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__NOTOC__
__NOTOC__
{{Glycogen storage disease}}


{{CMG}}; {{AE}} {{Anmol}}
{{CMG}}; {{AE}} {{Anmol}}


 
==Tables==
==Glycogen storage disease==
 
{| class="wikitable"
{| class="wikitable"
! colspan="2" |Glycogen storage disease
|+
!Diagnosis
!Lab findings
!
!
!
!Enzyme deficiency
! colspan="3" |Genetics
! colspan="2" |History and symptoms
!Physical examination
!Laboratory findings
!Imaging
!Other features
|-
|-
!
!
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!
!
!
!
!Gene mutation
!Inheritance
!Chromosome
!Hypoglycemia
!Muscle weakness
!Hepatomegaly
!Elevated CK
!Cardiomegaly
!
|-
| rowspan="2" |Glycogen storage disease type I
| rowspan="2" |Von Gierke's disease
|GSD type Ia
|Glucose-6-phosphatase
|[[G6PC]] [[gene mutation]] 
|Autosomal recessive
|17q21
| +
|
|
|
|
|
|-
|GSD type Ib
| [[Microsomal]] [[glucose-6-phosphate]] [[Membrane transport protein|transporter]]
| [[SLC37A4]] [[gene mutation]]
|Autosomal recessive
|11q23
| +
|
|
|
|
|
|-
| rowspan="2" |Glycogen storage disease type II
| rowspan="2" |Pompe disease
|Infantile onset
| rowspan="2" |Alpha acid-glucosidase
| rowspan="2" |GAA gene
|Autosomal recessive
| rowspan="2" |17q25
|
|
|
|
|
|
|-
|-
|Late onset
|Autosomal recessive
|
|
|
|
|
|
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|
|
|-
|-
| rowspan="2" |Glycogen storage disease type III
| rowspan="2" |Cori disease
|GSD type IIIa
|Debranching enzyme (deficiency in muscle and liver)
| rowspan="2" |AGL [[gene mutation]] 
|Autosomal recessive
| rowspan="2" |1p21
|
|
|
|
|
|
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|
|
|-
|-
|GSD type IIIb
|Debranching enzyme (deficiency in liver only)
|Autosomal recessive
|
|
|
|
|
|
|-
|Glycogen storage disease type IV
|Andersen's disease
|
|Branching enzyme
| GBE1 gene mutation
|Autosomal recessive
|3p12
|
|
|
|
|
|
|-
|Glycogen storage disease type V
| colspan="2" |McArdle disease
|Muscle glycogen phosphorylase
|PYGM gene mutation
|Autosomal recessive
|11q13
|
|
|
|
|
|
|-
| rowspan="2" |Glycogen storage disease type VI
| rowspan="2" |Hers' disease
|Autosomal
| rowspan="2" |Liver glycogen phosphorylase
| PYGL gene mutation
|Autosomal recessive
|14q22
|
|
|
|
|
|
|-
|X-linked
|
|X-linked recessive
|
|
|
|
|
|
|
|-
|Glycogen storage disease type VII
| colspan="2" |Tauri's disease
|Muscle phosphofruktokinase
|PFKM gene mutation
|Autosomal recessive
|12q13
|
|
|
|
|
|
|-
| colspan="2" rowspan="2" |Glycogen storage disease type IX
|GSD type IXa
|Phosphorylase b kinase (deficiency in liver only)
|PHKA2 gene mutation
|X-linked recessive
|Xp22
|
|
|
|
|
|
|-
|GSD type IXb
|Phosphorylase b kinase (deficiency in liver and muscle)
|PHKB gene mutation
|Autosomal recessive
|16q12
|
|
|
|
|
|
|-
| colspan="3" |Glycogen storage disease type X
|Phosphoglycerate mutase
|PGAM2 gene mutation
|Autosomal recessive
|7p13
|
|
|
|
|
|
|-
|Glycogen storage disease type XI
| colspan="2" |Lactate dehydrogenase A deficiency
|Glucose transporter 2
|LDHA gene mutation
|Autosomal recessive
|11p15
|
|
|
|
|
|
|-
|Glycogen storage disease type XII
| colspan="2" |Aldolase A deficiency
|Aldolase A
|ALDOA gene mutation
|Autosomal recessive
|16p11
|
|
|
|
|
|
|-
| colspan="3" |Glycogen storage disease type XIII
|Beta-enolase
| ENO3 gene mutation
|Autosomal recessive
|17p13
|
|
|
|
|
|
|-
| colspan="3" |Glycogen storage disease type XIV
|Phosphoglucomutase type 2
|PGM1 gene mutation
|Autosomal recessive
|1p31
|
|
|
|
|
|
|-
|Glycogen storage disease type 0
| colspan="2" |Lewis' disease
|Hepatic glycogen synthase
| GYS2 gene mutation
|Autosomal recessive
|12p12
|
|
|
|
|
|
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|
|
|}
|}
==References==
==References==
{{reflist|2}}
{{reflist|2}}

Latest revision as of 17:32, 14 January 2019


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

Tables

Diagnosis Lab findings

References

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