CDS
MCID: NTR001
MIFTS: 55

Neutral Lipid Storage Disease (CDS) malady

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

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NIH Rare Diseases:42 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 based summary: Neutral Lipid Storage Disease, also known as chanarin-dorfman syndrome, is related to obesity and lipid storage disease, and has symptoms including 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:46 275630

Aliases & Classifications for Neutral Lipid Storage Disease

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Neutral Lipid Storage Disease, Aliases & Descriptions:

Name: Neutral Lipid Storage Disease 8 10 44
Chanarin-Dorfman Syndrome 8 9 42 21 46
Triglyceride Storage Disease with Impaired Long-Chain Fatty Acid Oxidation 42 21 62
Neutral Lipid Storage Disease with Ichthyosis 21 48 62
Triglyceride Storage Disease with Ichthyosis 21 62
Dorfman Chanarin Syndrome 42 20
Chanarin-Dorfman Disease 42 21
Nlsdi 42 48
 
Cds 42 21
Ichthyosiform Erythroderma with Leukocyte Vacuolation 42
Ichthyosiform Erythroderma with Leucocyte Vacuolation 62
Neutral Lipid Storage Disease with Ichthyotic 42
Ichthyotic Neutral Lipid Storage Disease 21
Disorder of Cornification 12 42
Dorfman-Chanarin Disease 48
Dcs 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
neutral lipid storage disease with ichthyosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


External Ids:

Disease Ontology8 DOID:0050729
OMIM46 275630
ICD10 via Orphanet26 E75.5

Related Diseases for Neutral Lipid Storage Disease

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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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Symptoms by clinical synopsis from OMIM:

275630

Clinical features from OMIM:

275630

HPO human phenotypes related to Neutral Lipid Storage Disease:

(show all 39)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 dry skin hallmark (90%) HP:0000958
3 abnormality of lipid metabolism hallmark (90%) HP:0003119
4 ichthyosis hallmark (90%) HP:0008064
5 retinopathy typical (50%) HP:0000488
6 ptosis typical (50%) HP:0000508
7 muscle weakness typical (50%) HP:0001324
8 hepatomegaly typical (50%) HP:0002240
9 myopathy typical (50%) HP:0003198
10 amyotrophy typical (50%) HP:0003202
11 emg abnormality typical (50%) HP:0003457
12 short stature typical (50%) HP:0004322
13 abnormal retinal pigmentation typical (50%) HP:0007703
14 cognitive impairment typical (50%) HP:0100543
15 cataract occasional (7.5%) HP:0000518
16 nystagmus occasional (7.5%) HP:0000639
17 diabetes mellitus occasional (7.5%) HP:0000819
18 reduced tendon reflexes occasional (7.5%) HP:0001315
19 abnormality of the aortic valve occasional (7.5%) HP:0001646
20 incoordination occasional (7.5%) HP:0002311
21 cranial nerve paralysis occasional (7.5%) HP:0006824
22 opacification of the corneal stroma occasional (7.5%) HP:0007759
23 autosomal recessive inheritance HP:0000007
24 everted lower lip vermilion HP:0000232
25 sensorineural hearing impairment HP:0000407
26 strabismus HP:0000486
27 subcapsular cataract HP:0000523
28 nystagmus HP:0000639
29 ectropion HP:0000656
30 intellectual disability HP:0001249
31 ataxia HP:0001251
32 muscle weakness HP:0001324
33 hepatic steatosis HP:0001397
34 alopecia HP:0001596
35 abnormality of blood and blood-forming tissues HP:0001871
36 hepatomegaly HP:0002240
37 myopathy HP:0003198
38 congenital nonbullous ichthyosiform erythroderma HP:0007479
39 microtia HP:0008551

Drugs & Therapeutics for Neutral Lipid Storage Disease

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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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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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MalaCards organs/tissues related to Neutral Lipid Storage Disease:

32
Liver, Skin, Eye

Animal Models for Neutral Lipid Storage Disease or affiliated genes

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MGI Mouse Phenotypes related to Neutral Lipid Storage Disease:

36
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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Articles related to Neutral Lipid Storage Disease:

(show all 45)
idTitleAuthorsYear
1
A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. (24836204)
2014
2
Muscle mri in neutral lipid storage disease with myopathy carrying mutation c.187+1G&gt;A. (25363365)
2014
3
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. (23146629)
2013
4
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
5
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. (23333026)
2013
6
Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. (23824421)
2013
7
Cardiac oxidative stress in a mouse model of neutral lipid storage disease. (23867907)
2013
8
Characteristic Scattergram of White Blood Cells Obtained Using the Pentra MS CRP Hematology Analyzer in a Patient with Neutral Lipid Storage Disease. (24370872)
2013
9
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. (22832386)
2012
10
Blocked muscle fat oxidation during exercise in neutral lipid storage disease. (22491199)
2012
11
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. (22964912)
2012
12
Neutral lipid storage disease with unusual presentation: report of three cases. (21575048)
2012
13
Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease. (21695016)
2011
14
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (21045422)
2010
15
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. (20471263)
2010
16
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles. (21073837)
2010
17
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. (19401457)
2009
18
Jordans' anomaly in a new neutral lipid storage disease. (18429052)
2009
19
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. (18952067)
2008
20
The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. (18445677)
2008
21
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
22
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. (17187067)
2007
23
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. (17657808)
2007
24
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). (16741516)
2006
25
Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features. (11251597)
2001
26
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (10745395)
2000
27
A cause of fatty liver: neutral lipid storage disease with ichthyosis--electron microscopic findings. (10573364)
1999
28
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. (9469583)
1998
29
Neutral lipid storage disease with fatty liver and cholestasis. (9360211)
1997
30
Neutral lipid storage disease--response to dietary intervention. (9301368)
1997
31
Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. (8663220)
1996
32
Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report. (7955510)
1994
33
Cellular uptake and catabolism of high-density-lipoprotein triacylglycerols in human cultured fibroblasts: degradation block in neutral lipid storage disease. (8110183)
1994
34
Neutral lipid storage disease co-existing with ichthyosiform dermatosis. (8181512)
1994
35
Neutral lipid storage disease. Case report and lipid studies. (8186119)
1994
36
Neutral lipid storage disease with ichthyosis: serum apolipoprotein levels and cholesterol metabolism in monocyte-derived macrophages. (1909403)
1991
37
Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism. (2001430)
1991
38
Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts. (3139924)
1988
39
Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome). (3205858)
1988
40
Ichthyosis and neutral lipid storage disease. (3354610)
1988
41
Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. (4026335)
1985
42
Ichthyosis and neutral lipid storage disease. (3993689)
1985
43
Two populations of type I fibres in striated muscle from a case of neutral lipid storage disease. (521823)
1979
44
Neutral-lipid storage disease: a new disorder of lipid metabolism. (1139147)
1975
45
Morphological features in a neutral lipid storage disease. (1165295)
1975

Variations for Neutral Lipid Storage Disease

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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:

6
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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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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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)37
CDP-diacylglycerol biosynthesis I37
Triacylglyceride Synthesis37
9.8ABHD5, PNPLA2
2
Show member pathways
9.6ABHD5, PLIN1
39.4PLIN2, PLIN1
4
Show member pathways
7.1ABHD5, PNPLA2, ETFDH, ETFB, PLIN2, PLIN1

Compounds for genes affiliated with Neutral Lipid Storage Disease

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Neutral Lipid Storage Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mannose 6-phosphate44 2410.4PLIN1, PLIN2
2catecholamine449.3PLIN1, PNPLA2
3carnitine449.2PLIN2, SLC22A5
4glycerol44 24 1111.2PLIN2, PNPLA2, PLIN1
5triacylglycerol448.9ABHD5, PNPLA2, PLIN2, PLIN1
6lipid448.8ABHD5, PLIN2, PNPLA2, PLIN1
7fatty acid448.7PLIN1, PLIN2, ETFDH, PNPLA2
8acyl-coa448.7ETFDH, ETFB, PLIN2, PLIN1

GO Terms for genes affiliated with Neutral Lipid Storage Disease

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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

Sources for Neutral Lipid Storage Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet