CDS
MCID: NTR001
MIFTS: 59

Neutral Lipid Storage Disease (CDS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases categories
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Summaries for Neutral Lipid Storage Disease

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Chanarin-dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. affected individuals cannot break down certain fats called triglycerides. these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. at birth, affected individuals usually present with dry, scaly skin. additional features include an enlarged liver,cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. the signs and symptoms vary greatly among individuals with this condition. some people may have ichthyosis only, while others may have problems affecting many areas of the body. this condition is caused by mutations in the abhd5 gene and is inherited in an autosomal recessive pattern. last updated: 4/22/2011

MalaCards: Neutral Lipid Storage Disease, also known as chanarin-dorfman syndrome, is related to obesity and lipid storage disease, and has symptoms including abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase, abnormal emg/electromyogram/electropmyography and short stature/dwarfism/nanism. An important gene associated with Neutral Lipid Storage Disease is ABHD5 (abhydrolase domain containing 5), and among its related pathways are triacylglycerol biosynthesis and Lipoprotein metabolism. The compounds mannose 6-phosphate and catecholamine have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and eye, and related mouse phenotypes are adipose tissue and integument.

Disease Ontology:8 A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.

Genetics Home Reference:21 Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dry, scaly skin (ichthyosis), which is usually present at birth. Additional features of this condition include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts), difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), and mild intellectual disability.

Wikipedia:65 Neutral lipid storage disease (also known as Chanarin?Dorfman syndrome) is an autosomal recessive... more...

Description from OMIM:47 275630

Aliases & Classifications for Neutral Lipid Storage Disease

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
neutral lipid storage disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
neutral lipid storage disease with ichthyosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

neutral lipid storage disease 8 10 45 49
chanarin-dorfman syndrome 8 9 43 21 47
triglyceride storage disease with impaired long-chain fatty acid oxidation 43 21
neutral lipid storage disease with ichthyosis 21 49
triglyceride storage disease with ichthyosis 21 62
dorfman chanarin syndrome 43 20
chanarin-dorfman disease 43 21
nlsdi 43 49
cds 43 21
ichthyosiform erythroderma with leukocyte vacuolation 43
neutral lipid storage disease with ichthyotic 43
lipidosis with triglyceride storage disease 49
ichthyotic neutral lipid storage disease 21
disorder of cornification 12 43
dorfman-chanarin disease 49
dcs 43


External Ids:

Disease Ontology8 DOID:0050729
OMIM47 275630
SNOMED-CT via Orphanet59 19604005
UMLS via Orphanet63 C0268238
MESH via Orphanet36 C536560
ICD10 via Orphanet26 E75.5

Related Diseases for Neutral Lipid Storage Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Neutral Lipid Storage Disease:



Diseases related to neutral lipid storage disease

Symptoms for Neutral Lipid Storage Disease

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

275630

Clinical features from OMIM:

275630

Symptoms:

49 (show all 29)
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • short stature/dwarfism/nanism
  • corneal clouding/opacity/vascularisation
  • cataract/lens opacification
  • nystagmus
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • diabetes mellitus
  • cranial nerve anomalies
  • cranial nerves palsy
  • ataxia/incoordination/trouble of the equilibrium
  • areflexia/hyporeflexia
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • muscle weakness/flaccidity
  • dry/squaly skin/exfoliation
  • ichthyosis/ichthyosiform dermatitis
  • structural anomalies of the liver and the biliary tract
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • autosomal recessive inheritance
  • retinopathy
  • retinitis pigmentosa/retinal pigmentary changes
  • ptosis
  • hearing loss/hypoacusia/deafness
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • storage liver disease
  • hepatomegaly/liver enlargement (excluding storage disease)
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • myopathy
  • sensorineural deafness/hearing loss

Drugs & Therapeutics for Neutral Lipid Storage Disease

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Neutral Lipid Storage Disease

Search NIH Clinical Center for Neutral Lipid Storage Disease

Genetic Tests for Neutral Lipid Storage Disease

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20GeneTests
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Genetic tests related to Neutral Lipid Storage Disease:

id Genetic test Affiliating Genes
1 Chanarin-Dorfman Syndrome20 ABHD5

Anatomical Context for Neutral Lipid Storage Disease

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33MalaCards
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MalaCards organs/tissues related to Neutral Lipid Storage Disease:

33
Liver, Skin, Eye

Animal Models for Neutral Lipid Storage Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Neutral Lipid Storage Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1PNPLA2, PLIN2, PLIN1
2MP:00107718.7ABHD5, PNPLA2, PLIN2, PLIN1
3MP:00053708.1ABHD5, PNPLA2, PLIN2, PLIN1, SLC22A5
4MP:00053787.8PLIN1, PLIN2, PNPLA2, ABHD5, SLC22A5

Publications for Neutral Lipid Storage Disease

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52PubMed
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Articles related to Neutral Lipid Storage Disease:

(show all 41)
idTitleAuthorsYear
1
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. (23146629)
2013
2
Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy. (23449549)
2013
3
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. (23333026)
2013
4
Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. (23824421)
2013
5
Characteristic Scattergram of White Blood Cells Obtained Using the Pentra MS CRP Hematology Analyzer in a Patient with Neutral Lipid Storage Disease. (24370872)
2013
6
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. (22832386)
2012
7
Blocked muscle fat oxidation during exercise in neutral lipid storage disease. (22491199)
2012
8
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. (22964912)
2012
9
Neutral lipid storage disease with unusual presentation: report of three cases. (21575048)
2012
10
Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease. (21695016)
2011
11
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (21045422)
2010
12
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. (20471263)
2010
13
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles. (21073837)
2010
14
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. (19401457)
2009
15
Jordans' anomaly in a new neutral lipid storage disease. (18429052)
2009
16
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. (18952067)
2008
17
The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. (18445677)
2008
18
Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity]. (17631826)
2007
19
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. (17187067)
2007
20
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. (17657808)
2007
21
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). (16741516)
2006
22
Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features. (11251597)
2001
23
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (10745395)
2000
24
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. (9469583)
1998
25
Neutral lipid storage disease with fatty liver and cholestasis. (9360211)
1997
26
Neutral lipid storage disease--response to dietary intervention. (9301368)
1997
27
Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. (8663220)
1996
28
Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report. (7955510)
1994
29
Cellular uptake and catabolism of high-density-lipoprotein triacylglycerols in human cultured fibroblasts: degradation block in neutral lipid storage disease. (8110183)
1994
30
Neutral lipid storage disease co-existing with ichthyosiform dermatosis. (8181512)
1994
31
Neutral lipid storage disease. Case report and lipid studies. (8186119)
1994
32
Neutral lipid storage disease with ichthyosis: serum apolipoprotein levels and cholesterol metabolism in monocyte-derived macrophages. (1909403)
1991
33
Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism. (2001430)
1991
34
Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts. (3139924)
1988
35
Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome). (3205858)
1988
36
Ichthyosis and neutral lipid storage disease. (3354610)
1988
37
Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. (4026335)
1985
38
Ichthyosis and neutral lipid storage disease. (3993689)
1985
39
Two populations of type I fibres in striated muscle from a case of neutral lipid storage disease. (521823)
1979
40
Neutral-lipid storage disease: a new disorder of lipid metabolism. (1139147)
1975
41
Morphological features in a neutral lipid storage disease. (1165295)
1975

Variations for Neutral Lipid Storage Disease

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Neutral Lipid Storage Disease:

64
id Symbol AA change Variation ID SNP ID
1ABHD5p.Glu7LysVAR_023387rs104893676
2ABHD5p.Gln130ProVAR_023388rs28939077
3ABHD5p.Glu260LysVAR_023389rs28939078
4ABHD5p.Ser115GlyVAR_057954

Clinvar genetic disease variations for Neutral Lipid Storage Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1ABHD5ABHD5, IVS6, G-A, -1single nucleotide variantPathogenic
2ABHD5NM_016006.4(ABHD5): c.98C> G (p.Ser33Ter)single nucleotide variantPathogenicrs104893675GRCh37Chr 3, 43740818: 43740818
3ABHD5ABHD5, IVS3, A-G, -2single nucleotide variantPathogenic
4ABHD5NM_016006.4(ABHD5): c.389A> C (p.Gln130Pro)single nucleotide variantPathogenicrs28939077GRCh37Chr 3, 43743962: 43743962
5ABHD5NM_016006.4(ABHD5): c.19G> A (p.Glu7Lys)single nucleotide variantPathogenicrs104893676GRCh37Chr 3, 43732503: 43732503
6ABHD5NM_016006.4(ABHD5): c.594dupC (p.Arg199Glnfs)duplicationPathogenicrs387906335GRCh37Chr 3, 43753288: 43753289
7ABHD5NM_016006.4(ABHD5): c.778G> A (p.Glu260Lys)single nucleotide variantPathogenicrs28939078GRCh37Chr 3, 43759167: 43759167
8ABHD5NM_016006.4(ABHD5): c.46_47delAG (p.Arg16Valfs)deletionPathogenicrs387906336GRCh37Chr 3, 43732530: 43732531

Expression for genes affiliated with Neutral Lipid Storage Disease

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neutral Lipid Storage Disease

Search GEO for disease gene expression data for Neutral Lipid Storage Disease.

Pathways for genes affiliated with Neutral Lipid Storage Disease

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50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG
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Pathways related to Neutral Lipid Storage Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
phosphatidylglycerol biosynthesis II (non-plastidic)38
CDP-diacylglycerol biosynthesis I38
Triacylglyceride Synthesis38
9.8PNPLA2, ABHD5
2
Show member pathways
9.6PLIN1, ABHD5
39.4PLIN1, PLIN2
4
Show member pathways
7.1PLA2G16, ABHD5, PNPLA2, ETFDH, ETFB, PLIN2

Compounds for genes affiliated with Neutral Lipid Storage Disease

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45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Neutral Lipid Storage Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mannose 6-phosphate45 2410.4PLIN1, PLIN2
2catecholamine459.3PLIN1, PNPLA2
3carnitine459.2PLIN2, SLC22A5
4glycerol45 24 1111.2PLIN2, PNPLA2, PLIN1
5triacylglycerol458.9ABHD5, PNPLA2, PLIN2, PLIN1
6lipid458.8ABHD5, PLIN2, PNPLA2, PLIN1
7fatty acid458.7PLIN1, PLIN2, ETFDH, PNPLA2
8acyl-coa458.7ETFDH, ETFB, PLIN2, PLIN1

GO Terms for genes affiliated with Neutral Lipid Storage Disease

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16Gene Ontology
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Cellular components related to Neutral Lipid Storage Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:0432319.1PNPLA2, ETFB, ABHD5
2lipid particleGO:0058118.7PNPLA2, PLIN1, PLIN2, ABHD5
3endoplasmic reticulumGO:0057838.6PLIN2, PLIN1, PLA2G16

Biological processes related to Neutral Lipid Storage Disease according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of sequestering of triglycerideGO:0108919.8PNPLA2, ABHD5
2cellular metabolic processGO:0442379.6ETFDH, ETFB
3positive regulation of triglyceride catabolic processGO:0108989.6AADAC, PNPLA2, ABHD5
4respiratory electron transport chainGO:0229049.5ETFB, ETFDH
5triglyceride catabolic processGO:0194339.4ABHD5, PLIN1, PNPLA2
6glycerophospholipid biosynthetic processGO:0464749.0PLA2G16, PNPLA2
7small molecule metabolic processGO:0442817.2PNPLA2, ABHD5, PLIN1, PLIN2, ETFB, PLA2G16

Molecular functions related to Neutral Lipid Storage Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:0090559.6ETFB, ETFDH
2triglyceride lipase activityGO:0048069.1AADAC, PNPLA2, ABHD5

Products for genes affiliated with Neutral Lipid Storage Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neutral Lipid Storage Disease

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet