About: GM1 gangliosidoses

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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.

Attributes	Values
rdf:type	Thing Fuchs' dystrophy yago:WikicatAutosomalRecessiveDisorders yago:WikicatLipidStorageDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 disease yago:State100024720 umbel-rc:AilmentCondition
rdfs:label	GM1 gangliosidoses (en) GM1-ганглиозидоз (ru)
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)
dcterms:subject	Autosomal recessive disorders Rare diseases Lipid storage disorders
Wikipage page ID	5788190 (xsd:integer)
Wikipage revision ID	1124279023 (xsd:integer)
Link from a Wikipage to another Wikipage	Cardiac Nervous system Angiokeratomas Morquio disease Blindness Deaf Dementia Beta-galactosidase GLB1 Sphingolipidoses Neurodegeneration dbr:Galactose Autosomal recessive disorders Cellular organization Gait Lipid Dystonia Rare diseases Ataxia Hypotonia Lipid storage disorders Hepatomegaly Pneumonia Splenomegaly Seizures Neurodegenerative disease Lipid storage disorders Teratology Gangliosidoses GM1 ganglioside Lysosomal storage disorder
Link from a Wikipage to an external page	https://curegm1.org/the-foundation-and-its-members/ https://ntsad.org/index.php https://www.mpssociety.org.uk/ https://clinicaltrials.gov/
sameAs	GM1 gangliosidoses GM1 gangliosidoses GM1 gangliosidoses GM1 gangliosidoses GM1 gangliosidoses GM1 gangliosidoses GM1 gangliosidoses GM1 gangliosidoses GM1 gangliosidoses
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:OMIM dbt:Lipid_storage_disorders
Link from a Wikipa... related subject.	dbpedia-de:GM1-Gangliosidose
DiseasesDB	32008 (xsd:integer)
ICD	330.100000 (xsd:double) (en) E75.1 (en)
MeshID	D016537 (en)
OMIM	230600 (xsd:integer)
synonyms	GM1 gangliosidosis (en)
has 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)
eMedicineSubj	ped (en)
eMedicineTopic	2891 (xsd:integer)
oMIM mult	, (en)
dbp:wordnet_type	http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1
ICD9	330.1
eMedicine subject	ped (en)
eMedicine topic	2891 (en)
MeSH ID	D016537
prov:wasDerivedFrom	wikipedia-en:GM1_gangliosidoses?oldid=1124279023&ns=0
page length (characters) of wiki page	10212 (xsd:nonNegativeInteger)
DiseasesDB	32008
ICD10	E75.1
OMIM id	230600 (xsd:integer)
foaf:isPrimaryTopicOf	wikipedia-en:GM1_gangliosidoses

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