| dbo:abstract |
The GM1 gangliosidoses, usually shortened to GM1, are gangliosidoses caused by mutation in the GLB1 gene resulting in a deficiency of beta-galactosidase. The deficiency causes abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells, resulting in progressive neurodegeneration. GM1 is a rare lysosomal storage disorder with a prevalence of 1 to every 100,000 to 200,000 live births worldwide, although rates are higher in some regions. (en) GM1-ганглиозидо́зы — редкие наследственные заболевания из группы лизосомных болезней накопления. Развитие клинической картины обусловлено дефектом или недостатком β-галактозидазы, который ведёт к нарушению метаболизма и накоплению субстратов (ганглиозида GM1, гликопротеинов и кератансульфата) главным образом в нервных клетках центральной и периферической нервной системы. (ru) |
| dbo:diseasesDB |
32008 |
| dbo:eMedicineSubject |
ped (en) |
| dbo:eMedicineTopic |
2891 (en) |
| dbo:icd10 |
E75.1 |
| dbo:icd9 |
330.1 |
| dbo:meshId |
D016537 |
| dbo:omim |
230600 (xsd:integer) |
| dbo:wikiPageExternalLink |
https://curegm1.org/the-foundation-and-its-members/ https://ntsad.org/index.php https://www.mpssociety.org.uk/ https://clinicaltrials.gov/ |
| dbo:wikiPageID |
5788190 (xsd:integer) |
| dbo:wikiPageInterLanguageLink |
dbpedia-de:GM1-Gangliosidose |
| dbo:wikiPageLength |
10212 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID |
1124279023 (xsd:integer) |
| dbo:wikiPageWikiLink |
dbr:Cardiac dbr:Nervous_system dbr:Angiokeratomas dbr:Morquio_disease dbr:Blindness dbr:Deaf dbr:Dementia dbr:Beta-galactosidase dbr:GLB1 dbr:Sphingolipidoses dbr:Neurodegeneration dbr:Galactose dbc:Autosomal_recessive_disorders dbr:Cell_(biology) dbr:Gait dbr:Lipid dbr:Dystonia dbc:Rare_diseases dbr:Ataxia dbr:Hypotonia dbc:Lipid_storage_disorders dbr:Hepatomegaly dbr:Pneumonia dbr:Splenomegaly dbr:Seizures dbr:Neurodegenerative_disease dbr:Lipid_storage_disorders dbr:Teratology dbr:Gangliosidoses dbr:GM1_ganglioside dbr:Lysosomal_storage_disorder |
| dbp:diseasesdb |
32008 (xsd:integer) |
| dbp:emedicinesubj |
ped (en) |
| dbp:emedicinetopic |
2891 (xsd:integer) |
| dbp:icd |
330.100000 (xsd:double) (en) E75.1 (en) |
| dbp:meshid |
D016537 (en) |
| dbp:omim |
230600 (xsd:integer) |
| dbp:omimMult |
, (en) |
| dbp:synonyms |
GM1 gangliosidosis (en) |
| dbp:wikiPageUsesTemplate |
dbt:Citation_needed dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:OMIM dbt:Lipid_storage_disorders |
| dbp:wordnet_type |
http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1 |
| dct:subject |
dbc:Autosomal_recessive_disorders dbc:Rare_diseases dbc:Lipid_storage_disorders |
| rdf:type |
owl:Thing wikidata:Q12136 yago:WikicatAutosomalRecessiveDisorders yago:WikicatLipidStorageDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 dbo:Disease yago:State100024720 umbel-rc:AilmentCondition |
| rdfs:comment |
The GM1 gangliosidoses, usually shortened to GM1, are gangliosidoses caused by mutation in the GLB1 gene resulting in a deficiency of beta-galactosidase. The deficiency causes abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells, resulting in progressive neurodegeneration. GM1 is a rare lysosomal storage disorder with a prevalence of 1 to every 100,000 to 200,000 live births worldwide, although rates are higher in some regions. (en) GM1-ганглиозидо́зы — редкие наследственные заболевания из группы лизосомных болезней накопления. Развитие клинической картины обусловлено дефектом или недостатком β-галактозидазы, который ведёт к нарушению метаболизма и накоплению субстратов (ганглиозида GM1, гликопротеинов и кератансульфата) главным образом в нервных клетках центральной и периферической нервной системы. (ru) |
| rdfs:label |
GM1 gangliosidoses (en) GM1-ганглиозидоз (ru) |
| owl:sameAs |
freebase:GM1 gangliosidoses yago-res:GM1 gangliosidoses http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/2508 wikidata:GM1 gangliosidoses dbpedia-fa:GM1 gangliosidoses dbpedia-ru:GM1 gangliosidoses dbpedia-sr:GM1 gangliosidoses http://tt.dbpedia.org/resource/Таралган_ганглиозидоз https://global.dbpedia.org/id/4k1cM |
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wikipedia-en:GM1_gangliosidoses?oldid=1124279023&ns=0 |
| foaf:isPrimaryTopicOf |
wikipedia-en:GM1_gangliosidoses |
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dbr:Dysostosis_multiplex dbr:Gangliosidosis_GM1_type_3 dbr:Gangliosidosis_type1 dbr:GM1_Storage_Disease dbr:GM1_gangliosidosis dbr:Gm1_gangliosidosis |
| is dbo:wikiPageWikiLink of |
dbr:Roivant_Sciences dbr:GLB1 dbr:Sphingolipidoses dbr:Macrocephaly dbr:Gangliosidosis dbr:Lipid_storage_disorder dbr:Sweat_gland dbr:Portuguese_Water_Dog dbr:Dysostosis_multiplex dbr:Gangliosidosis_GM1_type_3 dbr:Gangliosidosis_type1 dbr:GM1_Storage_Disease dbr:GM1_gangliosidosis dbr:Gm1_gangliosidosis |
| is foaf:primaryTopic of |
wikipedia-en:GM1_gangliosidoses |
