Differentiating Albinism from other diseases: Difference between revisions

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| style="background:#DCDCDC;" align="center" + | [[Hermansky-Pudlak syndrome]]
| style="background:#DCDCDC;" align="center" + | [[Hermansky-Pudlak syndrome]]
| style="background:#F5F5F5;" +| [[Autosomal recessive]]
| style="background:#F5F5F5;" +| [[Autosomal recessive]]
| style="background:#F5F5F5;" +|
| style="background:#F5F5F5;" +|Affected genes of lysosome-related [[organelles]]
* Affected genes of lysosome-related [[organelles]]
| style="background:#F5F5F5;" +|  
| style="background:#F5F5F5;" +|  
*  [[Oculocutaneous albinism]]
*  [[Oculocutaneous albinism]]
Line 30: Line 29:
| style="background:#DCDCDC;" align="center" + | [[Chediak-Higashi syndrome]]
| style="background:#DCDCDC;" align="center" + | [[Chediak-Higashi syndrome]]
| style="background:#F5F5F5;" +|[[Autosomal recessive]]
| style="background:#F5F5F5;" +|[[Autosomal recessive]]
| style="background:#F5F5F5;" +|  
| style="background:#F5F5F5;" +| Lysosomal trafficking regulator gene
* Lysosomal trafficking regulator gene
| style="background:#F5F5F5;" +|
| style="background:#F5F5F5;" +|
* [[ Oculocutaneous albinism]]
* [[ Oculocutaneous albinism]]
Line 40: Line 38:
| style="background:#DCDCDC;" align="center" + | [[Griscelli syndrome]]
| style="background:#DCDCDC;" align="center" + | [[Griscelli syndrome]]
| style="background:#F5F5F5;" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" + |  
| style="background:#F5F5F5;" + | Defects in [[myosin]], [[myosin]] [[receptors]], and binding
* Defects in [[myosin]], [[myosin]] [[receptors]], and binding
| style="background:#F5F5F5;" + |
| style="background:#F5F5F5;" + |
* [[Albinism]]
* [[Albinism]]
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| style="background:#DCDCDC;" align="center" + | [[Waardenburg syndrome]] type II
| style="background:#DCDCDC;" align="center" + | [[Waardenburg syndrome]] type II
| style="background:#F5F5F5;" + | [[Autosomal dominant]]
| style="background:#F5F5F5;" + | [[Autosomal dominant]]
| style="background:#F5F5F5;" + |  
| style="background:#F5F5F5;" + | [[MITF]] [[gene mutation]]
* [[MITF]] [[gene mutation]]
| style="background:#F5F5F5;" + |
| style="background:#F5F5F5;" + |
* Patchy skin [[hypopigmentation]]
* Patchy skin [[hypopigmentation]]
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| style="background:#DCDCDC;" align="center" + | [[Vici syndrome]]
| style="background:#DCDCDC;" align="center" + | [[Vici syndrome]]
| style="background:#F5F5F5;" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" + |Mutation in ectopic P granules protein 5
| style="background:#F5F5F5;" + |
| style="background:#F5F5F5;" + |
* Mutation in ectopic P granules protein 5
* Absent of [[corpus callosum]]
* Absent of [[corpus callosum]]
| style="background:#F5F5F5;" + |
* [[Skin]] and [[hair]] [[hypopigmentation]]
* [[Skin]] and [[hair]] [[hypopigmentation]]
* [[Microcephaly]]
* [[Microcephaly]]
Line 73: Line 68:
| style="background:#DCDCDC;" align="center" + | Tietz albinism-deafness syndrome
| style="background:#DCDCDC;" align="center" + | Tietz albinism-deafness syndrome
| style="background:#F5F5F5;" + |[[Autosomal dominant]]
| style="background:#F5F5F5;" + |[[Autosomal dominant]]
| style="background:#F5F5F5;" + |
| style="background:#F5F5F5;" + | [[MITF]] [[gene mutation]]
* [[MITF]] [[gene mutation]]
| style="background:#F5F5F5;" + |
| style="background:#F5F5F5;" + |
* White [[eyebrows]] and [[eyelashes]]
* White [[eyebrows]] and [[eyelashes]]
Line 93: Line 87:
|-
|-
| style="background:#DCDCDC;" align="center" + | [[Prader-Willi syndrome]]
| style="background:#DCDCDC;" align="center" + | [[Prader-Willi syndrome]]
| style="background:#F5F5F5;" + |Loss of the paternal copy of [[chromosome]] 15q11.2-13
| style="background:#F5F5F5;" + | Loss of the paternal copy of [[chromosome]] 15q11.2-13
| style="background:#F5F5F5;" + |-
| style="background:#F5F5F5;" + |-
| style="background:#F5F5F5;" + |
| style="background:#F5F5F5;" + |

Revision as of 22:18, 23 August 2021

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

Overview

Differential Diagnosis

Differential diagnosis of Albinism
Disease Inheritance Gene mutation Diagnostic criteria
Hermansky-Pudlak syndrome Autosomal recessive Affected genes of lysosome-related organelles
Chediak-Higashi syndrome Autosomal recessive Lysosomal trafficking regulator gene
Griscelli syndrome Autosomal recessive Defects in myosin, myosin receptors, and binding
Waardenburg syndrome type II Autosomal dominant MITF gene mutation
Vici syndrome Autosomal recessive Mutation in ectopic P granules protein 5
Tietz albinism-deafness syndrome Autosomal dominant MITF gene mutation
Angelman syndrome Loss of the maternal copy of chromosome 15q11.2-13 -
Prader-Willi syndrome Loss of the paternal copy of chromosome 15q11.2-13 -

References

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