Difference between revisions of "Fabry Disease 2012"
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[[File:heart_attack_stroke.jpg|200px|thumb|right|Built up Gb3 and glycosphingolipids may lead to heart attack and stroke]] |
[[File:heart_attack_stroke.jpg|200px|thumb|right|Built up Gb3 and glycosphingolipids may lead to heart attack and stroke]] |
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As almost each family has its own [http://www.medterms.com/script/main/art.asp?articlekey=5048 private mutation], phenotypes of affected persons can be very variable. In general, with increasing age symptoms become more severe. This effect is due to more and more accumulated glycosphingolipids that cannot be converted by the dysfunctional enzyme. The built up globotriaoslyceramide (Gb3) and related glycosphingolipids in the lysosomes, tissues, blood vessels and organs lead to a malfunction of major organs in the body starting at an age of 30 - 35 (see picture on the right). Thus untreated patients die approximately 10 - 20 years early (females and males, respectively). |
As almost each family has its own [http://www.medterms.com/script/main/art.asp?articlekey=5048 private mutation], phenotypes of affected persons can be very variable. In general, with increasing age symptoms become more severe. This effect is due to more and more accumulated glycosphingolipids that cannot be converted by the dysfunctional enzyme. The built up globotriaoslyceramide (Gb3) and related glycosphingolipids in the lysosomes, tissues, blood vessels and organs lead to a malfunction of major organs in the body starting at an age of 30 - 35 (see picture on the right). Thus untreated patients die approximately 10 - 20 years early (females and males, respectively). |
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| + | |||
| + | === Symptoms (onset) === |
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| + | ==== Childhood ==== |
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| + | * Acroparesthesia (Numbness in extremities) |
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| + | * Hypohidrosis (decreased sweating) |
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| + | * Cornea opacity |
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| + | |||
| + | |||
| + | |||
| + | ==== Adolesence ==== |
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| + | * Gastro Intestinal Manifestation (nausea, vomitting) |
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| + | * Angiokeratoma |
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| + | * Depression |
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| + | * Heat/cold intolerance |
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| + | * Fatigue |
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| + | |||
| + | ==== Adulthood ==== |
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| + | * Renal Disease |
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| + | ** Progressive renal insufficiency |
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| + | ** End-stage renal disease |
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| + | * Cardiac Disease |
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| + | ** Hypertension (high blood pressure) |
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| + | ** Cardiomyopathy |
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| + | * Central Nervous System Disease |
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| + | ** Headache |
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| + | ** Stroke |
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| + | ** Ischaemic cerebrovascular events |
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| + | ** Binswanger’s Disease (Vascular dementia) |
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* [http://omim.org/entry/301500 OMIM] |
* [http://omim.org/entry/301500 OMIM] |
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* [https://en.wikipedia.org/wiki/Fabry_disease Wikipedia] |
* [https://en.wikipedia.org/wiki/Fabry_disease Wikipedia] |
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| + | * [https://www.lsdregistry.net/fabryregistry/ Fabry Registry] |
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| + | * [http://www.ncbi.nlm.nih.gov/books/NBK1292/ NCBI Bookshelf, Fabry Disease, A. Mehta and D. Hughes] |
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== Biochemical disease mechanism == |
== Biochemical disease mechanism == |
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Revision as of 13:41, 20 April 2012
Contents
Summary
Intelligenter Inhalt hier
Phenotype
As almost each family has its own private mutation, phenotypes of affected persons can be very variable. In general, with increasing age symptoms become more severe. This effect is due to more and more accumulated glycosphingolipids that cannot be converted by the dysfunctional enzyme. The built up globotriaoslyceramide (Gb3) and related glycosphingolipids in the lysosomes, tissues, blood vessels and organs lead to a malfunction of major organs in the body starting at an age of 30 - 35 (see picture on the right). Thus untreated patients die approximately 10 - 20 years early (females and males, respectively).
Symptoms (onset)
Childhood
- Acroparesthesia (Numbness in extremities)
- Hypohidrosis (decreased sweating)
- Cornea opacity
Adolesence
- Gastro Intestinal Manifestation (nausea, vomitting)
- Angiokeratoma
- Depression
- Heat/cold intolerance
- Fatigue
Adulthood
- Renal Disease
- Progressive renal insufficiency
- End-stage renal disease
- Cardiac Disease
- Hypertension (high blood pressure)
- Cardiomyopathy
- Central Nervous System Disease
- Headache
- Stroke
- Ischaemic cerebrovascular events
- Binswanger’s Disease (Vascular dementia)
Cross-references
- HGMD
- KEGG Disease
- OMIM
- Wikipedia
- Fabry Registry
- NCBI Bookshelf, Fabry Disease, A. Mehta and D. Hughes
Biochemical disease mechanism
Cross-references
Mutations
Reference sequence
Reference Sequence of α-galactosidase A from Uniprot entry P06280
>gi|4504009|ref|NP_000160.1| alpha-galactosidase A precursor [Homo sapiens] MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFM EMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNK TCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWP FQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQ VTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWA VAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENT MQMSLKDLL
