Albinism classification: Difference between revisions

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Revision as of 18:18, 17 August 2021

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); 1 type
- Ocular albinism (OA); 2 types

Albinism Types
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
CHS	1q42.1-q42.2	Lysosomal trafficking regulator
OA (X-linked recessive)	Xp22.3	GPR143
AROA( autosomal recessive)	Not a distinct position	Tyrosinase in some cases;P protein in some cases

References

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@@ Line 10: / Line 10: @@
 ** [[Oculocutaneous albinism]]([[OCA]]); 4 subtypes
 ** [[Hermansky-Pudlak syndrome]] ([[HPS]]); 8 subtypes
-** [[Chediak-Higashi syndrome]] ([[CHS]])
+** [[Chediak-Higashi syndrome]] ([[CHS]]); 1 type
-** [[Ocular albinism]] ([[OA]])
+** [[Ocular albinism]] ([[OA]]); 2 types
 {| class="wikitable"
 |+
@@ Line 23: / Line 21: @@
 | style="background:#DCDCDC;" align="center" + | OCA1
 | style="background:#F5F5F5;" +|11q14-21
-| style="background:#F5F5F5;" +| Tyrosinase
+| style="background:#F5F5F5;" +| [[Tyrosinase]]
 |-
 | style="background:#DCDCDC;" align="center" + |OCA2
 | style="background:#F5F5F5;" +|15q11-13
-| style="background:#F5F5F5;" +|P protein
+| style="background:#F5F5F5;" +|[[P-protein]]
 |-
 | style="background:#DCDCDC;" align="center" + |OCA3
 | style="background:#F5F5F5;" + |9p23
-| style="background:#F5F5F5;" + |Tyrosinase-related protein
+| style="background:#F5F5F5;" + |[[Tyrosinase-related protein]]
 |-
 | style="background:#DCDCDC;" align="center" + |OCA4
 | 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:#F5F5F5;" + |[[HPS1]]
 |-
 | style="background:#DCDCDC;" align="center" + |HPS2
 | style="background:#F5F5F5;" + |5q14.1
-| style="background:#F5F5F5;" + | AP3B1
+| style="background:#F5F5F5;" + |[[AP3B1]]
 |-
 | style="background:#DCDCDC;" align="center" + |HPS3
 | style="background:#F5F5F5;" + |3q24
-| style="background:#F5F5F5;" + |HPS3
+| style="background:#F5F5F5;" + |[[HPS3]]
 |-
 | style="background:#DCDCDC;" align="center" + |HPS4
 | style="background:#F5F5F5;" + |22q11.2-q12.2
-| style="background:#F5F5F5;" + |HPS4
+| style="background:#F5F5F5;" + |[[HPS4]]
 |-
 | style="background:#DCDCDC;" align="center" + |HPS5
 | style="background:#F5F5F5;" + |11p15-p13
-| style="background:#F5F5F5;" + |HPS5
+| style="background:#F5F5F5;" + |[[HPS5]]
 |-
 | style="background:#DCDCDC;" align="center" + |HPS6
 | style="background:#F5F5F5;" + |10q24.3
-| style="background:#F5F5F5;" + |HPS6
+| style="background:#F5F5F5;" + |[[HPS6]]
 |-
 | style="background:#DCDCDC;" align="center" + |HPS7
 | style="background:#F5F5F5;" + |6p22.3
-| style="background:#F5F5F5;" + |Dysbindin protein
+| style="background:#F5F5F5;" + |[[Dysbindin]] protein
 |-
 | style="background:#DCDCDC;" align="center" + |HPS8
 | style="background:#F5F5F5;" + |19q13
-| style="background:#F5F5F5;" + |BLOC1S3
+| style="background:#F5F5F5;" + |[[BLOC1S3]]
+|-
+| style="background:#DCDCDC;" align="center" + |CHS
+| style="background:#F5F5F5;" + |1q42.1-q42.2
+| style="background:#F5F5F5;" + |[[Lysosomal trafficking regulator]]
+|-
+| style="background:#DCDCDC;" align="center" + |OA ([[X-linked recessive]])
+| style="background:#F5F5F5;" + |Xp22.3
+| style="background:#F5F5F5;" + |[[GPR143]]
+|-
+| style="background:#DCDCDC;" align="center" + |AROA( [[autosomal recessive]])
+| style="background:#F5F5F5;" + |Not a distinct position
+| style="background:#F5F5F5;" + |[[Tyrosinase]] in some cases;[[P protein]] in some cases
 |}

Albinism classification: Difference between revisions

Revision as of 18:18, 17 August 2021

Overview

Classification

References

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