Albinism classification: Difference between revisions
Jump to navigation
Jump to search
| Line 7: | Line 7: | ||
==Classification== | ==Classification== | ||
* [[Albinism]] is classified based on genetic [[mutation]] | * [[Albinism]] is classified based on genetic [[mutation]] | ||
* The different types include: | * The different types and subtypes include: | ||
** [[Oculocutaneous albinism]]([[OCA]]) | ** [[Oculocutaneous albinism]]([[OCA]]); 4 subtypes | ||
** [[Hermansky-Pudlak syndrome]] ([[HPS]]) | ** [[Hermansky-Pudlak syndrome]] ([[HPS]]); 8 subtypes | ||
** [[Chediak-Higashi syndrome]] ([[CHS]]) | ** [[Chediak-Higashi syndrome]] ([[CHS]]) | ||
** [[Ocular albinism]] ([[OA]]) | ** [[Ocular albinism]] ([[OA]]) | ||
| Line 16: | Line 16: | ||
{| class="wikitable" | {| class="wikitable" | ||
|+ | |+ | ||
Albinism Types | |||
! style="background:#4479BA; color: #FFFFFF;" align="center" + | Type | ! style="background:#4479BA; color: #FFFFFF;" align="center" + | Type | ||
! style="background:#4479BA; color: #FFFFFF;" align="center" + | Gene Position | ! style="background:#4479BA; color: #FFFFFF;" align="center" + | Gene Position | ||
| Line 37: | Line 37: | ||
| style="background:#F5F5F5;" + |5p | | style="background:#F5F5F5;" + |5p | ||
| style="background:#F5F5F5;" + | SLC45A2 | | style="background:#F5F5F5;" + | SLC45A2 | ||
|- | |||
| style="background:#DCDCDC;" align="center" + | HPS1 | |||
| style="background:#F5F5F5;" + |10q23.1-q23.3 | |||
| style="background:#F5F5F5;" + | HPS1 | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |HPS2 | |||
| style="background:#F5F5F5;" + |5q14.1 | |||
| style="background:#F5F5F5;" + | AP3B1 | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |HPS3 | |||
| style="background:#F5F5F5;" + |3q24 | |||
| style="background:#F5F5F5;" + |HPS3 | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |HPS4 | |||
| style="background:#F5F5F5;" + |22q11.2-q12.2 | |||
| style="background:#F5F5F5;" + |HPS4 | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |HPS5 | |||
| style="background:#F5F5F5;" + |11p15-p13 | |||
| style="background:#F5F5F5;" + |HPS5 | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |HPS6 | |||
| style="background:#F5F5F5;" + |10q24.3 | |||
| style="background:#F5F5F5;" + |HPS6 | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |HPS7 | |||
| style="background:#F5F5F5;" + |6p22.3 | |||
| style="background:#F5F5F5;" + |Dysbindin protein | |||
|- | |||
| style="background:#DCDCDC;" align="center" + |HPS8 | |||
| style="background:#F5F5F5;" + |19q13 | |||
| style="background:#F5F5F5;" + |BLOC1S3 | |||
|} | |} | ||
Revision as of 18:05, 17 August 2021
|
Albinism Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Albinism classification On the Web |
|
American Roentgen Ray Society Images of Albinism classification |
|
Risk calculators and risk factors for Albinism classification |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]
Overview
Classification
- Albinism is classified based on genetic mutation
- The different types and subtypes include:
- Oculocutaneous albinism(OCA); 4 subtypes
- Hermansky-Pudlak syndrome (HPS); 8 subtypes
- Chediak-Higashi syndrome (CHS)
- Ocular albinism (OA)
| Type | Gene Position | Affected Protein |
|---|---|---|
| OCA1 | 11q14-21 | Tyrosinase |
| OCA2 | 15q11-13 | P protein |
| OCA3 | 9p23 | Tyrosinase-related protein |
| OCA4 | 5p | SLC45A2 |
| HPS1 | 10q23.1-q23.3 | HPS1 |
| HPS2 | 5q14.1 | AP3B1 |
| HPS3 | 3q24 | HPS3 |
| HPS4 | 22q11.2-q12.2 | HPS4 |
| HPS5 | 11p15-p13 | HPS5 |
| HPS6 | 10q24.3 | HPS6 |
| HPS7 | 6p22.3 | Dysbindin protein |
| HPS8 | 19q13 | BLOC1S3 |