Albinism classification: Difference between revisions

	Albinism Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Albinism from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X Ray
CT
MRI
Echocardiography or Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Albinism classification On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Albinism classification All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Albinism classification
CDC on Albinism classification
Albinism classification in the news
Blogs on Albinism classification
Directions to Hospitals Treating Albinism
Risk calculators and risk factors for Albinism classification

← Older edit

VisualWikitext

Latest revision as of 16:23, 21 August 2021

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]

Overview

Albinism is classified based on genetic mutation. The different types of albinism include, Oculocutaneous albinism(OCA), Hermansky-Pudlak syndrome (HPS),Chediak-Higashi syndrome (CHS), and Ocular albinism (OA).

Classification

Albinism is classified based on genetic mutation^[1]^[2]
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

↑ Summers CG (2009). "Albinism: classification, clinical characteristics, and recent findings". Optom Vis Sci. 86 (6): 659–62. doi:10.1097/OPX.0b013e3181a5254c. PMID 19390472.
↑ "Albinism - StatPearls - NCBI Bookshelf".

Template:WS

Template:WS Template:WH

[pmid19390472-1] Summers CG (2009). "Albinism: classification, clinical characteristics, and recent findings". Optom Vis Sci. 86 (6): 659–62. doi:10.1097/OPX.0b013e3181a5254c. PMID 19390472.

[2] "Albinism - StatPearls - NCBI Bookshelf".

[1]

[2]

@@ Line 4: / Line 4: @@
 ==Overview==
+[[Albinism]] is classified based on genetic [[mutation]]. The different types of [[albinism]] include, [[Oculocutaneous albinism]]([[OCA]]), [[Hermansky-Pudlak syndrome]] ([[HPS]]),[[Chediak-Higashi syndrome]] ([[CHS]]), and [[Ocular albinism]] ([[OA]]).
 ==Classification==
-* [[Albinism]] is classified based on genetic [[mutation]]
+* [[Albinism]] is classified based on genetic [[mutation]]<ref name="pmid19390472">{{cite journal| author=Summers CG| title=Albinism: classification, clinical characteristics, and recent findings. | journal=Optom Vis Sci | year= 2009 | volume= 86 | issue= 6 | pages= 659-62 | pmid=19390472 | doi=10.1097/OPX.0b013e3181a5254c | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19390472  }} </ref><ref>{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK519018/ |title=Albinism - StatPearls - NCBI Bookshelf |format= |work= |accessdate=}}</ref>
-* 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]]); 1 type
-** [[Ocular albinism]] ([[OA]])
+** [[Ocular albinism]] ([[OA]]); 2 types
 {| class="wikitable"
 |+
-Diagnostic Subtypes
+Albinism Types
 ! style="background:#4479BA; color: #FFFFFF;" align="center" + | Type
 ! style="background:#4479BA; color: #FFFFFF;" align="center" + | Gene Position
@@ Line 23: / Line 22: @@
 | 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:#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]]
+|-
+| 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

Latest revision as of 16:23, 21 August 2021

Overview

Classification

References

Navigation menu

Search