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.
Table of contents:
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
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
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