Neutral lipid storage disease (original) (raw)
Das Dorfman-Chanarin-Syndrom oder Dorfman-Chanarin-Krankheit ist eine sehr seltene angeborene Stoffwechselstörung mit abnormer Speicherung von Triglyceriden und zählt zu den Speicherkrankheiten. Die Speicherung erfolgt hauptsächlich in den Leukozyten, der Muskulatur, der Leber und in den Fibroblasten und ist mit einer Ichthyose verbunden. Die Erstbeschreibung erfolgte 1974 durch Dorfman. Synonyme sind: Chanarin-Dorfman-Syndrom; Neutralfett-Speicherkrankheit; Lipidose mit Triglyzerid-Speicherkrankheit, Myopathie mit Neutralfett-Speicherung.
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| dbo:abstract | مرض تخزين الدهون المحايد (المعروف أيضًا باسم متلازمة شانارين- دورفمان) هو اضطراب وراثي جسمي متنحي خلقي يتميز بتراكم الدهون الثلاثية في سيتوبلازم الكريات البيض، (شذوذ جوردان في العضلات والكبد والأرومات الليفية والأنسجة الأخرى. يحدث عادةً كواحد من نوعين فرعيين، مرض تخزين الدهون المحايد في عضلة القلب (NLSD-M)، أو مرض تخزين الدهون السماوي المحايد (NLSD-I) والذي يُعرف أيضًا باسم متلازمة شانارين دورفمان)، والتي تتميز بشكل أساسي بالاعتلال العضلي والسماك، على التوالى. عادة ما يكون السماك الموجود عادة احمرار الجلد الخلقي غير الفقاعي والذي يظهر على شكل قشور بيضاء. لقد ارتبط وراثيًا بطفرات في جين CGI58 لـ NLSD-I) أو جين ATGL (لـ NLSD-M. (ar) Das Dorfman-Chanarin-Syndrom oder Dorfman-Chanarin-Krankheit ist eine sehr seltene angeborene Stoffwechselstörung mit abnormer Speicherung von Triglyceriden und zählt zu den Speicherkrankheiten. Die Speicherung erfolgt hauptsächlich in den Leukozyten, der Muskulatur, der Leber und in den Fibroblasten und ist mit einer Ichthyose verbunden. Die Erstbeschreibung erfolgte 1974 durch Dorfman. Synonyme sind: Chanarin-Dorfman-Syndrom; Neutralfett-Speicherkrankheit; Lipidose mit Triglyzerid-Speicherkrankheit, Myopathie mit Neutralfett-Speicherung. (de) Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is a congenital autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes[1], (Jordan’s Anomaly) muscle, liver, fibroblasts, and other tissues. It commonly occurs as one of two subtypes, cardiomyopathic neutral lipid storage disease (NLSD-M), or ichthyotic neutral lipid storage disease (NLSD-I) which is also known as Chanarin–Dorfman syndrome), which are characterized primarily by myopathy and ichthyosis, respectively. Normally, the ichthyosis that is present is typically non-bullous congenital ichthyosiform erythroderma which appears as white scaling. It has been associated genetically with mutations in the CGI58 gene, (for NLSD-I), or the ATGL gene (for NLSD-M.) (en) |
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| dbo:icd10 | E75.5 |
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| dbo:orpha | 98907 |
| dbo:thumbnail | wiki-commons:Special:FilePath/Chanarin-Dorfman_Syndrome_smear_2009-11-13.jpg?width=300 |
| dbo:wikiPageExternalLink | https://rarediseases.info.nih.gov/ http://rarediseases.info.nih.gov/GARD/ |
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| dbo:wikiPageWikiLink | dbr:Hypothyroidism dbr:Creatine_kinase dbr:Erythroderma dbr:Electron_microscopy dbr:Granulocytes dbc:Enzyme_defects dbr:Ichthyosis dbr:Ketone_bodies dbc:Genodermatoses dbr:Jordans'_anomaly dbc:Rare_diseases dbr:Hepatocytes dbr:Adipose_triglyceride_lipase dbr:Fibroblasts dbc:Lipid_storage_disorders dbr:Fibroblast dbr:Chylomicrons dbr:Myopathy dbr:List_of_cutaneous_conditions dbr:Myocytes dbr:Jordans_anomaly dbr:Lymph_system dbr:CGI58 dbr:Histochemical |
| dbp:caption | Presence of lipid vacuoles in granulocytes in Chanarin-Dorfman syndrome (en) |
| dbp:diseasesdb | 32708 (xsd:integer) |
| dbp:icd | E75.5 (en) |
| dbp:name | Neutral lipid storage disease (en) |
| dbp:omim | 275630 (xsd:integer) |
| dbp:orphanet | 98907 (xsd:integer) |
| dbp:synonyms | Chanarin–Dorfman syndrome (en) |
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| dcterms:subject | dbc:Enzyme_defects dbc:Genodermatoses dbc:Rare_diseases dbc:Lipid_storage_disorders |
| gold:hypernym | dbr:Disorder |
| rdf:type | owl:Thing wikidata:Q12136 yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Defect114464005 yago:Disease114070360 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:PathologicalState114051917 yago:PhysicalCondition114034177 dbo:Disease yago:State100024720 yago:WikicatEnzymeDefects umbel-rc:AilmentCondition |
| rdfs:comment | Das Dorfman-Chanarin-Syndrom oder Dorfman-Chanarin-Krankheit ist eine sehr seltene angeborene Stoffwechselstörung mit abnormer Speicherung von Triglyceriden und zählt zu den Speicherkrankheiten. Die Speicherung erfolgt hauptsächlich in den Leukozyten, der Muskulatur, der Leber und in den Fibroblasten und ist mit einer Ichthyose verbunden. Die Erstbeschreibung erfolgte 1974 durch Dorfman. Synonyme sind: Chanarin-Dorfman-Syndrom; Neutralfett-Speicherkrankheit; Lipidose mit Triglyzerid-Speicherkrankheit, Myopathie mit Neutralfett-Speicherung. (de) مرض تخزين الدهون المحايد (المعروف أيضًا باسم متلازمة شانارين- دورفمان) هو اضطراب وراثي جسمي متنحي خلقي يتميز بتراكم الدهون الثلاثية في سيتوبلازم الكريات البيض، (شذوذ جوردان في العضلات والكبد والأرومات الليفية والأنسجة الأخرى. يحدث عادةً كواحد من نوعين فرعيين، مرض تخزين الدهون المحايد في عضلة القلب (NLSD-M)، أو مرض تخزين الدهون السماوي المحايد (NLSD-I) والذي يُعرف أيضًا باسم متلازمة شانارين دورفمان)، والتي تتميز بشكل أساسي بالاعتلال العضلي والسماك، على التوالى. عادة ما يكون السماك الموجود عادة احمرار الجلد الخلقي غير الفقاعي والذي يظهر على شكل قشور بيضاء. (ar) Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is a congenital autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes[1], (Jordan’s Anomaly) muscle, liver, fibroblasts, and other tissues. It commonly occurs as one of two subtypes, cardiomyopathic neutral lipid storage disease (NLSD-M), or ichthyotic neutral lipid storage disease (NLSD-I) which is also known as Chanarin–Dorfman syndrome), which are characterized primarily by myopathy and ichthyosis, respectively. Normally, the ichthyosis that is present is typically non-bullous congenital ichthyosiform erythroderma which appears as white scaling. (en) |
| rdfs:label | مرض تخزين الدهون المحايد (ar) Dorfman-Chanarin-Syndrom (de) Neutral lipid storage disease (en) |
| owl:sameAs | freebase:Neutral lipid storage disease http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/216 yago-res:Neutral lipid storage disease wikidata:Neutral lipid storage disease dbpedia-ar:Neutral lipid storage disease dbpedia-de:Neutral lipid storage disease dbpedia-fa:Neutral lipid storage disease https://global.dbpedia.org/id/4sLrx |
| prov:wasDerivedFrom | wikipedia-en:Neutral_lipid_storage_disease?oldid=1116694614&ns=0 |
| foaf:depiction | wiki-commons:Special:FilePath/Chanarin-Dorfman_Syndrome_smear_2009-11-13.jpg |
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| foaf:name | Neutral lipid storage disease (en) |
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