About: encephalopathy due to prosaposin deficiency

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About: encephalopathy due to prosaposin deficiency Goto Sponge NotDistinct Permalink

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Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses

Attributes	Values
rdf:type	Item
description	Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses (en)
exact match	wds:Q55783834-41E6C3CB-8B1E-4C94-82F0-C8F4F0CA60AE wds:Q55783834-80759F7E-5536-4BE7-B5FA-247FB8108961 wds:Q55783834-A1CA1D95-CD83-4E4D-852C-A644DD6D88A7
exact match	http://purl.obolibrary.org/obo/DOID_0111330 http://identifiers.org/doid/DOID:0111330 http://www.orpha.net/ORDO/Orphanet_139406
Mondo ID	wds:Q55783834-24FCA661-9A9C-4D96-9E90-A281313239A5
Disease Ontology ID	wds:Q55783834-A7752445-602A-476C-AFEC-EE73C15048D7
symptoms and signs	wds:Q55783834-28B56358-9DE3-425A-936F-1F3A8D07E927
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0012719
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111330
Mondo ID	MONDO_0012719
Disease Ontology ID	DOID:0111330
symptoms and signs	hepatosplenomegaly
rdfs:label	encephalopathy due to prosaposin deficiency (en)
skos:prefLabel	encephalopathy due to prosaposin deficiency (en)
name	encephalopathy due to prosaposin deficiency (en)
instance of	wds:Q55783834-ABA26E4F-6415-4C52-9E87-99CBC91850B5 wds:Q55783834-CD823EF6-E224-4755-8FE8-AEC805C31B18
instance of	class of disease rare disease
subclass of	wds:Q55783834-042DD7AC-B744-45CE-ADEB-A4BB7C0871C1 wds:Q55783834-130BB154-793E-4285-BF2D-A439A8E689A6 wds:Q55783834-856ED00F-E334-4173-8A63-E760D580CA42 wds:Q55783834-950EAEEF-3807-47F0-A295-5EC8CAB5F852 wds:Q55783834-D94C26FD-47E1-4DF5-9706-CFB1C1DB9964
subclass of	rare dyslipidemia sphingolipidosis rare genetic epilepsy neurometabolic disease sphingolipidosis with epilepsy
KEGG ID	wds:Q55783834-74CCEDA4-0F93-4E8E-A248-3A261DF8E991
KEGG ID	http://www.kegg.jp/entry/H01239
KEGG ID	H01239
Orphanet ID	wds:Q55783834-27DA72C4-93A3-4CCD-B113-D79387072D61
genetic association	wds:Q55783834-FE143526-4CC3-4112-B3AB-AD34FAB49A11
ICD-10-CM	wds:Q55783834-11FD618D-520D-48FD-8389-A7312B38931F
GARD rare disease ID	wds:Q55783834-3EEDA39F-3F8A-409F-B485-36599168817B
OMIM ID	wds:Q55783834-BDBE768A-FD83-44BD-8F60-BCF0B369DF6E
Orphanet ID	139406
genetic association	PSAP
ICD-10-CM	E75.2
GARD rare disease ID	12505
OMIM ID	611721
skos:altLabel	PSAPD (en) COMBINED SAPOSIN DEFICIENCY (en) Combined SAP deficiency (en) Combined prosaposin deficiency (en) Prosaposin Deficiency (en) combined saposin deficiency (en)
UMLS CUI	wds:Q55783834-65DCAD7F-DFA2-490A-8C30-87E2278138AD
MeSH descriptor ID	wds:Q55783834-113205FB-8461-4370-8923-755C847D7EDC
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C567125
UMLS CUI	C2673635
MeSH descriptor ID	C567125
is owl:sameAs of	encephalopathy due to prosaposin deficiency
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55783834
is main subject of	Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphi Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. Quantification of mRNAs encoding proteins of the glycosphingolipid catabolism in mouse models of GM2 gangliosidoses and sphingolipid activator protein precursor (prosaposin) deficiency
is main subject of	wds:Q48862963-ABB61821-1B69-407D-B575-42180DFC749A wds:Q73163848-B21DD855-3815-4448-BA02-4761CDB889FB wds:Q72921443-38B5D768-A9AB-483B-B4B9-16B632D21816 wds:Q55417076-B9ECA38D-E5C4-4977-9950-09F93FC71943 wds:Q42003817-1E920B07-3AC2-4A04-9710-88968CDB6103
is genetic association of	PSAP
is genetic association of	wds:Q14914243-C5024657-2AC7-49E1-A727-009A9C1DD2DB

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