Oculocutaneous Albinism Type 4
Description
Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.
Clinical Features
Top most frequent phenotypes and symptoms related to Oculocutaneous Albinism Type 4
- Nystagmus
- Strabismus
- Visual impairment
- Reduced visual acuity
- Photophobia
- Hypopigmentation of the skin
- Thickened skin
- Melanoma
- Albinism
- Basal cell carcinoma
And another 10 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available OCULOCUTANEOUS ALBINISM TYPE 4 have a estimated prevalence of 1 per 100k in Europe.— No data available about the known clinical features onset.
Alternative names
Oculocutaneous Albinism Type 4 Is also known as oca4, oculocutaneous albinism, type iv.
Researches and researchers
Doctors, researchs, and experts related to Oculocutaneous Albinism Type 4 extracted from public data.
Oculocutaneous Albinism Type 4 Experts map
Current Researchs and researchers
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Investigator of research projectMADRID — Dr Matías MORÍN RODRÍGUEZ
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Institution/s:
— Hospital Universitario Ramón y Cajal -
Research area/topic::
Analysis of genetic mosaicism by NGS. Application in rare pathologies and in cellular and animal models by genetic edition
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Institution/s:
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Investigator of research projectSEVILLA — Dr María del Carmen PEÑA CHILET
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Institution/s:
— Fundación Progreso y Salud -
Research area/topic::
Mathematical models of disease mechanisms to reformulate drugs for rare diseases
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Institution/s:
Oculocutaneous Albinism Type 4 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
SLC45A2
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
SLC45A2
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
SLC45A2
Specificity
100 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, AP3B1, MC1R, OCA2, BLOC1S6
Specificity
6 %
Genes
100 % |
![]() By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).
SLC45A2
Specificity
100 %
Genes
100 % |
![]() By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).
TYR, TYRP1, SLC45A2, SLC24A5, LRMDA, OCA2
Specificity
17 %
Genes
100 % |
![]() By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).
SLC45A2
Specificity
100 %
Genes
100 % |
You can get up to 37 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM MESH Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION JOUBERT SYNDROME 23; JBTS23 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4 FACIOSCAPULOHUMERAL DYSTROPHY ACROCALLOSAL SYNDROME; ACLS