-AS1 gene

Symptoms // Phenotype % Cases
Nystagmus Very Common - Between 80% and 100% cases
Strabismus Very Common - Between 80% and 100% cases
Hypopigmentation of the skin Very Common - Between 80% and 100% cases
Cutaneous photosensitivity Very Common - Between 80% and 100% cases
Albinism Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LURAP1L-AS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Freckling
  • Iris hypopigmentation
  • Red hair
  • Partial albinism
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to LURAP1L-AS1 gene

Here you will find a list of rare diseases related to the LURAP1L-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3


Alternate names

ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3 Is also known as roca, oculocutaneous albinism, type iii, albinism iii, xanthism, rufous oculocutaneous albinism

Most common symptoms of ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3

  • Nystagmus
  • Strabismus
  • Hypopigmentation of the skin
  • Cutaneous photosensitivity
  • Albinism


More info about ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3

SOURCES: MESH OMIM




If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MBP

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more